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:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ACP5 CL E G H	54	124	ORPHA:1855	Spondyloenchondrodysplasia	HP:0040283 - Occasional	16
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ALG13 CL E G H	79868	30881	ORPHA:324422	ALG13-CDG	HP:0040283 - Occasional	96
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG		46
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome		102
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66		1
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ATP6AP2 CL E G H	10159	18305	ORPHA:363654	X-linked parkinsonism-spasticity syndrome		36
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	CLCN3 CL E G H	1182	2021	OMIM:619517	NEURODEVELOPMENTAL DISORDER WITH SEIZURES AND BRAIN ABNORMALITIES; NEDSBA		2
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG		79
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7		6
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1		102
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	DCX CL E G H	1641	2714	ORPHA:2148	Lissencephaly type 1 due to doublecortin gene mutation		145
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome		36
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome		81
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I		157
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I		115
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	GFM2 CL E G H	84340	29682	ORPHA:565624	Combined oxidative phosphorylation defect type 39		43
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria		108
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions		126
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7		11
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome		141
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome		3
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	KIAA0753 CL E G H	9851	29110	OMIM:619479	SHORT-RIB THORACIC DYSPLASIA 21 WITHOUT POLYDACTYLY; SRTD21		4
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	KIDINS220 CL E G H	57498	29508	OMIM:617296	SPASTIC PARAPLEGIA, INTELLECTUAL DISABILITY, NYSTAGMUS, AND OBESITY; SINO		4
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	LIPT2 CL E G H	387787	37216	OMIM:617668	Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities		2
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	LONP1 CL E G H	9361	9479	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		8
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	MED25 CL E G H	81857	28845	ORPHA:464738	Basel-Vanagaite-Smirin-Yosef syndrome		43
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies		29
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome		2
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4		96
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	NDUFB11 CL E G H	54539	20372	OMIM:300952	Linear skin defects with multiple congenital anomalies 3		3
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7		3
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	NEK1 CL E G H	4750	7744	OMIM:263520	Short-Rib thoracic dysplasia 6 with or without polydactyly		101
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome		40
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ODC1 CL E G H	4953	8109	ORPHA:544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome		1
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	PDHA1 CL E G H	5160	8806	ORPHA:79243	Pyruvate dehydrogenase E1-alpha deficiency		88
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)		75
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	PIGG CL E G H	54872	25985	ORPHA:488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	HP:0040282 - Frequent	7
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	PPP2R5D CL E G H	5528	9312	ORPHA:457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome		10
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	PSAT1 CL E G H	29968	19129	ORPHA:284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form		27
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	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:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	PUS3 CL E G H	83480	25461	ORPHA:488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome		1
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	SNRPN CL E G H	6638	11164	ORPHA:177907	Prader-Willi syndrome due to translocation		37
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	SON CL E G H	6651	11183	ORPHA:500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome		12
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	SPG11 CL E G H	80208	11226	ORPHA:2822	Autosomal recessive spastic paraplegia type 11		287
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	TAOK1 CL E G H	57551	29259	OMIM:619575	DEVELOPMENTAL DELAY WITH OR WITHOUT INTELLECTUAL IMPAIRMENT OR BEHAVIORAL ABNORMALITIES; DDIB
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	TTC5 CL E G H	91875	19274	OMIM:619244	NEURODEVELOPMENTAL DISORDER WITH CEREBRAL ATROPHY AND VARIABLE FACIAL DYSMORPHISM; NEDCAFD
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia		21
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	TUBB2B CL E G H	347733	30829	ORPHA:300573	Polymicrogyria due to TUBB2B mutation		39
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	TUBB3 CL E G H	10381	20772	ORPHA:300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation		64
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis		130
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	WARS2 CL E G H	10352	12730	ORPHA:572798	WARS2-related combined oxidative phosphorylation defect		2
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0030047	HP:0030047	Abnormal lateral ventricle morphology	0	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	AHI1 CL E G H	54806	21575	OMIM:608629	Joubert syndrome 3		175
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	ALG2 CL E G H	85365	23159	ORPHA:79326	ALG2-CDG	HP:0040283 - Occasional	46
HP:0030047	HP:0030048	Colpocephaly	1	ANKRD11 CL E G H	29123	21316	ORPHA:261250	16q24.3 microdeletion syndrome	HP:0040282 - Frequent	102
HP:0030047	HP:0030048	Colpocephaly	1	ARSI CL E G H	340075	32521	ORPHA:401815	Autosomal recessive spastic paraplegia type 66	HP:0040282 - Frequent	1
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	ASXL3 CL E G H	80816	29357	OMIM:615485	BAINBRIDGE-ROPERS SYNDROME; BRPS		49
HP:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	CCDC174 CL E G H	51244	28033	OMIM:616816	Hypotonia, infantile, with psychomotor retardation		1
HP:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	CLTC CL E G H	1213	2092	OMIM:617854	Mental retardation, autosomal dominant 56		1
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	COG5 CL E G H	10466	14857	ORPHA:263487	COG5-CDG	HP:0040283 - Occasional	79
HP:0030047	HP:0030048	Colpocephaly	1	COX7B CL E G H	1349	2291	OMIM:309801	Microphthalmia, syndromic 7	.	6
HP:0030047	HP:0030048	Colpocephaly	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	D2HGDH CL E G H	728294	28358	OMIM:600721	D-2-Hydroxyglutaric aciduria 1	.	102
HP:0030047	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:0030047	HP:0030048	Colpocephaly	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0030047	HP:0030048	Colpocephaly	1	DHX37 CL E G H	57647	17210	OMIM:618731	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES AND WITH OR WITHOUT VERTEBRAL OR CARDIAC ANOMALIES; NEDBAVC		2
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	DTYMK CL E G H	1841	3061	OMIM:619847
HP:0030047	HP:0030048	Colpocephaly	1	ERMARD CL E G H	55780	21056	ORPHA:75857	6q terminal deletion syndrome	HP:0040281 - Very frequent	36
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	EZH2 CL E G H	2146	3527	OMIM:277590	Weaver syndrome	.	81
HP:0030047	HP:0030048	Colpocephaly	1	FANCI CL E G H	55215	25568	OMIM:609053	Fanconi anemia, complementation group I	.	157
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	FBXW11 CL E G H	23291	13607	OMIM:618914	NEURODEVELOPMENTAL, JAW, EYE, AND DIGITAL SYNDROME; NEDJED
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	GAN CL E G H	8139	4137	OMIM:256850	Giant axonal neuropathy 1, autosomal recessive		121
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	GCDH CL E G H	2639	4189	OMIM:231670	Glutaric acidemia I	.	115
HP:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	GLUL CL E G H	2752	4341	OMIM:610015	GLUTAMINE DEFICIENCY, CONGENITAL		98
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	GRIN1 CL E G H	2902	4584	ORPHA:208447	Bilateral generalized polymicrogyria	HP:0040283 - Occasional	108
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	GRN CL E G H	2896	4601	OMIM:607485	Frontotemporal lobar degeneration with TDP43 inclusions	.	126
HP:0030047	HP:0030048	Colpocephaly	1	HCCS CL E G H	3052	4837	OMIM:309801	Microphthalmia, syndromic 7	.	11
HP:0030047	HP:0030048	Colpocephaly	1	HNRNPH1 CL E G H	3187	5041	OMIM:620083
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	HS6ST2 CL E G H	90161	19133	OMIM:301025	Paganini-Miozzo syndrome	.
HP:0030047	HP:0030048	Colpocephaly	1	KAT6B CL E G H	23522	17582	OMIM:606170	Genitopatellar syndrome	.	141
HP:0030047	HP:0030048	Colpocephaly	1	KDM1A CL E G H	23028	29079	ORPHA:477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	KDM6A CL E G H	7403	12637	OMIM:147920	Kabuki syndrome 1		53
HP:0030047	HP:0030048	Colpocephaly	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0030047	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:0030047	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:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	KLHL15 CL E G H	80311	29347	OMIM:300982	MENTAL RETARDATION, X-LINKED 103; MRX103		3
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	KMT2D CL E G H	8085	7133	OMIM:147920	Kabuki syndrome 1		660
HP:0030047	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:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	MEF2C CL E G H	4208	6996	OMIM:613443	Mental retardation, autosomal dominant 20		132
HP:0030047	HP:0030048	Colpocephaly	1	MPDZ CL E G H	8777	7208	OMIM:615219	Hydrocephalus, congenital, 2, with or without brain or eye anomalies	.	29
HP:0030047	HP:0030048	Colpocephaly	1	NCAPG2 CL E G H	54892	21904	OMIM:618460	Khan-Khan-Katsanis syndrome	.	2
HP:0030047	HP:0030048	Colpocephaly	1	NDE1 CL E G H	54820	17619	OMIM:614019	Lissencephaly 4		96
HP:0030047	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:0030047	HP:0030048	Colpocephaly	1	NDUFB11 CL E G H	54539	20372	OMIM:309801	Microphthalmia, syndromic 7	.	3
HP:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	NFIX CL E G H	4784	7788	ORPHA:420179	Malan overgrowth syndrome	HP:0040283 - Occasional	40
HP:0030047	HP:0030048	Colpocephaly	1	NRCAM CL E G H	4897	7994	OMIM:619833			2
HP:0030047	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:0030047	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:0030047	HP:0030048	Colpocephaly	1	PEX10 CL E G H	5192	8851	OMIM:614870	Peroxisome biogenesis disorder 6A (Zellweger)	.	75
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	PIGA CL E G H	5277	8957	OMIM:300868	Multiple congenital anomalies-hypotonia-seizures syndrome 2		46
HP:0030047	HP:0030048	Colpocephaly	1	PLXNA1 CL E G H	5361	9099	OMIM:619955
HP:0030047	HP:0030048	Colpocephaly	1	PPP1R12A CL E G H	4659	7618	OMIM:618820	GENITOURINARY AND/OR BRAIN MALFORMATION SYNDROME; GUBS
HP:0030047	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:0030047	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:0030047	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:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	RAB3GAP1 CL E G H	22930	17063	OMIM:619420	MARTSOLF SYNDROME 2; MARTS2		90
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0030047	HP:0030048	Colpocephaly	1	RNU4ATAC CL E G H	100151683	34016	OMIM:210710	Microcephalic osteodysplastic primordial dwarfism, type I		15
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	RNU7-1 CL E G H	100147744	34033	OMIM:619487	AICARDI-GOUTIERES SYNDROME 9; AGS9
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	SATB1 CL E G H	6304	10541	OMIM:619229	KOHLSCHUTTER-TONZ SYNDROME-LIKE; KTZSL
HP:0030047	HP:0030048	Colpocephaly	1	SEC31A CL E G H	22872	17052	OMIM:618651	HALPERIN-BIRK SYNDROME; HLBKS
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	SMG9 CL E G H	56006	25763	OMIM:619995			2
HP:0030047	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:0030047	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:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	SPRED2 CL E G H	200734	17722	OMIM:619745	NOONAN SYNDROME 14; NS14
HP:0030047	HP:0030048	Colpocephaly	1	STAG2 CL E G H	10735	11355	OMIM:301043	HOLOPROSENCEPHALY 13, X-LINKED; HPE13		1
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	TMEM147 CL E G H	10430	30414	OMIM:620075
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	TNFRSF11A CL E G H	8792	11908	OMIM:612301	OSTEOPETROSIS, AUTOSOMAL RECESSIVE 7; OPTB7		72
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	TTC26 CL E G H	79989	21882	OMIM:619534	BILIARY, RENAL, NEUROLOGIC, AND SKELETAL SYNDROME; BRENS
HP:0030047	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:0030047	HP:0030048	Colpocephaly	1	TUBA8 CL E G H	51807	12410	ORPHA:250972	Polymicrogyria with optic nerve hypoplasia	HP:0040281 - Very frequent	21
HP:0030047	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:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	TYROBP CL E G H	7305	12449	OMIM:221770	Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy		22
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	USP18 CL E G H	11274	12616	OMIM:617397	Pseudo-Torch syndrome 2		2
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	VPS13A CL E G H	23230	1908	ORPHA:2388	Choreoacanthocytosis	HP:0040282 - Frequent	130
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	YIPF5 CL E G H	81555	24877	OMIM:619278	MICROCEPHALY, EPILEPSY, AND DIABETES SYNDROME 2; MEDS2
HP:0030047	HP:0006956	Lateral ventricle dilatation	1	YY1 CL E G H	7528	12856	OMIM:617557	Gabriele-De vries syndrome		7
HP:0030047	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:0030047	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:0030047	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:0030047	HP:0006956	Lateral ventricle dilatation	1	ZIC2 CL E G H	7546	12873	OMIM:609637	Holoprosencephaly 5		34
HP:0030047	HP:0030048	Colpocephaly	1	ZNF148 CL E G H	7707	12933	OMIM:617260	Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies		4
HP:0030047	HP:0030048	Colpocephaly	1	ZNF462 CL E G H	58499	21684	OMIM:618619	WEISS-KRUSZKA SYNDROME; WSKA		4