Human Phenotype Ontology

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

Grandparent Node:
Cerebellar malformation (HP:0002438)

Parent Node:
Abnormal cerebellar vermis morphology (HP:0002334)

..Starting node
..Aplasia/Hypoplasia of the cerebellar vermis (HP:0006817)

Term ID:

6817

Name:

Aplasia/Hypoplasia of the cerebellar vermis

Synonym:

Cerebellar vermis aplasia or hypoplasia; Cerebellar vermis aplasia/hypoplasia; Hypo/aplastic vermis

Definition:

Absence or underdevelopment of the vermis of cerebellum.

Comments:

Reference:

HP:0006817

Genes and Diseases:

Child Nodes:

........

Cerebellar vermis hypoplasia (HP:0001320)

................... HP:0001305 Dandy-Walker malformation
................... HP:0007068 Inferior vermis hypoplasia

........

Agenesis of cerebellar vermis (HP:0002335)

........

Partial absence of cerebellar vermis (HP:0002951)

........

Aplasia of the inferior half of the cerebellar vermis (HP:0007063)

Sister Nodes:

Cerebellar vermis atrophy (HP:0006855)

Disorganization of the anterior cerebellar vermis (HP:0007065)

Dysgenesis of the cerebellar vermis (HP:0002195)

Dysmorphic inferior cerebellar vermis (HP:0012460)

Loss of Purkinje cells in the cerebellar vermis (HP:0007001)

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:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ACY1 CL E G H	95	177	ORPHA:137754	Neurological conditions associated with aminoacylase 1 deficiency	HP:0040283 - Occasional	13
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria		88
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria		88
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome		175
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect		175
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	AIPL1 CL E G H	23746	359	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	114
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome		132
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome		62
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome		49
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies		16
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia		19
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1		168
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome		28
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome		34
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies		38
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect		247
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect		247
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome		5
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome		7
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect		7
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15		34
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect		342
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP290 CL E G H	80184	29021	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	342
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome		90
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect		90
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form		101
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CRB1 CL E G H	23418	2343	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	156
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CRX CL E G H	1406	2383	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	158
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome		57
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency		9
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy		108
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9		108
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome		27
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome		40
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome		114
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		157
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3		63
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GDF6 CL E G H	392255	4221	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	64
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		34
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations		30
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	GUCY2D CL E G H	3000	4689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	124
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome		31
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	IFT140 CL E G H	9742	29077	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	148
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly		48
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	IMPDH1 CL E G H	3614	6052	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	52
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome		111
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect		111
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect		111
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	IQCB1 CL E G H	9657	28949	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	61
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KCNJ13 CL E G H	3769	6259	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	42
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome		24
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly		24
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6		4
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6		167
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked		134
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome		35
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		136
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	LCA5 CL E G H	167691	31923	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	70
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	LRAT CL E G H	9227	6685	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	62
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome		132
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome		127
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect		127
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital		97
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria		150
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NMNAT1 CL E G H	64802	17877	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	15
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4		85
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect		85
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NUP37 CL E G H	79023	29929	OMIM:618179	Microcephaly 24, primary, autosomal recessive
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6		201
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome		24
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation		231
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PCYT1A CL E G H	5130	8754	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	11
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PGAP1 CL E G H	80055	25712	ORPHA:401820	Autosomal recessive spastic paraplegia type 67	HP:0040282 - Frequent	20
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria		11
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome		4
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		213
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability		221
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities		42
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency		27
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria		948
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome		85
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome		90
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:401830	Autosomal recessive spastic paraplegia type 69	HP:0040282 - Frequent	135
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome		135
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome		16
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RD3 CL E G H	343035	19689	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	95
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RDH12 CL E G H	145226	19977	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	45
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome		16
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RPE65 CL E G H	6121	10294	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	129
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II		129
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RPGRIP1 CL E G H	57096	13436	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	109
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect		167
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect		167
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay		309
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2		66
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly		36
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SPATA7 CL E G H	55812	20423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	48
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ		80
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria		50
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome		124
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome		15
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome		45
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TCTN1 CL E G H	79600	26113	OMIM:614173	Joubert syndrome 13		45
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome		76
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6		31
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome		12
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia		6
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect		39
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect		45
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6		45
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect		33
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome		82
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect		82
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect		82
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1		166
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome		166
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect		166
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6		61
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2		3
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2		84
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2		57
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C		57
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2		102
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3		106
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TUBB4B CL E G H	10383	20771	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TULP1 CL E G H	7287	12423	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent	66
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	USP45 CL E G H	85015	20080	ORPHA:65	Leber congenital amaurosis	HP:0040282 - Frequent
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2		27
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect		49
HP:0006817	HP:0006817	Aplasia/Hypoplasia of the cerebellar vermis	0	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14		49
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent	88
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ADGRG1 CL E G H	9289	4512	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	88
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	AHI1 CL E G H	54806	21575	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	175
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	AHI1 CL E G H	54806	21575	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	175
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2		132
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ALX4 CL E G H	60529	450	OMIM:613451	Frontonasal dysplasia 2	.	132
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	ALX4 CL E G H	60529	450	ORPHA:228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	HP:0040282 - Frequent	132
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ARHGEF2 CL E G H	9181	682	OMIM:617523	Neurodevelopmental disorder with midbrain and hindbrain malformations		1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ARL13B CL E G H	200894	25419	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	62
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ARL3 CL E G H	403	694	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ARL3 CL E G H	403	694	OMIM:618161	JOUBERT SYNDROME 35; JBTS35		1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ARMC9 CL E G H	80210	20730	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ASXL3 CL E G H	80816	29357	ORPHA:352577	Bainbridge-Ropers syndrome	HP:0040283 - Occasional	49
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ATN1 CL E G H	1822	3033	OMIM:618494	Congenital hypotonia, epilepsy, developmental delay, and digital anomalies	.	16
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ATP2B3 CL E G H	492	816	ORPHA:314978	X-linked non progressive cerebellar ataxia	HP:0040282 - Frequent	19
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent	140
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ATR CL E G H	545	882	OMIM:210600	Seckel syndrome 1	.	168
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	B9D1 CL E G H	27077	24123	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	28
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	B9D2 CL E G H	80776	28636	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	34
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies		38
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CBY1 CL E G H	25776	1307	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CC2D2A CL E G H	57545	29253	OMIM:619111	COACH SYNDROME 2; COACH2		247
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CC2D2A CL E G H	57545	29253	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	247
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CC2D2A CL E G H	57545	29253	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	247
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CCDC32 CL E G H	90416	28295	OMIM:619123	CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS		1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CENPF CL E G H	1063	1857	OMIM:243605	Stromme syndrome		27
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CEP104 CL E G H	9731	24866	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	5
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CEP120 CL E G H	153241	26690	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	7
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CEP120 CL E G H	153241	26690	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	7
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CEP164 CL E G H	22897	29182	OMIM:614845	Nephronophthisis 15	HP:0040283 - Occasional	34
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	CEP290 CL E G H	80184	29021	OMIM:610188	Joubert syndrome 5	.	342
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CEP290 CL E G H	80184	29021	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	342
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CEP41 CL E G H	95681	12370	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	90
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CEP41 CL E G H	95681	12370	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	90
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CPLANE1 CL E G H	65250	25801	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CPLANE1 CL E G H	65250	25801	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI	.
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CPSF3 CL E G H	51692	2326	OMIM:619876
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CSPP1 CL E G H	79848	26193	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	57
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CWF19L1 CL E G H	55280	25613	ORPHA:453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	HP:0040282 - Frequent	9
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	CWF19L1 CL E G H	55280	25613	OMIM:616127	Spinocerebellar ataxia, autosomal recessive 17		9
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	HP:0040283 - Occasional	3
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DYNC1H1 CL E G H	1778	2961	OMIM:614563	Mental retardation, autosomal dominant 13		427
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	EBF3 CL E G H	253738	19087	OMIM:617330	HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS		25
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	EPG5 CL E G H	57724	29331	OMIM:242840	Vici syndrome	.	40
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C	.	4
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FAM149B1 CL E G H	317662	29162	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FDXR CL E G H	2232	3642	ORPHA:543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	HP:0040283 - Occasional
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FIG4 CL E G H	9896	16873	OMIM:216340	Yunis-Varon syndrome		111
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	HP:0040283 - Occasional	63
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FOXC1 CL E G H	2296	3800	OMIM:602482	Axenfeld-rieger syndrome, type 3	.	63
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FRMD4A CL E G H	55691	25491	OMIM:616819	Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia		1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FRMD4A CL E G H	55691	25491	ORPHA:466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	HP:0040282 - Frequent	1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GOT2 CL E G H	2806	4433	OMIM:618721	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GPC3 CL E G H	2719	4451	OMIM:312870	Simpson-golabi-behmel syndrome, type 1		73
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GPC4 CL E G H	2239	4452	OMIM:312870	Simpson-golabi-behmel syndrome, type 1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GRIA3 CL E G H	2892	4573	ORPHA:364028	X-linked intellectual disability due to GRIA3 mutations	HP:0040283 - Occasional	30
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	HHAT CL E G H	55733	18270	OMIM:600092	Nivelon-Nivelon-Mabille syndrome
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	HYLS1 CL E G H	219844	26558	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	31
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional	48
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	INPP5E CL E G H	56623	21474	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	111
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	INPP5E CL E G H	56623	21474	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	111
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	INPP5E CL E G H	56623	21474	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	111
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ITPR1 CL E G H	3708	6180	OMIM:117360	Spinocerebellar ataxia 29		177
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	KATNIP CL E G H	23247	29068	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	KATNIP CL E G H	23247	29068	OMIM:616784	JOUBERT SYNDROME 26; JBTS26
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	KIAA0586 CL E G H	9786	19960	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	24
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	KIAA0586 CL E G H	9786	19960	OMIM:616546	Short-Rib thoracic dysplasia 14 with polydactyly	.	24
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	KIAA0753 CL E G H	9851	29110	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	4
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	KIF7 CL E G H	374654	30497	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	167
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked		134
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	LAMB1 CL E G H	3912	6486	OMIM:615191	Lissencephaly 5		71
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	LETM1 CL E G H	3954	6556	OMIM:620089			2
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MACF1 CL E G H	23499	13664	OMIM:618325	Lissencephaly 9 with complex brainstem malformation		2
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040283 - Occasional	132
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MID1 CL E G H	4281	7095	OMIM:300000	Opitz gbbb syndrome, type I		57
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MKS1 CL E G H	54903	7121	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	127
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MKS1 CL E G H	54903	7121	ORPHA:220493	Joubert syndrome with ocular defect	HP:0040281 - Very frequent	127
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MPL CL E G H	4352	7217	OMIM:604498	Amegakaryocytic thrombocytopenia, congenital	.	97
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	MVK CL E G H	4598	7530	OMIM:610377	Mevalonic aciduria	.	150
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NPHP1 CL E G H	4867	7905	OMIM:609583	Joubert syndrome 4	.	85
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NPHP1 CL E G H	4867	7905	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	85
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NSRP1 CL E G H	84081	25305	OMIM:620001
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NUP37 CL E G H	79023	29929	OMIM:618179	Microcephaly 24, primary, autosomal recessive	.
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10	.	201
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	OFD1 CL E G H	8481	2567	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	201
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0006817	HP:0002951	Partial absence of cerebellar vermis	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent	55
HP:0006817	HP:0002951	Partial absence of cerebellar vermis	1	PACS1 CL E G H	55690	30032	ORPHA:329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	HP:0040283 - Occasional	24
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040284 - Very rare	231
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PCGF2 CL E G H	7703	12929	OMIM:618371	Turnpenny-Fry syndrome	.
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	PDE6D CL E G H	5147	8788	OMIM:615665	Joubert syndrome 22		1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PDE6D CL E G H	5147	8788	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PI4KA CL E G H	5297	8983	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	11
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PIBF1 CL E G H	10464	23352	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	4
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0006817	HP:0002951	Partial absence of cerebellar vermis	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0006817	HP:0002951	Partial absence of cerebellar vermis	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0006817	HP:0002951	Partial absence of cerebellar vermis	1	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2		221
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PRDM13 CL E G H	59336	13998	OMIM:619909			2
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PRKDC CL E G H	5591	9413	OMIM:615966	Immunodeficiency 26 with or without neurologic abnormalities	HP:0040283 - Occasional	42
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PSAT1 CL E G H	29968	19129	OMIM:610992	Phosphoserine aminotransferase deficiency	.	27
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040282 - Frequent	948
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	PTF1A CL E G H	256297	23734	OMIM:609069	Pancreatic and cerebellar agenesis		22
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RAB11B CL E G H	9230	9761	OMIM:617807	Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter	.
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RAB18 CL E G H	22931	14244	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	85
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RAB3GAP1 CL E G H	22930	17063	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	90
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RAB3GAP2 CL E G H	25782	17168	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	135
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RARS2 CL E G H	57038	21406	OMIM:611523	Pontocerebellar hypoplasia, type 6		93
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RBM10 CL E G H	8241	9896	OMIM:311900	Tarp syndrome	.	16
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RBM8A CL E G H	9939	9905	OMIM:274000	Thrombocytopenia-absent radius syndrome		10
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I	.	15
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RPE65 CL E G H	6121	10294	OMIM:204100	Leber congenital amaurosis, type II	.	129
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	167
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	167
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SACS CL E G H	26278	10519	ORPHA:98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	HP:0040282 - Frequent	309
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SEMA6B CL E G H	10501	10739	OMIM:618876	EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	66
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040281 - Very frequent	36
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SLC25A24 CL E G H	29957	20662	OMIM:612289	Fontaine progeroid syndrome	.
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SRD5A3 CL E G H	79644	25812	OMIM:612379	Congenital disorder of glycosylation, type IQ	.	80
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SRPX2 CL E G H	27286	30668	ORPHA:98889	Bilateral perisylvian polymicrogyria	HP:0040283 - Occasional	50
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SUFU CL E G H	51684	16466	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	124
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	SYT2 CL E G H	127833	11510	OMIM:619461	MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B		4
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TBC1D20 CL E G H	128637	16133	ORPHA:2510	Micro syndrome	HP:0040283 - Occasional	15
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TCTN1 CL E G H	79600	26113	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	45
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TCTN1 CL E G H	79600	26113	OMIM:614173	Joubert syndrome 13		45
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TCTN2 CL E G H	79867	25774	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	76
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	TCTN3 CL E G H	26123	24519	OMIM:614815	Joubert syndrome 18		31
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TCTN3 CL E G H	26123	24519	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	31
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	TFAP2A CL E G H	7020	11742	OMIM:113620	Branchiooculofacial syndrome	.	12
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	THG1L CL E G H	54974	26053	OMIM:618800	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent	6
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM138 CL E G H	51524	26944	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	39
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM216 CL E G H	51259	25018	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	45
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM216 CL E G H	51259	25018	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	45
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM218 CL E G H	219854	27344	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM218 CL E G H	219854	27344	OMIM:619562	JOUBERT SYNDROME 39; JBTS39
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM231 CL E G H	79583	37234	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	33
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM237 CL E G H	65062	14432	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	82
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM237 CL E G H	65062	14432	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	82
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM237 CL E G H	65062	14432	ORPHA:220497	Joubert syndrome with renal defect	HP:0040281 - Very frequent	82
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM67 CL E G H	91147	28396	OMIM:216360	Coach syndrome 1	.	166
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM67 CL E G H	91147	28396	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent	166
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM67 CL E G H	91147	28396	ORPHA:1454	Joubert syndrome with hepatic defect	HP:0040281 - Very frequent	166
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TOGARAM1 CL E G H	23116	19959	ORPHA:475	Joubert syndrome	HP:0040281 - Very frequent
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TOGARAM1 CL E G H	23116	19959	OMIM:619185	JOUBERT SYNDROME 37; JBTS37
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TOPORS CL E G H	10210	21653	ORPHA:2754	Orofaciodigital syndrome type 6	HP:0040283 - Occasional	61
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism	.	2
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	3
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	84
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B		84
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	57
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TSEN34 CL E G H	79042	15506	OMIM:612390	PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C		57
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040281 - Very frequent	102
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	HP:0040283 - Occasional	27
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	VPS35L CL E G H	57020	24641	OMIM:619135	RITSCHER-SCHINZEL SYNDROME 3; RTSC3
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	VPS4A CL E G H	27183	13488	OMIM:619273	CIMDAG SYNDROME; CIMDAG		1
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0006817	HP:0007063	Aplasia of the inferior half of the cerebellar vermis	1	WDR81 CL E G H	124997	26600	OMIM:610185	Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2	.	27
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040284 - Very rare	362
HP:0006817	HP:0002335	Agenesis of cerebellar vermis	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040284 - Very rare	362
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ZNF423 CL E G H	23090	16762	ORPHA:2318	Joubert syndrome with oculorenal defect	HP:0040281 - Very frequent	49
HP:0006817	HP:0001320	Cerebellar vermis hypoplasia	1	ZNF423 CL E G H	23090	16762	OMIM:614844	Nephronophthisis 14	.	49
HP:0006817	HP:0001305	Dandy-Walker malformation	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0006817	HP:0001305	Dandy-Walker malformation	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0006817	HP:0001305	Dandy-Walker malformation	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	HP:0040283 - Occasional	13
HP:0006817	HP:0001305	Dandy-Walker malformation	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0006817	HP:0001305	Dandy-Walker malformation	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0006817	HP:0001305	Dandy-Walker malformation	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0006817	HP:0001305	Dandy-Walker malformation	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0006817	HP:0001305	Dandy-Walker malformation	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0006817	HP:0001305	Dandy-Walker malformation	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0006817	HP:0001305	Dandy-Walker malformation	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0006817	HP:0001305	Dandy-Walker malformation	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0006817	HP:0001305	Dandy-Walker malformation	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent	140
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0006817	HP:0001305	Dandy-Walker malformation	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG	HP:0040281 - Very frequent	85
HP:0006817	HP:0001305	Dandy-Walker malformation	2	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.	85
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0006817	HP:0001305	Dandy-Walker malformation	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0006817	HP:0001305	Dandy-Walker malformation	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0006817	HP:0001305	Dandy-Walker malformation	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0006817	HP:0001305	Dandy-Walker malformation	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	BMP4 CL E G H	652	1071	ORPHA:139471	Microphthalmia with brain and digit anomalies	HP:0040283 - Occasional	38
HP:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040283 - Occasional	7
HP:0006817	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:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0006817	HP:0001305	Dandy-Walker malformation	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0006817	HP:0001305	Dandy-Walker malformation	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0006817	HP:0001305	Dandy-Walker malformation	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0006817	HP:0001305	Dandy-Walker malformation	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0006817	HP:0001305	Dandy-Walker malformation	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	33
HP:0006817	HP:0001305	Dandy-Walker malformation	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	114
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0006817	HP:0001305	Dandy-Walker malformation	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0006817	HP:0001305	Dandy-Walker malformation	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0006817	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:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0006817	HP:0001305	Dandy-Walker malformation	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0006817	HP:0001305	Dandy-Walker malformation	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0006817	HP:0001305	Dandy-Walker malformation	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	91
HP:0006817	HP:0001305	Dandy-Walker malformation	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0006817	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:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0006817	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:0006817	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:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0006817	HP:0001305	Dandy-Walker malformation	2	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0006817	HP:0001305	Dandy-Walker malformation	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0006817	HP:0001305	Dandy-Walker malformation	2	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040283 - Occasional	92
HP:0006817	HP:0001305	Dandy-Walker malformation	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0006817	HP:0001305	Dandy-Walker malformation	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0006817	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:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0006817	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:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0006817	HP:0001305	Dandy-Walker malformation	2	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0006817	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:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	GEMIN4 CL E G H	50628	15717	OMIM:617913	Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities		1
HP:0006817	HP:0001305	Dandy-Walker malformation	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0006817	HP:0001305	Dandy-Walker malformation	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0006817	HP:0001305	Dandy-Walker malformation	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	270
HP:0006817	HP:0001305	Dandy-Walker malformation	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0006817	HP:0001305	Dandy-Walker malformation	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0006817	HP:0001305	Dandy-Walker malformation	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0006817	HP:0001305	Dandy-Walker malformation	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional
HP:0006817	HP:0001305	Dandy-Walker malformation	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	113
HP:0006817	HP:0001305	Dandy-Walker malformation	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	9
HP:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	INTS1 CL E G H	26173	24555	OMIM:618571	NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF
HP:0006817	HP:0001305	Dandy-Walker malformation	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	730
HP:0006817	HP:0001305	Dandy-Walker malformation	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	1
HP:0006817	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:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	KIAA0753 CL E G H	9851	29110	OMIM:619476	JOUBERT SYNDROME 38; JBTS38		4
HP:0006817	HP:0001305	Dandy-Walker malformation	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	167
HP:0006817	HP:0001305	Dandy-Walker malformation	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	196
HP:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	L1CAM CL E G H	3897	6470	OMIM:304100	Corpus callosum, partial agenesis of, X-linked	.	134
HP:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040282 - Frequent	35
HP:0006817	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:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0006817	HP:0001305	Dandy-Walker malformation	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	MDH1 CL E G H	4190	6970	OMIM:618959	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88
HP:0006817	HP:0001305	Dandy-Walker malformation	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0006817	HP:0001305	Dandy-Walker malformation	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0006817	HP:0001305	Dandy-Walker malformation	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0006817	HP:0001305	Dandy-Walker malformation	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0006817	HP:0001305	Dandy-Walker malformation	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	72
HP:0006817	HP:0001305	Dandy-Walker malformation	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0006817	HP:0001305	Dandy-Walker malformation	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	HP:0040283 - Occasional	157
HP:0006817	HP:0001305	Dandy-Walker malformation	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	102
HP:0006817	HP:0001305	Dandy-Walker malformation	2	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0006817	HP:0001305	Dandy-Walker malformation	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0006817	HP:0001305	Dandy-Walker malformation	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0006817	HP:0001305	Dandy-Walker malformation	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0006817	HP:0001305	Dandy-Walker malformation	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0006817	HP:0001305	Dandy-Walker malformation	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0006817	HP:0001305	Dandy-Walker malformation	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0006817	HP:0001305	Dandy-Walker malformation	2	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional	11
HP:0006817	HP:0001305	Dandy-Walker malformation	2	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0006817	HP:0001305	Dandy-Walker malformation	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0006817	HP:0001305	Dandy-Walker malformation	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0006817	HP:0001305	Dandy-Walker malformation	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0006817	HP:0001305	Dandy-Walker malformation	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0006817	HP:0001305	Dandy-Walker malformation	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	73
HP:0006817	HP:0001305	Dandy-Walker malformation	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0006817	HP:0001305	Dandy-Walker malformation	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0006817	HP:0001305	Dandy-Walker malformation	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0006817	HP:0001305	Dandy-Walker malformation	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	2
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0006817	HP:0001305	Dandy-Walker malformation	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	HP:0040283 - Occasional	271
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	HP:0040283 - Occasional	45
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0006817	HP:0001305	Dandy-Walker malformation	2	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0006817	HP:0007068	Inferior cerebellar vermis hypoplasia	2	TRAPPC9 CL E G H	83696	30832	OMIM:613192	Mental retardation, autosomal recessive 13		158
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	106
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0006817	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:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0006817	HP:0001305	Dandy-Walker malformation	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	83
HP:0006817	HP:0001305	Dandy-Walker malformation	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0006817	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:0006817	HP:0001305	Dandy-Walker malformation	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	HP:0040283 - Occasional	14
HP:0006817	HP:0001305	Dandy-Walker malformation	2	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.	27
HP:0006817	HP:0001305	Dandy-Walker malformation	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional	5
HP:0006817	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

Genes (285) :ACY1 ADGRG1 AFF3 AHI1 AIPL1 ALG3 ALX4 AP1S2 APC2 ARHGEF2 ARID1A ARID1B ARID2 ARL13B ARL3 ARMC9 ASXL1 ASXL3 ATN1 ATP2B3 ATP6V0A2 ATP6V1A ATP6V1B2 ATP6V1E1 ATR B3GALNT2 B4GALT1 B4GAT1 B9D1 B9D2 BCOR BMP4 BRF1 BUB1 BUB1B BUB3 C2CD3 CBY1 CC2D2A CCDC22 CCDC32 CDC42 CDC42BPB CDKN1C CENPF CEP104 CEP120 CEP164 CEP290 CEP41 CEP57 CHD7 COG1 COL4A1 CPLANE1 CPSF3 CPT2 CRB1 CRPPA CRX CSF1R CSPP1 CWF19L1 DAG1 DCHS1 DENND5A DHCR7 DOK7 DPF2 DPH1 DPH5 DPYSL5 DYNC1H1 DYNC2H1 DYNC2I1 DYNC2I2 EBF3 EBP EPG5 ESCO2 EVC EVC2 EXOC2 EXOSC8 FAM149B1 FAR1 FAT4 FDXR FGFR1 FIG4 FKRP FKTN FLVCR2 FOXC1 FRMD4A FTO GDF6 GEMIN4 GJB2 GJB6 GLI3 GMPPB GOT2 GPC3 GPC4 GRIA3 GRM1 GTPBP2 GUCY2D H19-ICR H3-3A HHAT HNRNPH1 HNRNPR HRAS HYLS1 IFT140 IFT172 IFT80 IGF2 IMPDH1 INPP5E INTS1 IQCB1 ITPR1 KATNIP KCNJ13 KCNQ1 KCNQ1OT1 KIAA0586 KIAA0753 KIF7 KRAS L1CAM LAMA1 LAMB1 LARGE1 LCA5 LETM1 LRAT LRRC32 MAB21L1 MACF1 MAN2C1 MAPKAPK5 MBD5 MDH1 MEF2C MID1 MKS1 MPL MRE11 MTM1 MUSK MVK MYOD1 NCAPG2 NEK1 NMNAT1 NPHP1 NPHP3 NRAS NSD1 NSRP1 NUP37 NUP88 OFD1 OPHN1 PACS1 PAFAH1B1 PCGF2 PCYT1A PDE6D PGAP1 PHGDH PI4KA PIBF1 PIEZO2 PIGN PIGU PLCH1 PLG PMM2 POLR3A POMGNT1 POMGNT2 POMK POMT1 POMT2 PPFIBP1 PPP1CB PPP1R21 PRDM13 PRKDC PSAT1 PTEN PTF1A RAB11B RAB18 RAB3GAP1 RAB3GAP2 RAC1 RAPSN RARS2 RBM10 RBM8A RD3 RDH12 RERE RNF113A RNU4ATAC RPE65 RPGRIP1 RPGRIP1L RXYLT1 SACS SEMA3E SEMA6B SEPSECS SETD2 SLC18A3 SLC25A19 SLC25A24 SLC35A2 SMARCA4 SMARCB1 SMARCC2 SMARCD1 SMARCE1 SMG9 SOX11 SOX4 SPATA7 SRD5A3 SRPX2 SUFU SYT2 TAF1 TBC1D20 TBC1D24 TBCK TCTN1 TCTN2 TCTN3 TFAP2A THG1L THOC2 TMCO1 TMEM107 TMEM138 TMEM216 TMEM218 TMEM231 TMEM237 TMEM67 TOGARAM1 TOPORS TRAPPC9 TRIP13 TRRAP TSEN15 TSEN2 TSEN34 TSEN54 TUBA1A TUBB TUBB2B TUBB3 TUBB4B TULP1 TXNDC15 USP45 USP9X VPS35L VPS4A VPS51 WARS2 WASHC5 WDR35 WDR73 WDR81 WLS ZEB2 ZIC1 ZNF423

Diseases (259) :ORPHA:137754 ORPHA:101070 ORPHA:98889 OMIM:619297 ORPHA:475 OMIM:608629 ORPHA:220493 ORPHA:65 ORPHA:79321 OMIM:613451 ORPHA:228390 OMIM:304340 ORPHA:821 OMIM:617523 ORPHA:1465 OMIM:614607 OMIM:135900 OMIM:618161 OMIM:617622 ORPHA:97297 OMIM:605039 ORPHA:352577 OMIM:615485 OMIM:618494 ORPHA:314978 ORPHA:357074 OMIM:219200 ORPHA:2834 ORPHA:79500 OMIM:210600 ORPHA:899 ORPHA:79332 OMIM:607091 OMIM:615287 ORPHA:564 OMIM:614175 OMIM:300166 ORPHA:139471 OMIM:607932 ORPHA:444072 ORPHA:1052 OMIM:257300 ORPHA:434179 OMIM:615948 OMIM:619111 ORPHA:1454 ORPHA:2318 ORPHA:7 OMIM:300963 OMIM:619123 ORPHA:487796 OMIM:619841 OMIM:130650 OMIM:243605 OMIM:616300 OMIM:614845 OMIM:610188 OMIM:611134 ORPHA:138 ORPHA:263508 ORPHA:2754 OMIM:277170 OMIM:619876 ORPHA:228308 ORPHA:228305 OMIM:614643 OMIM:618476 ORPHA:397715 ORPHA:453521 OMIM:616127 ORPHA:370997 OMIM:616538 ORPHA:314679 OMIM:617281 OMIM:270400 ORPHA:994 ORPHA:459061 OMIM:616901 OMIM:620070 OMIM:619435 OMIM:614563 ORPHA:93271 OMIM:617330 OMIM:302960 OMIM:300960 ORPHA:401973 OMIM:242840 ORPHA:2319 OMIM:225500 OMIM:619306 OMIM:616081 ORPHA:438178 OMIM:616154 ORPHA:543470 OMIM:613001 OMIM:216340 ORPHA:370968 OMIM:236670 OMIM:613153 OMIM:225790 OMIM:601631 OMIM:602482 OMIM:616819 ORPHA:466688 OMIM:612938 OMIM:617913 ORPHA:477 ORPHA:36 OMIM:618721 ORPHA:373 OMIM:312870 ORPHA:364028 OMIM:614831 OMIM:617988 OMIM:619720 OMIM:600092 OMIM:620083 OMIM:620073 ORPHA:2612 OMIM:236680 OMIM:615630 OMIM:213300 OMIM:618571 OMIM:117360 OMIM:616784 OMIM:616546 OMIM:619476 OMIM:304100 ORPHA:370022 OMIM:615960 OMIM:615191 OMIM:613154 OMIM:620089 OMIM:619074 OMIM:618479 OMIM:618325 OMIM:619775 OMIM:619869 OMIM:156200 OMIM:618959 ORPHA:228384 ORPHA:2745 OMIM:300000 OMIM:249000 OMIM:604498 ORPHA:251347 OMIM:310400 OMIM:610377 OMIM:618460 OMIM:263520 OMIM:609583 ORPHA:220497 OMIM:267010 ORPHA:3032 OMIM:208540 OMIM:249400 OMIM:620001 OMIM:618179 OMIM:300804 ORPHA:2750 OMIM:300486 ORPHA:137831 ORPHA:329224 ORPHA:95232 OMIM:618371 OMIM:615665 ORPHA:401820 OMIM:615802 OMIM:256520 OMIM:616531 OMIM:248700 ORPHA:2059 ORPHA:280633 OMIM:618590 OMIM:619895 ORPHA:722 OMIM:217090 OMIM:212065 ORPHA:79318 OMIM:264090 OMIM:613155 OMIM:613150 OMIM:620024 OMIM:617506 OMIM:619383 OMIM:619909 OMIM:615966 OMIM:610992 ORPHA:284417 OMIM:609069 OMIM:617807 ORPHA:2510 OMIM:600118 ORPHA:401830 OMIM:617751 OMIM:611523 OMIM:311900 OMIM:274000 OMIM:616975 ORPHA:494344 OMIM:300953 OMIM:210710 OMIM:204100 ORPHA:98 OMIM:618876 ORPHA:2524 ORPHA:99742 OMIM:612289 ORPHA:356961 OMIM:614609 OMIM:616938 OMIM:616920 OMIM:612379 OMIM:619461 OMIM:300966 OMIM:220500 OMIM:616900 OMIM:614173 OMIM:614815 OMIM:113620 OMIM:618800 OMIM:300957 ORPHA:1394 OMIM:614465 OMIM:608091 OMIM:603194 OMIM:619562 ORPHA:2752 OMIM:614424 OMIM:216360 OMIM:610688 OMIM:607361 OMIM:619185 OMIM:613192 OMIM:618454 OMIM:612389 OMIM:612390 OMIM:611603 ORPHA:171680 ORPHA:467166 OMIM:615771 OMIM:156610 ORPHA:300570 OMIM:300968 ORPHA:480880 OMIM:619135 OMIM:619273 OMIM:618606 ORPHA:572798 OMIM:220210 OMIM:251300 OMIM:610185 OMIM:617967 OMIM:619648 ORPHA:261552 ORPHA:261537 OMIM:616602 OMIM:618736 OMIM:614844

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

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