Human Phenotype Ontology

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		157
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		34
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome		35
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome		117
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome		1
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3		7
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		180
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		18
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		213
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement		221
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome		14
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0010950	HP:0010950	Abnormal fourth ventricle morphology	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0010950	HP:0002198	Dilated fourth ventricle	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0010950	HP:0002198	Dilated fourth ventricle	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1	HP:0040282 - Frequent	14
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2	HP:0040282 - Frequent	14
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3	HP:0040282 - Frequent	14
HP:0010950	HP:0002198	Dilated fourth ventricle	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0010950	HP:0002198	Dilated fourth ventricle	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0010950	HP:0002198	Dilated fourth ventricle	1	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0010950	HP:0002198	Dilated fourth ventricle	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0010950	HP:0002198	Dilated fourth ventricle	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0010950	HP:0002198	Dilated fourth ventricle	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0010950	HP:0002198	Dilated fourth ventricle	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0010950	HP:0002198	Dilated fourth ventricle	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0010950	HP:0002198	Dilated fourth ventricle	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0010950	HP:0002198	Dilated fourth ventricle	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0010950	HP:0002198	Dilated fourth ventricle	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0010950	HP:0002198	Dilated fourth ventricle	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0010950	HP:0002198	Dilated fourth ventricle	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0010950	HP:0002198	Dilated fourth ventricle	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0010950	HP:0002198	Dilated fourth ventricle	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia	.	118
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0010950	HP:0002198	Dilated fourth ventricle	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0010950	HP:0002198	Dilated fourth ventricle	1	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0010950	HP:0002198	Dilated fourth ventricle	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0010950	HP:0002198	Dilated fourth ventricle	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0010950	HP:0002198	Dilated fourth ventricle	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0010950	HP:0002198	Dilated fourth ventricle	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010950	HP:0002198	Dilated fourth ventricle	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0010950	HP:0002198	Dilated fourth ventricle	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0010950	HP:0002198	Dilated fourth ventricle	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0010950	HP:0002198	Dilated fourth ventricle	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0010950	HP:0002198	Dilated fourth ventricle	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0010950	HP:0002198	Dilated fourth ventricle	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0010950	HP:0002198	Dilated fourth ventricle	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010950	HP:0002198	Dilated fourth ventricle	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0010950	HP:0002198	Dilated fourth ventricle	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0010950	HP:0002198	Dilated fourth ventricle	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0010950	HP:0002198	Dilated fourth ventricle	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0010950	HP:0002198	Dilated fourth ventricle	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0010950	HP:0002198	Dilated fourth ventricle	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0010950	HP:0002198	Dilated fourth ventricle	1	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0010950	HP:0002198	Dilated fourth ventricle	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0010950	HP:0002198	Dilated fourth ventricle	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0010950	HP:0002198	Dilated fourth ventricle	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0010950	HP:0002198	Dilated fourth ventricle	1	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	157
HP:0010950	HP:0002198	Dilated fourth ventricle	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0010950	HP:0002198	Dilated fourth ventricle	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0010950	HP:0002198	Dilated fourth ventricle	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0010950	HP:0002198	Dilated fourth ventricle	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0010950	HP:0002198	Dilated fourth ventricle	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0010950	HP:0002198	Dilated fourth ventricle	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0010950	HP:0002198	Dilated fourth ventricle	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0010950	HP:0002198	Dilated fourth ventricle	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0010950	HP:0002198	Dilated fourth ventricle	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0010950	HP:0002198	Dilated fourth ventricle	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0010950	HP:0002198	Dilated fourth ventricle	1	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	34
HP:0010950	HP:0002198	Dilated fourth ventricle	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0010950	HP:0002198	Dilated fourth ventricle	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0010950	HP:0002198	Dilated fourth ventricle	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0010950	HP:0002198	Dilated fourth ventricle	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0010950	HP:0002198	Dilated fourth ventricle	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0010950	HP:0002198	Dilated fourth ventricle	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0010950	HP:0002198	Dilated fourth ventricle	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0010950	HP:0002198	Dilated fourth ventricle	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0010950	HP:0002198	Dilated fourth ventricle	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0010950	HP:0002198	Dilated fourth ventricle	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0010950	HP:0002198	Dilated fourth ventricle	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0010950	HP:0002198	Dilated fourth ventricle	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0010950	HP:0002198	Dilated fourth ventricle	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0010950	HP:0002198	Dilated fourth ventricle	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0010950	HP:0002198	Dilated fourth ventricle	1	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	HP:0040281 - Very frequent	35
HP:0010950	HP:0002198	Dilated fourth ventricle	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0010950	HP:0002198	Dilated fourth ventricle	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0010950	HP:0002198	Dilated fourth ventricle	1	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0010950	HP:0002198	Dilated fourth ventricle	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0010950	HP:0002198	Dilated fourth ventricle	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0010950	HP:0002198	Dilated fourth ventricle	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0010950	HP:0002198	Dilated fourth ventricle	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0010950	HP:0002198	Dilated fourth ventricle	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0010950	HP:0002198	Dilated fourth ventricle	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0010950	HP:0002198	Dilated fourth ventricle	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0010950	HP:0002198	Dilated fourth ventricle	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0010950	HP:0002198	Dilated fourth ventricle	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0010950	HP:0002198	Dilated fourth ventricle	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0010950	HP:0002198	Dilated fourth ventricle	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0010950	HP:0002198	Dilated fourth ventricle	1	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	117
HP:0010950	HP:0002198	Dilated fourth ventricle	1	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	1
HP:0010950	HP:0002198	Dilated fourth ventricle	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0010950	HP:0002198	Dilated fourth ventricle	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0010950	HP:0002198	Dilated fourth ventricle	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0010950	HP:0002198	Dilated fourth ventricle	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0010950	HP:0002198	Dilated fourth ventricle	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0010950	HP:0002198	Dilated fourth ventricle	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0010950	HP:0002198	Dilated fourth ventricle	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0010950	HP:0002198	Dilated fourth ventricle	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0010950	HP:0002198	Dilated fourth ventricle	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0010950	HP:0002198	Dilated fourth ventricle	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0010950	HP:0002198	Dilated fourth ventricle	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0010950	HP:0002198	Dilated fourth ventricle	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0010950	HP:0002198	Dilated fourth ventricle	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0010950	HP:0002198	Dilated fourth ventricle	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0010950	HP:0002198	Dilated fourth ventricle	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0010950	HP:0002198	Dilated fourth ventricle	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040283 - Occasional	7
HP:0010950	HP:0002198	Dilated fourth ventricle	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0010950	HP:0002198	Dilated fourth ventricle	1	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	180
HP:0010950	HP:0002198	Dilated fourth ventricle	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0010950	HP:0002198	Dilated fourth ventricle	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0010950	HP:0002198	Dilated fourth ventricle	1	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	18
HP:0010950	HP:0002198	Dilated fourth ventricle	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0010950	HP:0002198	Dilated fourth ventricle	1	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	213
HP:0010950	HP:0002198	Dilated fourth ventricle	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0010950	HP:0002198	Dilated fourth ventricle	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0010950	HP:0002198	Dilated fourth ventricle	1	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040282 - Frequent	221
HP:0010950	HP:0002198	Dilated fourth ventricle	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0010950	HP:0002198	Dilated fourth ventricle	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0010950	HP:0002198	Dilated fourth ventricle	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0010950	HP:0002198	Dilated fourth ventricle	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0010950	HP:0002198	Dilated fourth ventricle	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0010950	HP:0002198	Dilated fourth ventricle	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0010950	HP:0002198	Dilated fourth ventricle	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0010950	HP:0002198	Dilated fourth ventricle	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0010950	HP:0002198	Dilated fourth ventricle	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0010950	HP:0002198	Dilated fourth ventricle	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome	HP:0040284 - Very rare	14
HP:0010950	HP:0002198	Dilated fourth ventricle	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0010950	HP:0002198	Dilated fourth ventricle	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0010950	HP:0002198	Dilated fourth ventricle	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:0010950	HP:0002198	Dilated fourth ventricle	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0010950	HP:0002198	Dilated fourth ventricle	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0010950	HP:0002198	Dilated fourth ventricle	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0010950	HP:0002198	Dilated fourth ventricle	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0010950	HP:0002198	Dilated fourth ventricle	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0010950	HP:0002198	Dilated fourth ventricle	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0010950	HP:0002198	Dilated fourth ventricle	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0010950	HP:0002198	Dilated fourth ventricle	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0010950	HP:0002198	Dilated fourth ventricle	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0010950	HP:0001305	Dandy-Walker malformation	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0010950	HP:0001305	Dandy-Walker malformation	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0010950	HP:0001305	Dandy-Walker malformation	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	HP:0040283 - Occasional	13
HP:0010950	HP:0001305	Dandy-Walker malformation	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0010950	HP:0001305	Dandy-Walker malformation	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0010950	HP:0001305	Dandy-Walker malformation	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0010950	HP:0001305	Dandy-Walker malformation	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0010950	HP:0001305	Dandy-Walker malformation	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0010950	HP:0001305	Dandy-Walker malformation	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0010950	HP:0001305	Dandy-Walker malformation	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0010950	HP:0001305	Dandy-Walker malformation	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0010950	HP:0001305	Dandy-Walker malformation	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent	140
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0010950	HP:0001305	Dandy-Walker malformation	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG	HP:0040281 - Very frequent	85
HP:0010950	HP:0001305	Dandy-Walker malformation	2	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.	85
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0010950	HP:0001305	Dandy-Walker malformation	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0010950	HP:0001305	Dandy-Walker malformation	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0010950	HP:0001305	Dandy-Walker malformation	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0010950	HP:0001305	Dandy-Walker malformation	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0010950	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:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0010950	HP:0001305	Dandy-Walker malformation	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0010950	HP:0001305	Dandy-Walker malformation	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0010950	HP:0001305	Dandy-Walker malformation	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0010950	HP:0001305	Dandy-Walker malformation	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0010950	HP:0001305	Dandy-Walker malformation	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	33
HP:0010950	HP:0001305	Dandy-Walker malformation	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	114
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0010950	HP:0001305	Dandy-Walker malformation	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0010950	HP:0001305	Dandy-Walker malformation	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0010950	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:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0010950	HP:0001305	Dandy-Walker malformation	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0010950	HP:0001305	Dandy-Walker malformation	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0010950	HP:0001305	Dandy-Walker malformation	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	91
HP:0010950	HP:0001305	Dandy-Walker malformation	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0010950	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:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0010950	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:0010950	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:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0010950	HP:0001305	Dandy-Walker malformation	2	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0010950	HP:0001305	Dandy-Walker malformation	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0010950	HP:0001305	Dandy-Walker malformation	2	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040283 - Occasional	92
HP:0010950	HP:0001305	Dandy-Walker malformation	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0010950	HP:0001305	Dandy-Walker malformation	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0010950	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:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0010950	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:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0010950	HP:0001305	Dandy-Walker malformation	2	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0010950	HP:0001305	Dandy-Walker malformation	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0010950	HP:0001305	Dandy-Walker malformation	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	270
HP:0010950	HP:0001305	Dandy-Walker malformation	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0010950	HP:0001305	Dandy-Walker malformation	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0010950	HP:0001305	Dandy-Walker malformation	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0010950	HP:0001305	Dandy-Walker malformation	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional
HP:0010950	HP:0001305	Dandy-Walker malformation	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	113
HP:0010950	HP:0001305	Dandy-Walker malformation	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	9
HP:0010950	HP:0001305	Dandy-Walker malformation	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	730
HP:0010950	HP:0001305	Dandy-Walker malformation	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	1
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	167
HP:0010950	HP:0001305	Dandy-Walker malformation	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	196
HP:0010950	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:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0010950	HP:0001305	Dandy-Walker malformation	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0010950	HP:0001305	Dandy-Walker malformation	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0010950	HP:0001305	Dandy-Walker malformation	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0010950	HP:0001305	Dandy-Walker malformation	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0010950	HP:0001305	Dandy-Walker malformation	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0010950	HP:0001305	Dandy-Walker malformation	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	72
HP:0010950	HP:0001305	Dandy-Walker malformation	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0010950	HP:0001305	Dandy-Walker malformation	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	HP:0040283 - Occasional	157
HP:0010950	HP:0001305	Dandy-Walker malformation	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	102
HP:0010950	HP:0001305	Dandy-Walker malformation	2	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0010950	HP:0001305	Dandy-Walker malformation	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0010950	HP:0001305	Dandy-Walker malformation	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0010950	HP:0001305	Dandy-Walker malformation	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0010950	HP:0001305	Dandy-Walker malformation	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0010950	HP:0001305	Dandy-Walker malformation	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0010950	HP:0001305	Dandy-Walker malformation	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0010950	HP:0001305	Dandy-Walker malformation	2	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional	11
HP:0010950	HP:0001305	Dandy-Walker malformation	2	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0010950	HP:0001305	Dandy-Walker malformation	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0010950	HP:0001305	Dandy-Walker malformation	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0010950	HP:0001305	Dandy-Walker malformation	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0010950	HP:0001305	Dandy-Walker malformation	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0010950	HP:0001305	Dandy-Walker malformation	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	73
HP:0010950	HP:0001305	Dandy-Walker malformation	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0010950	HP:0001305	Dandy-Walker malformation	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0010950	HP:0001305	Dandy-Walker malformation	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0010950	HP:0001305	Dandy-Walker malformation	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	2
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0010950	HP:0001305	Dandy-Walker malformation	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	HP:0040283 - Occasional	271
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	HP:0040283 - Occasional	45
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0010950	HP:0001305	Dandy-Walker malformation	2	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	106
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0010950	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:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0010950	HP:0001305	Dandy-Walker malformation	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	83
HP:0010950	HP:0001305	Dandy-Walker malformation	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0010950	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:0010950	HP:0001305	Dandy-Walker malformation	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	HP:0040283 - Occasional	14
HP:0010950	HP:0001305	Dandy-Walker malformation	2	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.	27
HP:0010950	HP:0001305	Dandy-Walker malformation	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional	5
HP:0010950	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