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:0002119	HP:0002119	Ventriculomegaly	0	ACD CL E G H	65057	25070	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	11
HP:0002119	HP:0002119	Ventriculomegaly	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0002119	HP:0002119	Ventriculomegaly	0	ACTA2 CL E G H	59	130	ORPHA:2573	Moyamoya disease	HP:0040282 - Frequent	94
HP:0002119	HP:0002119	Ventriculomegaly	0	ACTB CL E G H	60	132	OMIM:243310	Baraitser-Winter syndrome 1	HP:0040283 - Occasional	72
HP:0002119	HP:0002119	Ventriculomegaly	0	ACTG1 CL E G H	71	144	OMIM:614583	Baraitser-Winter syndrome 2	HP:0040283 - Occasional	123
HP:0002119	HP:0002119	Ventriculomegaly	0	ADAR CL E G H	103	225	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	116
HP:0002119	HP:0002119	Ventriculomegaly	0	ADAT3 CL E G H	113179	25151	OMIM:615286	Mental retardation, autosomal recessive 36		9
HP:0002119	HP:0002119	Ventriculomegaly	0	ADGRG1 CL E G H	9289	4512	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent	88
HP:0002119	HP:0002119	Ventriculomegaly	0	ADGRG1 CL E G H	9289	4512	OMIM:606854	Polymicrogyria, bilateral frontoparietal		88
HP:0002119	HP:0002119	Ventriculomegaly	0	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR		88
HP:0002119	HP:0002119	Ventriculomegaly	0	ADNP CL E G H	23394	15766	ORPHA:404448	ADNP syndrome	HP:0040283 - Occasional	47
HP:0002119	HP:0002119	Ventriculomegaly	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002119	HP:0002119	Ventriculomegaly	0	AHCY CL E G H	191	343	ORPHA:88618	S-adenosylhomocysteine hydrolase deficiency	HP:0040283 - Occasional	31
HP:0002119	HP:0002119	Ventriculomegaly	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0002119	HP:0002119	Ventriculomegaly	0	AKT3 CL E G H	10000	393	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	19
HP:0002119	HP:0002119	Ventriculomegaly	0	AKT3 CL E G H	10000	393	OMIM:615937	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 2	.	19
HP:0002119	HP:0002119	Ventriculomegaly	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0002119	HP:0002119	Ventriculomegaly	0	ALG12 CL E G H	79087	19358	ORPHA:79324	ALG12-CDG	HP:0040283 - Occasional	68
HP:0002119	HP:0002119	Ventriculomegaly	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG		46
HP:0002119	HP:0002119	Ventriculomegaly	0	ALG2 CL E G H	85365	23159	OMIM:607906	Congenital disorder of glycosylation, type Ii		46
HP:0002119	HP:0002119	Ventriculomegaly	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0002119	HP:0002119	Ventriculomegaly	0	ALG8 CL E G H	79053	23161	ORPHA:79325	ALG8-CDG	HP:0040283 - Occasional	46
HP:0002119	HP:0002119	Ventriculomegaly	0	ALPK3 CL E G H	57538	17574	OMIM:618052	Cardiomyopathy, familial hypertrophic 27		89
HP:0002119	HP:0002119	Ventriculomegaly	0	AMPD2 CL E G H	271	469	OMIM:615809	Pontocerebellar hypoplasia, type 9	.	21
HP:0002119	HP:0002119	Ventriculomegaly	0	ANKLE2 CL E G H	23141	29101	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	3
HP:0002119	HP:0002119	Ventriculomegaly	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent	102
HP:0002119	HP:0002119	Ventriculomegaly	0	ANTXR1 CL E G H	84168	21014	OMIM:230740	Gapo syndrome	HP:0040284 - Very rare	8
HP:0002119	HP:0002119	Ventriculomegaly	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	HP:0040283 - Occasional	13
HP:0002119	HP:0002119	Ventriculomegaly	0	AP1S2 CL E G H	8905	560	ORPHA:1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	HP:0040281 - Very frequent	13
HP:0002119	HP:0002119	Ventriculomegaly	0	AP4B1 CL E G H	10717	572	OMIM:614066	Spastic paraplegia 47, autosomal recessive	.	49
HP:0002119	HP:0002119	Ventriculomegaly	0	AP4E1 CL E G H	23431	573	OMIM:613744	Spastic paraplegia 51, autosomal recessive	.	48
HP:0002119	HP:0002119	Ventriculomegaly	0	AP4M1 CL E G H	9179	574	OMIM:612936	Spastic paraplegia 50, autosomal recessive	.	41
HP:0002119	HP:0002119	Ventriculomegaly	0	APC2 CL E G H	10297	24036	OMIM:618677	CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10		1
HP:0002119	HP:0002119	Ventriculomegaly	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0002119	HP:0002119	Ventriculomegaly	0	ARHGAP31 CL E G H	57514	29216	OMIM:100300	Adams-Oliver syndrome 1	.	147
HP:0002119	HP:0002119	Ventriculomegaly	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0002119	HP:0002119	Ventriculomegaly	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002119	HP:0002119	Ventriculomegaly	0	ARID1B CL E G H	57492	18040	ORPHA:251056	6q25 microdeletion syndrome	HP:0040283 - Occasional	219
HP:0002119	HP:0002119	Ventriculomegaly	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0002119	HP:0002119	Ventriculomegaly	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002119	HP:0002119	Ventriculomegaly	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0002119	HP:0002119	Ventriculomegaly	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002119	HP:0002119	Ventriculomegaly	0	ARX CL E G H	170302	18060	OMIM:308350	Developmental and epileptic encephalopathy 1	.	166
HP:0002119	HP:0002119	Ventriculomegaly	0	ARX CL E G H	170302	18060	OMIM:300215	Lissencephaly, X-linked, 2	.	166
HP:0002119	HP:0002119	Ventriculomegaly	0	ARX CL E G H	170302	18060	ORPHA:452	X-linked lissencephaly with abnormal genitalia	HP:0040282 - Frequent	166
HP:0002119	HP:0002119	Ventriculomegaly	0	ASNS CL E G H	440	753	OMIM:615574	Asparagine synthetase deficiency	.	17
HP:0002119	HP:0002119	Ventriculomegaly	0	ASPM CL E G H	259266	19048	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	512
HP:0002119	HP:0002119	Ventriculomegaly	0	ASPM CL E G H	259266	19048	OMIM:608716	Microcephaly 5, primary, autosomal recessive	.	512
HP:0002119	HP:0002119	Ventriculomegaly	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0002119	HP:0002119	Ventriculomegaly	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0002119	HP:0002119	Ventriculomegaly	0	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome	.	7
HP:0002119	HP:0002119	Ventriculomegaly	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0002119	HP:0002119	Ventriculomegaly	0	ATP11A CL E G H	23250	13552	OMIM:619851	LEUKODYSTROPHY, HYPOMYELINATING, 24; HLD24
HP:0002119	HP:0002119	Ventriculomegaly	0	ATP1A1 CL E G H	476	799	OMIM:618314	Hypomagnesemia, seizures, and mental retardation 2	.	4
HP:0002119	HP:0002119	Ventriculomegaly	0	ATP1A3 CL E G H	478	801	OMIM:619606	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 99; DEE99		150
HP:0002119	HP:0002119	Ventriculomegaly	0	ATP6 CL E G H	4508	7414	ORPHA:644	NARP syndrome	HP:0040282 - Frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0002119	HP:0002119	Ventriculomegaly	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0002119	HP:0002119	Ventriculomegaly	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0002119	HP:0002119	Ventriculomegaly	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0002119	HP:0002119	Ventriculomegaly	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0002119	HP:0002119	Ventriculomegaly	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0002119	HP:0002119	Ventriculomegaly	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0002119	HP:0002119	Ventriculomegaly	0	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1		19
HP:0002119	HP:0002119	Ventriculomegaly	0	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2		11
HP:0002119	HP:0002119	Ventriculomegaly	0	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease		14
HP:0002119	HP:0002119	Ventriculomegaly	0	ATXN3 CL E G H	4287	7106	ORPHA:276238	Machado-Joseph disease type 1		14
HP:0002119	HP:0002119	Ventriculomegaly	0	ATXN3 CL E G H	4287	7106	ORPHA:276241	Machado-Joseph disease type 2		14
HP:0002119	HP:0002119	Ventriculomegaly	0	ATXN3 CL E G H	4287	7106	ORPHA:276244	Machado-Joseph disease type 3		14
HP:0002119	HP:0002119	Ventriculomegaly	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	43
HP:0002119	HP:0002119	Ventriculomegaly	0	B3GLCT CL E G H	145173	20207	ORPHA:709	Peters plus syndrome	HP:0040283 - Occasional	36
HP:0002119	HP:0002119	Ventriculomegaly	0	B3GLCT CL E G H	145173	20207	OMIM:261540	Peters-Plus syndrome	.	36
HP:0002119	HP:0002119	Ventriculomegaly	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0002119	HP:0002119	Ventriculomegaly	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0002119	HP:0002119	Ventriculomegaly	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0002119	HP:0002119	Ventriculomegaly	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	17
HP:0002119	HP:0002119	Ventriculomegaly	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0002119	HP:0002119	Ventriculomegaly	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0002119	HP:0002119	Ventriculomegaly	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002119	HP:0002119	Ventriculomegaly	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002119	HP:0002119	Ventriculomegaly	0	BGN CL E G H	633	1044	OMIM:300989	Meester-Loeys syndrome	HP:0040283 - Occasional	7
HP:0002119	HP:0002119	Ventriculomegaly	0	BICD2 CL E G H	23299	17208	OMIM:618291	Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant	.	46
HP:0002119	HP:0002119	Ventriculomegaly	0	BLTP1 CL E G H	84162	26953	OMIM:617822	Alkuraya-Kucinskas syndrome	.
HP:0002119	HP:0002119	Ventriculomegaly	0	BMP2 CL E G H	650	1069	ORPHA:261295	20p12.3 microdeletion syndrome	HP:0040283 - Occasional	13
HP:0002119	HP:0002119	Ventriculomegaly	0	BMP4 CL E G H	652	1071	OMIM:607932	Microphthalmia, syndromic 6		38
HP:0002119	HP:0002119	Ventriculomegaly	0	BRCA1 CL E G H	672	1100	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	5769
HP:0002119	HP:0002119	Ventriculomegaly	0	BRCA2 CL E G H	675	1101	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	7642
HP:0002119	HP:0002119	Ventriculomegaly	0	BRD4 CL E G H	23476	13575	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional
HP:0002119	HP:0002119	Ventriculomegaly	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040282 - Frequent	7
HP:0002119	HP:0002119	Ventriculomegaly	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0002119	HP:0002119	Ventriculomegaly	0	BRIP1 CL E G H	83990	20473	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1086
HP:0002119	HP:0002119	Ventriculomegaly	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	5
HP:0002119	HP:0002119	Ventriculomegaly	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	76
HP:0002119	HP:0002119	Ventriculomegaly	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0002119	HP:0002119	Ventriculomegaly	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	C12ORF57 CL E G H	113246	29521	OMIM:218340	Temtamy syndrome	.	13
HP:0002119	HP:0002119	Ventriculomegaly	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0002119	HP:0002119	Ventriculomegaly	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0002119	HP:0002119	Ventriculomegaly	0	CARS1 CL E G H	833	1493	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002119	HP:0002119	Ventriculomegaly	0	CASK CL E G H	8573	1497	OMIM:300749	Mental retardation and microcephaly with pontine and cerebellar hypoplasia		118
HP:0002119	HP:0002119	Ventriculomegaly	0	CASZ1 CL E G H	54897	26002	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	3
HP:0002119	HP:0002119	Ventriculomegaly	0	CC2D2A CL E G H	57545	29253	OMIM:612285	Joubert syndrome 9		247
HP:0002119	HP:0002119	Ventriculomegaly	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0002119	HP:0002119	Ventriculomegaly	0	CCDC103 CL E G H	388389	32700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	36
HP:0002119	HP:0002119	Ventriculomegaly	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0002119	HP:0002119	Ventriculomegaly	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040282 - Frequent	33
HP:0002119	HP:0002119	Ventriculomegaly	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0002119	HP:0002119	Ventriculomegaly	0	CCDC39 CL E G H	339829	25244	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	126
HP:0002119	HP:0002119	Ventriculomegaly	0	CCDC40 CL E G H	55036	26090	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	182
HP:0002119	HP:0002119	Ventriculomegaly	0	CCDC65 CL E G H	85478	29937	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0002119	HP:0002119	Ventriculomegaly	0	CCDC88A CL E G H	55704	25523	OMIM:617507	Peho-Like syndrome	.	1
HP:0002119	HP:0002119	Ventriculomegaly	0	CCDC88C CL E G H	440193	19967	OMIM:236600	Hydrocephalus, nonsyndromic, autosomal recessive 1	.	54
HP:0002119	HP:0002119	Ventriculomegaly	0	CCND2 CL E G H	894	1583	OMIM:615938	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome 3	.	11
HP:0002119	HP:0002119	Ventriculomegaly	0	CCNO CL E G H	10309	18576	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	23
HP:0002119	HP:0002119	Ventriculomegaly	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040282 - Frequent	6
HP:0002119	HP:0002119	Ventriculomegaly	0	CDC42 CL E G H	998	1736	OMIM:616737	Takenouchi-Kosaki syndrome		6
HP:0002119	HP:0002119	Ventriculomegaly	0	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002119	HP:0002119	Ventriculomegaly	0	CDK5RAP2 CL E G H	55755	18672	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	181
HP:0002119	HP:0002119	Ventriculomegaly	0	CDK6 CL E G H	1021	1777	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	6
HP:0002119	HP:0002119	Ventriculomegaly	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0002119	HP:0002119	Ventriculomegaly	0	CELF2 CL E G H	10659	2550	OMIM:619561	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 97; DEE97
HP:0002119	HP:0002119	Ventriculomegaly	0	CENPJ CL E G H	55835	17272	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	161
HP:0002119	HP:0002119	Ventriculomegaly	0	CEP120 CL E G H	153241	26690	OMIM:617761	Joubert syndrome 31	.	7
HP:0002119	HP:0002119	Ventriculomegaly	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0002119	HP:0002119	Ventriculomegaly	0	CEP135 CL E G H	9662	29086	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	38
HP:0002119	HP:0002119	Ventriculomegaly	0	CEP152 CL E G H	22995	29298	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	146
HP:0002119	HP:0002119	Ventriculomegaly	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0002119	HP:0002119	Ventriculomegaly	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002119	HP:0002119	Ventriculomegaly	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	17
HP:0002119	HP:0002119	Ventriculomegaly	0	CEP63 CL E G H	80254	25815	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	31
HP:0002119	HP:0002119	Ventriculomegaly	0	CFAP221 CL E G H	200373	33720	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	CFAP298 CL E G H	56683	1301	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	CFAP300 CL E G H	85016	28188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	CHD3 CL E G H	1107	1918	OMIM:618205	Snijders blok-campeau syndrome	.	2
HP:0002119	HP:0002119	Ventriculomegaly	0	CHD4 CL E G H	1108	1919	OMIM:617159	Sifrim-Hitz-Weiss syndrome	.	14
HP:0002119	HP:0002119	Ventriculomegaly	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0002119	HP:0002119	Ventriculomegaly	0	CHST14 CL E G H	113189	24464	OMIM:601776	Ehlers-Danlos syndrome, musculocontractural type 1	.	27
HP:0002119	HP:0002119	Ventriculomegaly	0	CHST14 CL E G H	113189	24464	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	27
HP:0002119	HP:0002119	Ventriculomegaly	0	CILK1 CL E G H	22858	21219	OMIM:612651	ENDOCRINE-CEREBROOSTEODYSPLASIA	.
HP:0002119	HP:0002119	Ventriculomegaly	0	CIT CL E G H	11113	1985	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	15
HP:0002119	HP:0002119	Ventriculomegaly	0	CIT CL E G H	11113	1985	OMIM:617090	Microcephaly 17, primary, autosomal recessive	.	15
HP:0002119	HP:0002119	Ventriculomegaly	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0002119	HP:0002119	Ventriculomegaly	0	CLCN4 CL E G H	1183	2022	ORPHA:485350	CLCN4-related X-linked intellectual disability syndrome	HP:0040283 - Occasional	45
HP:0002119	HP:0002119	Ventriculomegaly	0	CLP1 CL E G H	10978	16999	OMIM:615803	Pontocerebellar hypoplasia, type 10	.	7
HP:0002119	HP:0002119	Ventriculomegaly	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0002119	HP:0002119	Ventriculomegaly	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0002119	HP:0002119	Ventriculomegaly	0	COG6 CL E G H	57511	18621	OMIM:614576	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIl; CDG2L		71
HP:0002119	HP:0002119	Ventriculomegaly	0	COG8 CL E G H	84342	18623	ORPHA:95428	COG8-CDG	HP:0040283 - Occasional	39
HP:0002119	HP:0002119	Ventriculomegaly	0	COG8 CL E G H	84342	18623	OMIM:611182	Congenital disorder of glycosylation, type IIh		39
HP:0002119	HP:0002119	Ventriculomegaly	0	COL18A1 CL E G H	80781	2195	OMIM:267750	Knobloch syndrome 1	.	177
HP:0002119	HP:0002119	Ventriculomegaly	0	COL3A1 CL E G H	1281	2201	OMIM:618343	Polymicrogyria with or without vascular-type ehlers-danlos syndrome	.	749
HP:0002119	HP:0002119	Ventriculomegaly	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	193
HP:0002119	HP:0002119	Ventriculomegaly	0	COL4A2 CL E G H	1284	2203	OMIM:614483	PORENCEPHALY 2; POREN2		147
HP:0002119	HP:0002119	Ventriculomegaly	0	COPB2 CL E G H	9276	2232	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	COPB2 CL E G H	9276	2232	OMIM:617800	Microcephaly 19, primary, autosomal recessive	.
HP:0002119	HP:0002119	Ventriculomegaly	0	COX16 CL E G H	51241	20213	OMIM:619355	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 22; MC4DN22
HP:0002119	HP:0002119	Ventriculomegaly	0	COX20 CL E G H	116228	26970	OMIM:619054	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 11; MC4DN11		25
HP:0002119	HP:0002119	Ventriculomegaly	0	COX6B1 CL E G H	1340	2280	OMIM:619051	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 7; MC4DN7		10
HP:0002119	HP:0002119	Ventriculomegaly	0	COX8A CL E G H	1351	2294	OMIM:619059	MITOCHONDRIAL COMPLEX IV DEFICIENCY, NUCLEAR TYPE 15; MC4DN15		1
HP:0002119	HP:0002119	Ventriculomegaly	0	CPLX1 CL E G H	10815	2309	OMIM:194190	Wolf-Hirschhorn syndrome	.	1
HP:0002119	HP:0002119	Ventriculomegaly	0	CPT2 CL E G H	1376	2330	ORPHA:228308	Carnitine palmitoyl transferase II deficiency, neonatal form	HP:0040283 - Occasional	101
HP:0002119	HP:0002119	Ventriculomegaly	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0002119	HP:0002119	Ventriculomegaly	0	CPT2 CL E G H	1376	2330	OMIM:608836	Carnitine palmitoyltransferase II deficiency, lethal neonatal	.	101
HP:0002119	HP:0002119	Ventriculomegaly	0	CRB2 CL E G H	286204	18688	OMIM:219730	Ventriculomegaly with cystic kidney disease	.	12
HP:0002119	HP:0002119	Ventriculomegaly	0	CRPPA CL E G H	729920	37276	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0002119	HP:0002119	Ventriculomegaly	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis	.	149
HP:0002119	HP:0002119	Ventriculomegaly	0	CSGALNACT1 CL E G H	55790	24290	OMIM:618870	SKELETAL DYSPLASIA, MILD, WITH JOINT LAXITY AND ADVANCED BONE AGE; SDJLABA
HP:0002119	HP:0002119	Ventriculomegaly	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	57
HP:0002119	HP:0002119	Ventriculomegaly	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0002119	HP:0002119	Ventriculomegaly	0	CTBP1 CL E G H	1487	2494	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0002119	HP:0002119	Ventriculomegaly	0	CTCF CL E G H	10664	13723	ORPHA:363611	CTCF-related neurodevelopmental disorder	HP:0040282 - Frequent	20
HP:0002119	HP:0002119	Ventriculomegaly	0	CTCF CL E G H	10664	13723	OMIM:615502	Mental retardation, autosomal dominant 21		20
HP:0002119	HP:0002119	Ventriculomegaly	0	CTDP1 CL E G H	9150	2498	ORPHA:48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	HP:0040283 - Occasional	17
HP:0002119	HP:0002119	Ventriculomegaly	0	CTNNB1 CL E G H	1499	2514	ORPHA:404473	Severe intellectual disability-progressive spastic diplegia syndrome	HP:0040283 - Occasional	88
HP:0002119	HP:0002119	Ventriculomegaly	0	CUL4B CL E G H	8450	2555	OMIM:300354	Mental retardation, X-linked, syndromic, Cabezas type	.	38
HP:0002119	HP:0002119	Ventriculomegaly	0	CYFIP2 CL E G H	26999	13760	OMIM:618008	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 65; EIEE65		1
HP:0002119	HP:0002119	Ventriculomegaly	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0002119	HP:0002119	Ventriculomegaly	0	DAG1 CL E G H	1605	2666	ORPHA:370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	HP:0040282 - Frequent	108
HP:0002119	HP:0002119	Ventriculomegaly	0	DAG1 CL E G H	1605	2666	OMIM:616538	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9	.	108
HP:0002119	HP:0002119	Ventriculomegaly	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	108
HP:0002119	HP:0002119	Ventriculomegaly	0	DCHS1 CL E G H	8642	13681	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	27
HP:0002119	HP:0002119	Ventriculomegaly	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation		145
HP:0002119	HP:0002119	Ventriculomegaly	0	DDX3X CL E G H	1654	2745	OMIM:300958	MENTAL RETARDATION, X-LINKED 102; MRX102		57
HP:0002119	HP:0002119	Ventriculomegaly	0	DDX3X CL E G H	1654	2745	ORPHA:457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	HP:0040283 - Occasional	57
HP:0002119	HP:0002119	Ventriculomegaly	0	DEAF1 CL E G H	10522	14677	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	33
HP:0002119	HP:0002119	Ventriculomegaly	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	.	6
HP:0002119	HP:0002119	Ventriculomegaly	0	DHCR24 CL E G H	1718	2859	OMIM:602398	DESMOSTEROLOSIS	.	72
HP:0002119	HP:0002119	Ventriculomegaly	0	DHCR24 CL E G H	1718	2859	ORPHA:35107	Desmosterolosis	HP:0040282 - Frequent	72
HP:0002119	HP:0002119	Ventriculomegaly	0	DHCR7 CL E G H	1717	2860	ORPHA:818	Smith-Lemli-Opitz syndrome	HP:0040282 - Frequent	159
HP:0002119	HP:0002119	Ventriculomegaly	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002119	HP:0002119	Ventriculomegaly	0	DHX30 CL E G H	22907	16716	OMIM:617804	Neurodevelopmental disorder with severe motor impairment and absent language	.	4
HP:0002119	HP:0002119	Ventriculomegaly	0	DIAPH1 CL E G H	1729	2876	ORPHA:2573	Moyamoya disease	HP:0040282 - Frequent	118
HP:0002119	HP:0002119	Ventriculomegaly	0	DISC1 CL E G H	27185	2888	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent	2
HP:0002119	HP:0002119	Ventriculomegaly	0	DKC1 CL E G H	1736	2890	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	65
HP:0002119	HP:0002119	Ventriculomegaly	0	DLL1 CL E G H	28514	2908	OMIM:618709	NEURODEVELOPMENTAL DISORDER WITH NONSPECIFIC BRAIN ABNORMALITIES AND WITH OR WITHOUT SEIZURES; NEDBAS		3
HP:0002119	HP:0002119	Ventriculomegaly	0	DMPK CL E G H	1760	2933	ORPHA:589821	Congenital-onset Steinert myotonic dystrophy		152
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAAF1 CL E G H	123872	30539	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	116
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAAF11 CL E G H	23639	16725	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAAF2 CL E G H	55172	20188	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	78
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAAF3 CL E G H	352909	30492	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	63
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAAF4 CL E G H	161582	21493	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	27
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAAF5 CL E G H	54919	26013	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	62
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAAF6 CL E G H	139212	28570	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAH1 CL E G H	25981	2940	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAH11 CL E G H	8701	2942	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	542
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAH5 CL E G H	1767	2950	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	527
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAH9 CL E G H	1770	2953	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	18
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAI1 CL E G H	27019	2954	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	73
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAI2 CL E G H	64446	18744	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	104
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAJB13 CL E G H	374407	30718	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	2
HP:0002119	HP:0002119	Ventriculomegaly	0	DNAL1 CL E G H	83544	23247	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	167
HP:0002119	HP:0002119	Ventriculomegaly	0	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome		145
HP:0002119	HP:0002119	Ventriculomegaly	0	DNMT3A CL E G H	1788	2978	ORPHA:404443	Tatton-Brown-Rahman syndrome	HP:0040283 - Occasional	44
HP:0002119	HP:0002119	Ventriculomegaly	0	DNMT3A CL E G H	1788	2978	OMIM:615879	Tatton-Brown-Rahman syndrome		44
HP:0002119	HP:0002119	Ventriculomegaly	0	DOHH CL E G H	83475	28662	OMIM:620066
HP:0002119	HP:0002119	Ventriculomegaly	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0002119	HP:0002119	Ventriculomegaly	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0002119	HP:0002119	Ventriculomegaly	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0002119	HP:0002119	Ventriculomegaly	0	DPM1 CL E G H	8813	3005	ORPHA:79322	DPM1-CDG	HP:0040283 - Occasional	27
HP:0002119	HP:0002119	Ventriculomegaly	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002119	HP:0002119	Ventriculomegaly	0	DRC1 CL E G H	92749	24245	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	44
HP:0002119	HP:0002119	Ventriculomegaly	0	DSE CL E G H	29940	21144	ORPHA:2953	Musculocontractural Ehlers-Danlos syndrome	HP:0040283 - Occasional	13
HP:0002119	HP:0002119	Ventriculomegaly	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0002119	HP:0002119	Ventriculomegaly	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0002119	HP:0002119	Ventriculomegaly	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002119	HP:0002119	Ventriculomegaly	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002119	HP:0002119	Ventriculomegaly	0	DYRK1A CL E G H	1859	3091	ORPHA:268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	HP:0040282 - Frequent	134
HP:0002119	HP:0002119	Ventriculomegaly	0	DYRK1A CL E G H	1859	3091	ORPHA:464311	Intellectual disability syndrome due to a DYRK1A point mutation	HP:0040282 - Frequent	134
HP:0002119	HP:0002119	Ventriculomegaly	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0002119	HP:0002119	Ventriculomegaly	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0002119	HP:0002119	Ventriculomegaly	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0002119	HP:0002119	Ventriculomegaly	0	EHMT1 CL E G H	79813	24650	ORPHA:96147	Kleefstra syndrome due to 9q34 microdeletion	HP:0040283 - Occasional	223
HP:0002119	HP:0002119	Ventriculomegaly	0	EHMT1 CL E G H	79813	24650	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	223
HP:0002119	HP:0002119	Ventriculomegaly	0	EIF2S3 CL E G H	1968	3267	OMIM:300148	Mehmo syndrome	.	8
HP:0002119	HP:0002119	Ventriculomegaly	0	EMG1 CL E G H	10436	16912	ORPHA:1270	Bowen-Conradi syndrome	HP:0040283 - Occasional	2
HP:0002119	HP:0002119	Ventriculomegaly	0	EML1 CL E G H	2009	3330	OMIM:600348	Band heterotopia	.	3
HP:0002119	HP:0002119	Ventriculomegaly	0	EOMES CL E G H	8320	3372	ORPHA:171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	HP:0040282 - Frequent	7
HP:0002119	HP:0002119	Ventriculomegaly	0	ERCC2 CL E G H	2068	3434	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	106
HP:0002119	HP:0002119	Ventriculomegaly	0	ERCC3 CL E G H	2071	3435	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	54
HP:0002119	HP:0002119	Ventriculomegaly	0	ERCC3 CL E G H	2071	3435	OMIM:610651	Xeroderma pigmentosum, complementation group B	.	54
HP:0002119	HP:0002119	Ventriculomegaly	0	ERCC4 CL E G H	2072	3436	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	158
HP:0002119	HP:0002119	Ventriculomegaly	0	ERCC4 CL E G H	2072	3436	OMIM:610965	XFE progeroid syndrome	.	158
HP:0002119	HP:0002119	Ventriculomegaly	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0002119	HP:0002119	Ventriculomegaly	0	ERCC6 CL E G H	2074	3438	OMIM:214150	Cerebrooculofacioskeletal syndrome 1		199
HP:0002119	HP:0002119	Ventriculomegaly	0	ERCC6 CL E G H	2074	3438	OMIM:278800	De Sanctis-Cacchione syndrome		199
HP:0002119	HP:0002119	Ventriculomegaly	0	ERCC8 CL E G H	1161	3439	OMIM:216400	Cockayne syndrome A		55
HP:0002119	HP:0002119	Ventriculomegaly	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0002119	HP:0002119	Ventriculomegaly	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0002119	HP:0002119	Ventriculomegaly	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0002119	HP:0002119	Ventriculomegaly	0	EXOC2 CL E G H	55770	24968	OMIM:619306	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH		1
HP:0002119	HP:0002119	Ventriculomegaly	0	EXT1 CL E G H	2131	3512	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	96
HP:0002119	HP:0002119	Ventriculomegaly	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0002119	HP:0002119	Ventriculomegaly	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0002119	HP:0002119	Ventriculomegaly	0	FANCA CL E G H	2175	3582	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	340
HP:0002119	HP:0002119	Ventriculomegaly	0	FANCB CL E G H	2187	3583	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	58
HP:0002119	HP:0002119	Ventriculomegaly	0	FANCB CL E G H	2187	3583	OMIM:300514	FANCONI ANEMIA, COMPLEMENTATION GROUP B; FANCB		58
HP:0002119	HP:0002119	Ventriculomegaly	0	FANCC CL E G H	2176	3584	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	410
HP:0002119	HP:0002119	Ventriculomegaly	0	FANCD2 CL E G H	2177	3585	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	147
HP:0002119	HP:0002119	Ventriculomegaly	0	FANCE CL E G H	2178	3586	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0002119	HP:0002119	Ventriculomegaly	0	FANCF CL E G H	2188	3587	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	87
HP:0002119	HP:0002119	Ventriculomegaly	0	FANCG CL E G H	2189	3588	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	73
HP:0002119	HP:0002119	Ventriculomegaly	0	FANCI CL E G H	55215	25568	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	157
HP:0002119	HP:0002119	Ventriculomegaly	0	FANCL CL E G H	55120	20748	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	53
HP:0002119	HP:0002119	Ventriculomegaly	0	FANCM CL E G H	57697	23168	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	107
HP:0002119	HP:0002119	Ventriculomegaly	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0002119	HP:0002119	Ventriculomegaly	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0002119	HP:0002119	Ventriculomegaly	0	FARS2 CL E G H	10667	21062	OMIM:614946	Combined oxidative phosphorylation deficiency 14	.	36
HP:0002119	HP:0002119	Ventriculomegaly	0	FAT4 CL E G H	79633	23109	ORPHA:314679	Cerebrofacioarticular syndrome	HP:0040283 - Occasional	114
HP:0002119	HP:0002119	Ventriculomegaly	0	FBN1 CL E G H	2200	3603	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	1361
HP:0002119	HP:0002119	Ventriculomegaly	0	FBP1 CL E G H	2203	3606	ORPHA:348	Fructose-1,6-bisphosphatase deficiency	HP:0040283 - Occasional	64
HP:0002119	HP:0002119	Ventriculomegaly	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002119	HP:0002119	Ventriculomegaly	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0002119	HP:0002119	Ventriculomegaly	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0002119	HP:0002119	Ventriculomegaly	0	FGFR1 CL E G H	2260	3688	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	172
HP:0002119	HP:0002119	Ventriculomegaly	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0002119	HP:0002119	Ventriculomegaly	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040283 - Occasional	175
HP:0002119	HP:0002119	Ventriculomegaly	0	FGFR2 CL E G H	2263	3689	OMIM:123790	Beare-Stevenson cutis gyrata syndrome		175
HP:0002119	HP:0002119	Ventriculomegaly	0	FGFR2 CL E G H	2263	3689	ORPHA:168624	Familial scaphocephaly syndrome, McGillivray type	HP:0040283 - Occasional	175
HP:0002119	HP:0002119	Ventriculomegaly	0	FGFR3 CL E G H	2261	3690	ORPHA:1860	Thanatophoric dysplasia type 1	HP:0040282 - Frequent	145
HP:0002119	HP:0002119	Ventriculomegaly	0	FGFR3 CL E G H	2261	3690	ORPHA:93274	Thanatophoric dysplasia type 2	HP:0040282 - Frequent	145
HP:0002119	HP:0002119	Ventriculomegaly	0	FGFRL1 CL E G H	53834	3693	OMIM:194190	Wolf-Hirschhorn syndrome	.
HP:0002119	HP:0002119	Ventriculomegaly	0	FIG4 CL E G H	9896	16873	OMIM:612691	Polymicrogyria, bilateral temporooccipital	.	111
HP:0002119	HP:0002119	Ventriculomegaly	0	FKRP CL E G H	79147	17997	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	157
HP:0002119	HP:0002119	Ventriculomegaly	0	FKRP CL E G H	79147	17997	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	157
HP:0002119	HP:0002119	Ventriculomegaly	0	FKRP CL E G H	79147	17997	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040284 - Very rare	157
HP:0002119	HP:0002119	Ventriculomegaly	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0002119	HP:0002119	Ventriculomegaly	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0002119	HP:0002119	Ventriculomegaly	0	FKRP CL E G H	79147	17997	OMIM:606612	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH OR WITHOUTMENTAL RETARDATION), TYPE B, 5	HP:0040283 - Occasional	157
HP:0002119	HP:0002119	Ventriculomegaly	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	157
HP:0002119	HP:0002119	Ventriculomegaly	0	FKTN CL E G H	2218	3622	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040284 - Very rare	184
HP:0002119	HP:0002119	Ventriculomegaly	0	FKTN CL E G H	2218	3622	ORPHA:272	Congenital muscular dystrophy, Fukuyama type	HP:0040282 - Frequent	184
HP:0002119	HP:0002119	Ventriculomegaly	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0002119	HP:0002119	Ventriculomegaly	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	184
HP:0002119	HP:0002119	Ventriculomegaly	0	FLI1 CL E G H	2313	3749	ORPHA:2308	Jacobsen syndrome	HP:0040282 - Frequent	8
HP:0002119	HP:0002119	Ventriculomegaly	0	FLII CL E G H	2314	3750	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0002119	HP:0002119	Ventriculomegaly	0	FOXF1 CL E G H	2294	3809	OMIM:265380	Alveolar capillary dysplasia with misalignment of pulmonary veins		61
HP:0002119	HP:0002119	Ventriculomegaly	0	FOXJ1 CL E G H	2302	3816	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	FOXP3 CL E G H	50943	6106	OMIM:304790	Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked		32
HP:0002119	HP:0002119	Ventriculomegaly	0	FOXRED1 CL E G H	55572	26927	OMIM:618241	Mitochondrial complex I deficiency, nuclear type 19	.	61
HP:0002119	HP:0002119	Ventriculomegaly	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0002119	HP:0002119	Ventriculomegaly	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0002119	HP:0002119	Ventriculomegaly	0	GABBR2 CL E G H	9568	4507	OMIM:617904	Epileptic encephalopathy, early infantile, 59	.	5
HP:0002119	HP:0002119	Ventriculomegaly	0	GABBR2 CL E G H	9568	4507	OMIM:617903	Neurodevelopmental disorder with poor language and loss of hand skills	.	5
HP:0002119	HP:0002119	Ventriculomegaly	0	GABRD CL E G H	2563	4084	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	10
HP:0002119	HP:0002119	Ventriculomegaly	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0002119	HP:0002119	Ventriculomegaly	0	GAS2L2 CL E G H	246176	24846	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	1
HP:0002119	HP:0002119	Ventriculomegaly	0	GAS8 CL E G H	2622	4166	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	9
HP:0002119	HP:0002119	Ventriculomegaly	0	GBA1 CL E G H	2629	4177	OMIM:608013	Gaucher disease, perinatal lethal	.
HP:0002119	HP:0002119	Ventriculomegaly	0	GBA1 CL E G H	2629	4177	ORPHA:2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	HP:0040283 - Occasional
HP:0002119	HP:0002119	Ventriculomegaly	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0002119	HP:0002119	Ventriculomegaly	0	GCDH CL E G H	2639	4189	ORPHA:25	Glutaryl-CoA dehydrogenase deficiency	HP:0040283 - Occasional	115
HP:0002119	HP:0002119	Ventriculomegaly	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0002119	HP:0002119	Ventriculomegaly	0	GFM2 CL E G H	84340	29682	OMIM:618397	Combined oxidative phosphorylation deficiency 39	.	43
HP:0002119	HP:0002119	Ventriculomegaly	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002119	HP:0002119	Ventriculomegaly	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002119	HP:0002119	Ventriculomegaly	0	GLB1 CL E G H	2720	4298	OMIM:230600	Gm1-gangliosidosis, type II	.	120
HP:0002119	HP:0002119	Ventriculomegaly	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0002119	HP:0002119	Ventriculomegaly	0	GLI3 CL E G H	2737	4319	OMIM:175700	Greig cephalopolysyndactyly syndrome		270
HP:0002119	HP:0002119	Ventriculomegaly	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0002119	HP:0002119	Ventriculomegaly	0	GMPPB CL E G H	29925	22932	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	34
HP:0002119	HP:0002119	Ventriculomegaly	0	GMPPB CL E G H	29925	22932	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	34
HP:0002119	HP:0002119	Ventriculomegaly	0	GNAO1 CL E G H	2775	4389	OMIM:617493	Neurodevelopmental disorder with involuntary movements	.	36
HP:0002119	HP:0002119	Ventriculomegaly	0	GNB2 CL E G H	2783	4398	OMIM:619503	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND DYSMORPHIC FACIES; NEDHYDF
HP:0002119	HP:0002119	Ventriculomegaly	0	GON7 CL E G H	84520	20356	OMIM:619603	GALLOWAY-MOWAT SYNDROME 9; GAMOS9
HP:0002119	HP:0002119	Ventriculomegaly	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0002119	HP:0002119	Ventriculomegaly	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	GPSM2 CL E G H	29899	29501	OMIM:604213	CHUDLEY-MCCULLOUGH SYNDROME; CMCS		74
HP:0002119	HP:0002119	Ventriculomegaly	0	GRIA3 CL E G H	2892	4573	OMIM:300699	Mental retardation, X-linked 94		30
HP:0002119	HP:0002119	Ventriculomegaly	0	GRIK2 CL E G H	2898	4580	OMIM:619580	NEURODEVELOPMENTAL DISORDER WITH IMPAIRED LANGUAGE AND ATAXIA AND WITH OR WITHOUT SEIZURES; NEDLAS		32
HP:0002119	HP:0002119	Ventriculomegaly	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria		108
HP:0002119	HP:0002119	Ventriculomegaly	0	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0002119	HP:0002119	Ventriculomegaly	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions		126
HP:0002119	HP:0002119	Ventriculomegaly	0	GTF2E2 CL E G H	2961	4651	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	2
HP:0002119	HP:0002119	Ventriculomegaly	0	GTF2H5 CL E G H	404672	21157	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002119	HP:0002119	Ventriculomegaly	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	H1-4 CL E G H	3008	4718	OMIM:617537	Rahman syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	H3-3A CL E G H	3020	4764	OMIM:619720	BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
HP:0002119	HP:0002119	Ventriculomegaly	0	HDAC4 CL E G H	9759	14063	OMIM:619797	NEURODEVELOPMENTAL DISORDER WITH CENTRAL HYPOTONIA AND DYSMORPHIC FACIES; NEDCHF		33
HP:0002119	HP:0002119	Ventriculomegaly	0	HDAC8 CL E G H	55869	13315	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	37
HP:0002119	HP:0002119	Ventriculomegaly	0	HDAC8 CL E G H	55869	13315	OMIM:300882	Cornelia de Lange syndrome 5		37
HP:0002119	HP:0002119	Ventriculomegaly	0	HECW2 CL E G H	57520	29853	OMIM:617268	Neurodevelopmental disorder with hypotonia, seizures, and absent language		11
HP:0002119	HP:0002119	Ventriculomegaly	0	HEPACAM CL E G H	220296	26361	OMIM:613925	Megalencephalic leukoencephalopathy with subcortical cysts 2A	.	82
HP:0002119	HP:0002119	Ventriculomegaly	0	HERC1 CL E G H	8925	4867	OMIM:617011	Macrocephaly, dysmorphic facies, and psychomotor retardation	.	16
HP:0002119	HP:0002119	Ventriculomegaly	0	HERC1 CL E G H	8925	4867	ORPHA:457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	HP:0040283 - Occasional	16
HP:0002119	HP:0002119	Ventriculomegaly	0	HERC2 CL E G H	8924	4868	OMIM:176270	Prader-Willi syndrome		38
HP:0002119	HP:0002119	Ventriculomegaly	0	HIBCH CL E G H	26275	4908	ORPHA:88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	HP:0040282 - Frequent	32
HP:0002119	HP:0002119	Ventriculomegaly	0	HK1 CL E G H	3098	4922	OMIM:618547	NEURODEVELOPMENTAL DISORDER WITH VISUAL DEFECTS AND BRAIN ANOMALIES; NEDVIBA		11
HP:0002119	HP:0002119	Ventriculomegaly	0	HNRNPU CL E G H	3192	5048	ORPHA:238769	1q44 microdeletion syndrome	HP:0040282 - Frequent	39
HP:0002119	HP:0002119	Ventriculomegaly	0	HNRNPU CL E G H	3192	5048	OMIM:617391	Epileptic encephalopathy, early infantile, 54	.	39
HP:0002119	HP:0002119	Ventriculomegaly	0	HRAS CL E G H	3265	5173	OMIM:218040	Costello syndrome	.	113
HP:0002119	HP:0002119	Ventriculomegaly	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	113
HP:0002119	HP:0002119	Ventriculomegaly	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	HSD17B4 CL E G H	3295	5213	OMIM:261515	D-bifunctional protein deficiency		98
HP:0002119	HP:0002119	Ventriculomegaly	0	HSPG2 CL E G H	3339	5273	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	345
HP:0002119	HP:0002119	Ventriculomegaly	0	HTRA2 CL E G H	27429	14348	OMIM:617248	3-methylglutaconic aciduria, type VIII	.	39
HP:0002119	HP:0002119	Ventriculomegaly	0	HTT CL E G H	3064	4851	ORPHA:248111	Juvenile Huntington disease	HP:0040283 - Occasional	12
HP:0002119	HP:0002119	Ventriculomegaly	0	HUWE1 CL E G H	10075	30892	OMIM:309590	Mental retardation, x-linked syndromic, Turner type		98
HP:0002119	HP:0002119	Ventriculomegaly	0	HYDIN CL E G H	54768	19368	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	21
HP:0002119	HP:0002119	Ventriculomegaly	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002119	HP:0002119	Ventriculomegaly	0	IDH1 CL E G H	3417	5382	ORPHA:99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria		15
HP:0002119	HP:0002119	Ventriculomegaly	0	IFIH1 CL E G H	64135	18873	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	28
HP:0002119	HP:0002119	Ventriculomegaly	0	IFT140 CL E G H	9742	29077	OMIM:266920	Short-rib thoracic dysplasia 9 with or without polydactyly		148
HP:0002119	HP:0002119	Ventriculomegaly	0	IFT172 CL E G H	26160	30391	OMIM:615630	Short-Rib thoracic dysplasia 10 with or without polydactyly	HP:0040283 - Occasional	48
HP:0002119	HP:0002119	Ventriculomegaly	0	IFT43 CL E G H	112752	29669	OMIM:617866	SHORT-RIB THORACIC DYSPLASIA 18 WITH POLYDACTYLY; SRTD18		11
HP:0002119	HP:0002119	Ventriculomegaly	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0002119	HP:0002119	Ventriculomegaly	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0002119	HP:0002119	Ventriculomegaly	0	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1		111
HP:0002119	HP:0002119	Ventriculomegaly	0	INTU CL E G H	27152	29239	OMIM:617926	OROFACIODIGITAL SYNDROME XVII; OFD17
HP:0002119	HP:0002119	Ventriculomegaly	0	IPW CL E G H	3653	6109	OMIM:176270	Prader-Willi syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	IQSEC2 CL E G H	23096	29059	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	119
HP:0002119	HP:0002119	Ventriculomegaly	0	ISCA1 CL E G H	81689	28660	OMIM:617613	Multiple mitochondrial dysfunctions syndrome 5	.	1
HP:0002119	HP:0002119	Ventriculomegaly	0	ITPR1 CL E G H	3708	6180	OMIM:206700	Gillespie syndrome		177
HP:0002119	HP:0002119	Ventriculomegaly	0	JAM2 CL E G H	58494	14686	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	JAM3 CL E G H	83700	15532	OMIM:613730	Hemorrhagic destruction of the brain, subependymal calcification,and cataracts	.	4
HP:0002119	HP:0002119	Ventriculomegaly	0	KANK1 CL E G H	23189	19309	OMIM:612900	CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 2; CPSQ2		26
HP:0002119	HP:0002119	Ventriculomegaly	0	KANSL1 CL E G H	284058	24565	ORPHA:363958	17q21.31 microdeletion syndrome	HP:0040282 - Frequent	283
HP:0002119	HP:0002119	Ventriculomegaly	0	KANSL1 CL E G H	284058	24565	OMIM:610443	Koolen-De Vries syndrome		283
HP:0002119	HP:0002119	Ventriculomegaly	0	KANSL1 CL E G H	284058	24565	ORPHA:363965	Koolen-De Vries syndrome due to a point mutation	HP:0040282 - Frequent	283
HP:0002119	HP:0002119	Ventriculomegaly	0	KAT8 CL E G H	84148	17933	OMIM:618974	LI-GHORBANI-WEISZ-HUBSHMAN SYNDROME; LIGOWS
HP:0002119	HP:0002119	Ventriculomegaly	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0002119	HP:0002119	Ventriculomegaly	0	KCNAB2 CL E G H	8514	6229	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	1
HP:0002119	HP:0002119	Ventriculomegaly	0	KCNK4 CL E G H	50801	6279	OMIM:618381	Facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002119	HP:0002119	Ventriculomegaly	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0002119	HP:0002119	Ventriculomegaly	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0002119	HP:0002119	Ventriculomegaly	0	KDM6A CL E G H	7403	12637	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent	53
HP:0002119	HP:0002119	Ventriculomegaly	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0002119	HP:0002119	Ventriculomegaly	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040282 - Frequent	24
HP:0002119	HP:0002119	Ventriculomegaly	0	KIAA0753 CL E G H	9851	29110	OMIM:617127	Orofaciodigital syndrome XV	.	4
HP:0002119	HP:0002119	Ventriculomegaly	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0002119	HP:0002119	Ventriculomegaly	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0002119	HP:0002119	Ventriculomegaly	0	KIDINS220 CL E G H	57498	29508	ORPHA:521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	HP:0040282 - Frequent	4
HP:0002119	HP:0002119	Ventriculomegaly	0	KIDINS220 CL E G H	57498	29508	OMIM:619501	VENTRICULOMEGALY AND ARTHROGRYPOSIS; VENARG		4
HP:0002119	HP:0002119	Ventriculomegaly	0	KIF14 CL E G H	9928	19181	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	9
HP:0002119	HP:0002119	Ventriculomegaly	0	KIF1A CL E G H	547	888	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	276
HP:0002119	HP:0002119	Ventriculomegaly	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0002119	HP:0002119	Ventriculomegaly	0	KIF7 CL E G H	374654	30497	OMIM:614120	Hydrolethalus syndrome 2	.	167
HP:0002119	HP:0002119	Ventriculomegaly	0	KIFBP CL E G H	26128	23419	ORPHA:66629	Goldberg-Shprintzen megacolon syndrome	HP:0040283 - Occasional
HP:0002119	HP:0002119	Ventriculomegaly	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0002119	HP:0002119	Ventriculomegaly	0	KMT2C CL E G H	58508	13726	ORPHA:261652	Kleefstra syndrome due to a point mutation	HP:0040283 - Occasional	99
HP:0002119	HP:0002119	Ventriculomegaly	0	KMT2D CL E G H	8085	7133	ORPHA:2322	Kabuki syndrome	HP:0040282 - Frequent	660
HP:0002119	HP:0002119	Ventriculomegaly	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0002119	HP:0002119	Ventriculomegaly	0	KMT5B CL E G H	51111	24283	OMIM:617788	Mental retardation, autosomal dominant 51		2
HP:0002119	HP:0002119	Ventriculomegaly	0	KNL1 CL E G H	57082	24054	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	112
HP:0002119	HP:0002119	Ventriculomegaly	0	KNSTRN CL E G H	90417	30767	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	1
HP:0002119	HP:0002119	Ventriculomegaly	0	KNSTRN CL E G H	90417	30767	OMIM:613328	Roifman-Chitayat syndrome	.	1
HP:0002119	HP:0002119	Ventriculomegaly	0	KPTN CL E G H	11133	6404	OMIM:615637	Mental retardation, autosomal recessive 41		13
HP:0002119	HP:0002119	Ventriculomegaly	0	KRAS CL E G H	3845	6407	ORPHA:2396	Encephalocraniocutaneous lipomatosis	HP:0040282 - Frequent	196
HP:0002119	HP:0002119	Ventriculomegaly	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	196
HP:0002119	HP:0002119	Ventriculomegaly	0	KRT14 CL E G H	3861	6416	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	110
HP:0002119	HP:0002119	Ventriculomegaly	0	KRT5 CL E G H	3852	6442	ORPHA:79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	HP:0040283 - Occasional	173
HP:0002119	HP:0002119	Ventriculomegaly	0	L1CAM CL E G H	3897	6470	OMIM:303350	MASA syndrome	.	134
HP:0002119	HP:0002119	Ventriculomegaly	0	L1CAM CL E G H	3897	6470	ORPHA:2466	MASA syndrome	HP:0040283 - Occasional	134
HP:0002119	HP:0002119	Ventriculomegaly	0	LAMA1 CL E G H	284217	6481	ORPHA:370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome		35
HP:0002119	HP:0002119	Ventriculomegaly	0	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome		35
HP:0002119	HP:0002119	Ventriculomegaly	0	LARGE1 CL E G H	9215	6511	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	136
HP:0002119	HP:0002119	Ventriculomegaly	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0002119	HP:0002119	Ventriculomegaly	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6	.	136
HP:0002119	HP:0002119	Ventriculomegaly	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	136
HP:0002119	HP:0002119	Ventriculomegaly	0	LETM1 CL E G H	3954	6556	OMIM:194190	Wolf-Hirschhorn syndrome	.	2
HP:0002119	HP:0002119	Ventriculomegaly	0	LIPT1 CL E G H	51601	29569	OMIM:616299	Lipoyltransferase 1 deficiency		21
HP:0002119	HP:0002119	Ventriculomegaly	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0002119	HP:0002119	Ventriculomegaly	0	LMNB1 CL E G H	4001	6637	OMIM:619179	MICROCEPHALY 26, PRIMARY, AUTOSOMAL DOMINANT; MCPH26		44
HP:0002119	HP:0002119	Ventriculomegaly	0	LMNB2 CL E G H	84823	6638	OMIM:616540	Epilepsy, progressive myoclonic, 9	.	11
HP:0002119	HP:0002119	Ventriculomegaly	0	LMNB2 CL E G H	84823	6638	OMIM:619180	MICROCEPHALY 27, PRIMARY, AUTOSOMAL DOMINANT; MCPH27		11
HP:0002119	HP:0002119	Ventriculomegaly	0	LONP1 CL E G H	9361	9479	OMIM:600373	CODAS syndrome	.	8
HP:0002119	HP:0002119	Ventriculomegaly	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	8
HP:0002119	HP:0002119	Ventriculomegaly	0	LRRC32 CL E G H	2615	4161	OMIM:619074	CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD
HP:0002119	HP:0002119	Ventriculomegaly	0	LRRC56 CL E G H	115399	25430	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	LSM11 CL E G H	134353	30860	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	LUZP1 CL E G H	7798	14985	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	MAD2L2 CL E G H	10459	6764	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1
HP:0002119	HP:0002119	Ventriculomegaly	0	MAF CL E G H	4094	6776	ORPHA:1272	Aymé-Gripp syndrome	HP:0040282 - Frequent	21
HP:0002119	HP:0002119	Ventriculomegaly	0	MAG CL E G H	4099	6783	OMIM:616680	Spastic paraplegia 75, autosomal recessive	HP:0040283 - Occasional	4
HP:0002119	HP:0002119	Ventriculomegaly	0	MAGEL2 CL E G H	54551	6814	ORPHA:398069	MAGEL2-related Prader-Willi-like syndrome	HP:0040282 - Frequent	63
HP:0002119	HP:0002119	Ventriculomegaly	0	MAGEL2 CL E G H	54551	6814	OMIM:176270	Prader-Willi syndrome		63
HP:0002119	HP:0002119	Ventriculomegaly	0	MAGEL2 CL E G H	54551	6814	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent	63
HP:0002119	HP:0002119	Ventriculomegaly	0	MAGEL2 CL E G H	54551	6814	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent	63
HP:0002119	HP:0002119	Ventriculomegaly	0	MAGEL2 CL E G H	54551	6814	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent	63
HP:0002119	HP:0002119	Ventriculomegaly	0	MAN2C1 CL E G H	4123	6827	OMIM:619775	CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2
HP:0002119	HP:0002119	Ventriculomegaly	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0002119	HP:0002119	Ventriculomegaly	0	MAPRE2 CL E G H	10982	6891	OMIM:616734	Skin creases, congenital symmetric circumferential, 2		4
HP:0002119	HP:0002119	Ventriculomegaly	0	MAST1 CL E G H	22983	19034	OMIM:618273	Mega-Corpus-Callosum syndrome with cerebellar hypoplasia and cortical malformations	.	1
HP:0002119	HP:0002119	Ventriculomegaly	0	MBTPS2 CL E G H	51360	15455	OMIM:308205	Ifap syndrome with or without bresheck syndrome	.	22
HP:0002119	HP:0002119	Ventriculomegaly	0	MCIDAS CL E G H	345643	40050	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	13
HP:0002119	HP:0002119	Ventriculomegaly	0	MCM7 CL E G H	4176	6950	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	MCPH1 CL E G H	79648	6954	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	155
HP:0002119	HP:0002119	Ventriculomegaly	0	MED12 CL E G H	9968	11957	ORPHA:93932	FG syndrome type 1	HP:0040282 - Frequent	228
HP:0002119	HP:0002119	Ventriculomegaly	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0002119	HP:0002119	Ventriculomegaly	0	MED25 CL E G H	81857	28845	OMIM:616449	Basel-Vanagaite-Smirin-Yosef syndrome	.	43
HP:0002119	HP:0002119	Ventriculomegaly	0	MEF2C CL E G H	4208	6996	ORPHA:228384	5q14.3 microdeletion syndrome	HP:0040282 - Frequent	132
HP:0002119	HP:0002119	Ventriculomegaly	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20	.	132
HP:0002119	HP:0002119	Ventriculomegaly	0	METTL5 CL E G H	29081	25006	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	MFSD2A CL E G H	84879	25897	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	5
HP:0002119	HP:0002119	Ventriculomegaly	0	MFSD2A CL E G H	84879	25897	OMIM:616486	Microcephaly 15, primary, autosomal recessive	.	5
HP:0002119	HP:0002119	Ventriculomegaly	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040282 - Frequent	57
HP:0002119	HP:0002119	Ventriculomegaly	0	MINPP1 CL E G H	9562	7102	OMIM:619527	PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16		3
HP:0002119	HP:0002119	Ventriculomegaly	0	MKRN3 CL E G H	7681	7114	OMIM:176270	Prader-Willi syndrome		5
HP:0002119	HP:0002119	Ventriculomegaly	0	MKRN3-AS1 CL E G H	10108		OMIM:176270	Prader-Willi syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0002119	HP:0002119	Ventriculomegaly	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0002119	HP:0002119	Ventriculomegaly	0	MMP23B CL E G H	8510	7171	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	MOCS1 CL E G H	4337	7190	OMIM:252150	Molybdenum cofactor deficiency, complementation group A	.	96
HP:0002119	HP:0002119	Ventriculomegaly	0	MOCS2 CL E G H	4338	7193	OMIM:252160	Molybdenum cofactor deficiency, complementation group B	.	26
HP:0002119	HP:0002119	Ventriculomegaly	0	MPDU1 CL E G H	9526	7207	OMIM:609180	Congenital disorder of glycosylation, type IF		32
HP:0002119	HP:0002119	Ventriculomegaly	0	MPDU1 CL E G H	9526	7207	ORPHA:79323	MPDU1-CDG		32
HP:0002119	HP:0002119	Ventriculomegaly	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0002119	HP:0002119	Ventriculomegaly	0	MPLKIP CL E G H	136647	16002	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	9
HP:0002119	HP:0002119	Ventriculomegaly	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0002119	HP:0002119	Ventriculomegaly	0	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2	.	60
HP:0002119	HP:0002119	Ventriculomegaly	0	MSL3 CL E G H	10943	7370	OMIM:301032	BASILICATA-AKHTAR SYNDROME; MRXSBA
HP:0002119	HP:0002119	Ventriculomegaly	0	MTHFR CL E G H	4524	7436	ORPHA:395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	HP:0040284 - Very rare	183
HP:0002119	HP:0002119	Ventriculomegaly	0	MTHFS CL E G H	10588	7437	OMIM:618367	Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination	.
HP:0002119	HP:0002119	Ventriculomegaly	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002119	HP:0002119	Ventriculomegaly	0	MTOR CL E G H	2475	3942	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	68
HP:0002119	HP:0002119	Ventriculomegaly	0	MTOR CL E G H	2475	3942	ORPHA:457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	HP:0040282 - Frequent	68
HP:0002119	HP:0002119	Ventriculomegaly	0	MTRR CL E G H	4552	7473	ORPHA:2169	Methylcobalamin deficiency type cblE	HP:0040283 - Occasional	88
HP:0002119	HP:0002119	Ventriculomegaly	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0002119	HP:0002119	Ventriculomegaly	0	MYMK CL E G H	389827	33778	OMIM:254940	Carey-Fineman-Ziter syndrome	.	5
HP:0002119	HP:0002119	Ventriculomegaly	0	MYMK CL E G H	389827	33778	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional	5
HP:0002119	HP:0002119	Ventriculomegaly	0	MYMX CL E G H	101929726	52391	ORPHA:1358	Carey-Fineman-Ziter syndrome	HP:0040283 - Occasional
HP:0002119	HP:0002119	Ventriculomegaly	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0002119	HP:0002119	Ventriculomegaly	0	MYORG CL E G H	57462	19918	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	NAA10 CL E G H	8260	18704	ORPHA:276432	Ogden syndrome	HP:0040283 - Occasional	23
HP:0002119	HP:0002119	Ventriculomegaly	0	NAA10 CL E G H	8260	18704	OMIM:300855	Ogden syndrome		23
HP:0002119	HP:0002119	Ventriculomegaly	0	NADK2 CL E G H	133686	26404	OMIM:616034	2,4-Dienoyl-Coa reductase deficiency	.	14
HP:0002119	HP:0002119	Ventriculomegaly	0	NADK2 CL E G H	133686	26404	ORPHA:431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	HP:0040282 - Frequent	14
HP:0002119	HP:0002119	Ventriculomegaly	0	NANS CL E G H	54187	19237	OMIM:610442	Spondyloepimetaphyseal dysplasia, Genevieve type	HP:0040283 - Occasional	8
HP:0002119	HP:0002119	Ventriculomegaly	0	NAXD CL E G H	55739	25576	OMIM:618321	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2
HP:0002119	HP:0002119	Ventriculomegaly	0	NAXE CL E G H	128240	18453	OMIM:617186	Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1		9
HP:0002119	HP:0002119	Ventriculomegaly	0	NCAPD3 CL E G H	23310	28952	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0002119	HP:0002119	Ventriculomegaly	0	NDE1 CL E G H	54820	17619	ORPHA:2177	Hydranencephaly	HP:0040283 - Occasional	96
HP:0002119	HP:0002119	Ventriculomegaly	0	NDE1 CL E G H	54820	17619	OMIM:605013	MICROHYDRANENCEPHALY	.	96
HP:0002119	HP:0002119	Ventriculomegaly	0	NDN CL E G H	4692	7675	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	NDN CL E G H	4692	7675	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	NDN CL E G H	4692	7675	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	NDST1 CL E G H	3340	7680	OMIM:616116	Mental retardation, autosomal recessive 46		27
HP:0002119	HP:0002119	Ventriculomegaly	0	NDUFA6 CL E G H	4700	7690	OMIM:618253	Mitochondrial complex I deficiency, nuclear type 33	.	1
HP:0002119	HP:0002119	Ventriculomegaly	0	NDUFA8 CL E G H	4702	7692	OMIM:619272	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 37; MC1DN37
HP:0002119	HP:0002119	Ventriculomegaly	0	NDUFAF3 CL E G H	25915	29918	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	31
HP:0002119	HP:0002119	Ventriculomegaly	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3		3
HP:0002119	HP:0002119	Ventriculomegaly	0	NDUFB8 CL E G H	4714	7703	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	NDUFS2 CL E G H	4720	7708	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	65
HP:0002119	HP:0002119	Ventriculomegaly	0	NDUFS2 CL E G H	4720	7708	OMIM:618228	Mitochondrial complex I deficiency, nuclear type 6	.	65
HP:0002119	HP:0002119	Ventriculomegaly	0	NDUFS8 CL E G H	4728	7715	OMIM:618222	Mitochondrial complex I deficiency, nuclear type 2		42
HP:0002119	HP:0002119	Ventriculomegaly	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0002119	HP:0002119	Ventriculomegaly	0	NEK10 CL E G H	152110	18592	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	NEXMIF CL E G H	340533	29433	ORPHA:85277	X-linked intellectual disability, Cantagrel type	HP:0040282 - Frequent	52
HP:0002119	HP:0002119	Ventriculomegaly	0	NFIA CL E G H	4774	7784	ORPHA:401986	1p31p32 microdeletion syndrome		12
HP:0002119	HP:0002119	Ventriculomegaly	0	NFIA CL E G H	4774	7784	OMIM:613735	Brain malformations with or without urinary tract defects	.	12
HP:0002119	HP:0002119	Ventriculomegaly	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040282 - Frequent	40
HP:0002119	HP:0002119	Ventriculomegaly	0	NFIX CL E G H	4784	7788	OMIM:602535	Marshall-Smith syndrome		40
HP:0002119	HP:0002119	Ventriculomegaly	0	NFIX CL E G H	4784	7788	ORPHA:561	Marshall-Smith syndrome	HP:0040283 - Occasional	40
HP:0002119	HP:0002119	Ventriculomegaly	0	NFIX CL E G H	4784	7788	OMIM:614753	Sotos syndrome 2	.	40
HP:0002119	HP:0002119	Ventriculomegaly	0	NGLY1 CL E G H	55768	17646	ORPHA:404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	HP:0040283 - Occasional	32
HP:0002119	HP:0002119	Ventriculomegaly	0	NHLRC2 CL E G H	374354	24731	OMIM:618278	Fibrosis, neurodegeneration, and cerebral angiomatosis
HP:0002119	HP:0002119	Ventriculomegaly	0	NIPA1 CL E G H	123606	17043	ORPHA:261183	15q11.2 microdeletion syndrome		117
HP:0002119	HP:0002119	Ventriculomegaly	0	NIPA2 CL E G H	81614	17044	ORPHA:261183	15q11.2 microdeletion syndrome		1
HP:0002119	HP:0002119	Ventriculomegaly	0	NIPBL CL E G H	25836	28862	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	494
HP:0002119	HP:0002119	Ventriculomegaly	0	NME8 CL E G H	51314	16473	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	50
HP:0002119	HP:0002119	Ventriculomegaly	0	NOTCH2NLC CL E G H	100996717	53924	OMIM:603472	NEURONAL INTRANUCLEAR INCLUSION DISEASE
HP:0002119	HP:0002119	Ventriculomegaly	0	NPAP1 CL E G H	23742	1190	OMIM:176270	Prader-Willi syndrome		1
HP:0002119	HP:0002119	Ventriculomegaly	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002119	HP:0002119	Ventriculomegaly	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0002119	HP:0002119	Ventriculomegaly	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0002119	HP:0002119	Ventriculomegaly	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040281 - Very frequent	102
HP:0002119	HP:0002119	Ventriculomegaly	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0002119	HP:0002119	Ventriculomegaly	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0002119	HP:0002119	Ventriculomegaly	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0002119	HP:0002119	Ventriculomegaly	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0002119	HP:0002119	Ventriculomegaly	0	NSD2 CL E G H	7468	12766	OMIM:194190	Wolf-Hirschhorn syndrome	.	118
HP:0002119	HP:0002119	Ventriculomegaly	0	NUP188 CL E G H	23511	17859	OMIM:618804	SANDESTIG-STEFANOVA SYNDROME; SANDSTEF		4
HP:0002119	HP:0002119	Ventriculomegaly	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0002119	HP:0002119	Ventriculomegaly	0	OCA2 CL E G H	4948	8101	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent	121
HP:0002119	HP:0002119	Ventriculomegaly	0	OCA2 CL E G H	4948	8101	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent	121
HP:0002119	HP:0002119	Ventriculomegaly	0	OCA2 CL E G H	4948	8101	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent	121
HP:0002119	HP:0002119	Ventriculomegaly	0	OCLN CL E G H	100506658	8104	OMIM:251290	Band-Like calcification with simplified gyration and polymicrogyria	.	23
HP:0002119	HP:0002119	Ventriculomegaly	0	OCRL CL E G H	4952	8108	OMIM:309000	Lowe syndrome	.	88
HP:0002119	HP:0002119	Ventriculomegaly	0	OCRL CL E G H	4952	8108	ORPHA:534	Oculocerebrorenal syndrome of Lowe	HP:0040282 - Frequent	88
HP:0002119	HP:0002119	Ventriculomegaly	0	ODAD1 CL E G H	93233	26560	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	ODAD2 CL E G H	55130	25583	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	ODAD3 CL E G H	115948	28303	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	ODAD4 CL E G H	83538	25280	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0002119	HP:0002119	Ventriculomegaly	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0002119	HP:0002119	Ventriculomegaly	0	OFD1 CL E G H	8481	2567	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	201
HP:0002119	HP:0002119	Ventriculomegaly	0	OGDH CL E G H	4967	8124	OMIM:203740	Alpha-Ketoglutarate dehydrogenase deficiency
HP:0002119	HP:0002119	Ventriculomegaly	0	OGDHL CL E G H	55753	25590	OMIM:619701	YOON-BELLEN NEURODEVELOPMENTAL SYNDROME; YOBELN		3
HP:0002119	HP:0002119	Ventriculomegaly	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0002119	HP:0002119	Ventriculomegaly	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040282 - Frequent	55
HP:0002119	HP:0002119	Ventriculomegaly	0	OSGEP CL E G H	55644	18028	OMIM:617729	Galloway-Mowat syndrome 3	.
HP:0002119	HP:0002119	Ventriculomegaly	0	OSTM1 CL E G H	28962	21652	ORPHA:85179	Infantile osteopetrosis with neuroaxonal dysplasia	HP:0040282 - Frequent	73
HP:0002119	HP:0002119	Ventriculomegaly	0	OSTM1 CL E G H	28962	21652	OMIM:259720	Osteopetrosis, autosomal recessive 5		73
HP:0002119	HP:0002119	Ventriculomegaly	0	OTUD5 CL E G H	55593	25402	OMIM:301056	MULTIPLE CONGENITAL ANOMALIES-NEURODEVELOPMENTAL SYNDROME, X-LINKED; MCAND
HP:0002119	HP:0002119	Ventriculomegaly	0	OTUD6B CL E G H	51633	24281	ORPHA:505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	HP:0040282 - Frequent	4
HP:0002119	HP:0002119	Ventriculomegaly	0	OTUD6B CL E G H	51633	24281	OMIM:617452	Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies	.	4
HP:0002119	HP:0002119	Ventriculomegaly	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	231
HP:0002119	HP:0002119	Ventriculomegaly	0	PAFAH1B1 CL E G H	5048	8574	OMIM:607432	Lissencephaly 1	.	231
HP:0002119	HP:0002119	Ventriculomegaly	0	PAFAH1B1 CL E G H	5048	8574	ORPHA:95232	Lissencephaly due to LIS1 mutation	HP:0040282 - Frequent	231
HP:0002119	HP:0002119	Ventriculomegaly	0	PALB2 CL E G H	79728	26144	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	1349
HP:0002119	HP:0002119	Ventriculomegaly	0	PARN CL E G H	5073	8609	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	26
HP:0002119	HP:0002119	Ventriculomegaly	0	PAX6 CL E G H	5080	8620	OMIM:120200	COLOBOMA, OCULAR, AUTOSOMAL DOMINANT		194
HP:0002119	HP:0002119	Ventriculomegaly	0	PAX6 CL E G H	5080	8620	ORPHA:137902	Isolated optic nerve hypoplasia/aplasia	HP:0040283 - Occasional	194
HP:0002119	HP:0002119	Ventriculomegaly	0	PCNT CL E G H	5116	16068	ORPHA:2637	Microcephalic osteodysplastic primordial dwarfism type II	HP:0040283 - Occasional	531
HP:0002119	HP:0002119	Ventriculomegaly	0	PDE2A CL E G H	5138	8777	OMIM:619150	INTELLECTUAL DEVELOPMENTAL DISORDER WITH PAROXYSMAL DYSKINESIA OR SEIZURES; IDDPADS
HP:0002119	HP:0002119	Ventriculomegaly	0	PDGFB CL E G H	5155	8800	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent	9
HP:0002119	HP:0002119	Ventriculomegaly	0	PDGFRB CL E G H	5159	8804	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent	28
HP:0002119	HP:0002119	Ventriculomegaly	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	88
HP:0002119	HP:0002119	Ventriculomegaly	0	PDHA1 CL E G H	5160	8806	OMIM:312170	Pyruvate dehydrogenase e1-alpha deficiency	.	88
HP:0002119	HP:0002119	Ventriculomegaly	0	PDHB CL E G H	5162	8808	ORPHA:255138	Pyruvate dehydrogenase E1-beta deficiency	HP:0040283 - Occasional	37
HP:0002119	HP:0002119	Ventriculomegaly	0	PDHX CL E G H	8050	21350	ORPHA:255182	Pyruvate dehydrogenase E3-binding protein deficiency	HP:0040283 - Occasional	98
HP:0002119	HP:0002119	Ventriculomegaly	0	PDPN CL E G H	10630	29602	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0002119	HP:0002119	Ventriculomegaly	0	PHACTR1 CL E G H	221692	20990	OMIM:618298	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 70; DEE70		1
HP:0002119	HP:0002119	Ventriculomegaly	0	PHC1 CL E G H	1911	3182	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	16
HP:0002119	HP:0002119	Ventriculomegaly	0	PHGDH CL E G H	26227	8923	ORPHA:79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	HP:0040283 - Occasional	37
HP:0002119	HP:0002119	Ventriculomegaly	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0002119	HP:0002119	Ventriculomegaly	0	PI4KA CL E G H	5297	8983	OMIM:616531	Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis		11
HP:0002119	HP:0002119	Ventriculomegaly	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0002119	HP:0002119	Ventriculomegaly	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0002119	HP:0002119	Ventriculomegaly	0	PIGA CL E G H	5277	8957	OMIM:301072	NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HEMOCHROMATOSIS; NEDEPH		46
HP:0002119	HP:0002119	Ventriculomegaly	0	PIGB CL E G H	9488	8959	OMIM:618580	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 80; DEE80
HP:0002119	HP:0002119	Ventriculomegaly	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040282 - Frequent	37
HP:0002119	HP:0002119	Ventriculomegaly	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0002119	HP:0002119	Ventriculomegaly	0	PIGO CL E G H	84720	23215	OMIM:614749	Hyperphosphatasia with mental retardation syndrome 2		84
HP:0002119	HP:0002119	Ventriculomegaly	0	PIGQ CL E G H	9091	14135	OMIM:618548	MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 4; MCAHS4		3
HP:0002119	HP:0002119	Ventriculomegaly	0	PIK3CA CL E G H	5290	8975	ORPHA:99802	Hemimegalencephaly	HP:0040282 - Frequent	162
HP:0002119	HP:0002119	Ventriculomegaly	0	PIK3CA CL E G H	5290	8975	ORPHA:60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	HP:0040282 - Frequent	162
HP:0002119	HP:0002119	Ventriculomegaly	0	PIK3CA CL E G H	5290	8975	OMIM:602501	Megalencephaly-Capillary malformation-polymicrogyria syndrome	.	162
HP:0002119	HP:0002119	Ventriculomegaly	0	PIK3CD CL E G H	5293	8977	ORPHA:221139	Combined immunodeficiency with faciooculoskeletal anomalies	HP:0040282 - Frequent	9
HP:0002119	HP:0002119	Ventriculomegaly	0	PIK3CD CL E G H	5293	8977	OMIM:613328	Roifman-Chitayat syndrome	.	9
HP:0002119	HP:0002119	Ventriculomegaly	0	PIK3R2 CL E G H	5296	8980	OMIM:603387	Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus syndrome		12
HP:0002119	HP:0002119	Ventriculomegaly	0	PLAA CL E G H	9373	9043	OMIM:617527	Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies	.	3
HP:0002119	HP:0002119	Ventriculomegaly	0	PLAA CL E G H	9373	9043	ORPHA:521426	PLAA-associated neurodevelopmental disorder	HP:0040282 - Frequent	3
HP:0002119	HP:0002119	Ventriculomegaly	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002119	HP:0002119	Ventriculomegaly	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0002119	HP:0002119	Ventriculomegaly	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0002119	HP:0002119	Ventriculomegaly	0	PLOD3 CL E G H	8985	9083	OMIM:612394	Bone fragility with contractures, arterial rupture, and deafness		5
HP:0002119	HP:0002119	Ventriculomegaly	0	PLPBP CL E G H	11212	9457	OMIM:617290	Epilepsy, early-onset, vitamin b6-dependent	.	6
HP:0002119	HP:0002119	Ventriculomegaly	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0002119	HP:0002119	Ventriculomegaly	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002119	HP:0002119	Ventriculomegaly	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0002119	HP:0002119	Ventriculomegaly	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3		7
HP:0002119	HP:0002119	Ventriculomegaly	0	PNKP CL E G H	11284	9154	OMIM:613402	Microcephaly, seizures, and developmental delay		244
HP:0002119	HP:0002119	Ventriculomegaly	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002119	HP:0002119	Ventriculomegaly	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002119	HP:0002119	Ventriculomegaly	0	POLRMT CL E G H	5442	9200	OMIM:619743	COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 55; COXPD55		1
HP:0002119	HP:0002119	Ventriculomegaly	0	POMGNT1 CL E G H	55624	19139	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	180
HP:0002119	HP:0002119	Ventriculomegaly	0	POMGNT1 CL E G H	55624	19139	OMIM:253280	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3	.	180
HP:0002119	HP:0002119	Ventriculomegaly	0	POMGNT1 CL E G H	55624	19139	OMIM:613151	Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3	.	180
HP:0002119	HP:0002119	Ventriculomegaly	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	180
HP:0002119	HP:0002119	Ventriculomegaly	0	POMGNT2 CL E G H	84892	25902	OMIM:614830	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 8	.	33
HP:0002119	HP:0002119	Ventriculomegaly	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	33
HP:0002119	HP:0002119	Ventriculomegaly	0	POMK CL E G H	84197	26267	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	18
HP:0002119	HP:0002119	Ventriculomegaly	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	18
HP:0002119	HP:0002119	Ventriculomegaly	0	POMT1 CL E G H	10585	9202	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	213
HP:0002119	HP:0002119	Ventriculomegaly	0	POMT1 CL E G H	10585	9202	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	213
HP:0002119	HP:0002119	Ventriculomegaly	0	POMT1 CL E G H	10585	9202	ORPHA:370980	Congenital muscular dystrophy without intellectual disability	HP:0040284 - Very rare	213
HP:0002119	HP:0002119	Ventriculomegaly	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0002119	HP:0002119	Ventriculomegaly	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	213
HP:0002119	HP:0002119	Ventriculomegaly	0	POMT2 CL E G H	29954	19743	ORPHA:370959	Congenital muscular dystrophy with cerebellar involvement	HP:0040283 - Occasional	221
HP:0002119	HP:0002119	Ventriculomegaly	0	POMT2 CL E G H	29954	19743	ORPHA:370968	Congenital muscular dystrophy with intellectual disability	HP:0040283 - Occasional	221
HP:0002119	HP:0002119	Ventriculomegaly	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0002119	HP:0002119	Ventriculomegaly	0	POMT2 CL E G H	29954	19743	OMIM:613150	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2	.	221
HP:0002119	HP:0002119	Ventriculomegaly	0	POMT2 CL E G H	29954	19743	OMIM:613156	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 2	.	221
HP:0002119	HP:0002119	Ventriculomegaly	0	POMT2 CL E G H	29954	19743	ORPHA:206559	POMT2-related limb-girdle muscular dystrophy R14	HP:0040283 - Occasional	221
HP:0002119	HP:0002119	Ventriculomegaly	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent	221
HP:0002119	HP:0002119	Ventriculomegaly	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002119	HP:0002119	Ventriculomegaly	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002119	HP:0002119	Ventriculomegaly	0	PPP1R21 CL E G H	129285	30595	OMIM:619383	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA
HP:0002119	HP:0002119	Ventriculomegaly	0	PPP2CA CL E G H	5515	9299	OMIM:618354	Neurodevelopmental disorder and language delay with or without structural brain abnormalities	.	2
HP:0002119	HP:0002119	Ventriculomegaly	0	PPP2R1A CL E G H	5518	9302	OMIM:616362	Mental retardation, autosomal dominant 36	.	13
HP:0002119	HP:0002119	Ventriculomegaly	0	PPP2R1A CL E G H	5518	9302	ORPHA:457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	HP:0040282 - Frequent	13
HP:0002119	HP:0002119	Ventriculomegaly	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0002119	HP:0002119	Ventriculomegaly	0	PPP2R5D CL E G H	5528	9312	OMIM:616355	Mental retardation, autosomal dominant 35	.	10
HP:0002119	HP:0002119	Ventriculomegaly	0	PRDM16 CL E G H	63976	14000	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	148
HP:0002119	HP:0002119	Ventriculomegaly	0	PRKCZ CL E G H	5590	9412	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	PRNP CL E G H	5621	9449	ORPHA:157941	Huntington disease-like 1	HP:0040282 - Frequent	69
HP:0002119	HP:0002119	Ventriculomegaly	0	PSAP CL E G H	5660	9498	OMIM:611722	KRABBE DISEASE, ATYPICAL, DUE TO SAPOSIN A DEFICIENCY		81
HP:0002119	HP:0002119	Ventriculomegaly	0	PSAT1 CL E G H	29968	19129	OMIM:616038	Neu-Laxova syndrome 2		27
HP:0002119	HP:0002119	Ventriculomegaly	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0002119	HP:0002119	Ventriculomegaly	0	PTCH1 CL E G H	5727	9585	ORPHA:77301	Monosomy 9q22.3	HP:0040282 - Frequent	665
HP:0002119	HP:0002119	Ventriculomegaly	0	PTEN CL E G H	5728	9588	ORPHA:101070	Bilateral frontoparietal polymicrogyria	HP:0040281 - Very frequent	948
HP:0002119	HP:0002119	Ventriculomegaly	0	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0002119	HP:0002119	Ventriculomegaly	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0002119	HP:0002119	Ventriculomegaly	0	PUS3 CL E G H	83480	25461	OMIM:617051	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 55; MRT55		1
HP:0002119	HP:0002119	Ventriculomegaly	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0002119	HP:0002119	Ventriculomegaly	0	PUS7 CL E G H	54517	26033	OMIM:618342	Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature
HP:0002119	HP:0002119	Ventriculomegaly	0	PWAR1 CL E G H	145624	30089	OMIM:176270	Prader-Willi syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	PWRN1 CL E G H	791114	33235	OMIM:176270	Prader-Willi syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	PYCR2 CL E G H	29920	30262	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	11
HP:0002119	HP:0002119	Ventriculomegaly	0	QARS1 CL E G H	5859	9751	OMIM:615760	Microcephaly, progressive, with seizures and cerebral and cerebellar atrophy	.
HP:0002119	HP:0002119	Ventriculomegaly	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3	.	85
HP:0002119	HP:0002119	Ventriculomegaly	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0002119	HP:0002119	Ventriculomegaly	0	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0002119	HP:0002119	Ventriculomegaly	0	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0002119	HP:0002119	Ventriculomegaly	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002119	HP:0002119	Ventriculomegaly	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	HP:0040283 - Occasional	3
HP:0002119	HP:0002119	Ventriculomegaly	0	RAC3 CL E G H	5881	9803	OMIM:618577	NEURODEVELOPMENTAL DISORDER WITH STRUCTURAL BRAIN ANOMALIES AND DYSMORPHIC FACIES; NEDBAF		1
HP:0002119	HP:0002119	Ventriculomegaly	0	RAD21 CL E G H	5885	9811	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	25
HP:0002119	HP:0002119	Ventriculomegaly	0	RAD21 CL E G H	5885	9811	OMIM:614701	Cornelia de Lange syndrome 4		25
HP:0002119	HP:0002119	Ventriculomegaly	0	RAD51 CL E G H	5888	9817	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	9
HP:0002119	HP:0002119	Ventriculomegaly	0	RAD51C CL E G H	5889	9820	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	391
HP:0002119	HP:0002119	Ventriculomegaly	0	RAI1 CL E G H	10743	9834	OMIM:182290	Smith-Magenis syndrome		150
HP:0002119	HP:0002119	Ventriculomegaly	0	RAI1 CL E G H	10743	9834	ORPHA:819	Smith-Magenis syndrome	HP:0040282 - Frequent	150
HP:0002119	HP:0002119	Ventriculomegaly	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0002119	HP:0002119	Ventriculomegaly	0	RERE CL E G H	473	9965	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	16
HP:0002119	HP:0002119	Ventriculomegaly	0	RERE CL E G H	473	9965	OMIM:616975	Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart		16
HP:0002119	HP:0002119	Ventriculomegaly	0	RERE CL E G H	473	9965	ORPHA:494344	RERE-related neurodevelopmental syndrome	HP:0040283 - Occasional	16
HP:0002119	HP:0002119	Ventriculomegaly	0	RFWD3 CL E G H	55159	25539	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional
HP:0002119	HP:0002119	Ventriculomegaly	0	RFWD3 CL E G H	55159	25539	OMIM:617784	Fanconi anemia, complementation group W	.
HP:0002119	HP:0002119	Ventriculomegaly	0	RHOBTB2 CL E G H	23221	18756	OMIM:618004	Epileptic encephalopathy, early infantile, 64	.	1
HP:0002119	HP:0002119	Ventriculomegaly	0	RNASEH2A CL E G H	10535	18518	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	33
HP:0002119	HP:0002119	Ventriculomegaly	0	RNASEH2A CL E G H	10535	18518	OMIM:610333	Aicardi-Goutieres syndrome 4	.	33
HP:0002119	HP:0002119	Ventriculomegaly	0	RNASEH2B CL E G H	79621	25671	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	34
HP:0002119	HP:0002119	Ventriculomegaly	0	RNASEH2C CL E G H	84153	24116	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	60
HP:0002119	HP:0002119	Ventriculomegaly	0	RNASET2 CL E G H	8635	21686	OMIM:612951	Leukoencephalopathy, cystic, without megalencephaly	HP:0040283 - Occasional	37
HP:0002119	HP:0002119	Ventriculomegaly	0	RNF113A CL E G H	7737	12974	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional	3
HP:0002119	HP:0002119	Ventriculomegaly	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0002119	HP:0002119	Ventriculomegaly	0	RNF125 CL E G H	54941	21150	OMIM:616260	Tenorio syndrome	.	5
HP:0002119	HP:0002119	Ventriculomegaly	0	RNF213 CL E G H	57674	14539	ORPHA:2573	Moyamoya disease	HP:0040282 - Frequent	14
HP:0002119	HP:0002119	Ventriculomegaly	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0002119	HP:0002119	Ventriculomegaly	0	RNU7-1 CL E G H	100147744	34033	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002119	HP:0002119	Ventriculomegaly	0	ROGDI CL E G H	79641	29478	OMIM:226750	Kohlschutter-Tonz syndrome	.	57
HP:0002119	HP:0002119	Ventriculomegaly	0	RPGR CL E G H	6103	10295	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	200
HP:0002119	HP:0002119	Ventriculomegaly	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0002119	HP:0002119	Ventriculomegaly	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0002119	HP:0002119	Ventriculomegaly	0	RPS6KA3 CL E G H	6197	10432	OMIM:303600	Coffin-Lowry syndrome	.	65
HP:0002119	HP:0002119	Ventriculomegaly	0	RPS6KA3 CL E G H	6197	10432	ORPHA:192	Coffin-Lowry syndrome	HP:0040282 - Frequent	65
HP:0002119	HP:0002119	Ventriculomegaly	0	RRAS2 CL E G H	22800	17271	OMIM:618624	NOONAN SYNDROME 12; NS12		1
HP:0002119	HP:0002119	Ventriculomegaly	0	RSPH1 CL E G H	89765	12371	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	31
HP:0002119	HP:0002119	Ventriculomegaly	0	RSPH3 CL E G H	83861	21054	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	5
HP:0002119	HP:0002119	Ventriculomegaly	0	RSPH4A CL E G H	345895	21558	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	58
HP:0002119	HP:0002119	Ventriculomegaly	0	RSPH9 CL E G H	221421	21057	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0002119	HP:0002119	Ventriculomegaly	0	RTEL1 CL E G H	51750	15888	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	77
HP:0002119	HP:0002119	Ventriculomegaly	0	RTTN CL E G H	25914	18654	ORPHA:468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	HP:0040282 - Frequent	113
HP:0002119	HP:0002119	Ventriculomegaly	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	SAMHD1 CL E G H	25939	15925	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	55
HP:0002119	HP:0002119	Ventriculomegaly	0	SASS6 CL E G H	163786	25403	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	4
HP:0002119	HP:0002119	Ventriculomegaly	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002119	HP:0002119	Ventriculomegaly	0	SCO2 CL E G H	9997	10604	OMIM:604377	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1		40
HP:0002119	HP:0002119	Ventriculomegaly	0	SCO2 CL E G H	9997	10604	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	40
HP:0002119	HP:0002119	Ventriculomegaly	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0002119	HP:0002119	Ventriculomegaly	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0002119	HP:0002119	Ventriculomegaly	0	SEPSECS CL E G H	51091	30605	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	66
HP:0002119	HP:0002119	Ventriculomegaly	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0002119	HP:0002119	Ventriculomegaly	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040282 - Frequent	143
HP:0002119	HP:0002119	Ventriculomegaly	0	SETD2 CL E G H	29072	18420	OMIM:616831	Luscan-Lumish syndrome		60
HP:0002119	HP:0002119	Ventriculomegaly	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0002119	HP:0002119	Ventriculomegaly	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002119	HP:0002119	Ventriculomegaly	0	SHANK3 CL E G H	85358	14294	OMIM:606232	Phelan-Mcdermid syndrome		53
HP:0002119	HP:0002119	Ventriculomegaly	0	SHH CL E G H	6469	10848	OMIM:142945	Holoprosencephaly 3	.	67
HP:0002119	HP:0002119	Ventriculomegaly	0	SHMT2 CL E G H	6472	10852	OMIM:619121	NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES; NEDCASB
HP:0002119	HP:0002119	Ventriculomegaly	0	SHPK CL E G H	23729	1492	ORPHA:440713	Isolated sedoheptulokinase deficiency	HP:0040282 - Frequent	2
HP:0002119	HP:0002119	Ventriculomegaly	0	SHQ1 CL E G H	55164	25543	OMIM:619922
HP:0002119	HP:0002119	Ventriculomegaly	0	SIM1 CL E G H	6492	10882	ORPHA:398079	SIM1-related Prader-Willi-like syndrome	HP:0040282 - Frequent	40
HP:0002119	HP:0002119	Ventriculomegaly	0	SIN3A CL E G H	25942	19353	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040282 - Frequent	9
HP:0002119	HP:0002119	Ventriculomegaly	0	SIN3A CL E G H	25942	19353	OMIM:613406	Witteveen-Kolk syndrome	.	9
HP:0002119	HP:0002119	Ventriculomegaly	0	SIN3B CL E G H	23309	19354	ORPHA:500166	SIN3A-related intellectual disability syndrome due to a point mutation	HP:0040282 - Frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	SKI CL E G H	6497	10896	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	150
HP:0002119	HP:0002119	Ventriculomegaly	0	SKI CL E G H	6497	10896	ORPHA:2462	Shprintzen-Goldberg syndrome	HP:0040283 - Occasional	150
HP:0002119	HP:0002119	Ventriculomegaly	0	SLC12A6 CL E G H	9990	10914	OMIM:218000	Agenesis of the corpus callosum with peripheral neuropathy	.	163
HP:0002119	HP:0002119	Ventriculomegaly	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0002119	HP:0002119	Ventriculomegaly	0	SLC20A2 CL E G H	6575	10947	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent	70
HP:0002119	HP:0002119	Ventriculomegaly	0	SLC25A1 CL E G H	6576	10979	OMIM:615182	Combined d-2- and l-2-hydroxyglutaric aciduria	.	28
HP:0002119	HP:0002119	Ventriculomegaly	0	SLC25A19 CL E G H	60386	14409	ORPHA:99742	Amish lethal microcephaly	HP:0040282 - Frequent	36
HP:0002119	HP:0002119	Ventriculomegaly	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0002119	HP:0002119	Ventriculomegaly	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0002119	HP:0002119	Ventriculomegaly	0	SLC39A8 CL E G H	64116	20862	ORPHA:468699	SLC39A8-CDG	HP:0040283 - Occasional	11
HP:0002119	HP:0002119	Ventriculomegaly	0	SLC6A9 CL E G H	6536	11056	OMIM:617301	Glycine encephalopathy with normal serum glycine		4
HP:0002119	HP:0002119	Ventriculomegaly	0	SLC9A6 CL E G H	10479	11079	ORPHA:85278	Christianson syndrome	HP:0040282 - Frequent	93
HP:0002119	HP:0002119	Ventriculomegaly	0	SLX4 CL E G H	84464	23845	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	274
HP:0002119	HP:0002119	Ventriculomegaly	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0002119	HP:0002119	Ventriculomegaly	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002119	HP:0002119	Ventriculomegaly	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0002119	HP:0002119	Ventriculomegaly	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0002119	HP:0002119	Ventriculomegaly	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0002119	HP:0002119	Ventriculomegaly	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0002119	HP:0002119	Ventriculomegaly	0	SMC1A CL E G H	8243	11111	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	135
HP:0002119	HP:0002119	Ventriculomegaly	0	SMC1A CL E G H	8243	11111	OMIM:300590	Cornelia de Lange syndrome 2	.	135
HP:0002119	HP:0002119	Ventriculomegaly	0	SMC3 CL E G H	9126	2468	ORPHA:199	Cornelia de Lange syndrome	HP:0040283 - Occasional	91
HP:0002119	HP:0002119	Ventriculomegaly	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0002119	HP:0002119	Ventriculomegaly	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002119	HP:0002119	Ventriculomegaly	0	SMO CL E G H	6608	11119	OMIM:601707	Curry-Jones syndrome	.	22
HP:0002119	HP:0002119	Ventriculomegaly	0	SMO CL E G H	6608	11119	ORPHA:1553	Curry-Jones syndrome	HP:0040282 - Frequent	22
HP:0002119	HP:0002119	Ventriculomegaly	0	SNIP1 CL E G H	79753	30587	OMIM:614501	Psychomotor retardation, epilepsy, and craniofacial dysmorphism	.	3
HP:0002119	HP:0002119	Ventriculomegaly	0	SNORD115-1 CL E G H	338433	33020	OMIM:176270	Prader-Willi syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	SNORD116-1 CL E G H	100033413	33067	OMIM:176270	Prader-Willi syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	SNRPN CL E G H	6638	11164	ORPHA:98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	HP:0040281 - Very frequent	37
HP:0002119	HP:0002119	Ventriculomegaly	0	SNRPN CL E G H	6638	11164	ORPHA:177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	HP:0040281 - Very frequent	37
HP:0002119	HP:0002119	Ventriculomegaly	0	SNRPN CL E G H	6638	11164	ORPHA:177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	HP:0040281 - Very frequent	37
HP:0002119	HP:0002119	Ventriculomegaly	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0002119	HP:0002119	Ventriculomegaly	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040282 - Frequent	12
HP:0002119	HP:0002119	Ventriculomegaly	0	SON CL E G H	6651	11183	OMIM:617140	Zttk syndrome		12
HP:0002119	HP:0002119	Ventriculomegaly	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0002119	HP:0002119	Ventriculomegaly	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002119	HP:0002119	Ventriculomegaly	0	SOX9 CL E G H	6662	11204	ORPHA:140	Campomelic dysplasia	HP:0040283 - Occasional	109
HP:0002119	HP:0002119	Ventriculomegaly	0	SPAG1 CL E G H	6674	11212	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	45
HP:0002119	HP:0002119	Ventriculomegaly	0	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0002119	HP:0002119	Ventriculomegaly	0	SPEF2 CL E G H	79925	26293	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	15
HP:0002119	HP:0002119	Ventriculomegaly	0	SPEN CL E G H	23013	17575	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent	4
HP:0002119	HP:0002119	Ventriculomegaly	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11		287
HP:0002119	HP:0002119	Ventriculomegaly	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0002119	HP:0002119	Ventriculomegaly	0	SPTBN1 CL E G H	6711	11275	OMIM:619475	DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES; DDISBA
HP:0002119	HP:0002119	Ventriculomegaly	0	STAC3 CL E G H	246329	28423	OMIM:255995	Myopathy, congenital, bailey-bloch	HP:0040283 - Occasional	14
HP:0002119	HP:0002119	Ventriculomegaly	0	STIL CL E G H	6491	10879	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	99
HP:0002119	HP:0002119	Ventriculomegaly	0	STK36 CL E G H	27148	17209	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	3
HP:0002119	HP:0002119	Ventriculomegaly	0	STRADA CL E G H	92335	30172	OMIM:611087	Polyhydramnios, megalencephaly, and symptomatic epilepsy	.	6
HP:0002119	HP:0002119	Ventriculomegaly	0	STRADA CL E G H	92335	30172	ORPHA:500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	HP:0040282 - Frequent	6
HP:0002119	HP:0002119	Ventriculomegaly	0	SUCLA2 CL E G H	8803	11448	ORPHA:1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	HP:0040281 - Very frequent	66
HP:0002119	HP:0002119	Ventriculomegaly	0	SUMF1 CL E G H	285362	20376	OMIM:272200	Multiple sulfatase deficiency	.	80
HP:0002119	HP:0002119	Ventriculomegaly	0	SURF1 CL E G H	6834	11474	ORPHA:70474	Leigh syndrome with cardiomyopathy	HP:0040282 - Frequent	73
HP:0002119	HP:0002119	Ventriculomegaly	0	TAF1 CL E G H	6872	11535	OMIM:300966	MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33		21
HP:0002119	HP:0002119	Ventriculomegaly	0	TAF13 CL E G H	6884	11546	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	2
HP:0002119	HP:0002119	Ventriculomegaly	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0002119	HP:0002119	Ventriculomegaly	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002119	HP:0002119	Ventriculomegaly	0	TAPT1 CL E G H	202018	26887	OMIM:616897	Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type		2
HP:0002119	HP:0002119	Ventriculomegaly	0	TARS1 CL E G H	6897	11572	ORPHA:33364	Trichothiodystrophy	HP:0040283 - Occasional
HP:0002119	HP:0002119	Ventriculomegaly	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	.	271
HP:0002119	HP:0002119	Ventriculomegaly	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0002119	HP:0002119	Ventriculomegaly	0	TBC1D2B CL E G H	23102	29183	OMIM:619323	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND GINGIVAL OVERGROWTH; NEDSGO
HP:0002119	HP:0002119	Ventriculomegaly	0	TBCD CL E G H	6904	11581	OMIM:617193	ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM; PEBAT		16
HP:0002119	HP:0002119	Ventriculomegaly	0	TBCE CL E G H	6905	11582	OMIM:241410	Hypoparathyroidism-Retardation-Dysmorphism syndrome	.	52
HP:0002119	HP:0002119	Ventriculomegaly	0	TBCE CL E G H	6905	11582	ORPHA:2323	Sanjad-Sakati syndrome	HP:0040283 - Occasional	52
HP:0002119	HP:0002119	Ventriculomegaly	0	TBCK CL E G H	93627	28261	OMIM:616900	Hypotonia, infantile, with psychomotor retardation and characteristic facies 3		13
HP:0002119	HP:0002119	Ventriculomegaly	0	TBCK CL E G H	93627	28261	ORPHA:488632	TBCK-related intellectual disability syndrome	HP:0040282 - Frequent	13
HP:0002119	HP:0002119	Ventriculomegaly	0	TBL1XR1 CL E G H	79718	29529	ORPHA:487825	Pierpont syndrome	HP:0040283 - Occasional	22
HP:0002119	HP:0002119	Ventriculomegaly	0	TCF4 CL E G H	6925	11634	OMIM:610954	Pitt-Hopkins syndrome		241
HP:0002119	HP:0002119	Ventriculomegaly	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0002119	HP:0002119	Ventriculomegaly	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0002119	HP:0002119	Ventriculomegaly	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0002119	HP:0002119	Ventriculomegaly	0	TERT CL E G H	7015	11730	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	238
HP:0002119	HP:0002119	Ventriculomegaly	0	TET3 CL E G H	200424	28313	OMIM:618798	BECK-FAHRNER SYNDROME; BEFAHRS
HP:0002119	HP:0002119	Ventriculomegaly	0	TGDS CL E G H	23483	20324	ORPHA:1388	Catel-Manzke syndrome	HP:0040283 - Occasional	6
HP:0002119	HP:0002119	Ventriculomegaly	0	THOC2 CL E G H	57187	19073	OMIM:300957	Mental retardation, X-linked 12/35		5
HP:0002119	HP:0002119	Ventriculomegaly	0	THOC6 CL E G H	79228	28369	ORPHA:363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	HP:0040282 - Frequent	1
HP:0002119	HP:0002119	Ventriculomegaly	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0002119	HP:0002119	Ventriculomegaly	0	TINF2 CL E G H	26277	11824	ORPHA:3322	Hoyeraal-Hreidarsson syndrome	HP:0040282 - Frequent	60
HP:0002119	HP:0002119	Ventriculomegaly	0	TMCO1 CL E G H	54499	18188	ORPHA:1394	Cerebrofaciothoracic dysplasia	HP:0040282 - Frequent	6
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM107 CL E G H	84314	28128	OMIM:617563	Orofaciodigital syndrome XVI	.	4
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2		45
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0002119	HP:0002119	Ventriculomegaly	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0002119	HP:0002119	Ventriculomegaly	0	TMTC3 CL E G H	160418	26899	OMIM:617255	Lissencephaly 8	.	5
HP:0002119	HP:0002119	Ventriculomegaly	0	TMX2 CL E G H	51075	30739	OMIM:618730	NEURODEVELOPMENTAL DISORDER WITH MICROCEPHALY, CORTICAL MALFORMATIONS, AND SPASTICITY; NEDMCMS		2
HP:0002119	HP:0002119	Ventriculomegaly	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0002119	HP:0002119	Ventriculomegaly	0	TNNI3 CL E G H	7137	11947	OMIM:115210	CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1; RCM1		180
HP:0002119	HP:0002119	Ventriculomegaly	0	TNPO2 CL E G H	30000	19998	OMIM:619556	INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA, IMPAIRED SPEECH, AND DYSMORPHIC FACIES; IDDHISD
HP:0002119	HP:0002119	Ventriculomegaly	0	TOE1 CL E G H	114034	15954	OMIM:614969	Pontocerebellar hypoplasia, type 7		6
HP:0002119	HP:0002119	Ventriculomegaly	0	TPRKB CL E G H	51002	24259	OMIM:617731	Galloway-Mowat syndrome 5	.
HP:0002119	HP:0002119	Ventriculomegaly	0	TRAF7 CL E G H	84231	20456	OMIM:618164	Cardiac, facial, and digital anomalies with developmental delay	.
HP:0002119	HP:0002119	Ventriculomegaly	0	TRAIP CL E G H	10293	30764	OMIM:616777	Seckel syndrome 9		2
HP:0002119	HP:0002119	Ventriculomegaly	0	TRAPPC10 CL E G H	7109	11868	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	1
HP:0002119	HP:0002119	Ventriculomegaly	0	TRAPPC12 CL E G H	51112	24284	ORPHA:500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	HP:0040282 - Frequent	2
HP:0002119	HP:0002119	Ventriculomegaly	0	TRAPPC12 CL E G H	51112	24284	OMIM:617669	Encephalopathy, progressive, early-onset, with brain atrophy and spasticity	.	2
HP:0002119	HP:0002119	Ventriculomegaly	0	TRAPPC14 CL E G H	55262	25604	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	TRAPPC6B CL E G H	122553	23066	OMIM:617862	Neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy	.
HP:0002119	HP:0002119	Ventriculomegaly	0	TREM2 CL E G H	54209	17761	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent	31
HP:0002119	HP:0002119	Ventriculomegaly	0	TREX1 CL E G H	11277	12269	ORPHA:51	Aicardi-Goutières syndrome	HP:0040282 - Frequent	56
HP:0002119	HP:0002119	Ventriculomegaly	0	TRIM37 CL E G H	4591	7523	OMIM:253250	Mulibrey nanism		78
HP:0002119	HP:0002119	Ventriculomegaly	0	TRIM71 CL E G H	131405	32669	OMIM:618667	HYDROCEPHALUS, CONGENITAL COMMUNICATING, 1; HYDCC1
HP:0002119	HP:0002119	Ventriculomegaly	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	2
HP:0002119	HP:0002119	Ventriculomegaly	0	TRPS1 CL E G H	7227	12340	ORPHA:502	Trichorhinophalangeal syndrome type 2	HP:0040283 - Occasional	171
HP:0002119	HP:0002119	Ventriculomegaly	0	TRRAP CL E G H	8295	12347	OMIM:618454	Developmental delay with or without dysmorphic facies and autism		2
HP:0002119	HP:0002119	Ventriculomegaly	0	TSEN15 CL E G H	116461	16791	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	3
HP:0002119	HP:0002119	Ventriculomegaly	0	TSEN2 CL E G H	80746	28422	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	84
HP:0002119	HP:0002119	Ventriculomegaly	0	TSEN2 CL E G H	80746	28422	OMIM:612389	Pontocerebellar hypoplasia, type 2B	HP:0040283 - Occasional	84
HP:0002119	HP:0002119	Ventriculomegaly	0	TSEN34 CL E G H	79042	15506	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	57
HP:0002119	HP:0002119	Ventriculomegaly	0	TSEN54 CL E G H	283989	27561	ORPHA:2524	Pontocerebellar hypoplasia type 2	HP:0040283 - Occasional	102
HP:0002119	HP:0002119	Ventriculomegaly	0	TSFM CL E G H	10102	12367	OMIM:610505	Combined oxidative phosphorylation deficiency 3	.	43
HP:0002119	HP:0002119	Ventriculomegaly	0	TTC12 CL E G H	54970	23700	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare
HP:0002119	HP:0002119	Ventriculomegaly	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002119	HP:0002119	Ventriculomegaly	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002119	HP:0002119	Ventriculomegaly	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0002119	HP:0002119	Ventriculomegaly	0	TUBA1A CL E G H	7846	20766	OMIM:611603	Lissencephaly 3	.	106
HP:0002119	HP:0002119	Ventriculomegaly	0	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0002119	HP:0002119	Ventriculomegaly	0	TUBA1A CL E G H	7846	20766	ORPHA:467166	Tubulinopathy-associated dysgyria		106
HP:0002119	HP:0002119	Ventriculomegaly	0	TUBB CL E G H	203068	20778	OMIM:615771	Cortical dysplasia, complex, with other brain malformations 6		14
HP:0002119	HP:0002119	Ventriculomegaly	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0002119	HP:0002119	Ventriculomegaly	0	TUBB2A CL E G H	7280	12412	OMIM:615763	Cortical dysplasia, complex, with other brain malformations 5	HP:0040283 - Occasional	23
HP:0002119	HP:0002119	Ventriculomegaly	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation		39
HP:0002119	HP:0002119	Ventriculomegaly	0	TUBB2B CL E G H	347733	30829	ORPHA:467166	Tubulinopathy-associated dysgyria		39
HP:0002119	HP:0002119	Ventriculomegaly	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0002119	HP:0002119	Ventriculomegaly	0	TUBB3 CL E G H	10381	20772	ORPHA:467166	Tubulinopathy-associated dysgyria		64
HP:0002119	HP:0002119	Ventriculomegaly	0	TUBG1 CL E G H	7283	12417	ORPHA:261183	15q11.2 microdeletion syndrome		14
HP:0002119	HP:0002119	Ventriculomegaly	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0002119	HP:0002119	Ventriculomegaly	0	TYROBP CL E G H	7305	12449	ORPHA:2770	Nasu-Hakola disease	HP:0040281 - Very frequent	22
HP:0002119	HP:0002119	Ventriculomegaly	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0002119	HP:0002119	Ventriculomegaly	0	UBE2T CL E G H	29089	25009	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	2
HP:0002119	HP:0002119	Ventriculomegaly	0	UBE3B CL E G H	89910	13478	OMIM:244450	Kaufman oculocerebrofacial syndrome	.	13
HP:0002119	HP:0002119	Ventriculomegaly	0	UBE4B CL E G H	10277	12500	ORPHA:1606	1p36 deletion syndrome	HP:0040281 - Very frequent
HP:0002119	HP:0002119	Ventriculomegaly	0	UBTF CL E G H	7343	12511	ORPHA:500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	HP:0040283 - Occasional	1
HP:0002119	HP:0002119	Ventriculomegaly	0	UGDH CL E G H	7358	12525	OMIM:618792	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 84; DEE84
HP:0002119	HP:0002119	Ventriculomegaly	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2	.	2
HP:0002119	HP:0002119	Ventriculomegaly	0	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040283 - Occasional	2
HP:0002119	HP:0002119	Ventriculomegaly	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002119	HP:0002119	Ventriculomegaly	0	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:0002119	HP:0002119	Ventriculomegaly	0	VPS11 CL E G H	55823	14583	OMIM:616683	Leukodystrophy, hypomyelinating, 12		1
HP:0002119	HP:0002119	Ventriculomegaly	0	VPS11 CL E G H	55823	14583	ORPHA:466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	HP:0040282 - Frequent	1
HP:0002119	HP:0002119	Ventriculomegaly	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0002119	HP:0002119	Ventriculomegaly	0	VPS37A CL E G H	137492	24928	ORPHA:319199	Autosomal recessive spastic paraplegia type 53	HP:0040284 - Very rare	7
HP:0002119	HP:0002119	Ventriculomegaly	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002119	HP:0002119	Ventriculomegaly	0	VPS53 CL E G H	55275	25608	OMIM:615851	Pontocerebellar hypoplasia, type 2E		26
HP:0002119	HP:0002119	Ventriculomegaly	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0002119	HP:0002119	Ventriculomegaly	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0002119	HP:0002119	Ventriculomegaly	0	WAC CL E G H	51322	17327	ORPHA:284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	HP:0040283 - Occasional	20
HP:0002119	HP:0002119	Ventriculomegaly	0	WAC CL E G H	51322	17327	ORPHA:466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	HP:0040283 - Occasional	20
HP:0002119	HP:0002119	Ventriculomegaly	0	WARS2 CL E G H	10352	12730	OMIM:617710	Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures	.	2
HP:0002119	HP:0002119	Ventriculomegaly	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040282 - Frequent	2
HP:0002119	HP:0002119	Ventriculomegaly	0	WASF1 CL E G H	8936	12732	OMIM:618707	NEURODEVELOPMENTAL DISORDER WITH ABSENT LANGUAGE AND VARIABLE SEIZURES; NEDALVS
HP:0002119	HP:0002119	Ventriculomegaly	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040282 - Frequent	83
HP:0002119	HP:0002119	Ventriculomegaly	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0002119	HP:0002119	Ventriculomegaly	0	WDR26 CL E G H	80232	21208	ORPHA:513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	HP:0040283 - Occasional	8
HP:0002119	HP:0002119	Ventriculomegaly	0	WDR26 CL E G H	80232	21208	OMIM:617616	Skraban-Deardorff syndrome	.	8
HP:0002119	HP:0002119	Ventriculomegaly	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0002119	HP:0002119	Ventriculomegaly	0	WDR45B CL E G H	56270	25072	OMIM:617977	Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures	.	1
HP:0002119	HP:0002119	Ventriculomegaly	0	WDR62 CL E G H	284403	24502	ORPHA:2512	Autosomal recessive primary microcephaly	HP:0040282 - Frequent	224
HP:0002119	HP:0002119	Ventriculomegaly	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	.	14
HP:0002119	HP:0002119	Ventriculomegaly	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.	27
HP:0002119	HP:0002119	Ventriculomegaly	0	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0002119	HP:0002119	Ventriculomegaly	0	XPR1 CL E G H	9213	12827	ORPHA:1980	Bilateral striopallidodentate calcinosis	HP:0040281 - Very frequent	4
HP:0002119	HP:0002119	Ventriculomegaly	0	XRCC2 CL E G H	7516	12829	ORPHA:84	Fanconi anemia	HP:0040283 - Occasional	125
HP:0002119	HP:0002119	Ventriculomegaly	0	XRCC4 CL E G H	7518	12831	OMIM:616541	Short stature, microcephaly, and endocrine dysfunction	.	9
HP:0002119	HP:0002119	Ventriculomegaly	0	YARS1 CL E G H	8565	12840	OMIM:619418	NEUROLOGIC, ENDOCRINE, AND PANCREATIC DISEASE, MULTISYSTEM, INFANTILE-ONSET 2; IMNEPD2
HP:0002119	HP:0002119	Ventriculomegaly	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0002119	HP:0002119	Ventriculomegaly	0	YWHAE CL E G H	7531	12851	ORPHA:217385	17p13.3 microduplication syndrome	HP:0040283 - Occasional	14
HP:0002119	HP:0002119	Ventriculomegaly	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome	.	7
HP:0002119	HP:0002119	Ventriculomegaly	0	YY1 CL E G H	7528	12856	ORPHA:506358	Gabriele-de Vries syndrome	HP:0040283 - Occasional	7
HP:0002119	HP:0002119	Ventriculomegaly	0	ZBTB11 CL E G H	27107	16740	OMIM:618383	Intellectual developmental disorder, autosomal recessive 69	.
HP:0002119	HP:0002119	Ventriculomegaly	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0002119	HP:0002119	Ventriculomegaly	0	ZC4H2 CL E G H	55906	24931	OMIM:301041	WIEACKER-WOLFF SYNDROME, FEMALE-RESTRICTED; WRWFFR		19
HP:0002119	HP:0002119	Ventriculomegaly	0	ZEB2 CL E G H	9839	14881	OMIM:235730	Mowat-Wilson syndrome	.	362
HP:0002119	HP:0002119	Ventriculomegaly	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0002119	HP:0002119	Ventriculomegaly	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0002119	HP:0002119	Ventriculomegaly	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0002119	HP:0002119	Ventriculomegaly	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0002119	HP:0002119	Ventriculomegaly	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5	.	34
HP:0002119	HP:0002119	Ventriculomegaly	0	ZMIZ1 CL E G H	57178	16493	OMIM:618659	NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL SKELETAL ANOMALIES; NEDDFSA
HP:0002119	HP:0002119	Ventriculomegaly	0	ZMYND10 CL E G H	51364	19412	ORPHA:244	Primary ciliary dyskinesia	HP:0040284 - Very rare	20
HP:0002119	HP:0002119	Ventriculomegaly	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies	.	4
HP:0002119	HP:0002119	Ventriculomegaly	0	ZNF292 CL E G H	23036	18410	OMIM:619188	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL DOMINANT 64; MRD64		3
HP:0002119	HP:0002119	Ventriculomegaly	0	ZNF335 CL E G H	63925	15807	ORPHA:329228	Microcephalic primordial dwarfism due to ZNF335 deficiency	HP:0040281 - Very frequent	60
HP:0002119	HP:0002119	Ventriculomegaly	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0002119	HP:0002119	Ventriculomegaly	0	ZNF699 CL E G H	374879	24750	OMIM:619488	DEGCAGS SYNDROME; DEGCAGS
HP:0002119	HP:0002119	Ventriculomegaly	0	ZNHIT3 CL E G H	9326	12309	ORPHA:2836	PEHO syndrome	HP:0040282 - Frequent	1
HP:0002119	HP:0002119	Ventriculomegaly	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	.	5
HP:0002119	HP:0002119	Ventriculomegaly	0	ZSWIM6 CL E G H	57688	29316	ORPHA:1827	Acromelic frontonasal dysplasia	HP:0040282 - Frequent	5
HP:0002119	HP:0100952	Enlarged sylvian cistern	1	ADGRG1 CL E G H	9289	4512	OMIM:615752	POLYMICROGYRIA, BILATERAL PERISYLVIAN, AUTOSOMAL RECESSIVE; BPPR		88
HP:0002119	HP:0002198	Dilated fourth ventricle	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002119	HP:0100951	Enlarged fossa interpeduncularis	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3	.	175
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040283 - Occasional	46
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0002119	HP:0002198	Dilated fourth ventricle	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0002119	HP:0010952	Mild fetal ventriculomegaly	1	ASXL2 CL E G H	55252	23805	OMIM:617190	Shashi-Pena syndrome		7
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0002119	HP:0007082	Dilated third ventricle	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome	HP:0040283 - Occasional	36
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	ATXN1 CL E G H	6310	10548	OMIM:164400	Spinocerebellar ataxia 1	.	19
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ATXN2 CL E G H	6311	10555	OMIM:183090	Spinocerebellar ataxia 2	.	11
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ATXN3 CL E G H	4287	7106	OMIM:109150	Machado-Joseph disease	.	14
HP:0002119	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:0002119	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:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0002119	HP:0002198	Dilated fourth ventricle	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0002119	HP:0002198	Dilated fourth ventricle	1	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0002119	HP:0002198	Dilated fourth ventricle	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0002119	HP:0002198	Dilated fourth ventricle	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0002119	HP:0002198	Dilated fourth ventricle	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002119	HP:0002198	Dilated fourth ventricle	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002119	HP:0002198	Dilated fourth ventricle	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0002119	HP:0002198	Dilated fourth ventricle	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0002119	HP:0002198	Dilated fourth ventricle	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002119	HP:0002198	Dilated fourth ventricle	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0002119	HP:0002198	Dilated fourth ventricle	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0002119	HP:0007082	Dilated third ventricle	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0002119	HP:0002198	Dilated fourth ventricle	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0002119	HP:0002198	Dilated fourth ventricle	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0002119	HP:0002198	Dilated fourth ventricle	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0002119	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:0002119	HP:0010952	Mild fetal ventriculomegaly	1	CDC42BPB CL E G H	9578	1738	OMIM:619841
HP:0002119	HP:0002198	Dilated fourth ventricle	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0002119	HP:0002198	Dilated fourth ventricle	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002119	HP:0002198	Dilated fourth ventricle	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0002119	HP:0002198	Dilated fourth ventricle	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0002119	HP:0002198	Dilated fourth ventricle	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0002119	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:0002119	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:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0002119	HP:0002198	Dilated fourth ventricle	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002119	HP:0002198	Dilated fourth ventricle	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0002119	HP:0007082	Dilated third ventricle	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002119	HP:0002198	Dilated fourth ventricle	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0002119	HP:0002198	Dilated fourth ventricle	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation	HP:0040283 - Occasional	145
HP:0002119	HP:0002198	Dilated fourth ventricle	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0002119	HP:0002198	Dilated fourth ventricle	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002119	HP:0007082	Dilated third ventricle	1	DNMT1 CL E G H	1786	2976	ORPHA:314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	HP:0040283 - Occasional	145
HP:0002119	HP:0002198	Dilated fourth ventricle	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0002119	HP:0002198	Dilated fourth ventricle	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002119	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:0002119	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:0002119	HP:0010952	Mild fetal ventriculomegaly	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002119	HP:0002198	Dilated fourth ventricle	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0002119	HP:0002198	Dilated fourth ventricle	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0002119	HP:0002198	Dilated fourth ventricle	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002119	HP:0002198	Dilated fourth ventricle	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002119	HP:0002198	Dilated fourth ventricle	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0002119	HP:0002198	Dilated fourth ventricle	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0002119	HP:0002198	Dilated fourth ventricle	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0002119	HP:0002198	Dilated fourth ventricle	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0002119	HP:0002198	Dilated fourth ventricle	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0002119	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:0002119	HP:0006956	Lateral ventricle dilatation	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0002119	HP:0002198	Dilated fourth ventricle	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0002119	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:0002119	HP:0006956	Lateral ventricle dilatation	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0002119	HP:0002198	Dilated fourth ventricle	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0002119	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:0002119	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:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0002119	HP:0002198	Dilated fourth ventricle	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0002119	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:0002119	HP:0006956	Lateral ventricle dilatation	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39	HP:0040283 - Occasional	43
HP:0002119	HP:0002198	Dilated fourth ventricle	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002119	HP:0002198	Dilated fourth ventricle	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002119	HP:0002198	Dilated fourth ventricle	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0002119	HP:0002198	Dilated fourth ventricle	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0002119	HP:0002198	Dilated fourth ventricle	1	GRM1 CL E G H	2911	4593	OMIM:614831	SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13		8
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0002119	HP:0002198	Dilated fourth ventricle	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002119	HP:0002198	Dilated fourth ventricle	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002119	HP:0002198	Dilated fourth ventricle	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0002119	HP:0002198	Dilated fourth ventricle	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002119	HP:0002198	Dilated fourth ventricle	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0002119	HP:0002198	Dilated fourth ventricle	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0002119	HP:0100951	Enlarged fossa interpeduncularis	1	INPP5E CL E G H	56623	21474	OMIM:213300	Joubert syndrome 1	.	111
HP:0002119	HP:0007082	Dilated third ventricle	1	KCNN2 CL E G H	3781	6291	OMIM:619725	NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT VARIABLE MOVEMENT OR BEHAVIORAL ABNORMALITIES; NEDMAB
HP:0002119	HP:0002198	Dilated fourth ventricle	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0002119	HP:0002198	Dilated fourth ventricle	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0002119	HP:0002198	Dilated fourth ventricle	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0002119	HP:0007082	Dilated third ventricle	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0002119	HP:0007082	Dilated third ventricle	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0002119	HP:0002198	Dilated fourth ventricle	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0002119	HP:0002198	Dilated fourth ventricle	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	LAMA1 CL E G H	284217	6481	OMIM:615960	Poretti-Boltshauser syndrome	.	35
HP:0002119	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:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	8
HP:0002119	HP:0002198	Dilated fourth ventricle	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0002119	HP:0002198	Dilated fourth ventricle	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0002119	HP:0007082	Dilated third ventricle	1	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome	HP:0040283 - Occasional	43
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0002119	HP:0002198	Dilated fourth ventricle	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0002119	HP:0002198	Dilated fourth ventricle	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0002119	HP:0002198	Dilated fourth ventricle	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0002119	HP:0002198	Dilated fourth ventricle	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0002119	HP:0002198	Dilated fourth ventricle	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040282 - Frequent	532
HP:0002119	HP:0010952	Mild fetal ventriculomegaly	1	MRPS16 CL E G H	51021	14048	OMIM:610498	Combined oxidative phosphorylation deficiency 2		60
HP:0002119	HP:0002198	Dilated fourth ventricle	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002119	HP:0002198	Dilated fourth ventricle	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0002119	HP:0002198	Dilated fourth ventricle	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3	.	3
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly	HP:0040283 - Occasional	101
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0002119	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:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002119	HP:0002198	Dilated fourth ventricle	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0002119	HP:0002198	Dilated fourth ventricle	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0002119	HP:0002198	Dilated fourth ventricle	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0002119	HP:0002198	Dilated fourth ventricle	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0002119	HP:0002198	Dilated fourth ventricle	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0002119	HP:0007082	Dilated third ventricle	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	HP:0040283 - Occasional	1
HP:0002119	HP:0002198	Dilated fourth ventricle	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency	HP:0040282 - Frequent	88
HP:0002119	HP:0100952	Enlarged sylvian cistern	1	PGAP1 CL E G H	80055	25712	OMIM:615802	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42		20
HP:0002119	HP:0002198	Dilated fourth ventricle	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0002119	HP:0002198	Dilated fourth ventricle	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0002119	HP:0002198	Dilated fourth ventricle	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0002119	HP:0002198	Dilated fourth ventricle	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002119	HP:0002198	Dilated fourth ventricle	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0002119	HP:0002198	Dilated fourth ventricle	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0002119	HP:0002198	Dilated fourth ventricle	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002119	HP:0002198	Dilated fourth ventricle	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0002119	HP:0002198	Dilated fourth ventricle	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0002119	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:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0002119	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:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0002119	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:0002119	HP:0006956	Lateral ventricle dilatation	1	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	HP:0040283 - Occasional	10
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	HP:0040283 - Occasional	27
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	PTPN23 CL E G H	25930	14406	OMIM:618890	NEURODEVELOPMENTAL DISORDER AND STRUCTURAL BRAIN ANOMALIES WITH OR WITHOUT SEIZURES AND SPASTICITY; NEDBASS		3
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	HP:0040283 - Occasional	1
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0002119	HP:0100952	Enlarged sylvian cistern	1	RAB3GAP1 CL E G H	22930	17063	OMIM:600118	Warburg micro syndrome 1		90
HP:0002119	HP:0100952	Enlarged sylvian cistern	1	RAB3GAP2 CL E G H	25782	17168	OMIM:212720	Martsolf syndrome 1		135
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002119	HP:0002198	Dilated fourth ventricle	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002119	HP:0002198	Dilated fourth ventricle	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0002119	HP:0002198	Dilated fourth ventricle	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0002119	HP:0002198	Dilated fourth ventricle	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0002119	HP:0002198	Dilated fourth ventricle	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0002119	HP:0002198	Dilated fourth ventricle	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation	HP:0040283 - Occasional	37
HP:0002119	HP:0007100	Progressive ventriculomegaly	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	HP:0040283 - Occasional	12
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0002119	HP:0002198	Dilated fourth ventricle	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002119	HP:0100952	Enlarged sylvian cistern	1	SPATA5L1 CL E G H	79029	28762	OMIM:619616	NEURODEVELOPMENTAL DISORDER WITH HEARING LOSS AND SPASTICITY; NEDHLS
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11	HP:0040282 - Frequent	287
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002119	HP:0007082	Dilated third ventricle	1	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0002119	HP:0100951	Enlarged fossa interpeduncularis	1	TMEM216 CL E G H	51259	25018	OMIM:608091	Joubert syndrome 2	.	45
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6		166
HP:0002119	HP:0100951	Enlarged fossa interpeduncularis	1	TMEM67 CL E G H	91147	28396	OMIM:610688	Joubert syndrome 6	.	166
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0002119	HP:0007082	Dilated third ventricle	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0002119	HP:0002198	Dilated fourth ventricle	1	TUBA1A CL E G H	7846	20766	ORPHA:171680	Lissencephaly due to TUBA1A mutation		106
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation	HP:0040283 - Occasional	39
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	HP:0040283 - Occasional	64
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0002119	HP:0007082	Dilated third ventricle	1	USP7 CL E G H	7874	12630	ORPHA:500055	16p13.2 microdeletion syndrome	HP:0040282 - Frequent	2
HP:0002119	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:0002119	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:0002119	HP:0006956	Lateral ventricle dilatation	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002119	HP:0002198	Dilated fourth ventricle	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect	HP:0040283 - Occasional	2
HP:0002119	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:0002119	HP:0002198	Dilated fourth ventricle	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0002119	HP:0002198	Dilated fourth ventricle	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0002119	HP:0002198	Dilated fourth ventricle	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0002119	HP:0002198	Dilated fourth ventricle	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0002119	HP:0002198	Dilated fourth ventricle	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0002119	HP:0002198	Dilated fourth ventricle	1	WLS CL E G H	79971	30238	OMIM:619648	ZAKI SYNDROME; ZKS
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040282 - Frequent	362
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040282 - Frequent	362
HP:0002119	HP:0002198	Dilated fourth ventricle	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0002119	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:0002119	HP:0006956	Lateral ventricle dilatation	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0002119	HP:0006956	Lateral ventricle dilatation	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0002119	HP:0001305	Dandy-Walker malformation	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002119	HP:0001305	Dandy-Walker malformation	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0002119	HP:0001305	Dandy-Walker malformation	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	HP:0040283 - Occasional	13
HP:0002119	HP:0001305	Dandy-Walker malformation	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0002119	HP:0001305	Dandy-Walker malformation	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002119	HP:0001305	Dandy-Walker malformation	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0002119	HP:0001305	Dandy-Walker malformation	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0002119	HP:0001305	Dandy-Walker malformation	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0002119	HP:0001305	Dandy-Walker malformation	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002119	HP:0001305	Dandy-Walker malformation	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0002119	HP:0001305	Dandy-Walker malformation	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0002119	HP:0001305	Dandy-Walker malformation	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent	140
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0002119	HP:0001305	Dandy-Walker malformation	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG	HP:0040281 - Very frequent	85
HP:0002119	HP:0001305	Dandy-Walker malformation	2	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.	85
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0002119	HP:0001305	Dandy-Walker malformation	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0002119	HP:0001305	Dandy-Walker malformation	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0002119	HP:0001305	Dandy-Walker malformation	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002119	HP:0001305	Dandy-Walker malformation	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002119	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:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0002119	HP:0001305	Dandy-Walker malformation	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0002119	HP:0001305	Dandy-Walker malformation	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0002119	HP:0001305	Dandy-Walker malformation	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0002119	HP:0001305	Dandy-Walker malformation	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0002119	HP:0001305	Dandy-Walker malformation	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	33
HP:0002119	HP:0001305	Dandy-Walker malformation	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	114
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0002119	HP:0001305	Dandy-Walker malformation	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0002119	HP:0001305	Dandy-Walker malformation	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0002119	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:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0002119	HP:0001305	Dandy-Walker malformation	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0002119	HP:0001305	Dandy-Walker malformation	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002119	HP:0001305	Dandy-Walker malformation	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	91
HP:0002119	HP:0001305	Dandy-Walker malformation	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002119	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:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002119	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:0002119	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:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0002119	HP:0001305	Dandy-Walker malformation	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0002119	HP:0001305	Dandy-Walker malformation	2	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0002119	HP:0001305	Dandy-Walker malformation	2	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040283 - Occasional	92
HP:0002119	HP:0001305	Dandy-Walker malformation	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0002119	HP:0001305	Dandy-Walker malformation	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0002119	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:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0002119	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:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0002119	HP:0001305	Dandy-Walker malformation	2	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002119	HP:0001305	Dandy-Walker malformation	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002119	HP:0001305	Dandy-Walker malformation	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	270
HP:0002119	HP:0001305	Dandy-Walker malformation	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0002119	HP:0001305	Dandy-Walker malformation	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0002119	HP:0001305	Dandy-Walker malformation	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002119	HP:0001305	Dandy-Walker malformation	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional
HP:0002119	HP:0001305	Dandy-Walker malformation	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	113
HP:0002119	HP:0001305	Dandy-Walker malformation	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	9
HP:0002119	HP:0001305	Dandy-Walker malformation	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	730
HP:0002119	HP:0001305	Dandy-Walker malformation	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	1
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	167
HP:0002119	HP:0001305	Dandy-Walker malformation	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	196
HP:0002119	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:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0002119	HP:0001305	Dandy-Walker malformation	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0002119	HP:0001305	Dandy-Walker malformation	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0002119	HP:0001305	Dandy-Walker malformation	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0002119	HP:0001305	Dandy-Walker malformation	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0002119	HP:0001305	Dandy-Walker malformation	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002119	HP:0001305	Dandy-Walker malformation	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	72
HP:0002119	HP:0001305	Dandy-Walker malformation	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0002119	HP:0001305	Dandy-Walker malformation	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	HP:0040283 - Occasional	157
HP:0002119	HP:0001305	Dandy-Walker malformation	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	102
HP:0002119	HP:0001305	Dandy-Walker malformation	2	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0002119	HP:0001305	Dandy-Walker malformation	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0002119	HP:0001305	Dandy-Walker malformation	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0002119	HP:0001305	Dandy-Walker malformation	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0002119	HP:0001305	Dandy-Walker malformation	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0002119	HP:0001305	Dandy-Walker malformation	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0002119	HP:0001305	Dandy-Walker malformation	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002119	HP:0001305	Dandy-Walker malformation	2	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional	11
HP:0002119	HP:0001305	Dandy-Walker malformation	2	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0002119	HP:0001305	Dandy-Walker malformation	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0002119	HP:0001305	Dandy-Walker malformation	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002119	HP:0001305	Dandy-Walker malformation	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0002119	HP:0001305	Dandy-Walker malformation	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0002119	HP:0001305	Dandy-Walker malformation	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	73
HP:0002119	HP:0001305	Dandy-Walker malformation	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0002119	HP:0001305	Dandy-Walker malformation	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0002119	HP:0001305	Dandy-Walker malformation	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0002119	HP:0001305	Dandy-Walker malformation	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	2
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0002119	HP:0001305	Dandy-Walker malformation	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	HP:0040283 - Occasional	271
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	HP:0040283 - Occasional	45
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0002119	HP:0001305	Dandy-Walker malformation	2	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	106
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0002119	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:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002119	HP:0001305	Dandy-Walker malformation	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	83
HP:0002119	HP:0001305	Dandy-Walker malformation	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0002119	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:0002119	HP:0001305	Dandy-Walker malformation	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	HP:0040283 - Occasional	14
HP:0002119	HP:0001305	Dandy-Walker malformation	2	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.	27
HP:0002119	HP:0001305	Dandy-Walker malformation	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional	5
HP:0002119	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