Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Aplasia/Hypoplasia of the cerebrum (HP:0007364)

Grandparent Node:
Decreased head circumference (HP:0040195)

Parent Node:
Microcephaly (HP:0000252)

..Starting node
..Secondary microcephaly (HP:0005484)

Term ID:

5484

Name:

Secondary microcephaly

Synonym:

Acquired microcephaly; Deceleration of head growth; Development of small head that was not present at birth; Microcephaly, acquired; Microcephaly, postnatal; Postnatal deceleration of head circumference; Postnatal microcephaly

Definition:

Head circumference which falls below 2 standard deviations below the mean for age and gender because of insufficient head growth after birth.

Comments:

Reference:

HP:0005484

Genes and Diseases:

Child Nodes:

........

Cessation of head growth (HP:0004485)

Sister Nodes:

Primary microcephaly (HP:0011451)

Progressive microcephaly (HP:0000253)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005484	HP:0005484	Secondary microcephaly	0	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0005484	HP:0005484	Secondary microcephaly	0	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0005484	HP:0005484	Secondary microcephaly	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2		123
HP:0005484	HP:0005484	Secondary microcephaly	0	ADAM22 CL E G H	53616	201	OMIM:617933	Epileptic encephalopathy, early infantile, 61
HP:0005484	HP:0005484	Secondary microcephaly	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0005484	HP:0005484	Secondary microcephaly	0	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG		58
HP:0005484	HP:0005484	Secondary microcephaly	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG		68
HP:0005484	HP:0005484	Secondary microcephaly	0	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0005484	HP:0005484	Secondary microcephaly	0	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG		93
HP:0005484	HP:0005484	Secondary microcephaly	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9		21
HP:0005484	HP:0005484	Secondary microcephaly	0	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive		179
HP:0005484	HP:0005484	Secondary microcephaly	0	ARNT2 CL E G H	9915	16876	OMIM:615926	Webb-Dattani syndrome	.
HP:0005484	HP:0005484	Secondary microcephaly	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency		17
HP:0005484	HP:0005484	Secondary microcephaly	0	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		4
HP:0005484	HP:0005484	Secondary microcephaly	0	ATP1A2 CL E G H	477	800	OMIM:619605	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 98; DEE98		239
HP:0005484	HP:0005484	Secondary microcephaly	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0005484	HP:0005484	Secondary microcephaly	0	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome		140
HP:0005484	HP:0005484	Secondary microcephaly	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0005484	HP:0005484	Secondary microcephaly	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0005484	HP:0005484	Secondary microcephaly	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0005484	HP:0005484	Secondary microcephaly	0	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal		20
HP:0005484	HP:0005484	Secondary microcephaly	0	C2ORF69 CL E G H	205327	26799	OMIM:619423	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 53; COXPD53
HP:0005484	HP:0005484	Secondary microcephaly	0	CACNA1B CL E G H	774	1389	OMIM:618497	Neurodevelopmental disorder with seizures and nonepileptic hyperkinetic movements	.	5
HP:0005484	HP:0005484	Secondary microcephaly	0	CARS2 CL E G H	79587	25695	OMIM:616672	Combined oxidative phosphorylation deficiency 27	.	35
HP:0005484	HP:0005484	Secondary microcephaly	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0005484	HP:0005484	Secondary microcephaly	0	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3		57
HP:0005484	HP:0005484	Secondary microcephaly	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome		1
HP:0005484	HP:0005484	Secondary microcephaly	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0005484	HP:0005484	Secondary microcephaly	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0005484	HP:0005484	Secondary microcephaly	0	CDKL5 CL E G H	6792	11411	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	405
HP:0005484	HP:0005484	Secondary microcephaly	0	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2		405
HP:0005484	HP:0005484	Secondary microcephaly	0	CERT1 CL E G H	10087	2205	OMIM:616351	Mental retardation, autosomal dominant 34	.
HP:0005484	HP:0005484	Secondary microcephaly	0	CHMP1A CL E G H	5119	8740	OMIM:614961	Pontocerebellar hypoplasia, type 8	.	19
HP:0005484	HP:0005484	Secondary microcephaly	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10		7
HP:0005484	HP:0005484	Secondary microcephaly	0	CLPB CL E G H	81570	30664	OMIM:619835	3-METHYLGLUTACONIC ACIDURIA, TYPE VIIA; MGCA7A		38
HP:0005484	HP:0005484	Secondary microcephaly	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56	.	1
HP:0005484	HP:0005484	Secondary microcephaly	0	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0005484	HP:0005484	Secondary microcephaly	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0005484	HP:0005484	Secondary microcephaly	0	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg		52
HP:0005484	HP:0005484	Secondary microcephaly	0	COG2 CL E G H	22796	6546	ORPHA:435934	COG2-CDG	HP:0040281 - Very frequent	2
HP:0005484	HP:0005484	Secondary microcephaly	0	COG2 CL E G H	22796	6546	OMIM:617395	Congenital disorder of glycosylation, type IIq	.	2
HP:0005484	HP:0005484	Secondary microcephaly	0	COG6 CL E G H	57511	18621	ORPHA:363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	HP:0040283 - Occasional	71
HP:0005484	HP:0005484	Secondary microcephaly	0	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0005484	HP:0005484	Secondary microcephaly	0	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe		64
HP:0005484	HP:0005484	Secondary microcephaly	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG		39
HP:0005484	HP:0005484	Secondary microcephaly	0	COQ9 CL E G H	57017	25302	OMIM:614654	Coenzyme Q10 deficiency, primary, 5	.	44
HP:0005484	HP:0005484	Secondary microcephaly	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040282 - Frequent	291
HP:0005484	HP:0005484	Secondary microcephaly	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040281 - Very frequent	291
HP:0005484	HP:0005484	Secondary microcephaly	0	CTNNA2 CL E G H	1496	2510	OMIM:618174	Cortical dysplasia, complex, with other brain malformations 9	.	2
HP:0005484	HP:0005484	Secondary microcephaly	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional	145
HP:0005484	HP:0005484	Secondary microcephaly	0	DEGS1 CL E G H	8560	13709	OMIM:618404	Leukodystrophy, hypomyelinating, 18
HP:0005484	HP:0005484	Secondary microcephaly	0	DHFR CL E G H	1719	2861	OMIM:613839	Megaloblastic anemia due to dihydrofolate reductase deficiency	.	7
HP:0005484	HP:0005484	Secondary microcephaly	0	DOLK CL E G H	22845	23406	OMIM:610768	Congenital disorder of glycosylation, type Im	.	55
HP:0005484	HP:0005484	Secondary microcephaly	0	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0005484	HP:0005484	Secondary microcephaly	0	DPM1 CL E G H	8813	3005	OMIM:608799	Congenital disorder of glycosylation, type IE	.	27
HP:0005484	HP:0005484	Secondary microcephaly	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040281 - Very frequent	27
HP:0005484	HP:0005484	Secondary microcephaly	0	DPM2 CL E G H	8818	3006	OMIM:615042	Congenital disorder of glycosylation, type Iu	.	26
HP:0005484	HP:0005484	Secondary microcephaly	0	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy		26
HP:0005484	HP:0005484	Secondary microcephaly	0	EEF1A2 CL E G H	1917	3192	OMIM:616409	Epileptic encephalopathy, early infantile, 33	.	60
HP:0005484	HP:0005484	Secondary microcephaly	0	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type		48
HP:0005484	HP:0005484	Secondary microcephaly	0	EFTUD2 CL E G H	9343	30858	ORPHA:79113	Mandibulofacial dysostosis-microcephaly syndrome	HP:0040281 - Very frequent	48
HP:0005484	HP:0005484	Secondary microcephaly	0	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter		42
HP:0005484	HP:0005484	Secondary microcephaly	0	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter		24
HP:0005484	HP:0005484	Secondary microcephaly	0	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter		32
HP:0005484	HP:0005484	Secondary microcephaly	0	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter		38
HP:0005484	HP:0005484	Secondary microcephaly	0	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter		48
HP:0005484	HP:0005484	Secondary microcephaly	0	EMC1 CL E G H	23065	28957	OMIM:616875	Cerebellar atrophy, visual impairment, and psychomotor retardation		5
HP:0005484	HP:0005484	Secondary microcephaly	0	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome		5
HP:0005484	HP:0005484	Secondary microcephaly	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040281 - Very frequent	250
HP:0005484	HP:0005484	Secondary microcephaly	0	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3		199
HP:0005484	HP:0005484	Secondary microcephaly	0	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3		55
HP:0005484	HP:0005484	Secondary microcephaly	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0005484	HP:0005484	Secondary microcephaly	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0005484	HP:0005484	Secondary microcephaly	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B		38
HP:0005484	HP:0005484	Secondary microcephaly	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0005484	HP:0005484	Secondary microcephaly	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0005484	HP:0005484	Secondary microcephaly	0	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities		3
HP:0005484	HP:0005484	Secondary microcephaly	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0005484	HP:0005484	Secondary microcephaly	0	FGF12 CL E G H	2257	3668	OMIM:617166	Epileptic encephalopathy, early infantile, 47	HP:0040283 - Occasional	3
HP:0005484	HP:0005484	Secondary microcephaly	0	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0005484	HP:0005484	Secondary microcephaly	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.	61
HP:0005484	HP:0005484	Secondary microcephaly	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0005484	HP:0005484	Secondary microcephaly	0	GABBR2 CL E G H	9568	4507	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	5
HP:0005484	HP:0005484	Secondary microcephaly	0	GABRA5 CL E G H	2558	4079	OMIM:618559	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 79; DEE79
HP:0005484	HP:0005484	Secondary microcephaly	0	GABRB2 CL E G H	2561	4082	OMIM:617829	Epileptic encephalopathy, infantile or early childhood, 2		44
HP:0005484	HP:0005484	Secondary microcephaly	0	GLS CL E G H	2744	4331	OMIM:618339	Infantile cataract, skin abnormalities, glutamate excess, and impaired intellectual development	.
HP:0005484	HP:0005484	Secondary microcephaly	0	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria		6
HP:0005484	HP:0005484	Secondary microcephaly	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0005484	HP:0005484	Secondary microcephaly	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0005484	HP:0005484	Secondary microcephaly	0	GPT2 CL E G H	84706	18062	OMIM:616281	Mental retardation, autosomal recessive 49	.	4
HP:0005484	HP:0005484	Secondary microcephaly	0	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB		1
HP:0005484	HP:0005484	Secondary microcephaly	0	GRIN2A CL E G H	2903	4585	ORPHA:289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	HP:0040283 - Occasional	434
HP:0005484	HP:0005484	Secondary microcephaly	0	HNRNPH2 CL E G H	3188	5042	OMIM:300986	MENTAL RETARDATION, X-LINKED, SYNDROMIC, BAIN TYPE; MRXSB		3
HP:0005484	HP:0005484	Secondary microcephaly	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0005484	HP:0005484	Secondary microcephaly	0	HSPD1 CL E G H	3329	5261	OMIM:612233	Leukodystrophy, hypomyelinating, 4	.	46
HP:0005484	HP:0005484	Secondary microcephaly	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.	39
HP:0005484	HP:0005484	Secondary microcephaly	0	IQSEC2 CL E G H	23096	29059	OMIM:309530	Mental retardation, X-linked 1	HP:0040283 - Occasional	119
HP:0005484	HP:0005484	Secondary microcephaly	0	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome		119
HP:0005484	HP:0005484	Secondary microcephaly	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	.	4
HP:0005484	HP:0005484	Secondary microcephaly	0	KIF5C CL E G H	3800	6325	OMIM:615282	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 2; CDCBM2		18
HP:0005484	HP:0005484	Secondary microcephaly	0	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0005484	HP:0005484	Secondary microcephaly	0	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0005484	HP:0005484	Secondary microcephaly	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0005484	HP:0005484	Secondary microcephaly	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0005484	HP:0005484	Secondary microcephaly	0	MECP2 CL E G H	4204	6990	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	950
HP:0005484	HP:0005484	Secondary microcephaly	0	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations		950
HP:0005484	HP:0005484	Secondary microcephaly	0	MECP2 CL E G H	4204	6990	OMIM:312750	Rett syndrome	.	950
HP:0005484	HP:0005484	Secondary microcephaly	0	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome		950
HP:0005484	HP:0005484	Secondary microcephaly	0	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.	23
HP:0005484	HP:0005484	Secondary microcephaly	0	MFF CL E G H	56947	24858	OMIM:617086	Encephalopathy due to defective mitochondrial and peroxisomal fission 2		17
HP:0005484	HP:0005484	Secondary microcephaly	0	MFF CL E G H	56947	24858	ORPHA:485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	HP:0040282 - Frequent	17
HP:0005484	HP:0005484	Secondary microcephaly	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive		5
HP:0005484	HP:0005484	Secondary microcephaly	0	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG		39
HP:0005484	HP:0005484	Secondary microcephaly	0	MICOS13 CL E G H	125988	33702	OMIM:618329	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 37; COXPD37
HP:0005484	HP:0005484	Secondary microcephaly	0	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency		6
HP:0005484	HP:0005484	Secondary microcephaly	0	NACC1 CL E G H	112939	20967	OMIM:617393	Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination		1
HP:0005484	HP:0005484	Secondary microcephaly	0	NAPB CL E G H	63908	15751	OMIM:620033			2
HP:0005484	HP:0005484	Secondary microcephaly	0	NDUFA11 CL E G H	126328	20371	OMIM:618236	Mitochondrial complex I deficiency, nuclear type 14	.	32
HP:0005484	HP:0005484	Secondary microcephaly	0	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5		81
HP:0005484	HP:0005484	Secondary microcephaly	0	NEXMIF CL E G H	340533	29433	OMIM:300912	Mental retardation, X-linked 98		52
HP:0005484	HP:0005484	Secondary microcephaly	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0005484	HP:0005484	Secondary microcephaly	0	NTNG1 CL E G H	22854	23319	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	1
HP:0005484	HP:0005484	Secondary microcephaly	0	NTRK2 CL E G H	4915	8032	OMIM:617830	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 58; EIEE58		8
HP:0005484	HP:0005484	Secondary microcephaly	0	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent	121
HP:0005484	HP:0005484	Secondary microcephaly	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0005484	HP:0005484	Secondary microcephaly	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0005484	HP:0005484	Secondary microcephaly	0	PARS2 CL E G H	25973	30563	OMIM:618437	Epileptic encephalopathy, early infantile, 75		14
HP:0005484	HP:0005484	Secondary microcephaly	0	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0005484	HP:0005484	Secondary microcephaly	0	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3		6
HP:0005484	HP:0005484	Secondary microcephaly	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2	.	46
HP:0005484	HP:0005484	Secondary microcephaly	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0005484	HP:0005484	Secondary microcephaly	0	PLEKHG2 CL E G H	64857	29515	OMIM:616763	Leukodystrophy and acquired microcephaly with or without dystonia	.	3
HP:0005484	HP:0005484	Secondary microcephaly	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	.	6
HP:0005484	HP:0005484	Secondary microcephaly	0	PMPCB CL E G H	9512	9119	OMIM:617954	Multiple mitochondrial dysfunctions syndrome 6	HP:0040284 - Very rare
HP:0005484	HP:0005484	Secondary microcephaly	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay		244
HP:0005484	HP:0005484	Secondary microcephaly	0	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency		92
HP:0005484	HP:0005484	Secondary microcephaly	0	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12		18
HP:0005484	HP:0005484	Secondary microcephaly	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0005484	HP:0005484	Secondary microcephaly	0	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.	172
HP:0005484	HP:0005484	Secondary microcephaly	0	PRORP CL E G H	9692	19958	OMIM:619737	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 54; COXPD54
HP:0005484	HP:0005484	Secondary microcephaly	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency	.	27
HP:0005484	HP:0005484	Secondary microcephaly	0	PTRH2 CL E G H	51651	24265	ORPHA:456312	Infantile multisystem neurologic-endocrine-pancreatic disease	HP:0040282 - Frequent	6
HP:0005484	HP:0005484	Secondary microcephaly	0	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset		6
HP:0005484	HP:0005484	Secondary microcephaly	0	PUF60 CL E G H	22827	17042	ORPHA:508488	8q24.3 microdeletion syndrome	HP:0040283 - Occasional	19
HP:0005484	HP:0005484	Secondary microcephaly	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome		1
HP:0005484	HP:0005484	Secondary microcephaly	0	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10		11
HP:0005484	HP:0005484	Secondary microcephaly	0	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy		11
HP:0005484	HP:0005484	Secondary microcephaly	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy
HP:0005484	HP:0005484	Secondary microcephaly	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0005484	HP:0005484	Secondary microcephaly	0	RAB3GAP2 CL E G H	25782	17168	OMIM:614225	Warburg micro syndrome 2	.	135
HP:0005484	HP:0005484	Secondary microcephaly	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0005484	HP:0005484	Secondary microcephaly	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0005484	HP:0005484	Secondary microcephaly	0	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3		60
HP:0005484	HP:0005484	Secondary microcephaly	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0005484	HP:0005484	Secondary microcephaly	0	RUSC2 CL E G H	9853	23625	OMIM:617773	Mental retardation, autosomal recessive 61	.
HP:0005484	HP:0005484	Secondary microcephaly	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0005484	HP:0005484	Secondary microcephaly	0	SCN1A CL E G H	6323	10585	OMIM:607208	Epileptic encephalopathy, early infantile, 6 (Dravet syndrome)	.	1053
HP:0005484	HP:0005484	Secondary microcephaly	0	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13		357
HP:0005484	HP:0005484	Secondary microcephaly	0	SDHD CL E G H	6392	10683	OMIM:619167	MITOCHONDRIAL COMPLEX II DEFICIENCY, NUCLEAR TYPE 3; MC2DN3		129
HP:0005484	HP:0005484	Secondary microcephaly	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0005484	HP:0005484	Secondary microcephaly	0	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D		66
HP:0005484	HP:0005484	Secondary microcephaly	0	SLC12A5 CL E G H	57468	13818	OMIM:616645	Epileptic encephalopathy, early infantile, 34		8
HP:0005484	HP:0005484	Secondary microcephaly	0	SLC18A2 CL E G H	6571	10935	ORPHA:352649	Brain dopamine-serotonin vesicular transport disease	HP:0040281 - Very frequent	2
HP:0005484	HP:0005484	Secondary microcephaly	0	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly		4
HP:0005484	HP:0005484	Secondary microcephaly	0	SLC1A4 CL E G H	6509	10942	ORPHA:447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	HP:0040282 - Frequent	4
HP:0005484	HP:0005484	Secondary microcephaly	0	SLC25A12 CL E G H	8604	10982	OMIM:612949	Epileptic encephalopathy, early infantile, 39		44
HP:0005484	HP:0005484	Secondary microcephaly	0	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type		36
HP:0005484	HP:0005484	Secondary microcephaly	0	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3		166
HP:0005484	HP:0005484	Secondary microcephaly	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0005484	HP:0005484	Secondary microcephaly	0	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome		255
HP:0005484	HP:0005484	Secondary microcephaly	0	SLC2A1 CL E G H	6513	11005	OMIM:606777	Glut1 deficiency syndrome 1	.	255
HP:0005484	HP:0005484	Secondary microcephaly	0	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome		5
HP:0005484	HP:0005484	Secondary microcephaly	0	SLC39A14 CL E G H	23516	20858	OMIM:617013	Hypermanganesemia with dystonia 2	HP:0040283 - Occasional	5
HP:0005484	HP:0005484	Secondary microcephaly	0	SMC1A CL E G H	8243	11111	ORPHA:3095	Atypical Rett syndrome	HP:0040282 - Frequent	135
HP:0005484	HP:0005484	Secondary microcephaly	0	SMC3 CL E G H	9126	2468	OMIM:610759	Cornelia de Lange syndrome 3		91
HP:0005484	HP:0005484	Secondary microcephaly	0	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0005484	HP:0005484	Secondary microcephaly	0	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0005484	HP:0005484	Secondary microcephaly	0	SNRPN CL E G H	6638	11164	OMIM:105830	Angelman syndrome		37
HP:0005484	HP:0005484	Secondary microcephaly	0	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		37
HP:0005484	HP:0005484	Secondary microcephaly	0	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5		416
HP:0005484	HP:0005484	Secondary microcephaly	0	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome		24
HP:0005484	HP:0005484	Secondary microcephaly	0	TAF2 CL E G H	6873	11536	OMIM:615599	Mental retardation, autosomal recessive 40	.	7
HP:0005484	HP:0005484	Secondary microcephaly	0	TAF2 CL E G H	6873	11536	ORPHA:397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	HP:0040282 - Frequent	7
HP:0005484	HP:0005484	Secondary microcephaly	0	TBC1D20 CL E G H	128637	16133	OMIM:615663	Warburg micro syndrome 4		15
HP:0005484	HP:0005484	Secondary microcephaly	0	TBC1D24 CL E G H	57465	29203	OMIM:615338	Epileptic encephalopathy, early infantile, 16	.	271
HP:0005484	HP:0005484	Secondary microcephaly	0	TBCD CL E G H	6904	11581	ORPHA:496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	HP:0040282 - Frequent	16
HP:0005484	HP:0005484	Secondary microcephaly	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0005484	HP:0005484	Secondary microcephaly	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0005484	HP:0005484	Secondary microcephaly	0	TMEM165 CL E G H	55858	30760	OMIM:614727	Congenital disorder of glycosylation, type IIK	.	24
HP:0005484	HP:0005484	Secondary microcephaly	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0005484	HP:0005484	Secondary microcephaly	0	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:0005484	HP:0005484	Secondary microcephaly	0	TRAPPC2L CL E G H	51693	30887	OMIM:618331	Encephalopathy, progressive, early-onset, with episodic rhabdomyolysis	.
HP:0005484	HP:0005484	Secondary microcephaly	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy
HP:0005484	HP:0005484	Secondary microcephaly	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13	.	158
HP:0005484	HP:0005484	Secondary microcephaly	0	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1		56
HP:0005484	HP:0005484	Secondary microcephaly	0	TRIO CL E G H	7204	12303	ORPHA:476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	HP:0040283 - Occasional	8
HP:0005484	HP:0005484	Secondary microcephaly	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0005484	HP:0005484	Secondary microcephaly	0	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F		3
HP:0005484	HP:0005484	Secondary microcephaly	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0005484	HP:0005484	Secondary microcephaly	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0005484	HP:0005484	Secondary microcephaly	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0005484	HP:0005484	Secondary microcephaly	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0005484	HP:0005484	Secondary microcephaly	0	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A		102
HP:0005484	HP:0005484	Secondary microcephaly	0	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0005484	HP:0005484	Secondary microcephaly	0	UBA5 CL E G H	79876	23230	OMIM:617132	Epileptic encephalopathy, early infantile, 44	.	13
HP:0005484	HP:0005484	Secondary microcephaly	0	UBE3A CL E G H	7337	12496	OMIM:105830	Angelman syndrome		278
HP:0005484	HP:0005484	Secondary microcephaly	0	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent	278
HP:0005484	HP:0005484	Secondary microcephaly	0	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13		278
HP:0005484	HP:0005484	Secondary microcephaly	0	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent	278
HP:0005484	HP:0005484	Secondary microcephaly	0	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	278
HP:0005484	HP:0005484	Secondary microcephaly	0	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy
HP:0005484	HP:0005484	Secondary microcephaly	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0005484	HP:0005484	Secondary microcephaly	0	VPS50 CL E G H	55610	25956	OMIM:619685	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, SEIZURES, AND NEONATAL CHOLESTASIS; NEDMSC
HP:0005484	HP:0005484	Secondary microcephaly	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0005484	HP:0005484	Secondary microcephaly	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0005484	HP:0005484	Secondary microcephaly	0	WDR37 CL E G H	22884	31406	OMIM:618652	NEUROOCULOCARDIOGENITOURINARY SYNDROME; NOCGUS
HP:0005484	HP:0005484	Secondary microcephaly	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0005484	HP:0005484	Secondary microcephaly	0	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28		149
HP:0005484	HP:0005484	Secondary microcephaly	0	YRDC CL E G H	79693	28905	OMIM:619609	GALLOWAY-MOWAT SYNDROME 10; GAMOS10
HP:0005484	HP:0005484	Secondary microcephaly	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0005484	HP:0005484	Secondary microcephaly	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0005484	HP:0005484	Secondary microcephaly	0	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1
HP:0005484	HP:0005484	Secondary microcephaly	0	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features		5
HP:0005484	HP:0000253	Progressive microcephaly	1	ACBD5 CL E G H	91452	23338	OMIM:618863	RETINAL DYSTROPHY WITH LEUKODYSTROPHY; RDLKD		1
HP:0005484	HP:0000253	Progressive microcephaly	1	ACO2 CL E G H	50	118	OMIM:614559	INFANTILE CEREBELLAR-RETINAL DEGENERATION; ICRD		60
HP:0005484	HP:0000253	Progressive microcephaly	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0005484	HP:0000253	Progressive microcephaly	1	ALG1 CL E G H	56052	18294	ORPHA:79327	ALG1-CDG	HP:0040282 - Frequent	58
HP:0005484	HP:0000253	Progressive microcephaly	1	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040282 - Frequent	68
HP:0005484	HP:0000253	Progressive microcephaly	1	ALG12 CL E G H	79087	19358	OMIM:607143	Congenital disorder of glycosylation, type Ig		68
HP:0005484	HP:0000253	Progressive microcephaly	1	ALG9 CL E G H	79796	15672	ORPHA:79328	ALG9-CDG	HP:0040282 - Frequent	93
HP:0005484	HP:0000253	Progressive microcephaly	1	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0005484	HP:0000253	Progressive microcephaly	1	ARFGEF2 CL E G H	10564	15853	OMIM:608097	Periventricular heterotopia with microcephaly, autosomal recessive	.	179
HP:0005484	HP:0000253	Progressive microcephaly	1	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0005484	HP:0004485	Cessation of head growth	1	ATP10A CL E G H	57194	13542	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	4
HP:0005484	HP:0000253	Progressive microcephaly	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	140
HP:0005484	HP:0000253	Progressive microcephaly	1	ATP6V0A2 CL E G H	23545	18481	OMIM:278250	Wrinkly skin syndrome	.	140
HP:0005484	HP:0000253	Progressive microcephaly	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040281 - Very frequent	140
HP:0005484	HP:0000253	Progressive microcephaly	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	3
HP:0005484	HP:0000253	Progressive microcephaly	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040281 - Very frequent	2
HP:0005484	HP:0000253	Progressive microcephaly	1	BRAT1 CL E G H	221927	21701	OMIM:614498	Rigidity and multifocal seizure syndrome, lethal neonatal	.	20
HP:0005484	HP:0000253	Progressive microcephaly	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.	118
HP:0005484	HP:0000253	Progressive microcephaly	1	CC2D1A CL E G H	54862	30237	OMIM:608443	Mental retardation, autosomal recessive 3		57
HP:0005484	HP:0000253	Progressive microcephaly	1	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0005484	HP:0000253	Progressive microcephaly	1	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0005484	HP:0000253	Progressive microcephaly	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0005484	HP:0000253	Progressive microcephaly	1	CDKL5 CL E G H	6792	11411	OMIM:300672	Developmental and epileptic encephalopathy 2	.	405
HP:0005484	HP:0000253	Progressive microcephaly	1	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0005484	HP:0000253	Progressive microcephaly	1	CNP CL E G H	1267	2158	OMIM:619071	LEUKODYSTROPHY, HYPOMYELINATING, 20; HLD20
HP:0005484	HP:0000253	Progressive microcephaly	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040283 - Occasional	52
HP:0005484	HP:0000253	Progressive microcephaly	1	COG1 CL E G H	9382	6545	OMIM:611209	Congenital disorder of glycosylation, type IIg	.	52
HP:0005484	HP:0000253	Progressive microcephaly	1	COG7 CL E G H	91949	18622	ORPHA:79333	COG7-CDG		64
HP:0005484	HP:0000253	Progressive microcephaly	1	COG7 CL E G H	91949	18622	OMIM:608779	Congenital disorder of glycosylation, type IIe	.	64
HP:0005484	HP:0000253	Progressive microcephaly	1	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional	39
HP:0005484	HP:0000253	Progressive microcephaly	1	DOLK CL E G H	22845	23406	ORPHA:91131	DK1-CDG		55
HP:0005484	HP:0000253	Progressive microcephaly	1	DPM2 CL E G H	8818	3006	ORPHA:329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	HP:0040282 - Frequent	26
HP:0005484	HP:0000253	Progressive microcephaly	1	EFTUD2 CL E G H	9343	30858	OMIM:610536	Mandibulofacial dysostosis, Guion-Almeida type	.	48
HP:0005484	HP:0004485	Cessation of head growth	1	EIF2B1 CL E G H	1967	3257	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	42
HP:0005484	HP:0004485	Cessation of head growth	1	EIF2B2 CL E G H	8892	3258	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	24
HP:0005484	HP:0004485	Cessation of head growth	1	EIF2B3 CL E G H	8891	3259	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	32
HP:0005484	HP:0004485	Cessation of head growth	1	EIF2B4 CL E G H	8890	3260	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	38
HP:0005484	HP:0004485	Cessation of head growth	1	EIF2B5 CL E G H	8893	3261	OMIM:603896	Leukoencephalopathy with vanishing white matter	.	48
HP:0005484	HP:0000253	Progressive microcephaly	1	EMC1 CL E G H	23065	28957	ORPHA:480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	HP:0040282 - Frequent	5
HP:0005484	HP:0000253	Progressive microcephaly	1	ERCC6 CL E G H	2074	3438	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	199
HP:0005484	HP:0000253	Progressive microcephaly	1	ERCC8 CL E G H	1161	3439	ORPHA:90324	Cockayne syndrome type 3	HP:0040283 - Occasional	55
HP:0005484	HP:0000253	Progressive microcephaly	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0005484	HP:0000253	Progressive microcephaly	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0005484	HP:0000253	Progressive microcephaly	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0005484	HP:0000253	Progressive microcephaly	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0005484	HP:0000253	Progressive microcephaly	1	EXTL3 CL E G H	2137	3518	OMIM:617425	Immunoskeletal dysplasia with neurodevelopmental abnormalities	HP:0040283 - Occasional	3
HP:0005484	HP:0000253	Progressive microcephaly	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040282 - Frequent	7
HP:0005484	HP:0000253	Progressive microcephaly	1	FOXG1 CL E G H	2290	3811	OMIM:613454	Rett syndrome, congenital variant		177
HP:0005484	HP:0000253	Progressive microcephaly	1	GLYCTK CL E G H	132158	24247	ORPHA:941	D-glyceric aciduria	HP:0040283 - Occasional	6
HP:0005484	HP:0000253	Progressive microcephaly	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0005484	HP:0000253	Progressive microcephaly	1	GRIA2 CL E G H	2891	4572	OMIM:618917	NEURODEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND BEHAVIORAL ABNORMALITIES; NEDLIB		1
HP:0005484	HP:0000253	Progressive microcephaly	1	IQSEC2 CL E G H	23096	29059	ORPHA:397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	HP:0040282 - Frequent	119
HP:0005484	HP:0000253	Progressive microcephaly	1	LAMB2 CL E G H	3913	6487	OMIM:609049	Pierson syndrome		92
HP:0005484	HP:0000253	Progressive microcephaly	1	LGI3 CL E G H	203190	18711	OMIM:620007
HP:0005484	HP:0000253	Progressive microcephaly	1	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0005484	HP:0000253	Progressive microcephaly	1	MECP2 CL E G H	4204	6990	OMIM:300673	Encephalopathy, neonatal severe, due to mecp2 mutations	.	950
HP:0005484	HP:0000253	Progressive microcephaly	1	MECP2 CL E G H	4204	6990	ORPHA:778	Rett syndrome	HP:0040281 - Very frequent	950
HP:0005484	HP:0000253	Progressive microcephaly	1	MED17 CL E G H	9440	2375	OMIM:613668	Microcephaly, postnatal progressive, with seizures and brain atrophy	.	23
HP:0005484	HP:0000253	Progressive microcephaly	1	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0005484	HP:0000253	Progressive microcephaly	1	MGAT2 CL E G H	4247	7045	ORPHA:79329	MGAT2-CDG	HP:0040282 - Frequent	39
HP:0005484	HP:0000253	Progressive microcephaly	1	MPC1 CL E G H	51660	21606	OMIM:614741	Mitochondrial pyruvate carrier deficiency	HP:0040283 - Occasional	6
HP:0005484	HP:0000253	Progressive microcephaly	1	NAPB CL E G H	63908	15751	OMIM:620033			2
HP:0005484	HP:0000253	Progressive microcephaly	1	NDUFS1 CL E G H	4719	7707	OMIM:618226	Mitochondrial complex I deficiency, nuclear type 5	HP:0040284 - Very rare	81
HP:0005484	HP:0004485	Cessation of head growth	1	OCA2 CL E G H	4948	8101	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent	121
HP:0005484	HP:0000253	Progressive microcephaly	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0005484	HP:0000253	Progressive microcephaly	1	PCDH12 CL E G H	51294	8657	OMIM:251280	Microcephaly, seizures, spasticity, and brain calcifications	.
HP:0005484	HP:0000253	Progressive microcephaly	1	PCLO CL E G H	27445	13406	OMIM:608027	Pontocerebellar hypoplasia, type 3	.	6
HP:0005484	HP:0004485	Cessation of head growth	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0005484	HP:0000253	Progressive microcephaly	1	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies		3
HP:0005484	HP:0000253	Progressive microcephaly	1	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay		244
HP:0005484	HP:0000253	Progressive microcephaly	1	PNPO CL E G H	55163	30260	OMIM:610090	Pyridoxamine 5-prime-phosphate oxidase deficiency	.	92
HP:0005484	HP:0000253	Progressive microcephaly	1	POMK CL E G H	84197	26267	OMIM:615249	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12	.	18
HP:0005484	HP:0000253	Progressive microcephaly	1	PPT1 CL E G H	5538	9325	OMIM:256730	Ceroid lipofuscinosis, neuronal, 1	.	172
HP:0005484	HP:0000253	Progressive microcephaly	1	PTRH2 CL E G H	51651	24265	OMIM:616263	Neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset	.	6
HP:0005484	HP:0000253	Progressive microcephaly	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040282 - Frequent	1
HP:0005484	HP:0000253	Progressive microcephaly	1	PYCR2 CL E G H	29920	30262	OMIM:616420	Leukodystrophy, hypomyelinating, 10	.	11
HP:0005484	HP:0000253	Progressive microcephaly	1	PYCR2 CL E G H	29920	30262	ORPHA:481152	PYCR2-related microcephaly-progressive leukoencephalopathy	HP:0040281 - Very frequent	11
HP:0005484	HP:0000253	Progressive microcephaly	1	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0005484	HP:0000253	Progressive microcephaly	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6	.	93
HP:0005484	HP:0000253	Progressive microcephaly	1	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4		33
HP:0005484	HP:0000253	Progressive microcephaly	1	RNASEH2C CL E G H	84153	24116	OMIM:610329	Aicardi-Goutieres syndrome 3		60
HP:0005484	HP:0000253	Progressive microcephaly	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0005484	HP:0000253	Progressive microcephaly	1	SCN8A CL E G H	6334	10596	OMIM:614558	Epileptic encephalopathy, early infantile, 13	.	357
HP:0005484	HP:0000253	Progressive microcephaly	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	66
HP:0005484	HP:0000253	Progressive microcephaly	1	SEPSECS CL E G H	51091	30605	OMIM:613811	Pontocerebellar hypoplasia, type 2D	.	66
HP:0005484	HP:0000253	Progressive microcephaly	1	SLC1A4 CL E G H	6509	10942	OMIM:616657	Spastic tetraplegia, thin corpus callosum, and progressive microcephaly	.	4
HP:0005484	HP:0000253	Progressive microcephaly	1	SLC25A19 CL E G H	60386	14409	OMIM:607196	Microcephaly, Amish type	.	36
HP:0005484	HP:0000253	Progressive microcephaly	1	SLC25A22 CL E G H	79751	19954	OMIM:609304	Epileptic encephalopathy, early infantile, 3	.	166
HP:0005484	HP:0000253	Progressive microcephaly	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0005484	HP:0000253	Progressive microcephaly	1	SLC2A1 CL E G H	6513	11005	ORPHA:71277	Classic glucose transporter type 1 deficiency syndrome	HP:0040281 - Very frequent	255
HP:0005484	HP:0000253	Progressive microcephaly	1	SLC39A14 CL E G H	23516	20858	ORPHA:521406	Dystonia-parkinsonism-hypermanganesemia syndrome	HP:0040282 - Frequent	5
HP:0005484	HP:0000253	Progressive microcephaly	1	SMPD4 CL E G H	55627	32949	OMIM:618622	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, ARTHROGRYPOSIS, AND STRUCTURAL BRAIN ANOMALIES; NEDMABA		1
HP:0005484	HP:0000253	Progressive microcephaly	1	SNAP29 CL E G H	9342	11133	OMIM:609528	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome		94
HP:0005484	HP:0004485	Cessation of head growth	1	SNRPN CL E G H	6638	11164	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	37
HP:0005484	HP:0000253	Progressive microcephaly	1	SPTAN1 CL E G H	6709	11273	OMIM:613477	Epileptic encephalopathy, early infantile, 5	HP:0040282 - Frequent	416
HP:0005484	HP:0000253	Progressive microcephaly	1	STAMBP CL E G H	10617	16950	OMIM:614261	Microcephaly-Capillary malformation syndrome	.	24
HP:0005484	HP:0000253	Progressive microcephaly	1	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7	.	6
HP:0005484	HP:0000253	Progressive microcephaly	1	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0005484	HP:0000253	Progressive microcephaly	1	TREX1 CL E G H	11277	12269	OMIM:225750	Aicardi-Goutieres syndrome 1	.	56
HP:0005484	HP:0000253	Progressive microcephaly	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	3
HP:0005484	HP:0000253	Progressive microcephaly	1	TSEN15 CL E G H	116461	16791	OMIM:617026	Pontocerebellar hypoplasia, type 2F	.	3
HP:0005484	HP:0000253	Progressive microcephaly	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	84
HP:0005484	HP:0000253	Progressive microcephaly	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	.	84
HP:0005484	HP:0000253	Progressive microcephaly	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	57
HP:0005484	HP:0000253	Progressive microcephaly	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040282 - Frequent	102
HP:0005484	HP:0000253	Progressive microcephaly	1	TSEN54 CL E G H	283989	27561	OMIM:277470	Pontocerebellar hypoplasia, type 2A	.	102
HP:0005484	HP:0000253	Progressive microcephaly	1	TUBGCP2 CL E G H	10844	18599	OMIM:618737	PACHYGYRIA, MICROCEPHALY, DEVELOPMENTAL DELAY, AND DYSMORPHIC FACIES, WITH OR WITHOUT SEIZURES; PAMDDFS
HP:0005484	HP:0004485	Cessation of head growth	1	UBE3A CL E G H	7337	12496	ORPHA:411511	Angelman syndrome due to a point mutation	HP:0040282 - Frequent	278
HP:0005484	HP:0004485	Cessation of head growth	1	UBE3A CL E G H	7337	12496	ORPHA:411515	Angelman syndrome due to imprinting defect in 15q11-q13	HP:0040283 - Occasional	278
HP:0005484	HP:0004485	Cessation of head growth	1	UBE3A CL E G H	7337	12496	ORPHA:98794	Angelman syndrome due to maternal 15q11q13 deletion	HP:0040281 - Very frequent	278
HP:0005484	HP:0004485	Cessation of head growth	1	UBE3A CL E G H	7337	12496	ORPHA:98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	HP:0040283 - Occasional	278
HP:0005484	HP:0000253	Progressive microcephaly	1	VARS1 CL E G H	7407	12651	OMIM:617802	Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy	.
HP:0005484	HP:0000253	Progressive microcephaly	1	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0005484	HP:0000253	Progressive microcephaly	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0005484	HP:0000253	Progressive microcephaly	1	WWOX CL E G H	51741	12799	OMIM:616211	Epileptic encephalopathy, early infantile, 28	.	149
HP:0005484	HP:0000253	Progressive microcephaly	1	ZNHIT3 CL E G H	9326	12309	OMIM:260565	Peho syndrome		1
HP:0005484	HP:0000253	Progressive microcephaly	1	ZSWIM6 CL E G H	57688	29316	OMIM:617865	Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features	.	5

Genes (186) :ACBD5 ACO2 ACTG1 ADAM22 AGTPBP1 ALG1 ALG12 ALG9 AMPD2 ARFGEF2 ARNT2 ASNS ATP10A ATP1A2 ATP6V0A2 ATP6V1A ATP6V1E1 BRAT1 C2ORF69 CACNA1B CARS2 CASK CC2D1A CCDC88A CDC42 CDC45 CDKL5 CERT1 CHMP1A CLP1 CLPB CLTC CNP COG1 COG2 COG6 COG7 COG8 COQ9 CREBBP CTNNA2 DCX DEGS1 DHFR DOLK DPM1 DPM2 EEF1A2 EFTUD2 EIF2B1 EIF2B2 EIF2B3 EIF2B4 EIF2B5 EMC1 EP300 ERCC6 ERCC8 EXOC2 EXOSC3 EXOSC8 EXOSC9 EXTL3 FAR1 FGF12 FOXG1 FOXRED1 FTO GABBR2 GABRA5 GABRB2 GLS GLYCTK GON7 GOT2 GPT2 GRIA2 GRIN2A HNRNPH2 HNRNPR HSPD1 HTRA2 IQSEC2 JAM3 KIF5C LAMB2 LGI3 MBD5 MDH1 MECP2 MED17 MFF MFSD2A MGAT2 MICOS13 MPC1 NACC1 NAPB NDUFA11 NDUFS1 NEXMIF NGLY1 NTNG1 NTRK2 OCA2 PAFAH1B1 PARS2 PCDH12 PCLO PIGA PLAA PLEKHG2 PLPBP PMPCB PNKP PNPO POMK PPP1R12A PPT1 PRORP PSAT1 PTRH2 PUF60 PUS3 PYCR2 QARS1 RAB18 RAB3GAP2 RARS2 RNASEH2A RNASEH2C RNF113A RUSC2 SATB1 SCN1A SCN8A SDHD SEPSECS SLC12A5 SLC18A2 SLC1A4 SLC25A12 SLC25A19 SLC25A22 SLC25A46 SLC2A1 SLC39A14 SMC1A SMC3 SMPD4 SNAP29 SNRPN SPTAN1 STAMBP TAF2 TBC1D20 TBC1D24 TBCD TCF4 TMEM165 TOE1 TRAPPC12 TRAPPC2L TRAPPC6B TRAPPC9 TREX1 TRIO TSEN15 TSEN2 TSEN34 TSEN54 TUBGCP2 UBA5 UBE3A VARS1 VPS11 VPS50 VPS53 VRK1 WDR37 WDR73 WWOX YRDC ZEB2 ZNHIT3 ZSWIM6

Diseases (199) :OMIM:618863 OMIM:614559 OMIM:614583 OMIM:617933 ORPHA:2254 ORPHA:79327 ORPHA:79324 OMIM:607143 ORPHA:79328 OMIM:615809 OMIM:608097 OMIM:615926 OMIM:615574 ORPHA:411515 OMIM:619605 ORPHA:357074 OMIM:278250 ORPHA:2834 OMIM:614498 OMIM:619423 OMIM:618497 OMIM:616672 OMIM:300749 OMIM:608443 OMIM:617507 OMIM:616737 OMIM:617063 ORPHA:3095 OMIM:300672 OMIM:616351 OMIM:614961 OMIM:615803 OMIM:619835 OMIM:617854 OMIM:619071 ORPHA:263508 OMIM:611209 ORPHA:435934 OMIM:617395 ORPHA:363523 ORPHA:79333 OMIM:608779 ORPHA:95428 OMIM:614654 ORPHA:353281 ORPHA:353277 OMIM:618174 ORPHA:2148 OMIM:618404 OMIM:613839 OMIM:610768 ORPHA:91131 OMIM:608799 ORPHA:79322 OMIM:615042 ORPHA:329178 OMIM:616409 OMIM:610536 ORPHA:79113 OMIM:603896 OMIM:616875 ORPHA:480898 ORPHA:353284 ORPHA:90324 OMIM:619306 OMIM:614678 OMIM:617425 ORPHA:438178 OMIM:617166 OMIM:613454 OMIM:618241 OMIM:612938 OMIM:618559 OMIM:617829 OMIM:618339 ORPHA:941 OMIM:619603 OMIM:618721 OMIM:616281 OMIM:618917 ORPHA:289266 OMIM:300986 OMIM:620073 OMIM:612233 OMIM:617248 OMIM:309530 ORPHA:397933 OMIM:613730 OMIM:615282 OMIM:609049 OMIM:620007 OMIM:156200 OMIM:618959 OMIM:300673 OMIM:312750 ORPHA:778 OMIM:613668 OMIM:617086 ORPHA:485421 OMIM:616486 ORPHA:79329 OMIM:618329 OMIM:614741 OMIM:617393 OMIM:620033 OMIM:618236 OMIM:618226 OMIM:300912 ORPHA:404454 OMIM:617830 ORPHA:98794 OMIM:607432 ORPHA:95232 OMIM:618437 OMIM:251280 OMIM:608027 OMIM:300868 OMIM:617527 OMIM:616763 OMIM:617290 OMIM:617954 OMIM:613402 OMIM:610090 OMIM:615249 OMIM:618820 OMIM:256730 OMIM:619737 OMIM:610992 ORPHA:456312 OMIM:616263 ORPHA:508488 ORPHA:488627 OMIM:616420 ORPHA:481152 OMIM:615760 OMIM:614222 OMIM:614225 OMIM:611523 OMIM:610333 OMIM:610329 OMIM:300953 OMIM:617773 OMIM:619229 OMIM:607208 OMIM:614558 OMIM:619167 ORPHA:2524 OMIM:613811 OMIM:616645 ORPHA:352649 OMIM:616657 ORPHA:447997 OMIM:612949 OMIM:607196 OMIM:609304 ORPHA:71277 OMIM:606777 ORPHA:521406 OMIM:617013 OMIM:610759 OMIM:618622 OMIM:609528 OMIM:105830 OMIM:613477 OMIM:614261 OMIM:615599 ORPHA:397951 OMIM:615663 OMIM:615338 ORPHA:496641 OMIM:617193 OMIM:610954 OMIM:614727 OMIM:614969 ORPHA:500144 OMIM:618331 OMIM:617862 OMIM:613192 OMIM:225750 ORPHA:476126 OMIM:617026 OMIM:612389 OMIM:277470 OMIM:618737 OMIM:617132 ORPHA:411511 ORPHA:98795 OMIM:617802 OMIM:616683 OMIM:619685 OMIM:615851 OMIM:618652 OMIM:251300 OMIM:616211 OMIM:619609 ORPHA:261552 ORPHA:261537 OMIM:260565 OMIM:617865

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.

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