Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	Onset	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome			175
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect			175
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma			54
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2			19
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			19
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040281 - Very frequent		74
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36			96
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome			13
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome			13
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome			147
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome			62
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI			120
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease			43
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11			43
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome			43
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome			38
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			5
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome			36
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome			36
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG			85
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome			17
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome			28
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome			28
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma			184
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome			276
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1			276
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma			276
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia			5769
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia			7642
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia			1086
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1			76
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect			247
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect			247
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome			247
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6			247
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia			36
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome			33
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia			126
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia			182
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CCDC88C CL E G H	440193	19967	OMIM:236600	Hydrocephalus, nonsyndromic, autosomal recessive 1			54
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3			11
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			11
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia			23
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly			200
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly			200
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			200
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly			200
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome			27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome			5
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome			7
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect			7
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect			342
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome			342
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4			342
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome			90
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect			90
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18			10
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects			165
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis			102
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis			102
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome			177
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies			193
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome			193
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form			101
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease			12
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis			149
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome			57
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome			57
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma			88
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9			108
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome			108
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis			72
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS			72
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome			159
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly			22
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly			22
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			22
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly			22
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome			9
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia			116
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia			78
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia			63
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia			27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia			62
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia			542
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia			527
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia			18
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia			73
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia			104
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia			167
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional		145
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome			18
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia			44
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome			51
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome			51
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome			4
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			106
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			54
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia			158
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			158
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex			83
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease			12
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome			92
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia			8
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome			35
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia			340
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia			58
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked			58
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus			58
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia			410
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia			147
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia			73
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia			87
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia			73
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia			157
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia			53
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L			53
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia			107
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly			17
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly			17
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			17
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly			17
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis			172
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly			172
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome			172
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly			172
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			175
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome			175
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome			175
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease			175
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome			175
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome			175
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2			175
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA			145
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia			145
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans			145
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans			145
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome			145
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome			145
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1			145
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2			145
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I			145
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome			111
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			157
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease			157
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5			157
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome			157
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type			184
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease			184
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4			184
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome			184
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2			493
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II			493
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome			47
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly			48
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly			48
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			48
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly			48
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome			353
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath			70
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia			9
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly			173
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly			173
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			173
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly			173
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome			270
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome			7
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome			8
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII			54
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis			200
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis			88
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome			11
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7			11
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome			39
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome			113
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type			345
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia			21
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus			31
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome			31
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II			86
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome			115
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome			115
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly			48
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome			111
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect			111
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect			111
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome			283
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation			283
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome			53
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome			24
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly			24
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome			276
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus			167
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2			167
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome			660
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome			196
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked			134
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius			134
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius			134
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome			134
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement			71
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease			136
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6			136
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome			136
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome			88
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome			106
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome			21
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome			134
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome			178
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome			22
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus			124
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia			13
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1			228
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome			228
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2			203
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome			127
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect			127
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome			127
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1			127
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC			101
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type			101
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency			183
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked			185
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE			88
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence			72
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2			43
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion			1952
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I			1952
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma			220
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2			220
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia			50
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly			45
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly			45
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			45
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly			45
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome			452
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome			138
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome			138
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect			85
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus			102
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic			102
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome			118
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome			84
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I			201
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia			201
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	OGDH CL E G H	4967	8124	ORPHA:31	Oxoglutaric aciduria
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5			73
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia			1349
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma			9
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)			62
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome			4
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome			77
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome			162
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome			162
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma			162
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome			12
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome			12
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia			11
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included			11
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POLG CL E G H	5428	9179	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		464
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome			138
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome			138
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			180
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease			180
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome			180
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMGNT2 CL E G H	84892	25902	OMIM:614830	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8			33
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome			33
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			18
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12			18
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome			18
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			213
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease			213
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome			213
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement			221
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease			221
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome			221
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis			76
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency			76
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia			20
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			9
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36			13
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome			13
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35			10
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			58
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance			134
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly			665
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome			665
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly			665
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			665
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3			665
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly			665
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome			40
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease			948
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome			948
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB			53
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia			9
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RAD51 CL E G H	5888	9817	OMIM:617244	Fanconi anemia, complementation group R			9
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia			391
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3			57
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation			88
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome			445
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome			5
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome			57
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia			200
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome			109
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect			167
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect			167
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome			167
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia			31
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia			5
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia			58
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome			8
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5			55
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome			5
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2			5
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type			49
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly			67
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly			67
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			67
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly			67
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair			74
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome			73
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease			78
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)			36
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome			68
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1			13
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia			274
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SMARCB1 CL E G H	6598	11103	ORPHA:99966	Atypical teratoid rhabdoid tumor			87
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma			87
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma			47
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly			135
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included			22
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma			22
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies			15
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome			33
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia			109
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia			45
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia			15
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44			9
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly			99
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly			99
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			99
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly			99
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			85
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			70
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome			124
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome			124
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma			124
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency			80
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome			7
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome			5
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis			82
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome			45
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome			45
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome			76
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome			76
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome			31
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma			238
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly			32
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive			80
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TK2 CL E G H	7084	11831	ORPHA:254886	Autosomal recessive progressive external ophthalmoplegia	HP:0040283 - Occasional		103
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome			4
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect			39
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2			45
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect			45
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome			45
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect			33
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome			33
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome			82
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14			82
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect			82
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect			82
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome			82
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome			166
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect			166
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome			166
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3			166
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis			44
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus			911
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TP53 CL E G H	7157	11998	ORPHA:2807	Papilloma of choroid plexus			911
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease			31
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRIM71 CL E G H	131405	32669	OMIM:618667	HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia			214
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis			1090
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis			2738
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease			22
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis			116
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome			6
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to			111
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele			111
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to			2
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome			47
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome			83
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1			83
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies			27
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive			12
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome			12
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia			125
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome			17
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly			34
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked			39
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia			20
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect			49
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome			1
HP:0002921	HP:0002921	Abnormal cerebrospinal fluid morphology	0	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002921	HP:0034429	Bacteria in cerebrospinal fluid	1	CL E G H
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis			90
HP:0002921	HP:0012229	CSF pleocytosis	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0002921	HP:0012229	CSF pleocytosis	1	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002921	HP:0000238	Hydrocephalus	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		175
HP:0002921	HP:0000238	Hydrocephalus	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		175
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0002921	HP:0000238	Hydrocephalus	1	AKT1 CL E G H	207	391	ORPHA:2495	Meningioma	HP:0040283 - Occasional		54
HP:0002921	HP:0000238	Hydrocephalus	1	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.		19
HP:0002921	HP:0000238	Hydrocephalus	1	AKT3 CL E G H	10000	393	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent		19
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0002921	HP:0000238	Hydrocephalus	1	ALDH7A1 CL E G H	501	877	OMIM:266100	Epilepsy, pyridoxine-dependent			227
HP:0002921	HP:0000238	Hydrocephalus	1	ALG13 CL E G H	79868	30881	OMIM:300884	Epileptic encephalopathy, early infantile, 36	HP:0040283 - Occasional		96
HP:0002921	HP:0000238	Hydrocephalus	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.		34
HP:0002921	HP:0000238	Hydrocephalus	1	AP1S2 CL E G H	8905	560	ORPHA:85335	Fried syndrome	HP:0040281 - Very frequent		13
HP:0002921	HP:0000238	Hydrocephalus	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	HP:0040283 - Occasional		13
HP:0002921	HP:0000238	Hydrocephalus	1	ARHGAP31 CL E G H	57514	29216	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		147
HP:0002921	HP:0000238	Hydrocephalus	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		62
HP:0002921	HP:0000238	Hydrocephalus	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0002921	HP:0000238	Hydrocephalus	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy			253
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form			253
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			253
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			253
HP:0002921	HP:0000238	Hydrocephalus	1	ARSB CL E G H	411	714	OMIM:253200	Mucopolysaccharidosis, type VI	.		120
HP:0002921	HP:0000238	Hydrocephalus	1	ARVCF CL E G H	421	728	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		1
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ASPA CL E G H	443	756	OMIM:271900	Canavan disease			48
HP:0002921	HP:0012229	CSF pleocytosis	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine			239
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0002921	HP:0000238	Hydrocephalus	1	B3GALNT2 CL E G H	148789	28596	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		43
HP:0002921	HP:0000238	Hydrocephalus	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.		43
HP:0002921	HP:0000238	Hydrocephalus	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		43
HP:0002921	HP:0000238	Hydrocephalus	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040282 - Frequent		38
HP:0002921	HP:0000238	Hydrocephalus	1	B3GAT3 CL E G H	26229	923	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		5
HP:0002921	HP:0000238	Hydrocephalus	1	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040282 - Frequent		36
HP:0002921	HP:0000238	Hydrocephalus	1	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.		36
HP:0002921	HP:0000238	Hydrocephalus	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG	HP:0040281 - Very frequent		85
HP:0002921	HP:0000238	Hydrocephalus	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.		17
HP:0002921	HP:0000238	Hydrocephalus	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		17
HP:0002921	HP:0000238	Hydrocephalus	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		28
HP:0002921	HP:0000238	Hydrocephalus	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		28
HP:0002921	HP:0000238	Hydrocephalus	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		34
HP:0002921	HP:0000238	Hydrocephalus	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		34
HP:0002921	HP:0000238	Hydrocephalus	1	BAP1 CL E G H	8314	950	ORPHA:2495	Meningioma	HP:0040283 - Occasional		184
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0002921	HP:0000238	Hydrocephalus	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0002921	HP:0000238	Hydrocephalus	1	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002921	HP:0000238	Hydrocephalus	1	BRAF CL E G H	673	1097	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		276
HP:0002921	HP:0000238	Hydrocephalus	1	BRAF CL E G H	673	1097	OMIM:115150	Cardiofaciocutaneous syndrome 1	.		276
HP:0002921	HP:0000238	Hydrocephalus	1	BRAF CL E G H	673	1097	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		276
HP:0002921	HP:0000238	Hydrocephalus	1	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		5769
HP:0002921	HP:0000238	Hydrocephalus	1	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		7642
HP:0002921	HP:0000238	Hydrocephalus	1	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1086
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis			1
HP:0002921	HP:0000238	Hydrocephalus	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.		76
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine			449
HP:0002921	HP:0012229	CSF pleocytosis	1	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0002921	HP:0000238	Hydrocephalus	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		1
HP:0002921	HP:0000238	Hydrocephalus	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2			247
HP:0002921	HP:0000238	Hydrocephalus	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		247
HP:0002921	HP:0000238	Hydrocephalus	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		247
HP:0002921	HP:0000238	Hydrocephalus	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		247
HP:0002921	HP:0000238	Hydrocephalus	1	CC2D2A CL E G H	57545	29253	OMIM:612284	Meckel syndrome, type 6	HP:0040283 - Occasional		247
HP:0002921	HP:0000238	Hydrocephalus	1	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		36
HP:0002921	HP:0000238	Hydrocephalus	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent		33
HP:0002921	HP:0000238	Hydrocephalus	1	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		126
HP:0002921	HP:0000238	Hydrocephalus	1	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		182
HP:0002921	HP:0000238	Hydrocephalus	1	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0002921	HP:0000238	Hydrocephalus	1	CCDC88C CL E G H	440193	19967	OMIM:236600	Hydrocephalus, nonsyndromic, autosomal recessive 1	.		54
HP:0002921	HP:0000238	Hydrocephalus	1	CCL2 CL E G H	6347	10618	OMIM:182940	Neural tube defects, susceptibility to	.		3
HP:0002921	HP:0000238	Hydrocephalus	1	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.		11
HP:0002921	HP:0000238	Hydrocephalus	1	CCND2 CL E G H	894	1583	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent		11
HP:0002921	HP:0000238	Hydrocephalus	1	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		23
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy			3
HP:0002921	HP:0000238	Hydrocephalus	1	CDC40 CL E G H	51362	17350	OMIM:619302	PONTOCEREBELLAR HYPOPLASIA, TYPE 15; PCH15
HP:0002921	HP:0000238	Hydrocephalus	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002921	HP:0000238	Hydrocephalus	1	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome			4
HP:0002921	HP:0000238	Hydrocephalus	1	CDON CL E G H	50937	17104	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0002921	HP:0000238	Hydrocephalus	1	CDON CL E G H	50937	17104	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0002921	HP:0000238	Hydrocephalus	1	CDON CL E G H	50937	17104	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		200
HP:0002921	HP:0000238	Hydrocephalus	1	CDON CL E G H	50937	17104	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		200
HP:0002921	HP:0410310	Abnormality of neutrophil morphology in CSF	1	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency			3
HP:0002921	HP:0000238	Hydrocephalus	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome	.		27
HP:0002921	HP:0000238	Hydrocephalus	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		5
HP:0002921	HP:0000238	Hydrocephalus	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		7
HP:0002921	HP:0000238	Hydrocephalus	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		7
HP:0002921	HP:0000238	Hydrocephalus	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		342
HP:0002921	HP:0000238	Hydrocephalus	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		342
HP:0002921	HP:0000238	Hydrocephalus	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4	HP:0040283 - Occasional		342
HP:0002921	HP:0000238	Hydrocephalus	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		90
HP:0002921	HP:0000238	Hydrocephalus	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		90
HP:0002921	HP:0000238	Hydrocephalus	1	CEP83 CL E G H	51134	17966	OMIM:615862	Nephronophthisis 18	HP:0040283 - Occasional		10
HP:0002921	HP:0000238	Hydrocephalus	1	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0000238	Hydrocephalus	1	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0000238	Hydrocephalus	1	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0000238	Hydrocephalus	1	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1			6
HP:0002921	HP:0000238	Hydrocephalus	1	CHST3 CL E G H	9469	1971	OMIM:245600	Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects	.		165
HP:0002921	HP:0000238	Hydrocephalus	1	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0002921	HP:0000238	Hydrocephalus	1	CLCN3 CL E G H	1182	2021	OMIM:619512	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA			2
HP:0002921	HP:0000238	Hydrocephalus	1	CLCN7 CL E G H	1186	2025	ORPHA:53	Albers-Schönberg osteopetrosis	HP:0040283 - Occasional		102
HP:0002921	HP:0000238	Hydrocephalus	1	CLCN7 CL E G H	1186	2025	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		102
HP:0002921	HP:0000238	Hydrocephalus	1	CLIC2 CL E G H	1193	2063	OMIM:300886	MENTAL RETARDATION, X-LINKED, SYNDROMIC 32; MRXS32			4
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002921	HP:0000238	Hydrocephalus	1	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L			71
HP:0002921	HP:0000238	Hydrocephalus	1	COL18A1 CL E G H	80781	2195	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent		177
HP:0002921	HP:0000238	Hydrocephalus	1	COL4A1 CL E G H	1282	2202	OMIM:175780	Brain small vessel disease 1 with or without ocular anomalies	.		193
HP:0002921	HP:0000238	Hydrocephalus	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		193
HP:0002921	HP:0000238	Hydrocephalus	1	COMT CL E G H	1312	2228	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		6
HP:0002921	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0002921	HP:0000238	Hydrocephalus	1	COX7B CL E G H	1349	2291	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		6
HP:0002921	HP:0000238	Hydrocephalus	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.		6
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002921	HP:0000238	Hydrocephalus	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002921	HP:0000238	Hydrocephalus	1	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		1
HP:0002921	HP:0000238	Hydrocephalus	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional		101
HP:0002921	HP:0000238	Hydrocephalus	1	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	.		12
HP:0002921	HP:0000238	Hydrocephalus	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0002921	HP:0000238	Hydrocephalus	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0000238	Hydrocephalus	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.		149
HP:0002921	HP:0000238	Hydrocephalus	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		57
HP:0002921	HP:0000238	Hydrocephalus	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		57
HP:0002921	HP:0000238	Hydrocephalus	1	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0002921	HP:0000238	Hydrocephalus	1	CTNNB1 CL E G H	1499	2514	ORPHA:54595	Craniopharyngioma	HP:0040283 - Occasional		88
HP:0002921	HP:0000238	Hydrocephalus	1	CYP26C1 CL E G H	340665	20577	ORPHA:398189	Focal facial dermal dysplasia type IV	HP:0040282 - Frequent		2
HP:0002921	HP:0000238	Hydrocephalus	1	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0002921	HP:0000238	Hydrocephalus	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.		108
HP:0002921	HP:0000238	Hydrocephalus	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		108
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0002921	HP:0000238	Hydrocephalus	1	DCC CL E G H	1630	2701	OMIM:617542	GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2			36
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0002921	HP:0000238	Hydrocephalus	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	HP:0040284 - Very rare		6
HP:0002921	HP:0000238	Hydrocephalus	1	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040283 - Occasional		72
HP:0002921	HP:0000238	Hydrocephalus	1	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.		72
HP:0002921	HP:0000238	Hydrocephalus	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome	.		159
HP:0002921	HP:0000238	Hydrocephalus	1	DISP1 CL E G H	84976	19711	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0002921	HP:0000238	Hydrocephalus	1	DISP1 CL E G H	84976	19711	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0002921	HP:0000238	Hydrocephalus	1	DISP1 CL E G H	84976	19711	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		22
HP:0002921	HP:0000238	Hydrocephalus	1	DISP1 CL E G H	84976	19711	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		22
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002921	HP:0000238	Hydrocephalus	1	DLL1 CL E G H	28514	2908	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0002921	HP:0000238	Hydrocephalus	1	DLL1 CL E G H	28514	2908	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0002921	HP:0000238	Hydrocephalus	1	DLL1 CL E G H	28514	2908	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		3
HP:0002921	HP:0000238	Hydrocephalus	1	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS			3
HP:0002921	HP:0000238	Hydrocephalus	1	DLL1 CL E G H	28514	2908	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		3
HP:0002921	HP:0000238	Hydrocephalus	1	DLL4 CL E G H	54567	2910	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		9
HP:0002921	HP:0000238	Hydrocephalus	1	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		116
HP:0002921	HP:0000238	Hydrocephalus	1	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0000238	Hydrocephalus	1	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		78
HP:0002921	HP:0000238	Hydrocephalus	1	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		63
HP:0002921	HP:0000238	Hydrocephalus	1	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		27
HP:0002921	HP:0000238	Hydrocephalus	1	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		62
HP:0002921	HP:0000238	Hydrocephalus	1	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0000238	Hydrocephalus	1	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0002921	HP:0000238	Hydrocephalus	1	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		542
HP:0002921	HP:0000238	Hydrocephalus	1	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		527
HP:0002921	HP:0000238	Hydrocephalus	1	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		18
HP:0002921	HP:0000238	Hydrocephalus	1	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1			73
HP:0002921	HP:0000238	Hydrocephalus	1	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		73
HP:0002921	HP:0000238	Hydrocephalus	1	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		104
HP:0002921	HP:0000238	Hydrocephalus	1	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		2
HP:0002921	HP:0000238	Hydrocephalus	1	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		167
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0002921	HP:0000238	Hydrocephalus	1	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome			79
HP:0002921	HP:0000238	Hydrocephalus	1	DOCK6 CL E G H	57572	19189	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		18
HP:0002921	HP:0000238	Hydrocephalus	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent		3
HP:0002921	HP:0000238	Hydrocephalus	1	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		44
HP:0002921	HP:0000238	Hydrocephalus	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent		51
HP:0002921	HP:0000238	Hydrocephalus	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.		51
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			58
HP:0002921	HP:0000238	Hydrocephalus	1	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.	HP:0003577 - Congenital onset	3
HP:0002921	HP:0000238	Hydrocephalus	1	EOGT CL E G H	285203	28526	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		4
HP:0002921	HP:0000238	Hydrocephalus	1	EPHB4 CL E G H	2050	3395	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare		3
HP:0002921	HP:0000238	Hydrocephalus	1	ERCC2 CL E G H	2068	3434	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		106
HP:0002921	HP:0000238	Hydrocephalus	1	ERCC3 CL E G H	2071	3435	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		54
HP:0002921	HP:0000238	Hydrocephalus	1	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		158
HP:0002921	HP:0000238	Hydrocephalus	1	ERCC4 CL E G H	2072	3436	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		158
HP:0002921	HP:0000238	Hydrocephalus	1	ERCC5 CL E G H	2073	3437	ORPHA:220295	Xeroderma pigmentosum-Cockayne syndrome complex	HP:0040281 - Very frequent		83
HP:0002921	HP:0000238	Hydrocephalus	1	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B			199
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0002921	HP:0000238	Hydrocephalus	1	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A			55
HP:0002921	HP:0000238	Hydrocephalus	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		12
HP:0002921	HP:0000238	Hydrocephalus	1	ESCO2 CL E G H	157570	27230	OMIM:268300	Roberts syndrome	.		92
HP:0002921	HP:0000238	Hydrocephalus	1	FAM111A CL E G H	63901	24725	OMIM:602361	Gracile bone dysplasia	.		8
HP:0002921	HP:0000238	Hydrocephalus	1	FAM20C CL E G H	56975	22140	OMIM:259775	Raine syndrome	HP:0040283 - Occasional		35
HP:0002921	HP:0000238	Hydrocephalus	1	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		340
HP:0002921	HP:0000238	Hydrocephalus	1	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		58
HP:0002921	HP:0000238	Hydrocephalus	1	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB			58
HP:0002921	HP:0000238	Hydrocephalus	1	FANCB CL E G H	2187	3583	OMIM:314390	VACTERL association, X-linked	.		58
HP:0002921	HP:0000238	Hydrocephalus	1	FANCB CL E G H	2187	3583	ORPHA:3412	VACTERL with hydrocephalus	HP:0040281 - Very frequent		58
HP:0002921	HP:0000238	Hydrocephalus	1	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		410
HP:0002921	HP:0000238	Hydrocephalus	1	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		147
HP:0002921	HP:0000238	Hydrocephalus	1	FANCD2 CL E G H	2177	3585	OMIM:227646	Fanconi anemia, complementation group D2			147
HP:0002921	HP:0000238	Hydrocephalus	1	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0002921	HP:0000238	Hydrocephalus	1	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		87
HP:0002921	HP:0000238	Hydrocephalus	1	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		73
HP:0002921	HP:0000238	Hydrocephalus	1	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		157
HP:0002921	HP:0000238	Hydrocephalus	1	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		53
HP:0002921	HP:0000238	Hydrocephalus	1	FANCL CL E G H	55120	20748	OMIM:614083	Fanconi anemia, complementation group L	HP:0040283 - Occasional		53
HP:0002921	HP:0000238	Hydrocephalus	1	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		107
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0002921	HP:0000238	Hydrocephalus	1	FBN1 CL E G H	2200	3603	OMIM:616914	Marfan lipodystrophy syndrome			1361
HP:0002921	HP:0000238	Hydrocephalus	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome			1361
HP:0002921	HP:0000238	Hydrocephalus	1	FGF8 CL E G H	2253	3686	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0002921	HP:0000238	Hydrocephalus	1	FGF8 CL E G H	2253	3686	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0002921	HP:0000238	Hydrocephalus	1	FGF8 CL E G H	2253	3686	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		17
HP:0002921	HP:0000238	Hydrocephalus	1	FGF8 CL E G H	2253	3686	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		17
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.		172
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR1 CL E G H	2260	3688	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.		172
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR1 CL E G H	2260	3688	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		172
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR2 CL E G H	2263	3689	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		175
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.		175
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional		175
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome			175
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040283 - Occasional		175
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR2 CL E G H	2263	3689	ORPHA:1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	HP:0040283 - Occasional		175
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.		175
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040282 - Frequent		175
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR3 CL E G H	2261	3690	ORPHA:15	Achondroplasia	HP:0040284 - Very rare		145
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA	HP:0040283 - Occasional		145
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR3 CL E G H	2261	3690	OMIM:616482	Achondroplasia, severe, with developmental delay and acanthosis nigricans	.		145
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR3 CL E G H	2261	3690	OMIM:612247	Crouzon syndrome with acanthosis nigricans	HP:0040283 - Occasional		145
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent		145
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR3 CL E G H	2261	3690	ORPHA:53271	Muenke syndrome	HP:0040283 - Occasional		145
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040283 - Occasional		145
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040283 - Occasional		145
HP:0002921	HP:0000238	Hydrocephalus	1	FGFR3 CL E G H	2261	3690	OMIM:187600	Thanatophoric dysplasia, type I	.		145
HP:0002921	HP:0000238	Hydrocephalus	1	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional
HP:0002921	HP:0000238	Hydrocephalus	1	FIG4 CL E G H	9896	16873	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		111
HP:0002921	HP:0000238	Hydrocephalus	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		157
HP:0002921	HP:0000238	Hydrocephalus	1	FKRP CL E G H	79147	17997	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		157
HP:0002921	HP:0000238	Hydrocephalus	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			157
HP:0002921	HP:0000238	Hydrocephalus	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.		157
HP:0002921	HP:0000238	Hydrocephalus	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		157
HP:0002921	HP:0000238	Hydrocephalus	1	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent		184
HP:0002921	HP:0000238	Hydrocephalus	1	FKTN CL E G H	2218	3622	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		184
HP:0002921	HP:0000238	Hydrocephalus	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			184
HP:0002921	HP:0000238	Hydrocephalus	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.		184
HP:0002921	HP:0000238	Hydrocephalus	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		184
HP:0002921	HP:0000238	Hydrocephalus	1	FLNA CL E G H	2316	3754	ORPHA:90652	Otopalatodigital syndrome type 2	HP:0040282 - Frequent		493
HP:0002921	HP:0000238	Hydrocephalus	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.		493
HP:0002921	HP:0000238	Hydrocephalus	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.		47
HP:0002921	HP:0000238	Hydrocephalus	1	FOXH1 CL E G H	8928	3814	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0002921	HP:0000238	Hydrocephalus	1	FOXH1 CL E G H	8928	3814	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0002921	HP:0000238	Hydrocephalus	1	FOXH1 CL E G H	8928	3814	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		48
HP:0002921	HP:0000238	Hydrocephalus	1	FOXH1 CL E G H	8928	3814	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		48
HP:0002921	HP:0000238	Hydrocephalus	1	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002921	HP:0000238	Hydrocephalus	1	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0002921	HP:0000238	Hydrocephalus	1	FRAS1 CL E G H	80144	19185	OMIM:219000	Fraser syndrome	.		353
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy			33
HP:0002921	HP:0000238	Hydrocephalus	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.		70
HP:0002921	HP:0000238	Hydrocephalus	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040282 - Frequent		3
HP:0002921	HP:0000238	Hydrocephalus	1	FUZ CL E G H	80199	26219	OMIM:182940	Neural tube defects, susceptibility to	.		3
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease			160
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease			160
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease			160
HP:0002921	HP:0000238	Hydrocephalus	1	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease			160
HP:0002921	HP:0000238	Hydrocephalus	1	GAS1 CL E G H	2619	4165	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0002921	HP:0000238	Hydrocephalus	1	GAS1 CL E G H	2619	4165	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0002921	HP:0000238	Hydrocephalus	1	GAS1 CL E G H	2619	4165	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		2
HP:0002921	HP:0000238	Hydrocephalus	1	GAS1 CL E G H	2619	4165	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		2
HP:0002921	HP:0000238	Hydrocephalus	1	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		1
HP:0002921	HP:0000238	Hydrocephalus	1	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		9
HP:0002921	HP:0000238	Hydrocephalus	1	GBA1 CL E G H	2629	4177	OMIM:231005	Gaucher disease, type IIIC	.
HP:0002921	HP:0000238	Hydrocephalus	1	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0002921	HP:0000238	Hydrocephalus	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I			115
HP:0002921	HP:0000238	Hydrocephalus	1	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency			115
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease			188
HP:0002921	HP:0000238	Hydrocephalus	1	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.		188
HP:0002921	HP:0000238	Hydrocephalus	1	GFAP CL E G H	2670	4235	ORPHA:363717	Alexander disease type I			188
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0002921	HP:0000238	Hydrocephalus	1	GLI2 CL E G H	2736	4318	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0002921	HP:0000238	Hydrocephalus	1	GLI2 CL E G H	2736	4318	OMIM:610829	Holoprosencephaly 9			173
HP:0002921	HP:0000238	Hydrocephalus	1	GLI2 CL E G H	2736	4318	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0002921	HP:0000238	Hydrocephalus	1	GLI2 CL E G H	2736	4318	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		173
HP:0002921	HP:0000238	Hydrocephalus	1	GLI2 CL E G H	2736	4318	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		173
HP:0002921	HP:0000238	Hydrocephalus	1	GLI3 CL E G H	2737	4319	ORPHA:380	Greig cephalopolysyndactyly syndrome	HP:0040283 - Occasional		270
HP:0002921	HP:0000238	Hydrocephalus	1	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome			270
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0002921	HP:0000238	Hydrocephalus	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		34
HP:0002921	HP:0000238	Hydrocephalus	1	GMPPB CL E G H	29925	22932	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		34
HP:0002921	HP:0000238	Hydrocephalus	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional		7
HP:0002921	HP:0000238	Hydrocephalus	1	GP1BB CL E G H	2812	4440	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		8
HP:0002921	HP:0000238	Hydrocephalus	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1			73
HP:0002921	HP:0000238	Hydrocephalus	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0002921	HP:0000238	Hydrocephalus	1	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS			74
HP:0002921	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS			32
HP:0002921	HP:0000238	Hydrocephalus	1	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.		54
HP:0002921	HP:0000238	Hydrocephalus	1	H4C9 CL E G H	8294	4793	OMIM:619951
HP:0002921	HP:0000238	Hydrocephalus	1	HBA1 CL E G H	3039	4823	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		200
HP:0002921	HP:0000238	Hydrocephalus	1	HBA2 CL E G H	3040	4824	ORPHA:163596	Hb Bart's hydrops fetalis	HP:0040282 - Frequent		88
HP:0002921	HP:0000238	Hydrocephalus	1	HCCS CL E G H	3052	4837	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		11
HP:0002921	HP:0000238	Hydrocephalus	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.		11
HP:0002921	HP:0000238	Hydrocephalus	1	HDAC6 CL E G H	10013	14064	OMIM:300863	Chondrodysplasia with platyspondyly, distinctive brachydactyly, hydrocephaly, and microphthalmia	.		2
HP:0002921	HP:0000238	Hydrocephalus	1	HDAC6 CL E G H	10013	14064	ORPHA:163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	HP:0040281 - Very frequent		2
HP:0002921	HP:0000238	Hydrocephalus	1	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome			6
HP:0002921	HP:0000238	Hydrocephalus	1	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	HP:0040283 - Occasional		16
HP:0002921	HP:0000238	Hydrocephalus	1	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome			16
HP:0002921	HP:0000238	Hydrocephalus	1	HIRA CL E G H	7290	4916	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		3
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis			2
HP:0002921	HP:0000238	Hydrocephalus	1	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040283 - Occasional		39
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002921	HP:0000238	Hydrocephalus	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.		113
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0002921	HP:0000238	Hydrocephalus	1	HSPG2 CL E G H	3339	5273	ORPHA:1865	Dyssegmental dysplasia, Silverman-Handmaker type	HP:0040283 - Occasional		345
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002921	HP:0000238	Hydrocephalus	1	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		21
HP:0002921	HP:0000238	Hydrocephalus	1	HYLS1 CL E G H	219844	26558	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		31
HP:0002921	HP:0000238	Hydrocephalus	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0002921	HP:0000238	Hydrocephalus	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		31
HP:0002921	HP:0000238	Hydrocephalus	1	IARS2 CL E G H	55699	29685	OMIM:616007	Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia			25
HP:0002921	HP:0000238	Hydrocephalus	1	IDS CL E G H	3423	5389	OMIM:309900	Mucopolysaccharidosis, type II	.		86
HP:0002921	HP:0000238	Hydrocephalus	1	IDUA CL E G H	3425	5391	ORPHA:93473	Hurler syndrome	HP:0040282 - Frequent		115
HP:0002921	HP:0000238	Hydrocephalus	1	IDUA CL E G H	3425	5391	OMIM:607014	Hurler syndrome	.		115
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002921	HP:0012229	CSF pleocytosis	1	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002921	HP:0000238	Hydrocephalus	1	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex			23
HP:0002921	HP:0000238	Hydrocephalus	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional		48
HP:0002921	HP:0000238	Hydrocephalus	1	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18			11
HP:0002921	HP:0030998	Cerebrospinal fluid rhinorrhoea	1	IGHG2 CL E G H	3501	5526	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			1
HP:0002921	HP:0030998	Cerebrospinal fluid rhinorrhoea	1	IGKC CL E G H	3514	5716	ORPHA:183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency			5
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0002921	HP:0000238	Hydrocephalus	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		111
HP:0002921	HP:0000238	Hydrocephalus	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		111
HP:0002921	HP:0000238	Hydrocephalus	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		111
HP:0002921	HP:0000238	Hydrocephalus	1	IRF4 CL E G H	3662	6119	ORPHA:3452	Whipple disease	HP:0040283 - Occasional		1
HP:0002921	HP:0000238	Hydrocephalus	1	JMJD1C CL E G H	221037	12313	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		2
HP:0002921	HP:0000238	Hydrocephalus	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional		283
HP:0002921	HP:0000238	Hydrocephalus	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional		283
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002921	HP:0000238	Hydrocephalus	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002921	HP:0000238	Hydrocephalus	1	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002921	HP:0000238	Hydrocephalus	1	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		53
HP:0002921	HP:0000238	Hydrocephalus	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1			53
HP:0002921	HP:0000238	Hydrocephalus	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		24
HP:0002921	HP:0000238	Hydrocephalus	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.		24
HP:0002921	HP:0000238	Hydrocephalus	1	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent		276
HP:0002921	HP:0000238	Hydrocephalus	1	KIF7 CL E G H	374654	30497	ORPHA:2189	Hydrolethalus	HP:0040281 - Very frequent		167
HP:0002921	HP:0000238	Hydrocephalus	1	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2	.		167
HP:0002921	HP:0000238	Hydrocephalus	1	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent		660
HP:0002921	HP:0000238	Hydrocephalus	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1			660
HP:0002921	HP:0000238	Hydrocephalus	1	KRAS CL E G H	3845	6407	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		196
HP:0002921	HP:0000238	Hydrocephalus	1	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.		134
HP:0002921	HP:0000238	Hydrocephalus	1	L1CAM CL E G H	3897	6470	OMIM:307000	Hydrocephalus due to congenital stenosis of aqueduct of sylvius	.		134
HP:0002921	HP:0000238	Hydrocephalus	1	L1CAM CL E G H	3897	6470	ORPHA:2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	HP:0040281 - Very frequent		134
HP:0002921	HP:0000238	Hydrocephalus	1	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.		134
HP:0002921	HP:0000238	Hydrocephalus	1	LAMB1 CL E G H	3912	6486	ORPHA:352682	Cobblestone lissencephaly without muscular or ocular involvement	HP:0040282 - Frequent		71
HP:0002921	HP:0000238	Hydrocephalus	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5			71
HP:0002921	HP:0000238	Hydrocephalus	1	LARGE1 CL E G H	9215	6511	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		136
HP:0002921	HP:0000238	Hydrocephalus	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			136
HP:0002921	HP:0000238	Hydrocephalus	1	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	.		136
HP:0002921	HP:0000238	Hydrocephalus	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		136
HP:0002921	HP:0000238	Hydrocephalus	1	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		2
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			1
HP:0002921	HP:0000238	Hydrocephalus	1	LIG4 CL E G H	3981	6601	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		88
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0002921	HP:0000238	Hydrocephalus	1	LMBR1 CL E G H	64327	13243	ORPHA:2378	Laurin-Sandrow syndrome	HP:0040283 - Occasional		106
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy			44
HP:0002921	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26			44
HP:0002921	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27			11
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0002921	HP:0000238	Hydrocephalus	1	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002921	HP:0012229	CSF pleocytosis	1	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002921	HP:0012229	CSF pleocytosis	1	LSM11 CL E G H	134353	30860	OMIM:619486	AICARDI-GOUTIERES SYNDROME 8; AGS8
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0002921	HP:0000238	Hydrocephalus	1	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1
HP:0002921	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1	MADD CL E G H	8567	6766	OMIM:619004	DEEAH SYNDROME; DEEAH			5
HP:0002921	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1	MADD CL E G H	8567	6766	OMIM:619005	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES, IMPAIRED SPEECH, AND HYPOTONIA; NEDDISH			5
HP:0002921	HP:0000238	Hydrocephalus	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent		21
HP:0002921	HP:0000238	Hydrocephalus	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form			136
HP:0002921	HP:0000238	Hydrocephalus	1	MAP2K1 CL E G H	5604	6840	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		134
HP:0002921	HP:0000238	Hydrocephalus	1	MAP2K2 CL E G H	5605	6842	ORPHA:1340	Cardiofaciocutaneous syndrome	HP:0040283 - Occasional		178
HP:0002921	HP:0000238	Hydrocephalus	1	MBTPS2 CL E G H	51360	15455	ORPHA:85284	BRESEK syndrome	HP:0040281 - Very frequent		22
HP:0002921	HP:0000238	Hydrocephalus	1	MC1R CL E G H	4157	6929	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional		124
HP:0002921	HP:0000238	Hydrocephalus	1	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		13
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0002921	HP:0000238	Hydrocephalus	1	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040283 - Occasional		228
HP:0002921	HP:0000238	Hydrocephalus	1	MED12 CL E G H	9968	11957	OMIM:305450	Opitz-Kaveggia syndrome	.		228
HP:0002921	HP:0000238	Hydrocephalus	1	MFN2 CL E G H	9927	16877	ORPHA:99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	HP:0040284 - Very rare		203
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002921	HP:0000238	Hydrocephalus	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		127
HP:0002921	HP:0000238	Hydrocephalus	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040283 - Occasional		127
HP:0002921	HP:0000238	Hydrocephalus	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		127
HP:0002921	HP:0000238	Hydrocephalus	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.		127
HP:0002921	HP:0000238	Hydrocephalus	1	MMACHC CL E G H	25974	24525	ORPHA:79282	Methylmalonic acidemia with homocystinuria, type cblC	HP:0040284 - Very rare		101
HP:0002921	HP:0000238	Hydrocephalus	1	MMACHC CL E G H	25974	24525	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.		101
HP:0002921	HP:0000238	Hydrocephalus	1	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies			29
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B			134
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			134
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0002921	HP:0000238	Hydrocephalus	1	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040284 - Very rare		183
HP:0002921	HP:0000238	Hydrocephalus	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked	.		185
HP:0002921	HP:0000238	Hydrocephalus	1	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional		88
HP:0002921	HP:0000238	Hydrocephalus	1	MUSK CL E G H	4593	7525	OMIM:208150	Fetal akinesia deformation sequence	.		72
HP:0002921	HP:0000238	Hydrocephalus	1	MYT1L CL E G H	23040	7623	OMIM:616521	Mental retardation, autosomal dominant 39			13
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy			31
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0002921	HP:0000238	Hydrocephalus	1	NDUFB11 CL E G H	54539	20372	ORPHA:2556	Microphthalmia with linear skin defects syndrome	HP:0040283 - Occasional		3
HP:0002921	HP:0000238	Hydrocephalus	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.		3
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy			65
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002921	HP:0000238	Hydrocephalus	1	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0000238	Hydrocephalus	1	NEU1 CL E G H	4758	7758	ORPHA:93400	Congenital sialidosis type 2	HP:0040283 - Occasional		43
HP:0002921	HP:0000238	Hydrocephalus	1	NF1 CL E G H	4763	7765	ORPHA:363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	HP:0040284 - Very rare		1952
HP:0002921	HP:0000238	Hydrocephalus	1	NF1 CL E G H	4763	7765	OMIM:162200	Neurofibromatosis, type I	.		1952
HP:0002921	HP:0000238	Hydrocephalus	1	NF2 CL E G H	4771	7773	ORPHA:2495	Meningioma	HP:0040283 - Occasional		220
HP:0002921	HP:0000238	Hydrocephalus	1	NF2 CL E G H	4771	7773	ORPHA:637	Neurofibromatosis type 2	HP:0040283 - Occasional		220
HP:0002921	HP:0000238	Hydrocephalus	1	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome			40
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002921	HP:0030981	Abnormal CSF/serum albumin ratio	1	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002921	HP:0000238	Hydrocephalus	1	NKX3-2 CL E G H	579	951	OMIM:613330	Spondylo-Megaepiphyseal-Metaphyseal dysplasia			10
HP:0002921	HP:0000238	Hydrocephalus	1	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		50
HP:0002921	HP:0000238	Hydrocephalus	1	NODAL CL E G H	4838	7865	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0002921	HP:0000238	Hydrocephalus	1	NODAL CL E G H	4838	7865	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0002921	HP:0000238	Hydrocephalus	1	NODAL CL E G H	4838	7865	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		45
HP:0002921	HP:0000238	Hydrocephalus	1	NODAL CL E G H	4838	7865	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		45
HP:0002921	HP:0000238	Hydrocephalus	1	NOTCH1 CL E G H	4851	7881	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		452
HP:0002921	HP:0000238	Hydrocephalus	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040283 - Occasional		138
HP:0002921	HP:0000238	Hydrocephalus	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.		138
HP:0002921	HP:0012229	CSF pleocytosis	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0002921	HP:0000238	Hydrocephalus	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		85
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0002921	HP:0000238	Hydrocephalus	1	NRAS CL E G H	4893	7989	ORPHA:626	Large congenital melanocytic nevus	HP:0040283 - Occasional		102
HP:0002921	HP:0000238	Hydrocephalus	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional		102
HP:0002921	HP:0000238	Hydrocephalus	1	NRCAM CL E G H	4897	7994	OMIM:619833				2
HP:0002921	HP:0000238	Hydrocephalus	1	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	HP:0040283 - Occasional		118
HP:0002921	HP:0000238	Hydrocephalus	1	NSUN2 CL E G H	54888	25994	ORPHA:235	Dubowitz syndrome	HP:0040283 - Occasional		84
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria			23
HP:0002921	HP:0000238	Hydrocephalus	1	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0000238	Hydrocephalus	1	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0000238	Hydrocephalus	1	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0000238	Hydrocephalus	1	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0000238	Hydrocephalus	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I	.		201
HP:0002921	HP:0000238	Hydrocephalus	1	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		201
HP:0002921	HP:0000238	Hydrocephalus	1	OGDH CL E G H	4967	8124	ORPHA:31	Oxoglutaric aciduria	HP:0040282 - Frequent
HP:0002921	HP:0000238	Hydrocephalus	1	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5	.		73
HP:0002921	HP:0000238	Hydrocephalus	1	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome			2
HP:0002921	HP:0000238	Hydrocephalus	1	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.		2
HP:0002921	HP:0000238	Hydrocephalus	1	PAK2 CL E G H	5062	8591	ORPHA:1571	Knobloch syndrome	HP:0040282 - Frequent
HP:0002921	HP:0000238	Hydrocephalus	1	PAK3 CL E G H	5063	8592	OMIM:300558	MENTAL RETARDATION, X-LINKED 30; MRX30			27
HP:0002921	HP:0000238	Hydrocephalus	1	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		1349
HP:0002921	HP:0000238	Hydrocephalus	1	PDGFB CL E G H	5155	8800	ORPHA:2495	Meningioma	HP:0040283 - Occasional		9
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002921	HP:0000238	Hydrocephalus	1	PEX19 CL E G H	5824	9713	OMIM:614886	Peroxisome biogenesis disorder 12A (Zellweger)	.		62
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease			72
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease			45
HP:0002921	HP:0000238	Hydrocephalus	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		4
HP:0002921	HP:0000238	Hydrocephalus	1	PIEZO2 CL E G H	63895	26270	ORPHA:2461	Marden-Walker syndrome	HP:0040283 - Occasional		77
HP:0002921	HP:0000238	Hydrocephalus	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002921	HP:0000238	Hydrocephalus	1	PIGV CL E G H	55650	26031	OMIM:239300	Hyperphosphatasia with mental retardation			57
HP:0002921	HP:0000238	Hydrocephalus	1	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.		162
HP:0002921	HP:0000238	Hydrocephalus	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent		162
HP:0002921	HP:0000238	Hydrocephalus	1	PIK3CA CL E G H	5290	8975	ORPHA:2495	Meningioma	HP:0040283 - Occasional		162
HP:0002921	HP:0000238	Hydrocephalus	1	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome	.		12
HP:0002921	HP:0000238	Hydrocephalus	1	PIK3R2 CL E G H	5296	8980	ORPHA:83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	HP:0040281 - Very frequent		12
HP:0002921	HP:0000238	Hydrocephalus	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002921	HP:0000238	Hydrocephalus	1	PLCH1 CL E G H	23007	29185	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional
HP:0002921	HP:0000238	Hydrocephalus	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional		11
HP:0002921	HP:0000238	Hydrocephalus	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.		11
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			79
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)			464
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			464
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive			464
HP:0002921	HP:0000238	Hydrocephalus	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.		138
HP:0002921	HP:0000238	Hydrocephalus	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent		138
HP:0002921	HP:0000238	Hydrocephalus	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		180
HP:0002921	HP:0000238	Hydrocephalus	1	POMGNT1 CL E G H	55624	19139	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		180
HP:0002921	HP:0000238	Hydrocephalus	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3			180
HP:0002921	HP:0000238	Hydrocephalus	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		180
HP:0002921	HP:0000238	Hydrocephalus	1	POMGNT2 CL E G H	84892	25902	OMIM:614830	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8	.		33
HP:0002921	HP:0000238	Hydrocephalus	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		33
HP:0002921	HP:0000238	Hydrocephalus	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		18
HP:0002921	HP:0000238	Hydrocephalus	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	HP:0040283 - Occasional		18
HP:0002921	HP:0000238	Hydrocephalus	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		18
HP:0002921	HP:0000238	Hydrocephalus	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		213
HP:0002921	HP:0000238	Hydrocephalus	1	POMT1 CL E G H	10585	9202	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		213
HP:0002921	HP:0000238	Hydrocephalus	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			213
HP:0002921	HP:0000238	Hydrocephalus	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1			213
HP:0002921	HP:0000238	Hydrocephalus	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		213
HP:0002921	HP:0000238	Hydrocephalus	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent		221
HP:0002921	HP:0000238	Hydrocephalus	1	POMT2 CL E G H	29954	19743	ORPHA:588	Muscle-eye-brain disease	HP:0040281 - Very frequent		221
HP:0002921	HP:0000238	Hydrocephalus	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1			221
HP:0002921	HP:0000238	Hydrocephalus	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2			221
HP:0002921	HP:0000238	Hydrocephalus	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent		221
HP:0002921	HP:0000238	Hydrocephalus	1	POR CL E G H	5447	9208	OMIM:207410	Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis	.		76
HP:0002921	HP:0000238	Hydrocephalus	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040283 - Occasional		76
HP:0002921	HP:0000238	Hydrocephalus	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.		20
HP:0002921	HP:0000238	Hydrocephalus	1	PPP1CB CL E G H	5500	9282	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent		9
HP:0002921	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002921	HP:0000238	Hydrocephalus	1	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.		13
HP:0002921	HP:0000238	Hydrocephalus	1	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040283 - Occasional		13
HP:0002921	HP:0000238	Hydrocephalus	1	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.		10
HP:0002921	HP:0000238	Hydrocephalus	1	PRDX1 CL E G H	5052	9352	OMIM:277400	Methylmalonic aciduria and homocystinuria, Cblc type	.
HP:0002921	HP:0012229	CSF pleocytosis	1	PRF1 CL E G H	5551	9360	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		58
HP:0002921	HP:0012229	CSF pleocytosis	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002921	HP:0000238	Hydrocephalus	1	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance	.		134
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease			69
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease			69
HP:0002921	HP:0012229	CSF pleocytosis	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine			94
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas			170
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease			81
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form			81
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form			81
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form			81
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0002921	HP:0000238	Hydrocephalus	1	PTCH1 CL E G H	5727	9585	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0002921	HP:0000238	Hydrocephalus	1	PTCH1 CL E G H	5727	9585	OMIM:109400	Basal cell nevus syndrome			665
HP:0002921	HP:0000238	Hydrocephalus	1	PTCH1 CL E G H	5727	9585	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		665
HP:0002921	HP:0000238	Hydrocephalus	1	PTCH1 CL E G H	5727	9585	OMIM:610828	Holoprosencephaly 7			665
HP:0002921	HP:0000238	Hydrocephalus	1	PTCH1 CL E G H	5727	9585	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0002921	HP:0000238	Hydrocephalus	1	PTCH1 CL E G H	5727	9585	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		665
HP:0002921	HP:0000238	Hydrocephalus	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent		665
HP:0002921	HP:0000238	Hydrocephalus	1	PTCH1 CL E G H	5727	9585	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		665
HP:0002921	HP:0000238	Hydrocephalus	1	PTCH2 CL E G H	8643	9586	OMIM:109400	Basal cell nevus syndrome			40
HP:0002921	HP:0000238	Hydrocephalus	1	PTCH2 CL E G H	8643	9586	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		40
HP:0002921	HP:0000238	Hydrocephalus	1	PTDSS1 CL E G H	9791	9587	ORPHA:2658	Lenz-Majewski hyperostotic dwarfism	HP:0040283 - Occasional		6
HP:0002921	HP:0000238	Hydrocephalus	1	PTEN CL E G H	5728	9588	ORPHA:65285	Lhermitte-Duclos disease	HP:0040281 - Very frequent		948
HP:0002921	HP:0000238	Hydrocephalus	1	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040282 - Frequent		948
HP:0002921	HP:0000238	Hydrocephalus	1	PYCR1 CL E G H	5831	9721	OMIM:612940	Cutis laxa, autosomal recessive, type IIB	.		53
HP:0002921	HP:0000238	Hydrocephalus	1	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF			1
HP:0002921	HP:0000238	Hydrocephalus	1	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		9
HP:0002921	HP:0000238	Hydrocephalus	1	RAD51 CL E G H	5888	9817	OMIM:617244	Fanconi anemia, complementation group R	.		9
HP:0002921	HP:0000238	Hydrocephalus	1	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		391
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3			57
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy			57
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0002921	HP:0000238	Hydrocephalus	1	RASA1 CL E G H	5921	9871	ORPHA:137667	Capillary malformation-arteriovenous malformation	HP:0040284 - Very rare		88
HP:0002921	HP:0000238	Hydrocephalus	1	RBPJ CL E G H	3516	5724	ORPHA:974	Adams-Oliver syndrome	HP:0040282 - Frequent		3
HP:0002921	HP:0000238	Hydrocephalus	1	RECQL4 CL E G H	9401	9949	OMIM:218600	Baller-Gerold syndrome	.		445
HP:0002921	HP:0000238	Hydrocephalus	1	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0002921	HP:0012229	CSF pleocytosis	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002921	HP:0000238	Hydrocephalus	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.		33
HP:0002921	HP:0012229	CSF pleocytosis	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4			33
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002921	HP:0012229	CSF pleocytosis	1	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002921	HP:0012229	CSF pleocytosis	1	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2			34
HP:0002921	HP:0012229	CSF pleocytosis	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002921	HP:0012229	CSF pleocytosis	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3			60
HP:0002921	HP:0000238	Hydrocephalus	1	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.		5
HP:0002921	HP:0000238	Hydrocephalus	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I			15
HP:0002921	HP:0012229	CSF pleocytosis	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002921	HP:0000238	Hydrocephalus	1	ROGDI CL E G H	79641	29478	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040283 - Occasional		57
HP:0002921	HP:0000238	Hydrocephalus	1	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		200
HP:0002921	HP:0000238	Hydrocephalus	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		109
HP:0002921	HP:0000238	Hydrocephalus	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		167
HP:0002921	HP:0000238	Hydrocephalus	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		167
HP:0002921	HP:0000238	Hydrocephalus	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		167
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0002921	HP:0000238	Hydrocephalus	1	RREB1 CL E G H	6239	10449	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			125
HP:0002921	HP:0000238	Hydrocephalus	1	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		31
HP:0002921	HP:0000238	Hydrocephalus	1	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		5
HP:0002921	HP:0000238	Hydrocephalus	1	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		58
HP:0002921	HP:0000238	Hydrocephalus	1	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0002921	HP:0000238	Hydrocephalus	1	RSPO2 CL E G H	340419	28583	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0000238	Hydrocephalus	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0000238	Hydrocephalus	1	SALL1 CL E G H	6299	10524	OMIM:107480	Townes-Brocks syndrome 1			124
HP:0002921	HP:0000238	Hydrocephalus	1	SAMD9 CL E G H	54809	1348	OMIM:617053	Mirage syndrome	HP:0040283 - Occasional		8
HP:0002921	HP:0012229	CSF pleocytosis	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002921	HP:0012229	CSF pleocytosis	1	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5			55
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine			1053
HP:0002921	HP:0012229	CSF pleocytosis	1	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy			40
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0002921	HP:0000238	Hydrocephalus	1	SEC24C CL E G H	9632	10705	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002921	HP:0000238	Hydrocephalus	1	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome			5
HP:0002921	HP:0000238	Hydrocephalus	1	SEC24D CL E G H	9871	10706	OMIM:616294	Cole-Carpenter syndrome 2	.		5
HP:0002921	HP:0000238	Hydrocephalus	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.		2
HP:0002921	HP:0000238	Hydrocephalus	1	SF3B4 CL E G H	10262	10771	OMIM:154400	Acrofacial dysostosis 1, Nager type	.		49
HP:0002921	HP:0000238	Hydrocephalus	1	SHH CL E G H	6469	10848	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0002921	HP:0000238	Hydrocephalus	1	SHH CL E G H	6469	10848	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0002921	HP:0000238	Hydrocephalus	1	SHH CL E G H	6469	10848	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		67
HP:0002921	HP:0000238	Hydrocephalus	1	SHH CL E G H	6469	10848	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		67
HP:0002921	HP:0000238	Hydrocephalus	1	SHOC2 CL E G H	8036	15454	ORPHA:2701	Noonan syndrome-like disorder with loose anagen hair	HP:0040282 - Frequent		74
HP:0002921	HP:0000238	Hydrocephalus	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0002921	HP:0000238	Hydrocephalus	1	SIX3 CL E G H	6496	10889	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002921	HP:0000238	Hydrocephalus	1	SIX3 CL E G H	6496	10889	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002921	HP:0000238	Hydrocephalus	1	SIX3 CL E G H	6496	10889	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0002921	HP:0000238	Hydrocephalus	1	SIX3 CL E G H	6496	10889	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002921	HP:0000238	Hydrocephalus	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome			150
HP:0002921	HP:0000238	Hydrocephalus	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome			150
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy			163
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate			2
HP:0002921	HP:0012229	CSF pleocytosis	1	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate			2
HP:0002921	HP:0000238	Hydrocephalus	1	SLC13A5 CL E G H	284111	23089	ORPHA:1946	Amelocerebrohypohidrotic syndrome	HP:0040283 - Occasional		73
HP:0002921	HP:0000238	Hydrocephalus	1	SLC17A5 CL E G H	26503	10933	OMIM:269920	Infantile sialic acid storage disease	.		78
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)			36
HP:0002921	HP:0000238	Hydrocephalus	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0002921	HP:0000238	Hydrocephalus	1	SLC29A3 CL E G H	55315	23096	ORPHA:168569	H syndrome	HP:0040283 - Occasional		68
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002921	HP:0000238	Hydrocephalus	1	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1			13
HP:0002921	HP:0000238	Hydrocephalus	1	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		274
HP:0002921	HP:0000238	Hydrocephalus	1	SMARCB1 CL E G H	6598	11103	ORPHA:99966	Atypical teratoid rhabdoid tumor	HP:0040282 - Frequent		87
HP:0002921	HP:0000238	Hydrocephalus	1	SMARCB1 CL E G H	6598	11103	ORPHA:2495	Meningioma	HP:0040283 - Occasional		87
HP:0002921	HP:0000238	Hydrocephalus	1	SMARCE1 CL E G H	6605	11109	ORPHA:2495	Meningioma	HP:0040283 - Occasional		47
HP:0002921	HP:0000238	Hydrocephalus	1	SMC1A CL E G H	8243	11111	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		135
HP:0002921	HP:0000238	Hydrocephalus	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included	.		22
HP:0002921	HP:0000238	Hydrocephalus	1	SMO CL E G H	6608	11119	ORPHA:2495	Meningioma	HP:0040283 - Occasional		22
HP:0002921	HP:0000238	Hydrocephalus	1	SMOC1 CL E G H	64093	20318	ORPHA:1106	Microphthalmia with limb anomalies	HP:0040283 - Occasional		15
HP:0002921	HP:0000238	Hydrocephalus	1	SNX10 CL E G H	29887	14974	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		2
HP:0002921	HP:0000238	Hydrocephalus	1	SOX2 CL E G H	6657	11195	ORPHA:77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	HP:0040283 - Occasional		33
HP:0002921	HP:0000238	Hydrocephalus	1	SOX9 CL E G H	6662	11204	OMIM:114290	Campomelic dysplasia	.		109
HP:0002921	HP:0000238	Hydrocephalus	1	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		45
HP:0002921	HP:0000238	Hydrocephalus	1	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		15
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002921	HP:0000238	Hydrocephalus	1	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002921	HP:0000238	Hydrocephalus	1	STAG2 CL E G H	10735	11355	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002921	HP:0000238	Hydrocephalus	1	STAG2 CL E G H	10735	11355	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44			9
HP:0002921	HP:0000238	Hydrocephalus	1	STIL CL E G H	6491	10879	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0002921	HP:0000238	Hydrocephalus	1	STIL CL E G H	6491	10879	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0002921	HP:0000238	Hydrocephalus	1	STIL CL E G H	6491	10879	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		99
HP:0002921	HP:0000238	Hydrocephalus	1	STIL CL E G H	6491	10879	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		99
HP:0002921	HP:0000238	Hydrocephalus	1	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		3
HP:0002921	HP:0012229	CSF pleocytosis	1	STX11 CL E G H	8676	11429	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		85
HP:0002921	HP:0012229	CSF pleocytosis	1	STXBP2 CL E G H	6813	11445	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		70
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0002921	HP:0000238	Hydrocephalus	1	SUFU CL E G H	51684	16466	OMIM:109400	Basal cell nevus syndrome			124
HP:0002921	HP:0000238	Hydrocephalus	1	SUFU CL E G H	51684	16466	ORPHA:377	Gorlin syndrome	HP:0040283 - Occasional		124
HP:0002921	HP:0000238	Hydrocephalus	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		124
HP:0002921	HP:0000238	Hydrocephalus	1	SUFU CL E G H	51684	16466	ORPHA:2495	Meningioma	HP:0040283 - Occasional		124
HP:0002921	HP:0000238	Hydrocephalus	1	SUMF1 CL E G H	285362	20376	ORPHA:585	Multiple sulfatase deficiency	HP:0040282 - Frequent		80
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency			80
HP:0002921	HP:0000238	Hydrocephalus	1	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy			73
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0002921	HP:0000238	Hydrocephalus	1	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40			7
HP:0002921	HP:0000238	Hydrocephalus	1	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040283 - Occasional		7
HP:0002921	HP:0000238	Hydrocephalus	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002921	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3			13
HP:0002921	HP:0012229	CSF pleocytosis	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0002921	HP:0000238	Hydrocephalus	1	TBX1 CL E G H	6899	11592	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional		32
HP:0002921	HP:0000238	Hydrocephalus	1	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.		5
HP:0002921	HP:0000238	Hydrocephalus	1	TBXT CL E G H	6862	11515	OMIM:182940	Neural tube defects, susceptibility to	.
HP:0002921	HP:0000238	Hydrocephalus	1	TCIRG1 CL E G H	10312	11647	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		82
HP:0002921	HP:0000238	Hydrocephalus	1	TCIRG1 CL E G H	10312	11647	OMIM:259700	Osteopetrosis, autosomal recessive 1			82
HP:0002921	HP:0000238	Hydrocephalus	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		45
HP:0002921	HP:0000238	Hydrocephalus	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0002921	HP:0000238	Hydrocephalus	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		76
HP:0002921	HP:0000238	Hydrocephalus	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		76
HP:0002921	HP:0000238	Hydrocephalus	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		31
HP:0002921	HP:0000238	Hydrocephalus	1	TDGF1 CL E G H	6997	11701	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002921	HP:0000238	Hydrocephalus	1	TDGF1 CL E G H	6997	11701	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002921	HP:0000238	Hydrocephalus	1	TDGF1 CL E G H	6997	11701	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		1
HP:0002921	HP:0000238	Hydrocephalus	1	TDGF1 CL E G H	6997	11701	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		1
HP:0002921	HP:0000238	Hydrocephalus	1	TERT CL E G H	7015	11730	ORPHA:2495	Meningioma	HP:0040283 - Occasional		238
HP:0002921	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0002921	HP:0000238	Hydrocephalus	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1			239
HP:0002921	HP:0000238	Hydrocephalus	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2			253
HP:0002921	HP:0000238	Hydrocephalus	1	TGIF1 CL E G H	7050	11776	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002921	HP:0000238	Hydrocephalus	1	TGIF1 CL E G H	7050	11776	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002921	HP:0000238	Hydrocephalus	1	TGIF1 CL E G H	7050	11776	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		32
HP:0002921	HP:0000238	Hydrocephalus	1	TGIF1 CL E G H	7050	11776	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		32
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive			80
HP:0002921	HP:0012229	CSF pleocytosis	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0002921	HP:0012229	CSF pleocytosis	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		4
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		39
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.		45
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		45
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		45
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM222 CL E G H	84065	25363	OMIM:619470	NEURODEVELOPMENTAL DISORDER WITH MOTOR AND SPEECH DELAY AND BEHAVIORAL ABNORMALITIES; NEDMOSBA
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		33
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		33
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		82
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.		82
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		82
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040283 - Occasional		82
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		82
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional		166
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040283 - Occasional		166
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		166
HP:0002921	HP:0000238	Hydrocephalus	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3	HP:0040283 - Occasional		166
HP:0002921	HP:0000238	Hydrocephalus	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7			72
HP:0002921	HP:0000238	Hydrocephalus	1	TNFSF11 CL E G H	8600	11926	ORPHA:667	Autosomal recessive malignant osteopetrosis	HP:0040281 - Very frequent		44
HP:0002921	HP:0000238	Hydrocephalus	1	TNFSF11 CL E G H	8600	11926	OMIM:259710	Osteopetrosis, autosomal recessive 2			44
HP:0002921	HP:0000238	Hydrocephalus	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7			6
HP:0002921	HP:0000238	Hydrocephalus	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040283 - Occasional
HP:0002921	HP:0000238	Hydrocephalus	1	TP53 CL E G H	7157	11998	OMIM:260500	Papilloma of choroid plexus	.		911
HP:0002921	HP:0000238	Hydrocephalus	1	TP53 CL E G H	7157	11998	ORPHA:2807	Papilloma of choroid plexus	HP:0040281 - Very frequent		911
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0002921	HP:0012229	CSF pleocytosis	1	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0002921	HP:0000238	Hydrocephalus	1	TRAF7 CL E G H	84231	20456	ORPHA:2495	Meningioma	HP:0040283 - Occasional
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0002921	HP:0000238	Hydrocephalus	1	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040283 - Occasional		31
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002921	HP:0012229	CSF pleocytosis	1	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002921	HP:0012229	CSF pleocytosis	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002921	HP:0000238	Hydrocephalus	1	TRIM71 CL E G H	131405	32669	OMIM:618667	HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1
HP:0002921	HP:0000238	Hydrocephalus	1	TRMT1 CL E G H	55621	25980	OMIM:618302	Intellectual developmental disorder, autosomal recessive 68			1
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0002921	HP:0000238	Hydrocephalus	1	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0000238	Hydrocephalus	1	TRPV4 CL E G H	59341	18083	ORPHA:2635	Metatropic dysplasia	HP:0040283 - Occasional		214
HP:0002921	HP:0000238	Hydrocephalus	1	TSC1 CL E G H	7248	12362	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		1090
HP:0002921	HP:0000238	Hydrocephalus	1	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex			1090
HP:0002921	HP:0000238	Hydrocephalus	1	TSC2 CL E G H	7249	12363	ORPHA:538	Lymphangioleiomyomatosis	HP:0040283 - Occasional		2738
HP:0002921	HP:0000238	Hydrocephalus	1	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex			2738
HP:0002921	HP:0012510	Extra-axial cerebrospinal fluid accumulation	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F			3
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0002921	HP:0000238	Hydrocephalus	1	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002921	HP:0000238	Hydrocephalus	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related			107
HP:0002921	HP:0000238	Hydrocephalus	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation			64
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0002921	HP:0000238	Hydrocephalus	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional		2
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy			138
HP:0002921	HP:0000238	Hydrocephalus	1	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040283 - Occasional		22
HP:0002921	HP:0000238	Hydrocephalus	1	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		2
HP:0002921	HP:0000238	Hydrocephalus	1	UFD1 CL E G H	7353	12520	ORPHA:567	22q11.2 deletion syndrome	HP:0040283 - Occasional
HP:0002921	HP:0012229	CSF pleocytosis	1	UNC13D CL E G H	201294	23147	ORPHA:540	Familial hemophagocytic lymphohistiocytosis	HP:0040282 - Frequent		116
HP:0002921	HP:0000238	Hydrocephalus	1	UNC45A CL E G H	55898	30594	OMIM:619377	OSTEOOTOHEPATOENTERIC SYNDROME; OOHE
HP:0002921	HP:0025456	Abnormal CSF protein concentration	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0002921	HP:0012229	CSF pleocytosis	1	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0002921	HP:0025454	Abnormal CSF metabolite concentration	1	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0002921	HP:0000238	Hydrocephalus	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional		2
HP:0002921	HP:0000238	Hydrocephalus	1	VAC14 CL E G H	55697	25507	ORPHA:3472	Yunis-Varon syndrome	HP:0040283 - Occasional		6
HP:0002921	HP:0000238	Hydrocephalus	1	VANGL1 CL E G H	81839	15512	OMIM:182940	Neural tube defects, susceptibility to	.		111
HP:0002921	HP:0000238	Hydrocephalus	1	VANGL1 CL E G H	81839	15512	OMIM:600145	Sacral defect with anterior meningocele			111
HP:0002921	HP:0000238	Hydrocephalus	1	VANGL2 CL E G H	57216	15511	OMIM:182940	Neural tube defects, susceptibility to	.		2
HP:0002921	HP:0000238	Hydrocephalus	1	VPS33A CL E G H	65082	18179	ORPHA:505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	HP:0040283 - Occasional		1
HP:0002921	HP:0000238	Hydrocephalus	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome	.		47
HP:0002921	HP:0000238	Hydrocephalus	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent		83
HP:0002921	HP:0000238	Hydrocephalus	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.		83
HP:0002921	HP:0000238	Hydrocephalus	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.		27
HP:0002921	HP:0000238	Hydrocephalus	1	WNT3 CL E G H	7473	12782	OMIM:273395	Tetraamelia, autosomal recessive	.		12
HP:0002921	HP:0000238	Hydrocephalus	1	WNT3 CL E G H	7473	12782	ORPHA:3301	Tetraamelia-multiple malformations syndrome	HP:0040281 - Very frequent		12
HP:0002921	HP:0000238	Hydrocephalus	1	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional		125
HP:0002921	HP:0000238	Hydrocephalus	1	ZBTB20 CL E G H	26137	13503	ORPHA:3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	HP:0040281 - Very frequent		17
HP:0002921	HP:0000238	Hydrocephalus	1	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome			9
HP:0002921	HP:0000238	Hydrocephalus	1	ZIC2 CL E G H	7546	12873	ORPHA:93925	Alobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0002921	HP:0000238	Hydrocephalus	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5	.		34
HP:0002921	HP:0000238	Hydrocephalus	1	ZIC2 CL E G H	7546	12873	ORPHA:93924	Lobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0002921	HP:0000238	Hydrocephalus	1	ZIC2 CL E G H	7546	12873	ORPHA:93926	Midline interhemispheric variant of holoprosencephaly	HP:0040283 - Occasional		34
HP:0002921	HP:0000238	Hydrocephalus	1	ZIC2 CL E G H	7546	12873	ORPHA:220386	Semilobar holoprosencephaly	HP:0040283 - Occasional		34
HP:0002921	HP:0000238	Hydrocephalus	1	ZIC3 CL E G H	7547	12874	OMIM:306955	Heterotaxy, visceral, 1, X-linked			39
HP:0002921	HP:0000238	Hydrocephalus	1	ZIC3 CL E G H	7547	12874	OMIM:314390	VACTERL association, X-linked	.		39
HP:0002921	HP:0000238	Hydrocephalus	1	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare		20
HP:0002921	HP:0000238	Hydrocephalus	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040283 - Occasional		49
HP:0002921	HP:0000238	Hydrocephalus	1	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent		1
HP:0002921	HP:0000238	Hydrocephalus	1	ZPR1 CL E G H	8882	13051	OMIM:619321	GROWTH RESTRICTION, HYPOPLASTIC KIDNEYS, ALOPECIA, AND DISTINCTIVE FACIES; GKAF
HP:0002921	HP:0034406	Elevated CSF angiotensin-converting enzyme concentration	2	CL E G H
HP:0002921	HP:0012654	Abnormal CSF dopamine concentration	2	CL E G H
HP:0002921	HP:0032928	Elevated CSF neurofilamant light chain concentration	2	CL E G H
HP:0002921	HP:0030860	Abnormal CSF amyloid concentration	2	CL E G H
HP:0002921	HP:0032652	Elevated CSF chitotriosidase 1 concentration	2	CL E G H
HP:0002921	HP:0034462	Increased CSF L-alloisoleucine concentration	2	CL E G H
HP:0002921	HP:0500117	Abnormal CSF urate concentration	2	CL E G H
HP:0002921	HP:0032651	Elevated CSF chitinase-3-like protein 1 concentration	2	CL E G H
HP:0002921	HP:0025459	Increased CSF/serum albumin ratio	2	CL E G H
HP:0002921	HP:0034460	Increased CSF uracil concentration	2	CL E G H
HP:0002921	HP:0025688	Abnormal amyloid beta peptide CSF concentration	2	CL E G H
HP:0002921	HP:0410312	Hypersegmentation of neutrophil nuclei in CSF	2	CL E G H
HP:0002921	HP:0032650	Elevated CSF glial fibrillary acidic protein concentration	2	CL E G H
HP:0002921	HP:0012756	CSF polymorphonuclear pleocytosis	2	CL E G H
HP:0002921	HP:0034455	Increased CSF taurine concentration	2	CL E G H
HP:0002921	HP:0410311	Hyposegmentation of neutrophil nuclei in CSF	2	CL E G H
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0002921	HP:0002922	Increased CSF protein concentration	2	ABHD5 CL E G H	51099	21396	ORPHA:98907	Neutral lipid storage disease with ichthyosis	HP:0040282 - Frequent		90
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome			116
HP:0002921	HP:0009709	Increased CSF interferon alpha	2	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		116
HP:0002921	HP:0009709	Increased CSF interferon alpha	2	ADAR CL E G H	103	225	OMIM:615010	Aicardi-Goutieres syndrome 6			116
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6			60
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy			60
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2			74
HP:0002921	HP:0002922	Increased CSF protein concentration	2	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040282 - Frequent		74
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency			108
HP:0002921	HP:0002922	Increased CSF protein concentration	2	ARSA CL E G H	410	713	OMIM:250100	Metachromatic leukodystrophy	.		253
HP:0002921	HP:0002922	Increased CSF protein concentration	2	ARSA CL E G H	410	713	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		253
HP:0002921	HP:0002922	Increased CSF protein concentration	2	ARSA CL E G H	410	713	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		253
HP:0002921	HP:0002922	Increased CSF protein concentration	2	ARSA CL E G H	410	713	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		253
HP:0002921	HP:0032274	Increased CSF N-acetylaspartic acid concentration	2	ASPA CL E G H	443	756	OMIM:271900	Canavan disease	.		48
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0002921	HP:0002922	Increased CSF protein concentration	2	ATP1A2 CL E G H	477	800	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		239
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0002921	HP:0001334	Communicating hydrocephalus	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13			17
HP:0002921	HP:0002922	Increased CSF protein concentration	2	BCAT2 CL E G H	587	977	OMIM:618850	HYPERVALINEMIA AND HYPERLEUCINE-ISOLEUCINEMIA; HVLI
HP:0002921	HP:0010953	Noncommunicating hydrocephalus	2	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12			2
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002921	HP:0002922	Increased CSF protein concentration	2	BTNL2 CL E G H	56244	1142	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		1
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0002921	HP:0002922	Increased CSF protein concentration	2	CACNA1A CL E G H	773	1388	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		449
HP:0002921	HP:0002922	Increased CSF protein concentration	2	CD59 CL E G H	966	1689	OMIM:612300	Hemolytic anemia, CD59-mediated, with or without immune-mediated polyneuropathy	.		3
HP:0002921	HP:0001334	Communicating hydrocephalus	2	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002921	HP:0001334	Communicating hydrocephalus	2	CDCA7 CL E G H	83879	14628	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		4
HP:0002921	HP:0041043	Neutrophil nuclear clefts	2	CEBPE CL E G H	1053	1836	OMIM:245480	Specific granule deficiency	.		3
HP:0002921	HP:0002343	Normal pressure hydrocephalus	2	CFAP43 CL E G H	80217	26684	OMIM:236690	Hydrocephalus, normal pressure, 1			6
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency			136
HP:0002921	HP:0002922	Increased CSF protein concentration	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	COX1 CL E G H	4512	7419	ORPHA:550	MELAS
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy			104
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS
HP:0002921	HP:0002922	Increased CSF protein concentration	2	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0002921	HP:0002922	Increased CSF protein concentration	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	COX3 CL E G H	4514	7422	ORPHA:550	MELAS
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0002921	HP:0033503	Elevated CSF fumarate concentration	2	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome			60
HP:0002921	HP:0034200	Abnormal CSF homovanillic acid concentration	2	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002921	HP:0001334	Communicating hydrocephalus	2	DNAI1 CL E G H	27019	2954	OMIM:244400	Ciliary dyskinesia, primary, 1	.		73
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0002921	HP:0001334	Communicating hydrocephalus	2	DNMT3B CL E G H	1789	2979	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		79
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy			33
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency			33
HP:0002921	HP:0002922	Increased CSF protein concentration	2	EGR2 CL E G H	1959	3239	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		58
HP:0002921	HP:0002343	Normal pressure hydrocephalus	2	ERCC6 CL E G H	2074	3438	OMIM:133540	Cockayne syndrome, type B	.		199
HP:0002921	HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	2	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome			199
HP:0002921	HP:0002343	Normal pressure hydrocephalus	2	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A	.		55
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0002921	HP:0001334	Communicating hydrocephalus	2	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		1361
HP:0002921	HP:0010953	Noncommunicating hydrocephalus	2	FOXJ1 CL E G H	2302	3816	OMIM:618699	CILIARY DYSKINESIA, PRIMARY, 43; CILD43
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency			61
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy			61
HP:0002921	HP:0002922	Increased CSF protein concentration	2	FTL CL E G H	2512	3999	ORPHA:157846	Neuroferritinopathy	HP:0040284 - Very rare		33
HP:0002921	HP:0002922	Increased CSF protein concentration	2	GALC CL E G H	2581	4115	ORPHA:206448	Adult Krabbe disease	HP:0040282 - Frequent		160
HP:0002921	HP:0002922	Increased CSF protein concentration	2	GALC CL E G H	2581	4115	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		160
HP:0002921	HP:0002922	Increased CSF protein concentration	2	GALC CL E G H	2581	4115	OMIM:245200	Krabbe disease	.		160
HP:0002921	HP:0002922	Increased CSF protein concentration	2	GALC CL E G H	2581	4115	ORPHA:206443	Late-infantile/juvenile Krabbe disease	HP:0040281 - Very frequent		160
HP:0002921	HP:0002922	Increased CSF protein concentration	2	GBE1 CL E G H	2632	4180	OMIM:263570	Polyglucosan body neuropathy, adult form			86
HP:0002921	HP:0001334	Communicating hydrocephalus	2	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040282 - Frequent		115
HP:0002921	HP:0034200	Abnormal CSF homovanillic acid concentration	2	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			86
HP:0002921	HP:0002922	Increased CSF protein concentration	2	GFAP CL E G H	2670	4235	OMIM:203450	Alexander disease	.		188
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1			85
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39			43
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39			43
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0002921	HP:0001334	Communicating hydrocephalus	2	HELLS CL E G H	3070	4861	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		6
HP:0002921	HP:0001334	Communicating hydrocephalus	2	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation			16
HP:0002921	HP:0001334	Communicating hydrocephalus	2	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional		16
HP:0002921	HP:0002922	Increased CSF protein concentration	2	HLA-DQB1 CL E G H	3119	4944	OMIM:123400	Creutzfeldt-Jakob disease	HP:0040283 - Occasional
HP:0002921	HP:0002922	Increased CSF protein concentration	2	HLA-DRB1 CL E G H	3123	4948	ORPHA:797	Sarcoidosis	HP:0040283 - Occasional		2
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type			19
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII			39
HP:0002921	HP:0006882	Severe hydrocephalus	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1			31
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome			28
HP:0002921	HP:0009709	Increased CSF interferon alpha	2	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		28
HP:0002921	HP:0010953	Noncommunicating hydrocephalus	2	IFNG CL E G H	3458	5438	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		23
HP:0002921	HP:0034200	Abnormal CSF homovanillic acid concentration	2	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			1
HP:0002921	HP:0040207	Abnormal CSF biopterin concentration	2	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002921	HP:0010953	Noncommunicating hydrocephalus	2	KDM4B CL E G H	23030	29136	OMIM:619320	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 65; MRD65
HP:0002921	HP:0002922	Increased CSF protein concentration	2	LIG3 CL E G H	3980	6600	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		1
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy			21
HP:0002921	HP:0002922	Increased CSF protein concentration	2	LMNB1 CL E G H	4001	6637	ORPHA:99027	Adult-onset autosomal dominant leukodystrophy	HP:0040284 - Very rare		44
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type			191
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type			191
HP:0002921	HP:0009709	Increased CSF interferon alpha	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0002921	HP:0001334	Communicating hydrocephalus	2	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040284 - Very rare		136
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51			4
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome			950
HP:0002921	HP:0002922	Increased CSF protein concentration	2	MICU1 CL E G H	10367	1530	OMIM:615673	Myopathy with extrapyramidal signs			14
HP:0002921	HP:0001334	Communicating hydrocephalus	2	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.		29
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE			56
HP:0002921	HP:0002922	Increased CSF protein concentration	2	MPZ CL E G H	4359	7225	ORPHA:101082	Charcot-Marie-Tooth disease type 1B	HP:0040282 - Frequent		134
HP:0002921	HP:0002922	Increased CSF protein concentration	2	MPZ CL E G H	4359	7225	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		134
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32			1
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15			29
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy			29
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24			34
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1			9
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS
HP:0002921	HP:0002922	Increased CSF protein concentration	2	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS
HP:0002921	HP:0002922	Increased CSF protein concentration	2	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS
HP:0002921	HP:0002922	Increased CSF protein concentration	2	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS
HP:0002921	HP:0002922	Increased CSF protein concentration	2	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency			7
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy			91
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency			32
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy			7
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy			3
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy			19
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy			4
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency			1
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency			40
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency			26
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy			26
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency			31
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency			50
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency			34
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy			34
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy			39
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency			3
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency			9
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency			16
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency			81
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy			81
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency			65
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy			65
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency			22
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy			22
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency			27
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002921	HP:0002922	Increased CSF protein concentration	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency			21
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency			38
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy			38
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency			42
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy			42
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency			74
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy			74
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency			27
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy			27
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002921	HP:0025457	Decreased CSF protein concentration	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0002921	HP:0040207	Abnormal CSF biopterin concentration	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002921	HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0002921	HP:0500238	Abnormal CSF albumin concentration	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002921	HP:0034200	Abnormal CSF homovanillic acid concentration	2	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome			32
HP:0002921	HP:0500238	Abnormal CSF albumin concentration	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002921	HP:0025455	Decreased CSF 5-hydroxyindolacetic acid concentration	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002921	HP:0030978	Decreased CSF/serum albumin ratio	2	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002921	HP:0002922	Increased CSF protein concentration	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0002921	HP:0002922	Increased CSF protein concentration	2	NOTCH2NLC CL E G H	100996717	53924	OMIM:619473	OCULOPHARYNGODISTAL MYOPATHY 3; OPDM3
HP:0002921	HP:0034200	Abnormal CSF homovanillic acid concentration	2	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0002921	HP:0034200	Abnormal CSF homovanillic acid concentration	2	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia			27
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency			89
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0002921	HP:0002922	Increased CSF protein concentration	2	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.		23
HP:0002921	HP:0001334	Communicating hydrocephalus	2	P4HB CL E G H	5034	8548	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent		2
HP:0002921	HP:0001334	Communicating hydrocephalus	2	P4HB CL E G H	5034	8548	OMIM:112240	Cole-Carpenter syndrome 1	.		2
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy			88
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency			88
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy			6
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PEX7 CL E G H	5191	8860	OMIM:266500	Refsum disease	.		72
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PHYH CL E G H	5264	8940	OMIM:266500	Refsum disease	.		45
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PMP22 CL E G H	5376	9118	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		79
HP:0002921	HP:0034200	Abnormal CSF homovanillic acid concentration	2	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures			92
HP:0002921	HP:0034200	Abnormal CSF homovanillic acid concentration	2	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency			92
HP:0002921	HP:0040203	Abnormal CSF neopterin concentration	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13			60
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0002921	HP:0002922	Increased CSF protein concentration	2	POLG CL E G H	5428	9179	OMIM:203700	Mitochondrial DNA depletion syndrome 4A (Alpers type)	.		464
HP:0002921	HP:0002922	Increased CSF protein concentration	2	POLG CL E G H	5428	9179	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		464
HP:0002921	HP:0002922	Increased CSF protein concentration	2	POLG CL E G H	5428	9179	OMIM:258450	Progressive external ophthalmoplegia with mitochondrial DNA deletions,autosomal recessive	.		464
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PRF1 CL E G H	5551	9360	OMIM:603553	Hemophagocytic lymphohistiocytosis, familial, 2			58
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PRNP CL E G H	5621	9449	OMIM:123400	Creutzfeldt-Jakob disease	HP:0040283 - Occasional		69
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PRNP CL E G H	5621	9449	ORPHA:282166	Inherited Creutzfeldt-Jakob disease	HP:0040283 - Occasional		69
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PRRT2 CL E G H	112476	30500	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		94
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PRX CL E G H	57716	13797	OMIM:145900	Hypertrophic neuropathy of dejerine-sottas	.		170
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PSAP CL E G H	5660	9498	ORPHA:206436	Infantile Krabbe disease	HP:0040281 - Very frequent		81
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY			81
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PSAP CL E G H	5660	9498	ORPHA:309271	Metachromatic leukodystrophy, adult form	HP:0040282 - Frequent		81
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PSAP CL E G H	5660	9498	ORPHA:309263	Metachromatic leukodystrophy, juvenile form	HP:0040282 - Frequent		81
HP:0002921	HP:0002922	Increased CSF protein concentration	2	PSAP CL E G H	5660	9498	ORPHA:309256	Metachromatic leukodystrophy, late infantile form	HP:0040282 - Frequent		81
HP:0002921	HP:0500183	Abnormal CSF carboxylic acid concentration	2	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0002921	HP:0001334	Communicating hydrocephalus	2	PTEN CL E G H	5728	9588	ORPHA:2969	Proteus-like syndrome	HP:0040282 - Frequent		948
HP:0002921	HP:0002922	Increased CSF protein concentration	2	RANBP2 CL E G H	5903	9848	OMIM:608033	Encephalopathy, acute, infection-induced, susceptibility to, 3	.		57
HP:0002921	HP:0002922	Increased CSF protein concentration	2	RANBP2 CL E G H	5903	9848	ORPHA:88619	Familial acute necrotizing encephalopathy	HP:0040281 - Very frequent		57
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6			93
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11			26
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome			33
HP:0002921	HP:0009709	Increased CSF interferon alpha	2	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		33
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.		33
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome			34
HP:0002921	HP:0009709	Increased CSF interferon alpha	2	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		34
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2			34
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome			60
HP:0002921	HP:0009709	Increased CSF interferon alpha	2	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		60
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3	.		60
HP:0002921	HP:0009709	Increased CSF interferon alpha	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome
HP:0002921	HP:0410073	Increased level of ribose in CSF	2	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0002921	HP:0410075	Increased level of xylitol in CSF	2	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0002921	HP:0410071	Increased level of ribitol in CSF	2	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0002921	HP:0410056	Decreased CSF erythritol concentration	2	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0002921	HP:0410058	Increased level of D-threitol in CSF	2	RPIA CL E G H	22934	10297	OMIM:608611	Ribose 5-phosphate isomerase deficiency			18
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0002921	HP:0002922	Increased CSF protein concentration	2	RRM2B CL E G H	50484	17296	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		125
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome			55
HP:0002921	HP:0009709	Increased CSF interferon alpha	2	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		55
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	SAMHD1 CL E G H	25939	15925	OMIM:612952	Aicardi-Goutieres syndrome 5	HP:0040283 - Occasional		55
HP:0002921	HP:0002922	Increased CSF protein concentration	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	SCN1A CL E G H	6323	10585	ORPHA:569	Familial or sporadic hemiplegic migraine	HP:0040282 - Frequent		1053
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1			40
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy			304
HP:0002921	HP:0001334	Communicating hydrocephalus	2	SEC24D CL E G H	9871	10706	ORPHA:2050	Cole-Carpenter syndrome	HP:0040282 - Frequent		5
HP:0002921	HP:0001334	Communicating hydrocephalus	2	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040282 - Frequent		150
HP:0002921	HP:0500238	Abnormal CSF albumin concentration	2	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0002921	HP:0002922	Increased CSF protein concentration	2	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.		163
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate			2
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy			110
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)			36
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0002921	HP:0031884	Abnormal CSF glucose concentration	2	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome			255
HP:0002921	HP:0031884	Abnormal CSF glucose concentration	2	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1			255
HP:0002921	HP:0031884	Abnormal CSF glucose concentration	2	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0002921	HP:0001334	Communicating hydrocephalus	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040283 - Occasional		255
HP:0002921	HP:0031884	Abnormal CSF glucose concentration	2	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin			255
HP:0002921	HP:0031884	Abnormal CSF glucose concentration	2	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects			255
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG			11
HP:0002921	HP:0034200	Abnormal CSF homovanillic acid concentration	2	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1			13
HP:0002921	HP:0012446	Decreased CSF 5-methyltetrahydrofolate concentration	2	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002921	HP:0040203	Abnormal CSF neopterin concentration	2	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44			9
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria			60
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0002921	HP:0002922	Increased CSF protein concentration	2	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.		80
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy			73
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency			73
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy			23
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		20
HP:0002921	HP:0031884	Abnormal CSF glucose concentration	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis			20
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent		20
HP:0002921	HP:0034200	Abnormal CSF homovanillic acid concentration	2	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			80
HP:0002921	HP:0034200	Abnormal CSF homovanillic acid concentration	2	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive			80
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		6
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent		6
HP:0002921	HP:0031884	Abnormal CSF glucose concentration	2	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis			6
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency			1
HP:0002921	HP:0031884	Abnormal CSF glucose concentration	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis			3
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		3
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent		3
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency			4
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		2
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent		2
HP:0002921	HP:0031884	Abnormal CSF glucose concentration	2	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis			2
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome			2
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome			56
HP:0002921	HP:0009709	Increased CSF interferon alpha	2	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		56
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002921	HP:0009709	Increased CSF interferon alpha	2	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002921	HP:0001334	Communicating hydrocephalus	2	TRIM71 CL E G H	131405	32669	OMIM:618667	HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30			3
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNF CL E G H	4558	7481	ORPHA:550	MELAS
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNH CL E G H	4564	7487	ORPHA:550	MELAS
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS
HP:0002921	HP:0001334	Communicating hydrocephalus	2	TRNT1 CL E G H	51095	17341	OMIM:616084	SIDEROBLASTIC ANEMIA WITH B-CELL IMMUNODEFICIENCY, PERIODIC FEVERS, AND DEVELOPMENTAL DELAY; SIFD			28
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNW CL E G H	4578	7501	ORPHA:550	MELAS
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome
HP:0002921	HP:0010953	Noncommunicating hydrocephalus	2	TSC1 CL E G H	7248	12362	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		1090
HP:0002921	HP:0010953	Noncommunicating hydrocephalus	2	TSC2 CL E G H	7249	12363	ORPHA:805	Tuberous sclerosis complex	HP:0040283 - Occasional		2738
HP:0002921	HP:0034200	Abnormal CSF homovanillic acid concentration	2	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia			2
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TTR CL E G H	7276	12405	OMIM:105210	Amyloidosis, hereditary, transthyretin-related	.		107
HP:0002921	HP:0002343	Normal pressure hydrocephalus	2	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional		64
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29			1
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent		1
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0002921	HP:0002922	Increased CSF protein concentration	2	TYMP CL E G H	1890	3148	ORPHA:298	Mitochondrial neurogastrointestinal encephalomyopathy	HP:0040282 - Frequent		138
HP:0002921	HP:0002922	Increased CSF protein concentration	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040282 - Frequent		5
HP:0002921	HP:0200149	CSF lymphocytic pleiocytosis	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040281 - Very frequent		5
HP:0002921	HP:0031884	Abnormal CSF glucose concentration	2	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis			5
HP:0002921	HP:0030085	Abnormal CSF lactate concentration	2	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0002921	HP:0001334	Communicating hydrocephalus	2	ZBTB24 CL E G H	9841	21143	ORPHA:2268	ICF syndrome	HP:0040282 - Frequent		9
HP:0002921	HP:0025686	Abnormal amyloid beta 40 peptide CSF concentration	3	CL E G H
HP:0002921	HP:0410199	Increased CSF urate concentration	3	CL E G H
HP:0002921	HP:0030862	Elevated CSF amyloid concentration	3	CL E G H
HP:0002921	HP:0012655	Elevated CSF dopamine concentration	3	CL E G H
HP:0002921	HP:0040208	Elevated CSF biopterin level	3	CL E G H
HP:0002921	HP:0030861	Decreased CSF amyloid concentration	3	CL E G H
HP:0002921	HP:0040205	Decreased CSF neopterin level	3	CL E G H
HP:0002921	HP:0025683	Abnormal amyloid beta 42 peptide CSF concentration	3	CL E G H
HP:0002921	HP:0030086	Reduced CSF lactate	3	CL E G H
HP:0002921	HP:0031885	Hyperglycorrhachia	3	CL E G H
HP:0002921	HP:0012656	Reduced CSF dopamine concentration	3	CL E G H
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0002921	HP:0009704	Chronic CSF lymphocytosis	3	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		116
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002921	HP:0002490	Increased CSF lactate	3	AIFM1 CL E G H	9131	8768	OMIM:300816	Combined oxidative phosphorylation deficiency 6	.		60
HP:0002921	HP:0002490	Increased CSF lactate	3	AIFM1 CL E G H	9131	8768	ORPHA:238329	Severe X-linked mitochondrial encephalomyopathy	HP:0040282 - Frequent		60
HP:0002921	HP:0002490	Increased CSF lactate	3	ALDH4A1 CL E G H	8659	406	ORPHA:79101	Hyperprolinemia type 2	HP:0040283 - Occasional		74
HP:0002921	HP:0032532	Elevated CSF 4-hydroxybutyric acid concentration	3	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.		108
HP:0002921	HP:0032531	Elevated CSF gamma-aminobutyric acid concentration	3	ALDH5A1 CL E G H	7915	408	OMIM:271980	Succinic semialdehyde dehydrogenase deficiency	.		108
HP:0002921	HP:0002490	Increased CSF lactate	3	ATP6 CL E G H	4508	7414	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ATPAF2 CL E G H	91647	18802	OMIM:604273	Mitochondrial complex V (atp synthase) deficiency, nuclear type 1			32
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002921	HP:0002490	Increased CSF lactate	3	CLPB CL E G H	81570	30664	OMIM:616271	3-Methylglutaconic aciduria with cataracts, neurologic involvement, and neutropenia			38
HP:0002921	HP:0002490	Increased CSF lactate	3	COA8 CL E G H	84334	20492	ORPHA:436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	COQ8A CL E G H	56997	16812	ORPHA:139485	Autosomal recessive ataxia due to ubiquinone deficiency	HP:0040283 - Occasional		136
HP:0002921	HP:0002490	Increased CSF lactate	3	COX1 CL E G H	4512	7419	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	COX10 CL E G H	1352	2260	OMIM:619046	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 3; MC4DN3			82
HP:0002921	HP:0002490	Increased CSF lactate	3	COX14 CL E G H	84987	28216	OMIM:619053	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 10; MC4DN10			4
HP:0002921	HP:0002490	Increased CSF lactate	3	COX15 CL E G H	1355	2263	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		104
HP:0002921	HP:0002490	Increased CSF lactate	3	COX2 CL E G H	4513	7421	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11			25
HP:0002921	HP:0002490	Increased CSF lactate	3	COX3 CL E G H	4514	7422	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	COX4I1 CL E G H	1327	2265	OMIM:619060	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 16; MC4DN16
HP:0002921	HP:0002490	Increased CSF lactate	3	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7			10
HP:0002921	HP:0002490	Increased CSF lactate	3	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15			1
HP:0002921	HP:0002490	Increased CSF lactate	3	DARS2 CL E G H	55157	25538	ORPHA:137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	HP:0040283 - Occasional		60
HP:0002921	HP:0003785	Decreased CSF homovanillic acid concentration	3	DDC CL E G H	1644	2719	OMIM:608643	Aromatic L-amino acid decarboxylase deficiency			43
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency			82
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002921	HP:0002490	Increased CSF lactate	3	DNM1L CL E G H	10059	2973	OMIM:614388	Encephalopathy due to defective mitochondrial and peroxisomal fission 1			94
HP:0002921	HP:0002490	Increased CSF lactate	3	ECHS1 CL E G H	1892	3151	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		33
HP:0002921	HP:0002490	Increased CSF lactate	3	ECHS1 CL E G H	1892	3151	OMIM:616277	Mitochondrial short-chain enoyl-coa hydratase 1 deficiency	.		33
HP:0002921	HP:0002490	Increased CSF lactate	3	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14			36
HP:0002921	HP:0002490	Increased CSF lactate	3	FOXRED1 CL E G H	55572	26927	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		61
HP:0002921	HP:0002490	Increased CSF lactate	3	FOXRED1 CL E G H	55572	26927	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		61
HP:0002921	HP:0003785	Decreased CSF homovanillic acid concentration	3	GCH1 CL E G H	2643	4193	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		86
HP:0002921	HP:0002490	Increased CSF lactate	3	GFM1 CL E G H	85476	13780	OMIM:609060	Combined oxidative phosphorylation deficiency 1	.		85
HP:0002921	HP:0002490	Increased CSF lactate	3	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040282 - Frequent		43
HP:0002921	HP:0002490	Increased CSF lactate	3	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.		43
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0002921	HP:0002490	Increased CSF lactate	3	HPDL CL E G H	84842	28242	OMIM:619026	NEURODEVELOPMENTAL DISORDER WITH PROGRESSIVE SPASTICITY AND BRAIN WHITE MATTER ABNORMALITIES; NEDSWMA
HP:0002921	HP:0002490	Increased CSF lactate	3	HSD17B10 CL E G H	3028	4800	ORPHA:391428	HSD10 disease, infantile type	HP:0040281 - Very frequent		19
HP:0002921	HP:0002490	Increased CSF lactate	3	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.		39
HP:0002921	HP:0009704	Chronic CSF lymphocytosis	3	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		28
HP:0002921	HP:0003785	Decreased CSF homovanillic acid concentration	3	IMPDH2 CL E G H	3615	6053	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		1
HP:0002921	HP:0040209	Decreased CSF biopterin level	3	KARS1 CL E G H	3735	6215	OMIM:619147	LEUKOENCEPHALOPATHY, PROGRESSIVE, INFANTILE-ONSET, WITH OR WITHOUT DEAFNESS; LEPID
HP:0002921	HP:0002490	Increased CSF lactate	3	LIPT1 CL E G H	51601	29569	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		21
HP:0002921	HP:0002490	Increased CSF lactate	3	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040281 - Very frequent		8
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			8
HP:0002921	HP:0002490	Increased CSF lactate	3	LRPPRC CL E G H	10128	15714	ORPHA:70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	HP:0040281 - Very frequent		191
HP:0002921	HP:0002490	Increased CSF lactate	3	LRPPRC CL E G H	10128	15714	OMIM:220111	Leigh syndrome, french Canadian type	.		191
HP:0002921	HP:0009704	Chronic CSF lymphocytosis	3	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	LYRM4 CL E G H	57128	21365	OMIM:615595	Combined oxidative phosphorylation deficiency 19			4
HP:0002921	HP:0002490	Increased CSF lactate	3	LYRM7 CL E G H	90624	28072	OMIM:615838	Mitochondrial complex III deficiency, nuclear type 8			10
HP:0002921	HP:0002490	Increased CSF lactate	3	MDH2 CL E G H	4191	6971	OMIM:617339	Epileptic encephalopathy, early infantile, 51	.		4
HP:0002921	HP:0002490	Increased CSF lactate	3	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040283 - Occasional		950
HP:0002921	HP:0002490	Increased CSF lactate	3	MPV17 CL E G H	4358	7224	OMIM:618400	Charcot-Marie-Tooth disease, axonal, type 2EE	HP:0040284 - Very rare		56
HP:0002921	HP:0002490	Increased CSF lactate	3	MRPS34 CL E G H	65993	16618	OMIM:617664	Combined oxidative phosphorylation deficiency 32	.		1
HP:0002921	HP:0002490	Increased CSF lactate	3	MTFMT CL E G H	123263	29666	OMIM:614947	Combined oxidative phosphorylation deficiency 15	.		29
HP:0002921	HP:0002490	Increased CSF lactate	3	MTFMT CL E G H	123263	29666	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		29
HP:0002921	HP:0002490	Increased CSF lactate	3	NARS2 CL E G H	79731	26274	OMIM:616239	Combined oxidative phosphorylation deficiency 24	.		34
HP:0002921	HP:0002490	Increased CSF lactate	3	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1	.		9
HP:0002921	HP:0002490	Increased CSF lactate	3	ND1 CL E G H	4535	7455	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ND1 CL E G H	4535	7455	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ND1 CL E G H	4535	7455	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ND2 CL E G H	4536	7456	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ND2 CL E G H	4536	7456	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ND3 CL E G H	4537	7458	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ND3 CL E G H	4537	7458	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ND4 CL E G H	4538	7459	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ND4 CL E G H	4538	7459	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ND5 CL E G H	4540	7461	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ND5 CL E G H	4540	7461	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ND6 CL E G H	4541	7462	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	ND6 CL E G H	4541	7462	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA1 CL E G H	4694	7683	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		7
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA10 CL E G H	4705	7684	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		91
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA11 CL E G H	126328	20371	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		32
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA12 CL E G H	55967	23987	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		7
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA12 CL E G H	55967	23987	OMIM:618244	Mitochondrial complex I deficiency, nuclear type 23			7
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA13 CL E G H	51079	17194	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		3
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA2 CL E G H	4695	7685	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		19
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA4 CL E G H	4697	7687	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		4
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA6 CL E G H	4700	7690	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33			1
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFA9 CL E G H	4704	7693	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFAF1 CL E G H	51103	18828	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		40
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFAF2 CL E G H	91942	28086	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		26
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFAF2 CL E G H	91942	28086	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		26
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFAF3 CL E G H	25915	29918	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		31
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		31
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFAF3 CL E G H	25915	29918	OMIM:618240	Mitochondrial complex I deficiency, nuclear type 18			31
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFAF4 CL E G H	29078	21034	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		50
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFAF5 CL E G H	79133	15899	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		34
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFAF5 CL E G H	79133	15899	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		34
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFAF5 CL E G H	79133	15899	OMIM:618238	Mitochondrial complex I deficiency, nuclear type 16			34
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFAF6 CL E G H	137682	28625	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		39
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFAF8 CL E G H	284184	33551	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFB10 CL E G H	4716	7696	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFB11 CL E G H	54539	20372	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		3
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFB3 CL E G H	4709	7698	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		9
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFB8 CL E G H	4714	7703	OMIM:618252	Mitochondrial complex I deficiency, nuclear type 32	.
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFB9 CL E G H	4715	7704	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		16
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS1 CL E G H	4719	7707	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		81
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS1 CL E G H	4719	7707	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		81
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS2 CL E G H	4720	7708	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		65
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		65
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS2 CL E G H	4720	7708	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		65
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS3 CL E G H	4722	7710	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		22
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS3 CL E G H	4722	7710	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		22
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS3 CL E G H	4722	7710	OMIM:618230	Mitochondrial complex I deficiency, nuclear type 8			22
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS4 CL E G H	4724	7711	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS4 CL E G H	4724	7711	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS4 CL E G H	4724	7711	OMIM:252010	Mitochondrial complex I deficiency, nuclear type 1			27
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS6 CL E G H	4726	7713	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		21
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS7 CL E G H	374291	7714	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		38
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS7 CL E G H	374291	7714	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		38
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS8 CL E G H	4728	7715	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		42
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFS8 CL E G H	4728	7715	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		42
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFV1 CL E G H	4723	7716	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		74
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFV1 CL E G H	4723	7716	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		74
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFV1 CL E G H	4723	7716	OMIM:618225	Mitochondrial complex I deficiency, nuclear type 4			74
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFV2 CL E G H	4729	7717	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		27
HP:0002921	HP:0002490	Increased CSF lactate	3	NDUFV2 CL E G H	4729	7717	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		27
HP:0002921	HP:0002490	Increased CSF lactate	3	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002921	HP:0025458	Decreased CSF albumin concentration	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0002921	HP:0040209	Decreased CSF biopterin level	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0002921	HP:0003785	Decreased CSF homovanillic acid concentration	3	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040282 - Frequent		32
HP:0002921	HP:0025458	Decreased CSF albumin concentration	3	NGLY1 CL E G H	55768	17646	OMIM:615273	Congenital disorder of deglycosylation			32
HP:0002921	HP:0003785	Decreased CSF homovanillic acid concentration	3	NR4A2 CL E G H	4929	7981	OMIM:619911				27
HP:0002921	HP:0003785	Decreased CSF homovanillic acid concentration	3	NR4A2 CL E G H	4929	7981	ORPHA:98808	Autosomal dominant dopa-responsive dystonia	HP:0040282 - Frequent		27
HP:0002921	HP:0002490	Increased CSF lactate	3	NUBPL CL E G H	80224	20278	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		89
HP:0002921	HP:0002490	Increased CSF lactate	3	NUBPL CL E G H	80224	20278	OMIM:618242	Mitochondrial complex I deficiency, nuclear type 21			89
HP:0002921	HP:0002490	Increased CSF lactate	3	PDHA1 CL E G H	5160	8806	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		88
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency			88
HP:0002921	HP:0002490	Increased CSF lactate	3	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.		88
HP:0002921	HP:0002490	Increased CSF lactate	3	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040281 - Very frequent		88
HP:0002921	HP:0002490	Increased CSF lactate	3	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040281 - Very frequent		98
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency			98
HP:0002921	HP:0002490	Increased CSF lactate	3	PET100 CL E G H	100131801	40038	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		6
HP:0002921	HP:0002490	Increased CSF lactate	3	PET100 CL E G H	100131801	40038	OMIM:619055	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 12; MC4DN12			6
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002921	HP:0002490	Increased CSF lactate	3	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002921	HP:0003785	Decreased CSF homovanillic acid concentration	3	PNPO CL E G H	55163	30260	ORPHA:79096	Pyridoxal phosphate-responsive seizures	HP:0040282 - Frequent		92
HP:0002921	HP:0003785	Decreased CSF homovanillic acid concentration	3	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.		92
HP:0002921	HP:0002490	Increased CSF lactate	3	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040282 - Frequent		60
HP:0002921	HP:0040204	Elevated CSF neopterin level	3	PNPT1 CL E G H	87178	23166	ORPHA:319514	Combined oxidative phosphorylation defect type 13	HP:0040283 - Occasional		60
HP:0002921	HP:0002490	Increased CSF lactate	3	PNPT1 CL E G H	87178	23166	OMIM:614932	Combined oxidative phosphorylation deficiency 13			60
HP:0002921	HP:0500184	Abnormal CSF amino acid concentration	3	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0002921	HP:0002490	Increased CSF lactate	3	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.		93
HP:0002921	HP:0002490	Increased CSF lactate	3	RMND1 CL E G H	55005	21176	OMIM:614922	Combined oxidative phosphorylation deficiency 11	.		26
HP:0002921	HP:0009704	Chronic CSF lymphocytosis	3	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		33
HP:0002921	HP:0009704	Chronic CSF lymphocytosis	3	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		34
HP:0002921	HP:0009704	Chronic CSF lymphocytosis	3	RNASEH2B CL E G H	79621	25671	OMIM:610181	Aicardi-Goutieres syndrome 2			34
HP:0002921	HP:0009704	Chronic CSF lymphocytosis	3	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		60
HP:0002921	HP:0009704	Chronic CSF lymphocytosis	3	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	RRM2B CL E G H	50484	17296	OMIM:612075	Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)			125
HP:0002921	HP:0009704	Chronic CSF lymphocytosis	3	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		55
HP:0002921	HP:0002490	Increased CSF lactate	3	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1	.		40
HP:0002921	HP:0002490	Increased CSF lactate	3	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		40
HP:0002921	HP:0002490	Increased CSF lactate	3	SDHA CL E G H	6389	10680	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		304
HP:0002921	HP:0500239	Increased CSF albumin concentration	3	SLC12A2 CL E G H	6558	10911	OMIM:619080	KILQUIST SYNDROME; KILQS			2
HP:0002921	HP:0002490	Increased CSF lactate	3	SLC13A3 CL E G H	64849	14430	OMIM:618384	Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate	.		2
HP:0002921	HP:0002490	Increased CSF lactate	3	SLC19A3 CL E G H	80704	16266	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		110
HP:0002921	HP:0002490	Increased CSF lactate	3	SLC25A19 CL E G H	60386	14409	OMIM:613710	Thiamine metabolism dysfunction syndrome 4 (bilateral striatal degenerationand progressive polyneuropathy type)	.		36
HP:0002921	HP:0002490	Increased CSF lactate	3	SLC25A4 CL E G H	291	10990	OMIM:615418	Mitochondrial DNA depletion syndrome 12 (cardiomyopathic type)			68
HP:0002921	HP:0002490	Increased CSF lactate	3	SLC25A4 CL E G H	291	10990	OMIM:617184	Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant			68
HP:0002921	HP:0011972	Hypoglycorrhachia	3	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040281 - Very frequent		255
HP:0002921	HP:0011972	Hypoglycorrhachia	3	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.		255
HP:0002921	HP:0011972	Hypoglycorrhachia	3	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2	.		255
HP:0002921	HP:0002490	Increased CSF lactate	3	SLC2A1 CL E G H	6513	11005	OMIM:612126	Glut1 deficiency syndrome 2			255
HP:0002921	HP:0011972	Hypoglycorrhachia	3	SLC2A1 CL E G H	6513	11005	ORPHA:168577	Hereditary cryohydrocytosis with reduced stomatin	HP:0040282 - Frequent		255
HP:0002921	HP:0011972	Hypoglycorrhachia	3	SLC2A1 CL E G H	6513	11005	OMIM:608885	Stomatin-Deficient cryohydrocytosis with neurologic defects	.		255
HP:0002921	HP:0002490	Increased CSF lactate	3	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional		11
HP:0002921	HP:0034201	Increased CSF homovanillic acid concentration	3	SLC6A3 CL E G H	6531	11049	OMIM:613135	Parkinsonism-Dystonia, infantile, 1			13
HP:0002921	HP:0040204	Elevated CSF neopterin level	3	STAT2 CL E G H	6773	11363	OMIM:616636	Immunodeficiency 44			9
HP:0002921	HP:0002490	Increased CSF lactate	3	SUCLG1 CL E G H	8802	11449	ORPHA:17	Fatal infantile lactic acidosis with methylmalonic aciduria	HP:0040282 - Frequent		60
HP:0002921	HP:0002490	Increased CSF lactate	3	SUCLG1 CL E G H	8802	11449	OMIM:245400	Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)			60
HP:0002921	HP:0002490	Increased CSF lactate	3	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent		73
HP:0002921	HP:0002490	Increased CSF lactate	3	SURF1 CL E G H	6834	11474	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		73
HP:0002921	HP:0002490	Increased CSF lactate	3	SURF1 CL E G H	6834	11474	OMIM:220110	Mitochondrial complex IV deficiency	.		73
HP:0002921	HP:0002490	Increased CSF lactate	3	TACO1 CL E G H	51204	24316	ORPHA:255241	Leigh syndrome with leukodystrophy	HP:0040282 - Frequent		23
HP:0002921	HP:0011972	Hypoglycorrhachia	3	TBK1 CL E G H	29110	11584	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		20
HP:0002921	HP:0003785	Decreased CSF homovanillic acid concentration	3	TH CL E G H	7054	11782	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		80
HP:0002921	HP:0003785	Decreased CSF homovanillic acid concentration	3	TH CL E G H	7054	11782	OMIM:605407	Segawa syndrome, autosomal recessive	.		80
HP:0002921	HP:0011972	Hypoglycorrhachia	3	TICAM1 CL E G H	148022	18348	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		6
HP:0002921	HP:0002490	Increased CSF lactate	3	TIMM50 CL E G H	92609	23656	OMIM:617698	3-methylglutaconic aciduria, type IX			1
HP:0002921	HP:0002490	Increased CSF lactate	3	TIMMDC1 CL E G H	51300	1321	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		1
HP:0002921	HP:0011972	Hypoglycorrhachia	3	TLR3 CL E G H	7098	11849	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		3
HP:0002921	HP:0002490	Increased CSF lactate	3	TMEM126B CL E G H	55863	30883	ORPHA:2609	Isolated complex I deficiency	HP:0040281 - Very frequent		4
HP:0002921	HP:0002490	Increased CSF lactate	3	TPK1 CL E G H	27010	17358	OMIM:614458	Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type)			21
HP:0002921	HP:0011972	Hypoglycorrhachia	3	TRAF3 CL E G H	7187	12033	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		2
HP:0002921	HP:0002490	Increased CSF lactate	3	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040283 - Occasional		2
HP:0002921	HP:0009704	Chronic CSF lymphocytosis	3	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent		56
HP:0002921	HP:0009704	Chronic CSF lymphocytosis	3	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1			56
HP:0002921	HP:0002490	Increased CSF lactate	3	TRMT10C CL E G H	54931	26022	OMIM:616974	Combined oxidative phosphorylation deficiency 30	.		3
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNF CL E G H	4558	7481	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNH CL E G H	4564	7487	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNK CL E G H	4566	7489	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNL1 CL E G H	4567	7490	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNL1 CL E G H	4567	7490	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNN CL E G H	4570	7493	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNQ CL E G H	4572	7495	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNS1 CL E G H	4574	7497	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNS1 CL E G H	4574	7497	OMIM:220110	Mitochondrial complex IV deficiency	.
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNS2 CL E G H	4575	7498	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNV CL E G H	4577	7500	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNW CL E G H	4578	7501	ORPHA:550	MELAS	HP:0040282 - Frequent
HP:0002921	HP:0002490	Increased CSF lactate	3	TRNW CL E G H	4578	7501	ORPHA:255210	Mitochondrial DNA-associated Leigh syndrome	HP:0040281 - Very frequent
HP:0002921	HP:0003785	Decreased CSF homovanillic acid concentration	3	TSPOAP1 CL E G H	9256	16831	ORPHA:101150	Autosomal recessive dopa-responsive dystonia	HP:0040282 - Frequent		2
HP:0002921	HP:0002490	Increased CSF lactate	3	TXN2 CL E G H	25828	17772	ORPHA:478029	Combined oxidative phosphorylation defect type 29	HP:0040281 - Very frequent		1
HP:0002921	HP:0002490	Increased CSF lactate	3	TXN2 CL E G H	25828	17772	OMIM:616811	Combined oxidative phosphorylation deficiency 29			1
HP:0002921	HP:0011972	Hypoglycorrhachia	3	UNC93B1 CL E G H	81622	13481	ORPHA:1930	Herpes simplex virus encephalitis	HP:0040283 - Occasional		5
HP:0002921	HP:0002490	Increased CSF lactate	3	UQCC2 CL E G H	84300	21237	OMIM:615824	Mitochondrial complex III deficiency, nuclear type 7			7
HP:0002921	HP:0500240	Abnormal CSF carnosine concentration	4	CL E G H
HP:0002921	HP:0500247	Abnormal CSF alpha-aminobutyrate concentration	4	CL E G H
HP:0002921	HP:0025685	Increased amyloid beta 42 peptide CSF concentration	4	CL E G H
HP:0002921	HP:0025684	Decreased amyloid beta 42 peptide CSF concentration	4	CL E G H
HP:0002921	HP:0500245	Abnormal CSF citrulline concentration	4	CL E G H
HP:0002921	HP:0500235	Abnormal CSF histidine concentration	4	CL E G H
HP:0002921	HP:0500214	Abnormal CSF aromatic amino acid concentration	4	CL E G H
HP:0002921	HP:0025687	Increased amyloid beta 40 peptide CSF concentration	4	CL E G H
HP:0002921	HP:0500241	Abnormal CSF homocarnosine concentration	4	CL E G H
HP:0002921	HP:0500195	Abnormal CSF glutamine family amino acid concentration	4	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0002921	HP:0500243	Abnormal CSF ornithine concentration	4	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent		15
HP:0002921	HP:0500205	Abnormal CSF aspartate family amino acid concentration	4	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0002921	HP:0500205	Abnormal CSF aspartate family amino acid concentration	4	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002921	HP:0500225	Abnormal CSF serine family amino acid concentration	4	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002921	HP:0500231	Abnormal CSF pyruvate family amino acid concentration	4	DLAT CL E G H	1737	2896	ORPHA:79244	Pyruvate dehydrogenase E2 deficiency	HP:0040281 - Very frequent		82
HP:0002921	HP:0500185	Abnormal CSF branched chain amino acid concentration	4	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002921	HP:0500195	Abnormal CSF glutamine family amino acid concentration	4	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002921	HP:0500225	Abnormal CSF serine family amino acid concentration	4	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0002921	HP:0500231	Abnormal CSF pyruvate family amino acid concentration	4	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040281 - Very frequent		8
HP:0002921	HP:0500231	Abnormal CSF pyruvate family amino acid concentration	4	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0002921	HP:0500225	Abnormal CSF serine family amino acid concentration	4	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002921	HP:0500231	Abnormal CSF pyruvate family amino acid concentration	4	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040281 - Very frequent		88
HP:0002921	HP:0500231	Abnormal CSF pyruvate family amino acid concentration	4	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040281 - Very frequent		98
HP:0002921	HP:0500231	Abnormal CSF pyruvate family amino acid concentration	4	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002921	HP:0500225	Abnormal CSF serine family amino acid concentration	4	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0002921	HP:0500211	Abnormal CSF threonine concentration	5	CL E G H
HP:0002921	HP:0500237	Decreased CSF histidine concentration	5	CL E G H
HP:0002921	HP:0500216	Abnormal CSF aspartate concentration	5	CL E G H
HP:0002921	HP:0500246	Increased CSF citrulline concentration	5	CL E G H
HP:0002921	HP:0500236	Increased CSF histidine concentration	5	CL E G H
HP:0002921	HP:0500215	Abnormal CSF phenylalanine concentration	5	CL E G H
HP:0002921	HP:0500244	Increased CSF ornithine concentration	5	CL E G H
HP:0002921	HP:0500242	Increased CSF homocarnosine concentration	5	CL E G H
HP:0002921	HP:0500219	Abnormal CSF tyrosine concentration	5	CL E G H
HP:0002921	HP:0500199	Abnormal CSF glutamate concentration	5	CL E G H
HP:0002921	HP:0500218	Abnormal CSF tryptophan concentration	5	CL E G H
HP:0002921	HP:0500248	Increased CSF alpha-aminobutyrate concentration	5	CL E G H
HP:0002921	HP:0500206	Abnormal CSF lysine concentration	5	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0002921	HP:0500202	Abnormal CSF arginine concentration	5	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia			15
HP:0002921	HP:0500209	Abnormal CSF methionine concentration	5	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002921	HP:0500229	Abnormal CSF glycine concentration	5	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002921	HP:0500186	Abnormal CSF valine concentration	5	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002921	HP:0500189	Abnormal CSF leucine concentration	5	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002921	HP:0500192	Abnormal CSF isoleucine concentration	5	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002921	HP:0500196	Abnormal CSF glutamine concentration	5	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002921	HP:0500229	Abnormal CSF glycine concentration	5	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria			6
HP:0002921	HP:0500232	Abnormal CSF alanine concentration	5	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0002921	HP:0500229	Abnormal CSF glycine concentration	5	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002921	HP:0500232	Abnormal CSF alanine concentration	5	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002921	HP:0500226	Abnormal CSF serine concentration	5	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0002921	HP:0500229	Abnormal CSF glycine concentration	5	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0002921	HP:0500224	Decreased CSF phenylalanine concentration	6	CL E G H
HP:0002921	HP:0500217	Increased CSF aspartate concentration	6	CL E G H
HP:0002921	HP:0500194	Decreased CSF isoleucine concentration	6	CL E G H
HP:0002921	HP:0500223	Increased CSF phenylalanine concentration	6	CL E G H
HP:0002921	HP:0500207	Decreased CSF lysine concentration	6	CL E G H
HP:0002921	HP:0500190	Decreased CSF leucine concentration	6	CL E G H
HP:0002921	HP:0500222	Increased CSF tryptophan concentration	6	CL E G H
HP:0002921	HP:0500203	Increased CSF arginine concentration	6	CL E G H
HP:0002921	HP:0500188	Decreased CSF valine concentration	6	CL E G H
HP:0002921	HP:0500221	Decreased CSF tyrosine concentration	6	CL E G H
HP:0002921	HP:0500201	Decreased CSF glutamate concentration	6	CL E G H
HP:0002921	HP:0500220	Increased CSF tyrosine concentration	6	CL E G H
HP:0002921	HP:0500200	Increased CSF glutamate concentration	6	CL E G H
HP:0002921	HP:0500234	Decreased CSF alanine concentration	6	CL E G H
HP:0002921	HP:0500213	Decreased CSF threonine concentration	6	CL E G H
HP:0002921	HP:0500227	Increased CSF serine concentration	6	CL E G H
HP:0002921	HP:0500212	Increased CSF threonine concentration	6	CL E G H
HP:0002921	HP:0500197	Increased CSF glutamine concentration	6	CL E G H
HP:0002921	HP:0500204	Decreased CSF arginine concentration	6	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent		15
HP:0002921	HP:0500208	Increased CSF lysine concentration	6	AASS CL E G H	10157	17366	ORPHA:2203	Hyperlysinemia	HP:0040282 - Frequent		15
HP:0002921	HP:0500210	Increased CSF methionine concentration	6	ADK CL E G H	132	257	OMIM:614300	Hypermethioninemia due to adenosine kinase deficiency			26
HP:0002921	HP:0500230	Increased CSF glycine concentration	6	BOLA3 CL E G H	388962	24415	OMIM:614299	Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia			14
HP:0002921	HP:0500187	Increased CSF valine concentration	6	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002921	HP:0500191	Increased CSF leucine concentration	6	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002921	HP:0500193	Increased CSF isoleucine concentration	6	DLD CL E G H	1738	2898	OMIM:246900	Dihydrolipoamide dehydrogenase deficiency			89
HP:0002921	HP:0500198	Decreased CSF glutamine concentration	6	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL			98
HP:0002921	HP:0500230	Increased CSF glycine concentration	6	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040282 - Frequent		6
HP:0002921	HP:0500233	Increased CSF alanine concentration	6	NDUFA4 CL E G H	4697	7687	OMIM:619065	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 21; MC4DN21			4
HP:0002921	HP:0500230	Increased CSF glycine concentration	6	NFU1 CL E G H	27247	16287	OMIM:605711	Multiple mitochondrial dysfunctions syndrome 1			34
HP:0002921	HP:0500233	Increased CSF alanine concentration	6	PET117 CL E G H	100303755	40045	OMIM:619063	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 19; MC4DN19
HP:0002921	HP:0500228	Decreased CSF serine concentration	6	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27
HP:0002921	HP:0034390	Decreased CSF glycine concentration	6	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency			27