Human Phenotype Ontology

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:0002438	HP:0002438	Cerebellar malformation	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002438	HP:0002438	Cerebellar malformation	0	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0002438	HP:0002438	Cerebellar malformation	0	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0002438	HP:0002438	Cerebellar malformation	0	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0002438	HP:0002438	Cerebellar malformation	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0002438	HP:0002438	Cerebellar malformation	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0002438	HP:0002438	Cerebellar malformation	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0002438	HP:0002438	Cerebellar malformation	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002438	HP:0002438	Cerebellar malformation	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0002438	HP:0002438	Cerebellar malformation	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002438	HP:0002438	Cerebellar malformation	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0002438	HP:0002438	Cerebellar malformation	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002438	HP:0002438	Cerebellar malformation	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0002438	HP:0002438	Cerebellar malformation	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0002438	HP:0002438	Cerebellar malformation	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0002438	HP:0002438	Cerebellar malformation	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0002438	HP:0002438	Cerebellar malformation	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0002438	HP:0002438	Cerebellar malformation	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0002438	HP:0002438	Cerebellar malformation	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0002438	HP:0002438	Cerebellar malformation	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0002438	HP:0002438	Cerebellar malformation	0	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11		43
HP:0002438	HP:0002438	Cerebellar malformation	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0002438	HP:0002438	Cerebellar malformation	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0002438	HP:0002438	Cerebellar malformation	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0002438	HP:0002438	Cerebellar malformation	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0002438	HP:0002438	Cerebellar malformation	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0002438	HP:0002438	Cerebellar malformation	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0002438	HP:0002438	Cerebellar malformation	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0002438	HP:0002438	Cerebellar malformation	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002438	HP:0002438	Cerebellar malformation	0	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002438	HP:0002438	Cerebellar malformation	0	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002438	HP:0002438	Cerebellar malformation	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0002438	HP:0002438	Cerebellar malformation	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0002438	HP:0002438	Cerebellar malformation	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002438	HP:0002438	Cerebellar malformation	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0002438	HP:0002438	Cerebellar malformation	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0002438	HP:0002438	Cerebellar malformation	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0002438	HP:0002438	Cerebellar malformation	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0002438	HP:0002438	Cerebellar malformation	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0002438	HP:0002438	Cerebellar malformation	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0002438	HP:0002438	Cerebellar malformation	0	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0002438	HP:0002438	Cerebellar malformation	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0002438	HP:0002438	Cerebellar malformation	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0002438	HP:0002438	Cerebellar malformation	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0002438	HP:0002438	Cerebellar malformation	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002438	HP:0002438	Cerebellar malformation	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0002438	HP:0002438	Cerebellar malformation	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome		14
HP:0002438	HP:0002438	Cerebellar malformation	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0002438	HP:0002438	Cerebellar malformation	0	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome		749
HP:0002438	HP:0002438	Cerebellar malformation	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0002438	HP:0002438	Cerebellar malformation	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0002438	HP:0002438	Cerebellar malformation	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0002438	HP:0002438	Cerebellar malformation	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0002438	HP:0002438	Cerebellar malformation	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability
HP:0002438	HP:0002438	Cerebellar malformation	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0002438	HP:0002438	Cerebellar malformation	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002438	HP:0002438	Cerebellar malformation	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0002438	HP:0002438	Cerebellar malformation	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0002438	HP:0002438	Cerebellar malformation	0	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0002438	HP:0002438	Cerebellar malformation	0	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0002438	HP:0002438	Cerebellar malformation	0	CYTB CL E G H	4519	7427	ORPHA:137675	Histiocytoid cardiomyopathy	HP:0040284 - Very rare
HP:0002438	HP:0002438	Cerebellar malformation	0	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome		2
HP:0002438	HP:0002438	Cerebellar malformation	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0002438	HP:0002438	Cerebellar malformation	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9		108
HP:0002438	HP:0002438	Cerebellar malformation	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0002438	HP:0002438	Cerebellar malformation	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0002438	HP:0002438	Cerebellar malformation	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002438	HP:0002438	Cerebellar malformation	0	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0002438	HP:0002438	Cerebellar malformation	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0002438	HP:0002438	Cerebellar malformation	0	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0002438	HP:0002438	Cerebellar malformation	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome		44
HP:0002438	HP:0002438	Cerebellar malformation	0	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0002438	HP:0002438	Cerebellar malformation	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0002438	HP:0002438	Cerebellar malformation	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0002438	HP:0002438	Cerebellar malformation	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0002438	HP:0002438	Cerebellar malformation	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0002438	HP:0002438	Cerebellar malformation	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002438	HP:0002438	Cerebellar malformation	0	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3		304
HP:0002438	HP:0002438	Cerebellar malformation	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0002438	HP:0002438	Cerebellar malformation	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002438	HP:0002438	Cerebellar malformation	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002438	HP:0002438	Cerebellar malformation	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0002438	HP:0002438	Cerebellar malformation	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0002438	HP:0002438	Cerebellar malformation	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0002438	HP:0002438	Cerebellar malformation	0	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome		172
HP:0002438	HP:0002438	Cerebellar malformation	0	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0002438	HP:0002438	Cerebellar malformation	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0002438	HP:0002438	Cerebellar malformation	0	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0002438	HP:0002438	Cerebellar malformation	0	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease		12
HP:0002438	HP:0002438	Cerebellar malformation	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0002438	HP:0002438	Cerebellar malformation	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0002438	HP:0002438	Cerebellar malformation	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0002438	HP:0002438	Cerebellar malformation	0	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0002438	HP:0002438	Cerebellar malformation	0	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B		38
HP:0002438	HP:0002438	Cerebellar malformation	0	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0002438	HP:0002438	Cerebellar malformation	0	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002438	HP:0002438	Cerebellar malformation	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0002438	HP:0002438	Cerebellar malformation	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0002438	HP:0002438	Cerebellar malformation	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0002438	HP:0002438	Cerebellar malformation	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome		1361
HP:0002438	HP:0002438	Cerebellar malformation	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0002438	HP:0002438	Cerebellar malformation	0	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome		172
HP:0002438	HP:0002438	Cerebellar malformation	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome		175
HP:0002438	HP:0002438	Cerebellar malformation	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0002438	HP:0002438	Cerebellar malformation	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0002438	HP:0002438	Cerebellar malformation	0	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease		175
HP:0002438	HP:0002438	Cerebellar malformation	0	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome		175
HP:0002438	HP:0002438	Cerebellar malformation	0	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2		175
HP:0002438	HP:0002438	Cerebellar malformation	0	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3		175
HP:0002438	HP:0002438	Cerebellar malformation	0	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome		145
HP:0002438	HP:0002438	Cerebellar malformation	0	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0002438	HP:0002438	Cerebellar malformation	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		157
HP:0002438	HP:0002438	Cerebellar malformation	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0002438	HP:0002438	Cerebellar malformation	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0002438	HP:0002438	Cerebellar malformation	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5		157
HP:0002438	HP:0002438	Cerebellar malformation	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0002438	HP:0002438	Cerebellar malformation	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		184
HP:0002438	HP:0002438	Cerebellar malformation	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0002438	HP:0002438	Cerebellar malformation	0	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4		184
HP:0002438	HP:0002438	Cerebellar malformation	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0002438	HP:0002438	Cerebellar malformation	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0002438	HP:0002438	Cerebellar malformation	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0002438	HP:0002438	Cerebellar malformation	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002438	HP:0002438	Cerebellar malformation	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0002438	HP:0002438	Cerebellar malformation	0	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence		3
HP:0002438	HP:0002438	Cerebellar malformation	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002438	HP:0002438	Cerebellar malformation	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002438	HP:0002438	Cerebellar malformation	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0002438	HP:0002438	Cerebellar malformation	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0002438	HP:0002438	Cerebellar malformation	0	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome		7
HP:0002438	HP:0002438	Cerebellar malformation	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0002438	HP:0002438	Cerebellar malformation	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0002438	HP:0002438	Cerebellar malformation	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0002438	HP:0002438	Cerebellar malformation	0	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome		1
HP:0002438	HP:0002438	Cerebellar malformation	0	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome		1
HP:0002438	HP:0002438	Cerebellar malformation	0	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome		1
HP:0002438	HP:0002438	Cerebellar malformation	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002438	HP:0002438	Cerebellar malformation	0	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome		2
HP:0002438	HP:0002438	Cerebellar malformation	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0002438	HP:0002438	Cerebellar malformation	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0002438	HP:0002438	Cerebellar malformation	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002438	HP:0002438	Cerebellar malformation	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0002438	HP:0002438	Cerebellar malformation	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0002438	HP:0002438	Cerebellar malformation	0	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0002438	HP:0002438	Cerebellar malformation	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0002438	HP:0002438	Cerebellar malformation	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0002438	HP:0002438	Cerebellar malformation	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0002438	HP:0002438	Cerebellar malformation	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0002438	HP:0002438	Cerebellar malformation	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0002438	HP:0002438	Cerebellar malformation	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0002438	HP:0002438	Cerebellar malformation	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0002438	HP:0002438	Cerebellar malformation	0	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0002438	HP:0002438	Cerebellar malformation	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0002438	HP:0002438	Cerebellar malformation	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome		35
HP:0002438	HP:0002438	Cerebellar malformation	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0002438	HP:0002438	Cerebellar malformation	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0002438	HP:0002438	Cerebellar malformation	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0002438	HP:0002438	Cerebellar malformation	0	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome		68
HP:0002438	HP:0002438	Cerebellar malformation	0	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		8
HP:0002438	HP:0002438	Cerebellar malformation	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0002438	HP:0002438	Cerebellar malformation	0	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0002438	HP:0002438	Cerebellar malformation	0	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form		136
HP:0002438	HP:0002438	Cerebellar malformation	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0002438	HP:0002438	Cerebellar malformation	0	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome		1
HP:0002438	HP:0002438	Cerebellar malformation	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0002438	HP:0002438	Cerebellar malformation	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0002438	HP:0002438	Cerebellar malformation	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0002438	HP:0002438	Cerebellar malformation	0	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome		1
HP:0002438	HP:0002438	Cerebellar malformation	0	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0002438	HP:0002438	Cerebellar malformation	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002438	HP:0002438	Cerebellar malformation	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0002438	HP:0002438	Cerebellar malformation	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0002438	HP:0002438	Cerebellar malformation	0	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome		13
HP:0002438	HP:0002438	Cerebellar malformation	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0002438	HP:0002438	Cerebellar malformation	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0002438	HP:0002438	Cerebellar malformation	0	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002438	HP:0002438	Cerebellar malformation	0	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0002438	HP:0002438	Cerebellar malformation	0	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome		138
HP:0002438	HP:0002438	Cerebellar malformation	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0002438	HP:0002438	Cerebellar malformation	0	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome		144
HP:0002438	HP:0002438	Cerebellar malformation	0	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0002438	HP:0002438	Cerebellar malformation	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002438	HP:0002438	Cerebellar malformation	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0002438	HP:0002438	Cerebellar malformation	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0002438	HP:0002438	Cerebellar malformation	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0002438	HP:0002438	Cerebellar malformation	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0002438	HP:0002438	Cerebellar malformation	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0002438	HP:0002438	Cerebellar malformation	0	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0002438	HP:0002438	Cerebellar malformation	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0002438	HP:0002438	Cerebellar malformation	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0002438	HP:0002438	Cerebellar malformation	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0002438	HP:0002438	Cerebellar malformation	0	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0002438	HP:0002438	Cerebellar malformation	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		88
HP:0002438	HP:0002438	Cerebellar malformation	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia		217
HP:0002438	HP:0002438	Cerebellar malformation	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0002438	HP:0002438	Cerebellar malformation	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0002438	HP:0002438	Cerebellar malformation	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0002438	HP:0002438	Cerebellar malformation	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome		162
HP:0002438	HP:0002438	Cerebellar malformation	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002438	HP:0002438	Cerebellar malformation	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0002438	HP:0002438	Cerebellar malformation	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0002438	HP:0002438	Cerebellar malformation	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0002438	HP:0002438	Cerebellar malformation	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002438	HP:0002438	Cerebellar malformation	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0002438	HP:0002438	Cerebellar malformation	0	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0002438	HP:0002438	Cerebellar malformation	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0002438	HP:0002438	Cerebellar malformation	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3		180
HP:0002438	HP:0002438	Cerebellar malformation	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3		180
HP:0002438	HP:0002438	Cerebellar malformation	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0002438	HP:0002438	Cerebellar malformation	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0002438	HP:0002438	Cerebellar malformation	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0002438	HP:0002438	Cerebellar malformation	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0002438	HP:0002438	Cerebellar malformation	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0002438	HP:0002438	Cerebellar malformation	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability		213
HP:0002438	HP:0002438	Cerebellar malformation	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0002438	HP:0002438	Cerebellar malformation	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0002438	HP:0002438	Cerebellar malformation	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0002438	HP:0002438	Cerebellar malformation	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0002438	HP:0002438	Cerebellar malformation	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0002438	HP:0002438	Cerebellar malformation	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0002438	HP:0002438	Cerebellar malformation	0	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis		76
HP:0002438	HP:0002438	Cerebellar malformation	0	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency		76
HP:0002438	HP:0002438	Cerebellar malformation	0	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia		20
HP:0002438	HP:0002438	Cerebellar malformation	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002438	HP:0002438	Cerebellar malformation	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002438	HP:0002438	Cerebellar malformation	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3		665
HP:0002438	HP:0002438	Cerebellar malformation	0	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0002438	HP:0002438	Cerebellar malformation	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0002438	HP:0002438	Cerebellar malformation	0	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0002438	HP:0002438	Cerebellar malformation	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0002438	HP:0002438	Cerebellar malformation	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0002438	HP:0002438	Cerebellar malformation	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0002438	HP:0002438	Cerebellar malformation	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0002438	HP:0002438	Cerebellar malformation	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome		124
HP:0002438	HP:0002438	Cerebellar malformation	0	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis		80
HP:0002438	HP:0002438	Cerebellar malformation	0	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002438	HP:0002438	Cerebellar malformation	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0002438	HP:0002438	Cerebellar malformation	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0002438	HP:0002438	Cerebellar malformation	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0002438	HP:0002438	Cerebellar malformation	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0002438	HP:0002438	Cerebellar malformation	0	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia		2
HP:0002438	HP:0002438	Cerebellar malformation	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0002438	HP:0002438	Cerebellar malformation	0	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0002438	HP:0002438	Cerebellar malformation	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome		150
HP:0002438	HP:0002438	Cerebellar malformation	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0002438	HP:0002438	Cerebellar malformation	0	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0002438	HP:0002438	Cerebellar malformation	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0002438	HP:0002438	Cerebellar malformation	0	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0002438	HP:0002438	Cerebellar malformation	0	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002438	HP:0002438	Cerebellar malformation	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0002438	HP:0002438	Cerebellar malformation	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002438	HP:0002438	Cerebellar malformation	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0002438	HP:0002438	Cerebellar malformation	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0002438	HP:0002438	Cerebellar malformation	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0002438	HP:0002438	Cerebellar malformation	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0002438	HP:0002438	Cerebellar malformation	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002438	HP:0002438	Cerebellar malformation	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0002438	HP:0002438	Cerebellar malformation	0	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0002438	HP:0002438	Cerebellar malformation	0	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome		14
HP:0002438	HP:0002438	Cerebellar malformation	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0002438	HP:0002438	Cerebellar malformation	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0002438	HP:0002438	Cerebellar malformation	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0002438	HP:0002438	Cerebellar malformation	0	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0002438	HP:0002438	Cerebellar malformation	0	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002438	HP:0002438	Cerebellar malformation	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0002438	HP:0002438	Cerebellar malformation	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0002438	HP:0002438	Cerebellar malformation	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome		22
HP:0002438	HP:0002438	Cerebellar malformation	0	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0002438	HP:0002438	Cerebellar malformation	0	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0002438	HP:0002438	Cerebellar malformation	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0002438	HP:0002438	Cerebellar malformation	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0002438	HP:0002438	Cerebellar malformation	0	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0002438	HP:0002438	Cerebellar malformation	0	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0002438	HP:0002438	Cerebellar malformation	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0002438	HP:0002438	Cerebellar malformation	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002438	HP:0002438	Cerebellar malformation	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0002438	HP:0002438	Cerebellar malformation	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0002438	HP:0002438	Cerebellar malformation	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0002438	HP:0002438	Cerebellar malformation	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0002438	HP:0002438	Cerebellar malformation	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0002438	HP:0002438	Cerebellar malformation	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0002438	HP:0002438	Cerebellar malformation	0	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0002438	HP:0002438	Cerebellar malformation	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0002438	HP:0002438	Cerebellar malformation	0	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0002438	HP:0002438	Cerebellar malformation	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0002438	HP:0002438	Cerebellar malformation	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia
HP:0002438	HP:0002438	Cerebellar malformation	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0002438	HP:0002438	Cerebellar malformation	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0002438	HP:0002438	Cerebellar malformation	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0002438	HP:0002438	Cerebellar malformation	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0002438	HP:0002438	Cerebellar malformation	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0002438	HP:0002438	Cerebellar malformation	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0002438	HP:0002438	Cerebellar malformation	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0002438	HP:0002438	Cerebellar malformation	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0002438	HP:0002438	Cerebellar malformation	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0002438	HP:0002438	Cerebellar malformation	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002438	HP:0002438	Cerebellar malformation	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0002438	HP:0002438	Cerebellar malformation	0	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence		111
HP:0002438	HP:0002438	Cerebellar malformation	0	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome
HP:0002438	HP:0002438	Cerebellar malformation	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002438	HP:0002438	Cerebellar malformation	0	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0002438	HP:0002438	Cerebellar malformation	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0002438	HP:0002438	Cerebellar malformation	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0002438	HP:0002438	Cerebellar malformation	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0002438	HP:0002438	Cerebellar malformation	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0002438	HP:0002438	Cerebellar malformation	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0002438	HP:0002438	Cerebellar malformation	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0002438	HP:0002438	Cerebellar malformation	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0002438	HP:0002438	Cerebellar malformation	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0002438	HP:0002438	Cerebellar malformation	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0002438	HP:0002438	Cerebellar malformation	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0002438	HP:0002438	Cerebellar malformation	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0002438	HP:0002350	Cerebellar cyst	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002438	HP:0002350	Cerebellar cyst	1	AGTPBP1 CL E G H	23287	17258	ORPHA:2254	Pontocerebellar hypoplasia type 1		1
HP:0002438	HP:0002350	Cerebellar cyst	1	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome		36
HP:0002438	HP:0002350	Cerebellar cyst	1	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome		36
HP:0002438	HP:0002350	Cerebellar cyst	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0002438	HP:0002350	Cerebellar cyst	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0002438	HP:0002350	Cerebellar cyst	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0002438	HP:0002350	Cerebellar cyst	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002438	HP:0002350	Cerebellar cyst	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0002438	HP:0002350	Cerebellar cyst	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002438	HP:0002350	Cerebellar cyst	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0002438	HP:0002350	Cerebellar cyst	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002438	HP:0002350	Cerebellar cyst	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0002438	HP:0002350	Cerebellar cyst	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0002438	HP:0002350	Cerebellar cyst	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0002438	HP:0002350	Cerebellar cyst	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0002438	HP:0002350	Cerebellar cyst	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0002438	HP:0002350	Cerebellar cyst	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0002438	HP:0002350	Cerebellar cyst	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0002438	HP:0002350	Cerebellar cyst	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0002438	HP:0002350	Cerebellar cyst	1	B3GALNT2 CL E G H	148789	28596	OMIM:615181	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11	.	43
HP:0002438	HP:0002350	Cerebellar cyst	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0002438	HP:0002350	Cerebellar cyst	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0002438	HP:0002350	Cerebellar cyst	1	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0002438	HP:0002350	Cerebellar cyst	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0002438	HP:0002350	Cerebellar cyst	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0002438	HP:0002350	Cerebellar cyst	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0002438	HP:0002350	Cerebellar cyst	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0002438	HP:0002350	Cerebellar cyst	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002438	HP:0002308	Chiari malformation	1	BAZ1B CL E G H	9031	961	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002308	Chiari malformation	1	BCL7B CL E G H	9275	1005	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002350	Cerebellar cyst	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002438	HP:0002308	Chiari malformation	1	BICRA CL E G H	29998	4332	OMIM:619325	COFFIN-SIRIS SYNDROME 12; CSS12		2
HP:0002438	HP:0002350	Cerebellar cyst	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0002438	HP:0002350	Cerebellar cyst	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0002438	HP:0002350	Cerebellar cyst	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002438	HP:0002350	Cerebellar cyst	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0002438	HP:0002308	Chiari malformation	1	BUD23 CL E G H	114049	16405	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002350	Cerebellar cyst	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0002438	HP:0002350	Cerebellar cyst	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0002438	HP:0002350	Cerebellar cyst	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0002438	HP:0002350	Cerebellar cyst	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0002438	HP:0002350	Cerebellar cyst	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0002438	HP:0002350	Cerebellar cyst	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0002438	HP:0002308	Chiari malformation	1	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7		9
HP:0002438	HP:0002350	Cerebellar cyst	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0002438	HP:0002350	Cerebellar cyst	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0002438	HP:0002350	Cerebellar cyst	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0002438	HP:0002350	Cerebellar cyst	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002438	HP:0002350	Cerebellar cyst	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0002438	HP:0002308	Chiari malformation	1	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0002438	HP:0002350	Cerebellar cyst	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0002438	HP:0002308	Chiari malformation	1	CLIP2 CL E G H	7461	2586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002350	Cerebellar cyst	1	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0002438	HP:0002350	Cerebellar cyst	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0002438	HP:0002350	Cerebellar cyst	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0002438	HP:0002308	Chiari malformation	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0002438	HP:0002308	Chiari malformation	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0002438	HP:0002350	Cerebellar cyst	1	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional
HP:0002438	HP:0002350	Cerebellar cyst	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0002438	HP:0002350	Cerebellar cyst	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0002438	HP:0002308	Chiari malformation	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002438	HP:0002350	Cerebellar cyst	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002438	HP:0002350	Cerebellar cyst	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0002438	HP:0002350	Cerebellar cyst	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0002438	HP:0002308	Chiari malformation	1	CTSK CL E G H	1513	2536	ORPHA:763	Pycnodysostosis		39
HP:0002438	HP:0002308	Chiari malformation	1	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome		4
HP:0002438	HP:0002308	Chiari malformation	1	DACT1 CL E G H	51339	17748	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	2
HP:0002438	HP:0002350	Cerebellar cyst	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0002438	HP:0002350	Cerebellar cyst	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0002438	HP:0002350	Cerebellar cyst	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0002438	HP:0002350	Cerebellar cyst	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0002438	HP:0002308	Chiari malformation	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002438	HP:0002350	Cerebellar cyst	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002438	HP:0002308	Chiari malformation	1	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0002438	HP:0002308	Chiari malformation	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0002438	HP:0002308	Chiari malformation	1	DNAJC30 CL E G H	84277	16410	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002308	Chiari malformation	1	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0002438	HP:0002308	Chiari malformation	1	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0002438	HP:0002350	Cerebellar cyst	1	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2		18
HP:0002438	HP:0002350	Cerebellar cyst	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0002438	HP:0002350	Cerebellar cyst	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002438	HP:0002308	Chiari malformation	1	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0002438	HP:0002350	Cerebellar cyst	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0002438	HP:0002350	Cerebellar cyst	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0002438	HP:0002350	Cerebellar cyst	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002438	HP:0002350	Cerebellar cyst	1	DYNC2H1 CL E G H	79659	2962	OMIM:613091	Asphyxiating thoracic dystrophy 3	HP:0040283 - Occasional	304
HP:0002438	HP:0002350	Cerebellar cyst	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0002438	HP:0002350	Cerebellar cyst	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002438	HP:0002350	Cerebellar cyst	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002438	HP:0002350	Cerebellar cyst	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0002438	HP:0002350	Cerebellar cyst	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0002438	HP:0002350	Cerebellar cyst	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0002438	HP:0002308	Chiari malformation	1	EIF4H CL E G H	7458	12741	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002308	Chiari malformation	1	ELN CL E G H	2006	3327	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	172
HP:0002438	HP:0002308	Chiari malformation	1	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0002438	HP:0002308	Chiari malformation	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0002438	HP:0002308	Chiari malformation	1	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0002438	HP:0002308	Chiari malformation	1	ERF CL E G H	2077	3444	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	12
HP:0002438	HP:0002350	Cerebellar cyst	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0002438	HP:0002350	Cerebellar cyst	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0002438	HP:0002350	Cerebellar cyst	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0002438	HP:0002350	Cerebellar cyst	1	EXOSC3 CL E G H	51010	17944	ORPHA:2254	Pontocerebellar hypoplasia type 1		38
HP:0002438	HP:0002350	Cerebellar cyst	1	EXOSC3 CL E G H	51010	17944	OMIM:614678	Pontocerebellar hypoplasia, type 1B	.	38
HP:0002438	HP:0002350	Cerebellar cyst	1	EXOSC8 CL E G H	11340	17035	ORPHA:2254	Pontocerebellar hypoplasia type 1		4
HP:0002438	HP:0002350	Cerebellar cyst	1	EXOSC9 CL E G H	5393	9137	ORPHA:2254	Pontocerebellar hypoplasia type 1
HP:0002438	HP:0002308	Chiari malformation	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0002438	HP:0002350	Cerebellar cyst	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0002438	HP:0002350	Cerebellar cyst	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0002438	HP:0002308	Chiari malformation	1	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0002438	HP:0002350	Cerebellar cyst	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0002438	HP:0002308	Chiari malformation	1	FGFR1 CL E G H	2260	3688	OMIM:101600	Pfeiffer syndrome	.	172
HP:0002438	HP:0002308	Chiari malformation	1	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional	175
HP:0002438	HP:0002308	Chiari malformation	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0002438	HP:0002308	Chiari malformation	1	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0002438	HP:0002308	Chiari malformation	1	FGFR2 CL E G H	2263	3689	ORPHA:207	Crouzon disease	HP:0040282 - Frequent	175
HP:0002438	HP:0002308	Chiari malformation	1	FGFR2 CL E G H	2263	3689	OMIM:101600	Pfeiffer syndrome	.	175
HP:0002438	HP:0002308	Chiari malformation	1	FGFR2 CL E G H	2263	3689	ORPHA:93259	Pfeiffer syndrome type 2	HP:0040281 - Very frequent	175
HP:0002438	HP:0002308	Chiari malformation	1	FGFR2 CL E G H	2263	3689	ORPHA:93260	Pfeiffer syndrome type 3	HP:0040281 - Very frequent	175
HP:0002438	HP:0002308	Chiari malformation	1	FGFR3 CL E G H	2261	3690	ORPHA:93262	Crouzon syndrome-acanthosis nigricans syndrome	HP:0040282 - Frequent	145
HP:0002438	HP:0002308	Chiari malformation	1	FKBP6 CL E G H	8468	3722	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002350	Cerebellar cyst	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0002438	HP:0002350	Cerebellar cyst	1	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional	157
HP:0002438	HP:0002350	Cerebellar cyst	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0002438	HP:0002350	Cerebellar cyst	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0002438	HP:0002350	Cerebellar cyst	1	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	.	157
HP:0002438	HP:0002350	Cerebellar cyst	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0002438	HP:0002350	Cerebellar cyst	1	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional	184
HP:0002438	HP:0002350	Cerebellar cyst	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0002438	HP:0002350	Cerebellar cyst	1	FKTN CL E G H	2218	3622	OMIM:253800	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 4	.	184
HP:0002438	HP:0002350	Cerebellar cyst	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0002438	HP:0002308	Chiari malformation	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	493
HP:0002438	HP:0002350	Cerebellar cyst	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0002438	HP:0002308	Chiari malformation	1	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002438	HP:0002350	Cerebellar cyst	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0002438	HP:0002308	Chiari malformation	1	FUZ CL E G H	80199	26219	ORPHA:3027	Caudal regression sequence	HP:0040283 - Occasional	3
HP:0002438	HP:0002350	Cerebellar cyst	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002438	HP:0002350	Cerebellar cyst	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002438	HP:0002350	Cerebellar cyst	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0002438	HP:0002350	Cerebellar cyst	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0002438	HP:0002308	Chiari malformation	1	GNAQ CL E G H	2776	4390	ORPHA:3205	Sturge-Weber syndrome	HP:0040283 - Occasional	7
HP:0002438	HP:0002350	Cerebellar cyst	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0002438	HP:0002350	Cerebellar cyst	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002438	HP:0002350	Cerebellar cyst	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0002438	HP:0002350	Cerebellar cyst	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0002438	HP:0002308	Chiari malformation	1	GTF2I CL E G H	2969	4659	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002438	HP:0002308	Chiari malformation	1	GTF2IRD1 CL E G H	9569	4661	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002438	HP:0002308	Chiari malformation	1	GTF2IRD2 CL E G H	84163	30775	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002438	HP:0002350	Cerebellar cyst	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002438	HP:0002350	Cerebellar cyst	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002438	HP:0002308	Chiari malformation	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002438	HP:0002308	Chiari malformation	1	HMGA2 CL E G H	8091	5009	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0002438	HP:0002308	Chiari malformation	1	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome		113
HP:0002438	HP:0002350	Cerebellar cyst	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0002438	HP:0002350	Cerebellar cyst	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002438	HP:0002350	Cerebellar cyst	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0002438	HP:0002350	Cerebellar cyst	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0002438	HP:0002308	Chiari malformation	1	IL11RA CL E G H	3590	5967	OMIM:614188	Craniosynostosis and dental anomalies		8
HP:0002438	HP:0002308	Chiari malformation	1	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome		283
HP:0002438	HP:0002308	Chiari malformation	1	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation		283
HP:0002438	HP:0002350	Cerebellar cyst	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0002438	HP:0002350	Cerebellar cyst	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0002438	HP:0002350	Cerebellar cyst	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0002438	HP:0002350	Cerebellar cyst	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0002438	HP:0002350	Cerebellar cyst	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0002438	HP:0002308	Chiari malformation	1	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0002438	HP:0002350	Cerebellar cyst	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040281 - Very frequent	35
HP:0002438	HP:0002350	Cerebellar cyst	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0002438	HP:0002350	Cerebellar cyst	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0002438	HP:0002350	Cerebellar cyst	1	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0002438	HP:0002350	Cerebellar cyst	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0002438	HP:0002308	Chiari malformation	1	LEMD3 CL E G H	23592	28887	ORPHA:94063	12q14 microdeletion syndrome	HP:0040283 - Occasional	68
HP:0002438	HP:0002308	Chiari malformation	1	LIMK1 CL E G H	3984	6613	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002350	Cerebellar cyst	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	8
HP:0002438	HP:0002350	Cerebellar cyst	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0002438	HP:0002308	Chiari malformation	1	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome		21
HP:0002438	HP:0002308	Chiari malformation	1	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome		21
HP:0002438	HP:0002308	Chiari malformation	1	MAN2B1 CL E G H	4125	6826	ORPHA:309282	Alpha-mannosidosis, infantile form	HP:0040283 - Occasional	136
HP:0002438	HP:0002308	Chiari malformation	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040283 - Occasional	11
HP:0002438	HP:0002308	Chiari malformation	1	METTL27 CL E G H	155368	19068	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002438	HP:0002350	Cerebellar cyst	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0002438	HP:0002350	Cerebellar cyst	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0002438	HP:0002308	Chiari malformation	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0002438	HP:0002350	Cerebellar cyst	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0002438	HP:0002308	Chiari malformation	1	MLXIPL CL E G H	51085	12744	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	1
HP:0002438	HP:0002308	Chiari malformation	1	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0002438	HP:0002350	Cerebellar cyst	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002438	HP:0002350	Cerebellar cyst	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0002438	HP:0002350	Cerebellar cyst	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0002438	HP:0002308	Chiari malformation	1	NCF1 CL E G H	653361	7660	ORPHA:904	Williams syndrome	HP:0040283 - Occasional	13
HP:0002438	HP:0002308	Chiari malformation	1	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0002438	HP:0002308	Chiari malformation	1	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects		12
HP:0002438	HP:0002308	Chiari malformation	1	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002438	HP:0002308	Chiari malformation	1	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome		10
HP:0002438	HP:0002308	Chiari malformation	1	NOTCH2 CL E G H	4853	7882	ORPHA:955	Hajdu-Cheney syndrome	HP:0040282 - Frequent	138
HP:0002438	HP:0002308	Chiari malformation	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0002438	HP:0002308	Chiari malformation	1	NOTCH3 CL E G H	4854	7883	ORPHA:2789	Lateral meningocele syndrome	HP:0040283 - Occasional	144
HP:0002438	HP:0002308	Chiari malformation	1	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0002438	HP:0002350	Cerebellar cyst	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002438	HP:0002350	Cerebellar cyst	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0002438	HP:0002350	Cerebellar cyst	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0002438	HP:0002350	Cerebellar cyst	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0002438	HP:0002350	Cerebellar cyst	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0002438	HP:0002350	Cerebellar cyst	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0002438	HP:0002350	Cerebellar cyst	1	OFD1 CL E G H	8481	2567	OMIM:311200	Orofaciodigital syndrome I		201
HP:0002438	HP:0002350	Cerebellar cyst	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0002438	HP:0002350	Cerebellar cyst	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0002438	HP:0002350	Cerebellar cyst	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0002438	HP:0002308	Chiari malformation	1	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome		39
HP:0002438	HP:0002350	Cerebellar cyst	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040283 - Occasional	88
HP:0002438	HP:0002308	Chiari malformation	1	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040284 - Very rare	217
HP:0002438	HP:0002350	Cerebellar cyst	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0002438	HP:0002350	Cerebellar cyst	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0002438	HP:0002350	Cerebellar cyst	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0002438	HP:0002308	Chiari malformation	1	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040283 - Occasional	162
HP:0002438	HP:0002350	Cerebellar cyst	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002438	HP:0002350	Cerebellar cyst	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0002438	HP:0002350	Cerebellar cyst	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0002438	HP:0002350	Cerebellar cyst	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0002438	HP:0002350	Cerebellar cyst	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002438	HP:0002308	Chiari malformation	1	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome		138
HP:0002438	HP:0002308	Chiari malformation	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002438	HP:0002308	Chiari malformation	1	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0002438	HP:0002350	Cerebellar cyst	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0002438	HP:0002350	Cerebellar cyst	1	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0002438	HP:0002350	Cerebellar cyst	1	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.	180
HP:0002438	HP:0002350	Cerebellar cyst	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0002438	HP:0002350	Cerebellar cyst	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0002438	HP:0002350	Cerebellar cyst	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0002438	HP:0002350	Cerebellar cyst	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0002438	HP:0002350	Cerebellar cyst	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0002438	HP:0002350	Cerebellar cyst	1	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040283 - Occasional	213
HP:0002438	HP:0002350	Cerebellar cyst	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0002438	HP:0002350	Cerebellar cyst	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0002438	HP:0002350	Cerebellar cyst	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0002438	HP:0002350	Cerebellar cyst	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0002438	HP:0002350	Cerebellar cyst	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.	221
HP:0002438	HP:0002350	Cerebellar cyst	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0002438	HP:0002308	Chiari malformation	1	POR CL E G H	5447	9208	OMIM:201750	Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis	.	76
HP:0002438	HP:0002308	Chiari malformation	1	POR CL E G H	5447	9208	ORPHA:95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	HP:0040284 - Very rare	76
HP:0002438	HP:0002308	Chiari malformation	1	PORCN CL E G H	64840	17652	OMIM:305600	Focal dermal hypoplasia	.	20
HP:0002438	HP:0002308	Chiari malformation	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002438	HP:0002350	Cerebellar cyst	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002438	HP:0002308	Chiari malformation	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0002438	HP:0002308	Chiari malformation	1	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent	665
HP:0002438	HP:0002308	Chiari malformation	1	PTH1R CL E G H	5745	9608	OMIM:600002	Eiken syndrome		58
HP:0002438	HP:0002350	Cerebellar cyst	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0002438	HP:0002308	Chiari malformation	1	RFC2 CL E G H	5982	9970	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002308	Chiari malformation	1	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W
HP:0002438	HP:0002350	Cerebellar cyst	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0002438	HP:0002350	Cerebellar cyst	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0002438	HP:0002350	Cerebellar cyst	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0002438	HP:0002308	Chiari malformation	1	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0002438	HP:0002350	Cerebellar cyst	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0002438	HP:0002308	Chiari malformation	1	SALL1 CL E G H	6299	10524	ORPHA:857	Townes-Brocks syndrome	HP:0040283 - Occasional	124
HP:0002438	HP:0002308	Chiari malformation	1	SC5D CL E G H	6309	10547	ORPHA:46059	Lathosterolosis	HP:0040282 - Frequent	80
HP:0002438	HP:0002308	Chiari malformation	1	SC5D CL E G H	6309	10547	OMIM:607330	LATHOSTEROLOSIS		80
HP:0002438	HP:0002350	Cerebellar cyst	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0002438	HP:0002350	Cerebellar cyst	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040284 - Very rare	66
HP:0002438	HP:0002308	Chiari malformation	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0002438	HP:0002308	Chiari malformation	1	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome	.	60
HP:0002438	HP:0002308	Chiari malformation	1	SF3B2 CL E G H	10992	10769	OMIM:164210	Hemifacial microsomia	.	2
HP:0002438	HP:0002308	Chiari malformation	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0002438	HP:0002308	Chiari malformation	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0002438	HP:0002308	Chiari malformation	1	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome		150
HP:0002438	HP:0002308	Chiari malformation	1	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0002438	HP:0002350	Cerebellar cyst	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0002438	HP:0002350	Cerebellar cyst	1	SLC25A46 CL E G H	91137	25198	ORPHA:2254	Pontocerebellar hypoplasia type 1		14
HP:0002438	HP:0002350	Cerebellar cyst	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0002438	HP:0002308	Chiari malformation	1	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna		5
HP:0002438	HP:0002308	Chiari malformation	1	SMARCA2 CL E G H	6595	11098	OMIM:619293	BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS		146
HP:0002438	HP:0002350	Cerebellar cyst	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0002438	HP:0002350	Cerebellar cyst	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002438	HP:0002350	Cerebellar cyst	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0002438	HP:0002350	Cerebellar cyst	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0002438	HP:0002350	Cerebellar cyst	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002438	HP:0002350	Cerebellar cyst	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0002438	HP:0002350	Cerebellar cyst	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0002438	HP:0002350	Cerebellar cyst	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002438	HP:0002308	Chiari malformation	1	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome		22
HP:0002438	HP:0002308	Chiari malformation	1	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0002438	HP:0002350	Cerebellar cyst	1	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome		14
HP:0002438	HP:0002308	Chiari malformation	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002438	HP:0002350	Cerebellar cyst	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0002438	HP:0002350	Cerebellar cyst	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002438	HP:0002308	Chiari malformation	1	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0002438	HP:0002308	Chiari malformation	1	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0002438	HP:0002308	Chiari malformation	1	STX1A CL E G H	6804	11433	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002308	Chiari malformation	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002438	HP:0002350	Cerebellar cyst	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0002438	HP:0002350	Cerebellar cyst	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0002438	HP:0002308	Chiari malformation	1	TBL1XR1 CL E G H	79718	29529	OMIM:602342	Pierpont syndrome		22
HP:0002438	HP:0002308	Chiari malformation	1	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0002438	HP:0002308	Chiari malformation	1	TBL2 CL E G H	26608	11586	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002350	Cerebellar cyst	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0002438	HP:0002350	Cerebellar cyst	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0002438	HP:0002350	Cerebellar cyst	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0002438	HP:0002308	Chiari malformation	1	TGFBR1 CL E G H	7046	11772	OMIM:609192	Loeys-Dietz syndrome 1		239
HP:0002438	HP:0002308	Chiari malformation	1	TGFBR2 CL E G H	7048	11773	OMIM:610168	Loeys-Dietz syndrome 2		253
HP:0002438	HP:0002350	Cerebellar cyst	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0002438	HP:0002350	Cerebellar cyst	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002438	HP:0002350	Cerebellar cyst	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0002438	HP:0002350	Cerebellar cyst	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0002438	HP:0002350	Cerebellar cyst	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0002438	HP:0002350	Cerebellar cyst	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0002438	HP:0002350	Cerebellar cyst	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0002438	HP:0002350	Cerebellar cyst	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0002438	HP:0002308	Chiari malformation	1	TMEM270 CL E G H	135886	23018	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002350	Cerebellar cyst	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0002438	HP:0002350	Cerebellar cyst	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0002438	HP:0002308	Chiari malformation	1	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0002438	HP:0002350	Cerebellar cyst	1	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0002438	HP:0002308	Chiari malformation	1	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional
HP:0002438	HP:0002308	Chiari malformation	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	HP:0040284 - Very rare
HP:0002438	HP:0002350	Cerebellar cyst	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0002438	HP:0002350	Cerebellar cyst	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040284 - Very rare	3
HP:0002438	HP:0002350	Cerebellar cyst	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040284 - Very rare	84
HP:0002438	HP:0002350	Cerebellar cyst	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040284 - Very rare	57
HP:0002438	HP:0002350	Cerebellar cyst	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040284 - Very rare	102
HP:0002438	HP:0002350	Cerebellar cyst	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0002438	HP:0002350	Cerebellar cyst	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0002438	HP:0002350	Cerebellar cyst	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0002438	HP:0002350	Cerebellar cyst	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002438	HP:0002350	Cerebellar cyst	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0002438	HP:0002308	Chiari malformation	1	VANGL1 CL E G H	81839	15512	ORPHA:3027	Caudal regression sequence	HP:0040283 - Occasional	111
HP:0002438	HP:0002308	Chiari malformation	1	VPS37D CL E G H	155382	18287	ORPHA:904	Williams syndrome	HP:0040283 - Occasional
HP:0002438	HP:0002350	Cerebellar cyst	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002438	HP:0002350	Cerebellar cyst	1	VRK1 CL E G H	7443	12718	ORPHA:2254	Pontocerebellar hypoplasia type 1		32
HP:0002438	HP:0002350	Cerebellar cyst	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0002438	HP:0002350	Cerebellar cyst	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0002438	HP:0002350	Cerebellar cyst	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0002438	HP:0002350	Cerebellar cyst	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0002438	HP:0002350	Cerebellar cyst	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0002438	HP:0002308	Chiari malformation	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0002438	HP:0002308	Chiari malformation	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0002438	HP:0002350	Cerebellar cyst	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0002438	HP:0002350	Cerebellar cyst	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0002438	HP:0002350	Cerebellar cyst	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0002438	HP:0002350	Cerebellar cyst	1	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia		5
HP:0002438	HP:0025660	Chiari type II malformation	2	CL E G H
HP:0002438	HP:0025661	Chiari type III malformation	2	CL E G H
HP:0002438	HP:0001305	Dandy-Walker malformation	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002438	HP:0006951	Retrocerebellar cyst	2	AHDC1 CL E G H	27245	25230	ORPHA:412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	HP:0040283 - Occasional	36
HP:0002438	HP:0006951	Retrocerebellar cyst	2	AHDC1 CL E G H	27245	25230	OMIM:615829	Xia-Gibbs syndrome	HP:0040283 - Occasional	36
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0002438	HP:0001305	Dandy-Walker malformation	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	HP:0040283 - Occasional	13
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent	140
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0002438	HP:0001305	Dandy-Walker malformation	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0002438	HP:0001305	Dandy-Walker malformation	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG	HP:0040281 - Very frequent	85
HP:0002438	HP:0001305	Dandy-Walker malformation	2	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.	85
HP:0002438	HP:0001305	Dandy-Walker malformation	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0002438	HP:0001305	Dandy-Walker malformation	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0002438	HP:0001305	Dandy-Walker malformation	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0002438	HP:0001305	Dandy-Walker malformation	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0002438	HP:0001305	Dandy-Walker malformation	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002438	HP:0001305	Dandy-Walker malformation	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002438	HP:0001305	Dandy-Walker malformation	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	5
HP:0002438	HP:0001305	Dandy-Walker malformation	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	76
HP:0002438	HP:0001305	Dandy-Walker malformation	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0002438	HP:0001305	Dandy-Walker malformation	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0002438	HP:0001305	Dandy-Walker malformation	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0002438	HP:0001305	Dandy-Walker malformation	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	33
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0002438	HP:0007099	Chiari type I malformation	2	CDC45 CL E G H	8318	1739	OMIM:617063	Meier-Gorlin syndrome 7	.	9
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	114
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	17
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0002438	HP:0001305	Dandy-Walker malformation	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional	101
HP:0002438	HP:0007099	Chiari type I malformation	2	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002438	HP:0007099	Chiari type I malformation	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002438	HP:0001305	Dandy-Walker malformation	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0002438	HP:0007099	Chiari type I malformation	2	CWC27 CL E G H	10283	10664	ORPHA:166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	HP:0040283 - Occasional	4
HP:0002438	HP:0001305	Dandy-Walker malformation	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0002438	HP:0001305	Dandy-Walker malformation	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	HP:0040284 - Very rare	6
HP:0002438	HP:0001305	Dandy-Walker malformation	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002438	HP:0007099	Chiari type I malformation	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002438	HP:0007099	Chiari type I malformation	2	DHDDS CL E G H	79947	20603	OMIM:617836	Developmental delay and seizures with or without movement abnormalities		47
HP:0002438	HP:0007099	Chiari type I malformation	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040280 - Obligate
HP:0002438	HP:0007099	Chiari type I malformation	2	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome	.	44
HP:0002438	HP:0006951	Retrocerebellar cyst	2	DOCK6 CL E G H	57572	19189	OMIM:614219	Adams-Oliver syndrome 2	HP:0040283 - Occasional	18
HP:0002438	HP:0001305	Dandy-Walker malformation	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	91
HP:0002438	HP:0001305	Dandy-Walker malformation	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002438	HP:0007099	Chiari type I malformation	2	DPF2 CL E G H	5977	9964	OMIM:618027	Coffin-Siris syndrome 7
HP:0002438	HP:0001305	Dandy-Walker malformation	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0002438	HP:0001305	Dandy-Walker malformation	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	HP:0040283 - Occasional	3
HP:0002438	HP:0001305	Dandy-Walker malformation	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002438	HP:0001305	Dandy-Walker malformation	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0002438	HP:0001305	Dandy-Walker malformation	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002438	HP:0001305	Dandy-Walker malformation	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002438	HP:0001305	Dandy-Walker malformation	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0002438	HP:0001305	Dandy-Walker malformation	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0002438	HP:0001305	Dandy-Walker malformation	2	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0002438	HP:0007099	Chiari type I malformation	2	ELN CL E G H	2006	3327	OMIM:194050	Williams-Beuren syndrome		172
HP:0002438	HP:0007099	Chiari type I malformation	2	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0002438	HP:0007099	Chiari type I malformation	2	ERF CL E G H	2077	3444	OMIM:600775	Craniosynostosis 4		12
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040283 - Occasional	92
HP:0002438	HP:0001305	Dandy-Walker malformation	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0002438	HP:0001305	Dandy-Walker malformation	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0002438	HP:0001305	Dandy-Walker malformation	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional	7
HP:0002438	HP:0001305	Dandy-Walker malformation	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0002438	HP:0001305	Dandy-Walker malformation	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0002438	HP:0007099	Chiari type I malformation	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0002438	HP:0001305	Dandy-Walker malformation	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0002438	HP:0001305	Dandy-Walker malformation	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0002438	HP:0001305	Dandy-Walker malformation	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0002438	HP:0001305	Dandy-Walker malformation	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0002438	HP:0001305	Dandy-Walker malformation	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0002438	HP:0001305	Dandy-Walker malformation	2	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0002438	HP:0001305	Dandy-Walker malformation	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0002438	HP:0001305	Dandy-Walker malformation	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002438	HP:0001305	Dandy-Walker malformation	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002438	HP:0001305	Dandy-Walker malformation	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	270
HP:0002438	HP:0001305	Dandy-Walker malformation	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0002438	HP:0001305	Dandy-Walker malformation	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0002438	HP:0006951	Retrocerebellar cyst	2	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0002438	HP:0006951	Retrocerebellar cyst	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0002438	HP:0001305	Dandy-Walker malformation	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002438	HP:0001305	Dandy-Walker malformation	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional
HP:0002438	HP:0007099	Chiari type I malformation	2	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002438	HP:0007099	Chiari type I malformation	2	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0002438	HP:0001305	Dandy-Walker malformation	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	113
HP:0002438	HP:0001305	Dandy-Walker malformation	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0002438	HP:0001305	Dandy-Walker malformation	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0002438	HP:0001305	Dandy-Walker malformation	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	9
HP:0002438	HP:0007099	Chiari type I malformation	2	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040283 - Occasional	283
HP:0002438	HP:0007099	Chiari type I malformation	2	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040283 - Occasional	283
HP:0002438	HP:0001305	Dandy-Walker malformation	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	730
HP:0002438	HP:0001305	Dandy-Walker malformation	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	1
HP:0002438	HP:0001305	Dandy-Walker malformation	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002438	HP:0001305	Dandy-Walker malformation	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	167
HP:0002438	HP:0001305	Dandy-Walker malformation	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	196
HP:0002438	HP:0007099	Chiari type I malformation	2	KRAS CL E G H	3845	6407	OMIM:609942	Noonan syndrome 3		196
HP:0002438	HP:0001305	Dandy-Walker malformation	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0002438	HP:0001305	Dandy-Walker malformation	2	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	HP:0040282 - Frequent	136
HP:0002438	HP:0001305	Dandy-Walker malformation	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0002438	HP:0001305	Dandy-Walker malformation	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0002438	HP:0007099	Chiari type I malformation	2	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0002438	HP:0007099	Chiari type I malformation	2	MAF CL E G H	4094	6776	OMIM:601088	Ayme-Gripp syndrome	HP:0040283 - Occasional	21
HP:0002438	HP:0001305	Dandy-Walker malformation	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0002438	HP:0001305	Dandy-Walker malformation	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0002438	HP:0001305	Dandy-Walker malformation	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0002438	HP:0007099	Chiari type I malformation	2	MLXIPL CL E G H	51085	12744	OMIM:194050	Williams-Beuren syndrome		1
HP:0002438	HP:0001305	Dandy-Walker malformation	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002438	HP:0001305	Dandy-Walker malformation	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	72
HP:0002438	HP:0001305	Dandy-Walker malformation	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0002438	HP:0007099	Chiari type I malformation	2	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0002438	HP:0007099	Chiari type I malformation	2	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0002438	HP:0007099	Chiari type I malformation	2	NFKB2 CL E G H	4791	7795	OMIM:615577	Immunodeficiency, common variable, 10		11
HP:0002438	HP:0007099	Chiari type I malformation	2	NONO CL E G H	4841	7871	ORPHA:466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	HP:0040283 - Occasional	10
HP:0002438	HP:0007099	Chiari type I malformation	2	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0002438	HP:0007099	Chiari type I malformation	2	NOVA2 CL E G H	4858	7887	OMIM:618859	Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities
HP:0002438	HP:0001305	Dandy-Walker malformation	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002438	HP:0001305	Dandy-Walker malformation	2	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040281 - Very frequent	157
HP:0002438	HP:0001305	Dandy-Walker malformation	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	HP:0040283 - Occasional	157
HP:0002438	HP:0001305	Dandy-Walker malformation	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	102
HP:0002438	HP:0001305	Dandy-Walker malformation	2	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0002438	HP:0001305	Dandy-Walker malformation	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0002438	HP:0001305	Dandy-Walker malformation	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0002438	HP:0006951	Retrocerebellar cyst	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0002438	HP:0006951	Retrocerebellar cyst	2	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0002438	HP:0007099	Chiari type I malformation	2	PAX2 CL E G H	5076	8616	OMIM:120330	Papillorenal syndrome	.	39
HP:0002438	HP:0001305	Dandy-Walker malformation	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0002438	HP:0001305	Dandy-Walker malformation	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0002438	HP:0001305	Dandy-Walker malformation	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0002438	HP:0001305	Dandy-Walker malformation	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002438	HP:0001305	Dandy-Walker malformation	2	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional	11
HP:0002438	HP:0001305	Dandy-Walker malformation	2	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0002438	HP:0001305	Dandy-Walker malformation	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0002438	HP:0001305	Dandy-Walker malformation	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002438	HP:0007099	Chiari type I malformation	2	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040283 - Occasional	138
HP:0002438	HP:0007099	Chiari type I malformation	2	POLR3B CL E G H	55703	30348	OMIM:619742	CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1I; CMT1I		67
HP:0002438	HP:0001305	Dandy-Walker malformation	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0002438	HP:0001305	Dandy-Walker malformation	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0002438	HP:0001305	Dandy-Walker malformation	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0002438	HP:0001305	Dandy-Walker malformation	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0002438	HP:0001305	Dandy-Walker malformation	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0002438	HP:0001305	Dandy-Walker malformation	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0002438	HP:0001305	Dandy-Walker malformation	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0002438	HP:0001305	Dandy-Walker malformation	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002438	HP:0007099	Chiari type I malformation	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002438	HP:0001305	Dandy-Walker malformation	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	73
HP:0002438	HP:0001305	Dandy-Walker malformation	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0002438	HP:0001305	Dandy-Walker malformation	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0002438	HP:0001305	Dandy-Walker malformation	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0002438	HP:0001305	Dandy-Walker malformation	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0002438	HP:0007099	Chiari type I malformation	2	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0002438	HP:0007099	Chiari type I malformation	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002438	HP:0007099	Chiari type I malformation	2	SKI CL E G H	6497	10896	OMIM:182212	Shprintzen-Goldberg craniosynostosis syndrome	.	150
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	2
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0002438	HP:0007099	Chiari type I malformation	2	SLC39A14 CL E G H	23516	20858	OMIM:144755	Hyperostosis cranialis interna	HP:0040284 - Very rare	5
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002438	HP:0007099	Chiari type I malformation	2	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	HP:0040283 - Occasional	22
HP:0002438	HP:0007099	Chiari type I malformation	2	SMO CL E G H	6608	11119	OMIM:241800	Hypothalamic hamartomascongenital hypothalamic hamartoma syndrome, included		22
HP:0002438	HP:0006951	Retrocerebellar cyst	2	SNX14 CL E G H	57231	14977	ORPHA:397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	HP:0040283 - Occasional	14
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0002438	HP:0001305	Dandy-Walker malformation	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002438	HP:0007099	Chiari type I malformation	2	SPRED1 CL E G H	161742	20249	ORPHA:137605	Legius syndrome		136
HP:0002438	HP:0007099	Chiari type I malformation	2	STAG1 CL E G H	10274	11354	OMIM:617635	Mental retardation, autosomal dominant 47		9
HP:0002438	HP:0007099	Chiari type I malformation	2	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	HP:0040283 - Occasional	271
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	HP:0040283 - Occasional	45
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0002438	HP:0007099	Chiari type I malformation	2	TMEM94 CL E G H	9772	28983	OMIM:618316	Intellectual developmental disorder with cardiac defects and dysmorphic facies		1
HP:0002438	HP:0006951	Retrocerebellar cyst	2	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8		5
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	2
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	106
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	HP:0040283 - Occasional	14
HP:0002438	HP:0001305	Dandy-Walker malformation	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0002438	HP:0001305	Dandy-Walker malformation	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002438	HP:0001305	Dandy-Walker malformation	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040282 - Frequent	27
HP:0002438	HP:0001305	Dandy-Walker malformation	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002438	HP:0001305	Dandy-Walker malformation	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	83
HP:0002438	HP:0001305	Dandy-Walker malformation	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0002438	HP:0001305	Dandy-Walker malformation	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0002438	HP:0001305	Dandy-Walker malformation	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	HP:0040283 - Occasional	14
HP:0002438	HP:0001305	Dandy-Walker malformation	2	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.	27
HP:0002438	HP:0007099	Chiari type I malformation	2	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0002438	HP:0007099	Chiari type I malformation	2	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional	5
HP:0002438	HP:0001305	Dandy-Walker malformation	2	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0002438	HP:0006951	Retrocerebellar cyst	2	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0002438	HP:0006951	Retrocerebellar cyst	2	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040283 - Occasional	5