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:0002693	HP:0002693	Abnormality of the skull base	0	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency		120
HP:0002693	HP:0002693	Abnormality of the skull base	0	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0002693	HP:0002693	Abnormality of the skull base	0	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0002693	HP:0002693	Abnormality of the skull base	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0002693	HP:0002693	Abnormality of the skull base	0	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002693	HP:0002693	Abnormality of the skull base	0	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0002693	HP:0002693	Abnormality of the skull base	0	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy		227
HP:0002693	HP:0002693	Abnormality of the skull base	0	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0002693	HP:0002693	Abnormality of the skull base	0	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina		132
HP:0002693	HP:0002693	Abnormality of the skull base	0	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis		34
HP:0002693	HP:0002693	Abnormality of the skull base	0	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant		164
HP:0002693	HP:0002693	Abnormality of the skull base	0	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0002693	HP:0002693	Abnormality of the skull base	0	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0002693	HP:0002693	Abnormality of the skull base	0	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0002693	HP:0002693	Abnormality of the skull base	0	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002693	HP:0002693	Abnormality of the skull base	0	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0002693	HP:0002693	Abnormality of the skull base	0	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002693	HP:0002693	Abnormality of the skull base	0	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0002693	HP:0002693	Abnormality of the skull base	0	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002693	HP:0002693	Abnormality of the skull base	0	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0002693	HP:0002693	Abnormality of the skull base	0	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0002693	HP:0002693	Abnormality of the skull base	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0002693	HP:0002693	Abnormality of the skull base	0	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0002693	HP:0002693	Abnormality of the skull base	0	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0002693	HP:0002693	Abnormality of the skull base	0	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0002693	HP:0002693	Abnormality of the skull base	0	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0002693	HP:0002693	Abnormality of the skull base	0	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0002693	HP:0002693	Abnormality of the skull base	0	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0002693	HP:0002693	Abnormality of the skull base	0	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0002693	HP:0002693	Abnormality of the skull base	0	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0002693	HP:0002693	Abnormality of the skull base	0	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0002693	HP:0002693	Abnormality of the skull base	0	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0002693	HP:0002693	Abnormality of the skull base	0	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0002693	HP:0002693	Abnormality of the skull base	0	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0002693	HP:0002693	Abnormality of the skull base	0	B9D1 CL E G H	27077	24123	OMIM:614209	Meckel syndrome, type 9		28
HP:0002693	HP:0002693	Abnormality of the skull base	0	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0002693	HP:0002693	Abnormality of the skull base	0	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002693	HP:0002693	Abnormality of the skull base	0	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0002693	HP:0002693	Abnormality of the skull base	0	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002693	HP:0002693	Abnormality of the skull base	0	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0002693	HP:0002693	Abnormality of the skull base	0	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0002693	HP:0002693	Abnormality of the skull base	0	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0002693	HP:0002693	Abnormality of the skull base	0	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0002693	HP:0002693	Abnormality of the skull base	0	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002693	HP:0002693	Abnormality of the skull base	0	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0002693	HP:0002693	Abnormality of the skull base	0	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0002693	HP:0002693	Abnormality of the skull base	0	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0002693	HP:0002693	Abnormality of the skull base	0	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0002693	HP:0002693	Abnormality of the skull base	0	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0002693	HP:0002693	Abnormality of the skull base	0	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0002693	HP:0002693	Abnormality of the skull base	0	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0002693	HP:0002693	Abnormality of the skull base	0	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002693	HP:0002693	Abnormality of the skull base	0	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0002693	HP:0002693	Abnormality of the skull base	0	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0002693	HP:0002693	Abnormality of the skull base	0	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0002693	HP:0002693	Abnormality of the skull base	0	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002693	HP:0002693	Abnormality of the skull base	0	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0002693	HP:0002693	Abnormality of the skull base	0	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0002693	HP:0002693	Abnormality of the skull base	0	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0002693	HP:0002693	Abnormality of the skull base	0	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0002693	HP:0002693	Abnormality of the skull base	0	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0002693	HP:0002693	Abnormality of the skull base	0	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0002693	HP:0002693	Abnormality of the skull base	0	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0002693	HP:0002693	Abnormality of the skull base	0	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002693	HP:0002693	Abnormality of the skull base	0	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0002693	HP:0002693	Abnormality of the skull base	0	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		291
HP:0002693	HP:0002693	Abnormality of the skull base	0	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations		291
HP:0002693	HP:0002693	Abnormality of the skull base	0	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0002693	HP:0002693	Abnormality of the skull base	0	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0002693	HP:0002693	Abnormality of the skull base	0	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002693	HP:0002693	Abnormality of the skull base	0	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0002693	HP:0002693	Abnormality of the skull base	0	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0002693	HP:0002693	Abnormality of the skull base	0	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0002693	HP:0002693	Abnormality of the skull base	0	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0002693	HP:0002693	Abnormality of the skull base	0	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0002693	HP:0002693	Abnormality of the skull base	0	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0002693	HP:0002693	Abnormality of the skull base	0	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002693	HP:0002693	Abnormality of the skull base	0	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0002693	HP:0002693	Abnormality of the skull base	0	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002693	HP:0002693	Abnormality of the skull base	0	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0002693	HP:0002693	Abnormality of the skull base	0	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002693	HP:0002693	Abnormality of the skull base	0	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0002693	HP:0002693	Abnormality of the skull base	0	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0002693	HP:0002693	Abnormality of the skull base	0	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002693	HP:0002693	Abnormality of the skull base	0	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002693	HP:0002693	Abnormality of the skull base	0	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0002693	HP:0002693	Abnormality of the skull base	0	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002693	HP:0002693	Abnormality of the skull base	0	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002693	HP:0002693	Abnormality of the skull base	0	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0002693	HP:0002693	Abnormality of the skull base	0	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0002693	HP:0002693	Abnormality of the skull base	0	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0002693	HP:0002693	Abnormality of the skull base	0	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0002693	HP:0002693	Abnormality of the skull base	0	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency		250
HP:0002693	HP:0002693	Abnormality of the skull base	0	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0002693	HP:0002693	Abnormality of the skull base	0	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0002693	HP:0002693	Abnormality of the skull base	0	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0002693	HP:0002693	Abnormality of the skull base	0	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0002693	HP:0002693	Abnormality of the skull base	0	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0002693	HP:0002693	Abnormality of the skull base	0	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0002693	HP:0002693	Abnormality of the skull base	0	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0002693	HP:0002693	Abnormality of the skull base	0	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0002693	HP:0002693	Abnormality of the skull base	0	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002693	HP:0002693	Abnormality of the skull base	0	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0002693	HP:0002693	Abnormality of the skull base	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0002693	HP:0002693	Abnormality of the skull base	0	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0002693	HP:0002693	Abnormality of the skull base	0	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0002693	HP:0002693	Abnormality of the skull base	0	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0002693	HP:0002693	Abnormality of the skull base	0	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0002693	HP:0002693	Abnormality of the skull base	0	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0002693	HP:0002693	Abnormality of the skull base	0	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia		493
HP:0002693	HP:0002693	Abnormality of the skull base	0	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I		493
HP:0002693	HP:0002693	Abnormality of the skull base	0	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0002693	HP:0002693	Abnormality of the skull base	0	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I		233
HP:0002693	HP:0002693	Abnormality of the skull base	0	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0002693	HP:0002693	Abnormality of the skull base	0	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0002693	HP:0002693	Abnormality of the skull base	0	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0002693	HP:0002693	Abnormality of the skull base	0	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0002693	HP:0002693	Abnormality of the skull base	0	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0002693	HP:0002693	Abnormality of the skull base	0	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002693	HP:0002693	Abnormality of the skull base	0	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002693	HP:0002693	Abnormality of the skull base	0	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0002693	HP:0002693	Abnormality of the skull base	0	GNAS CL E G H	2778	4392	ORPHA:562	McCune-Albright syndrome	HP:0040282 - Frequent	101
HP:0002693	HP:0002693	Abnormality of the skull base	0	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0002693	HP:0002693	Abnormality of the skull base	0	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002693	HP:0002693	Abnormality of the skull base	0	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002693	HP:0002693	Abnormality of the skull base	0	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002693	HP:0002693	Abnormality of the skull base	0	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0002693	HP:0002693	Abnormality of the skull base	0	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002693	HP:0002693	Abnormality of the skull base	0	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0002693	HP:0002693	Abnormality of the skull base	0	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0002693	HP:0002693	Abnormality of the skull base	0	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002693	HP:0002693	Abnormality of the skull base	0	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0002693	HP:0002693	Abnormality of the skull base	0	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0002693	HP:0002693	Abnormality of the skull base	0	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0002693	HP:0002693	Abnormality of the skull base	0	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0002693	HP:0002693	Abnormality of the skull base	0	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0002693	HP:0002693	Abnormality of the skull base	0	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0002693	HP:0002693	Abnormality of the skull base	0	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0002693	HP:0002693	Abnormality of the skull base	0	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0002693	HP:0002693	Abnormality of the skull base	0	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0002693	HP:0002693	Abnormality of the skull base	0	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0002693	HP:0002693	Abnormality of the skull base	0	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0002693	HP:0002693	Abnormality of the skull base	0	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0002693	HP:0002693	Abnormality of the skull base	0	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia		11
HP:0002693	HP:0002693	Abnormality of the skull base	0	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0002693	HP:0002693	Abnormality of the skull base	0	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0002693	HP:0002693	Abnormality of the skull base	0	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14		1
HP:0002693	HP:0002693	Abnormality of the skull base	0	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0002693	HP:0002693	Abnormality of the skull base	0	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0002693	HP:0002693	Abnormality of the skull base	0	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0002693	HP:0002693	Abnormality of the skull base	0	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0002693	HP:0002693	Abnormality of the skull base	0	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina		45
HP:0002693	HP:0002693	Abnormality of the skull base	0	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002693	HP:0002693	Abnormality of the skull base	0	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0002693	HP:0002693	Abnormality of the skull base	0	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0002693	HP:0002693	Abnormality of the skull base	0	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0002693	HP:0002693	Abnormality of the skull base	0	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002693	HP:0002693	Abnormality of the skull base	0	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0002693	HP:0002693	Abnormality of the skull base	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0002693	HP:0002693	Abnormality of the skull base	0	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome		144
HP:0002693	HP:0002693	Abnormality of the skull base	0	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002693	HP:0002693	Abnormality of the skull base	0	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0002693	HP:0002693	Abnormality of the skull base	0	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0002693	HP:0002693	Abnormality of the skull base	0	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0002693	HP:0002693	Abnormality of the skull base	0	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0002693	HP:0002693	Abnormality of the skull base	0	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0002693	HP:0002693	Abnormality of the skull base	0	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0002693	HP:0002693	Abnormality of the skull base	0	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0002693	HP:0002693	Abnormality of the skull base	0	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0002693	HP:0002693	Abnormality of the skull base	0	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0002693	HP:0002693	Abnormality of the skull base	0	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0002693	HP:0002693	Abnormality of the skull base	0	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0002693	HP:0002693	Abnormality of the skull base	0	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0002693	HP:0002693	Abnormality of the skull base	0	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0002693	HP:0002693	Abnormality of the skull base	0	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0002693	HP:0002693	Abnormality of the skull base	0	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0002693	HP:0002693	Abnormality of the skull base	0	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome		37
HP:0002693	HP:0002693	Abnormality of the skull base	0	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002693	HP:0002693	Abnormality of the skull base	0	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0002693	HP:0002693	Abnormality of the skull base	0	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002693	HP:0002693	Abnormality of the skull base	0	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0002693	HP:0002693	Abnormality of the skull base	0	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0002693	HP:0002693	Abnormality of the skull base	0	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy		6
HP:0002693	HP:0002693	Abnormality of the skull base	0	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002693	HP:0002693	Abnormality of the skull base	0	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0002693	HP:0002693	Abnormality of the skull base	0	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3		7
HP:0002693	HP:0002693	Abnormality of the skull base	0	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0002693	HP:0002693	Abnormality of the skull base	0	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002693	HP:0002693	Abnormality of the skull base	0	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002693	HP:0002693	Abnormality of the skull base	0	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0002693	HP:0002693	Abnormality of the skull base	0	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0002693	HP:0002693	Abnormality of the skull base	0	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0002693	HP:0002693	Abnormality of the skull base	0	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0002693	HP:0002693	Abnormality of the skull base	0	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0002693	HP:0002693	Abnormality of the skull base	0	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0002693	HP:0002693	Abnormality of the skull base	0	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0002693	HP:0002693	Abnormality of the skull base	0	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0002693	HP:0002693	Abnormality of the skull base	0	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0002693	HP:0002693	Abnormality of the skull base	0	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002693	HP:0002693	Abnormality of the skull base	0	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002693	HP:0002693	Abnormality of the skull base	0	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0002693	HP:0002693	Abnormality of the skull base	0	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0002693	HP:0002693	Abnormality of the skull base	0	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type		58
HP:0002693	HP:0002693	Abnormality of the skull base	0	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0002693	HP:0002693	Abnormality of the skull base	0	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0002693	HP:0002693	Abnormality of the skull base	0	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002693	HP:0002693	Abnormality of the skull base	0	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0002693	HP:0002693	Abnormality of the skull base	0	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0002693	HP:0002693	Abnormality of the skull base	0	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG		92
HP:0002693	HP:0002693	Abnormality of the skull base	0	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0002693	HP:0002693	Abnormality of the skull base	0	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0002693	HP:0002693	Abnormality of the skull base	0	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0002693	HP:0002693	Abnormality of the skull base	0	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
HP:0002693	HP:0002693	Abnormality of the skull base	0	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0002693	HP:0002693	Abnormality of the skull base	0	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0002693	HP:0002693	Abnormality of the skull base	0	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome		143
HP:0002693	HP:0002693	Abnormality of the skull base	0	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome		143
HP:0002693	HP:0002693	Abnormality of the skull base	0	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0002693	HP:0002693	Abnormality of the skull base	0	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0002693	HP:0002693	Abnormality of the skull base	0	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0002693	HP:0002693	Abnormality of the skull base	0	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type
HP:0002693	HP:0002693	Abnormality of the skull base	0	SIX2 CL E G H	10736	10888	ORPHA:488437	SIX2-related frontonasal dysplasia	HP:0040282 - Frequent	2
HP:0002693	HP:0002693	Abnormality of the skull base	0	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0002693	HP:0002693	Abnormality of the skull base	0	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0002693	HP:0002693	Abnormality of the skull base	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0002693	HP:0002693	Abnormality of the skull base	0	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0002693	HP:0002693	Abnormality of the skull base	0	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0002693	HP:0002693	Abnormality of the skull base	0	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002693	HP:0002693	Abnormality of the skull base	0	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0002693	HP:0002693	Abnormality of the skull base	0	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0002693	HP:0002693	Abnormality of the skull base	0	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002693	HP:0002693	Abnormality of the skull base	0	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0002693	HP:0002693	Abnormality of the skull base	0	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0002693	HP:0002693	Abnormality of the skull base	0	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002693	HP:0002693	Abnormality of the skull base	0	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0002693	HP:0002693	Abnormality of the skull base	0	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0002693	HP:0002693	Abnormality of the skull base	0	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency		24
HP:0002693	HP:0002693	Abnormality of the skull base	0	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002693	HP:0002693	Abnormality of the skull base	0	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0002693	HP:0002693	Abnormality of the skull base	0	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0002693	HP:0002693	Abnormality of the skull base	0	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0002693	HP:0002693	Abnormality of the skull base	0	TBX15 CL E G H	6913	11594	ORPHA:93333	Pelviscapular dysplasia	HP:0040281 - Very frequent	5
HP:0002693	HP:0002693	Abnormality of the skull base	0	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0002693	HP:0002693	Abnormality of the skull base	0	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0002693	HP:0002693	Abnormality of the skull base	0	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0002693	HP:0002693	Abnormality of the skull base	0	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0002693	HP:0002693	Abnormality of the skull base	0	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0002693	HP:0002693	Abnormality of the skull base	0	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0002693	HP:0002693	Abnormality of the skull base	0	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002693	HP:0002693	Abnormality of the skull base	0	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0002693	HP:0002693	Abnormality of the skull base	0	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0002693	HP:0002693	Abnormality of the skull base	0	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0002693	HP:0002693	Abnormality of the skull base	0	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0002693	HP:0002693	Abnormality of the skull base	0	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0002693	HP:0002693	Abnormality of the skull base	0	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0002693	HP:0002693	Abnormality of the skull base	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0002693	HP:0002693	Abnormality of the skull base	0	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0002693	HP:0002693	Abnormality of the skull base	0	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0002693	HP:0002693	Abnormality of the skull base	0	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0002693	HP:0002693	Abnormality of the skull base	0	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0002693	HP:0002693	Abnormality of the skull base	0	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0002693	HP:0002693	Abnormality of the skull base	0	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0002693	HP:0002693	Abnormality of the skull base	0	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0002693	HP:0002693	Abnormality of the skull base	0	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002693	HP:0002693	Abnormality of the skull base	0	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0002693	HP:0002693	Abnormality of the skull base	0	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002693	HP:0002693	Abnormality of the skull base	0	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0002693	HP:0002693	Abnormality of the skull base	0	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0002693	HP:0002693	Abnormality of the skull base	0	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0002693	HP:0002693	Abnormality of the skull base	0	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0002693	HP:0002693	Abnormality of the skull base	0	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0002693	HP:0002693	Abnormality of the skull base	0	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0002693	HP:0002693	Abnormality of the skull base	0	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0002693	HP:0002693	Abnormality of the skull base	0	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0002693	HP:0002693	Abnormality of the skull base	0	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation		362
HP:0002693	HP:0002693	Abnormality of the skull base	0	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22		362
HP:0002693	HP:0002693	Abnormality of the skull base	0	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0002693	HP:0002693	Abnormality of the skull base	0	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0002693	HP:0002693	Abnormality of the skull base	0	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0002693	HP:0000930	Elevated imprint of the transverse sinuses	1	CL E G H
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency		120
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia		254
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0002693	HP:0002694	Sclerosis of skull base	1	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy		227
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ALX4 CL E G H	60529	450	ORPHA:60015	Enlarged parietal foramina	HP:0040283 - Occasional	132
HP:0002693	HP:0002694	Sclerosis of skull base	1	AMER1 CL E G H	139285	26837	OMIM:300373	Osteopathia striata with cranial sclerosis	.	34
HP:0002693	HP:0002694	Sclerosis of skull base	1	ANKH CL E G H	56172	15492	OMIM:123000	Craniometaphyseal dysplasia, autosomal dominant	.	164
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome		38
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	B9D1 CL E G H	27077	24123	OMIM:614209	Meckel syndrome, type 9	.	28
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III		373
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III		243
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	HP:0040283 - Occasional	291
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CREBBP CL E G H	1387	2348	ORPHA:353277	Rubinstein-Taybi syndrome due to CREBBP mutations	HP:0040283 - Occasional	291
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21		57
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I
HP:0002693	HP:0002694	Sclerosis of skull base	1	DLK1 CL E G H	8788	2907	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	EP300 CL E G H	2033	3373	ORPHA:353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	HP:0040283 - Occasional	250
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome		175
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0002693	HP:0002694	Sclerosis of skull base	1	FLNA CL E G H	2316	3754	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	493
HP:0002693	HP:0002737	Thick skull base	1	FLNA CL E G H	2316	3754	OMIM:311300	Otopalatodigital syndrome, type I	.	493
HP:0002693	HP:0002694	Sclerosis of skull base	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I		233
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II		3
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002693	HP:0009752	Cleft in skull base	1	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0002693	HP:0002694	Sclerosis of skull base	1	LBR CL E G H	3930	6518	OMIM:215140	Greenberg dysplasia		70
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0002693	HP:0002694	Sclerosis of skull base	1	MAP3K7 CL E G H	6885	6859	ORPHA:1826	Frontometaphyseal dysplasia	HP:0040282 - Frequent	11
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0002693	HP:0002694	Sclerosis of skull base	1	MEG3 CL E G H	55384	14575	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional	1
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder		532
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MSX2 CL E G H	4488	7392	ORPHA:60015	Enlarged parietal foramina	HP:0040283 - Occasional	45
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome		138
HP:0002693	HP:0002694	Sclerosis of skull base	1	NOTCH3 CL E G H	4854	7883	OMIM:130720	Lateral meningocele syndrome	.	144
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PIGN CL E G H	23556	8967	ORPHA:280633	Multiple congenital anomalies-hypotonia-seizures syndrome	HP:0040283 - Occasional	37
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy		6
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3		7
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0002693	HP:0002694	Sclerosis of skull base	1	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism		6
HP:0002693	HP:0002737	Thick skull base	1	PTH1R CL E G H	5745	9608	OMIM:156400	Metaphyseal chondrodysplasia, Jansen type	.	58
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	RFT1 CL E G H	91869	30220	ORPHA:244310	RFT1-CDG	HP:0040283 - Occasional	92
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0002693	HP:0002694	Sclerosis of skull base	1	RTL1 CL E G H	388015	14665	ORPHA:96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	HP:0040283 - Occasional
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0002693	HP:0002694	Sclerosis of skull base	1	SETBP1 CL E G H	26040	15573	OMIM:269150	Schinzel-Giedion midface-retraction syndrome	.	143
HP:0002693	HP:0002694	Sclerosis of skull base	1	SETBP1 CL E G H	26040	15573	ORPHA:798	Schinzel-Giedion syndrome	HP:0040283 - Occasional	143
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0002693	HP:0002694	Sclerosis of skull base	1	SIK3 CL E G H	23387	29165	OMIM:618162	Spondyloepimetaphyseal dysplasia, Krakow type	.
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency		24
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0002693	HP:0002694	Sclerosis of skull base	1	TGFB1 CL E G H	7040	11766	OMIM:131300	Camurati-Engelmann disease		13
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0002693	HP:0002694	Sclerosis of skull base	1	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0002693	HP:0002694	Sclerosis of skull base	1	TNFRSF11A CL E G H	8792	11908	OMIM:602080	Paget disease of bone 2, early-onset		72
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome		47
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome		17
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	HP:0040283 - Occasional	362
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ZEB2 CL E G H	9839	14881	ORPHA:261537	Mowat-Wilson syndrome due to monosomy 2q22	HP:0040283 - Occasional	362
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0002693	HP:0000932	Abnormal posterior cranial fossa morphology	1	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0002693	HP:0000931	Thinning and bulging of the posterior fossa bones	2	CL E G H
HP:0002693	HP:0040011	Flat posterior fossa	2	CL E G H
HP:0002693	HP:0007291	Posterior fossa cyst	2	ABAT CL E G H	18	23	OMIM:613163	GABA-transaminase deficiency	.	120
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ABCC9 CL E G H	10060	60	OMIM:239850	Hypertrichotic osteochondrodysplasia	.	254
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency		200
HP:0002693	HP:0005445	Enlarged posterior fossa	2	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		89
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy		227
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG		37
HP:0002693	HP:0005445	Enlarged posterior fossa	2	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome		13
HP:0002693	HP:0005445	Enlarged posterior fossa	2	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome		1
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome		88
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome		219
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1		219
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome		25
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome		145
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome		145
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		140
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA		140
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome		140
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		3
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome		5
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type		2
HP:0002693	HP:0005445	Enlarged posterior fossa	2	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome		43
HP:0002693	HP:0012366	Basilar invagination	2	B3GALT6 CL E G H	126792	17978	ORPHA:536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	HP:0040283 - Occasional	38
HP:0002693	HP:0005445	Enlarged posterior fossa	2	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG		85
HP:0002693	HP:0005445	Enlarged posterior fossa	2	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID		85
HP:0002693	HP:0005445	Enlarged posterior fossa	2	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13		17
HP:0002693	HP:0005445	Enlarged posterior fossa	2	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome		17
HP:0002693	HP:0005445	Enlarged posterior fossa	2	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome		28
HP:0002693	HP:0005445	Enlarged posterior fossa	2	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome		34
HP:0002693	HP:0005445	Enlarged posterior fossa	2	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002693	HP:0005445	Enlarged posterior fossa	2	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0002693	HP:0005445	Enlarged posterior fossa	2	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002693	HP:0005445	Enlarged posterior fossa	2	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome		7
HP:0002693	HP:0005445	Enlarged posterior fossa	2	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0002693	HP:0005445	Enlarged posterior fossa	2	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome		5
HP:0002693	HP:0005445	Enlarged posterior fossa	2	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome		76
HP:0002693	HP:0005445	Enlarged posterior fossa	2	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1		76
HP:0002693	HP:0005445	Enlarged posterior fossa	2	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome
HP:0002693	HP:0005445	Enlarged posterior fossa	2	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14		27
HP:0002693	HP:0005445	Enlarged posterior fossa	2	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV		27
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome		247
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome		33
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2		33
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome		6
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome		114
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly		7
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome		342
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome		17
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome		515
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0002693	HP:0005445	Enlarged posterior fossa	2	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG		52
HP:0002693	HP:0005758	Basilar impression	2	COL1A1 CL E G H	1277	2197	OMIM:259420	Osteogenesis imperfecta, type III	.	373
HP:0002693	HP:0005758	Basilar impression	2	COL1A2 CL E G H	1278	2198	OMIM:259420	Osteogenesis imperfecta, type III	.	243
HP:0002693	HP:0005445	Enlarged posterior fossa	2	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome		193
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form		101
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002693	HP:0007291	Posterior fossa cyst	2	CSPP1 CL E G H	79848	26193	OMIM:615636	Joubert syndrome 21	.	57
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		57
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome		57
HP:0002693	HP:0005445	Enlarged posterior fossa	2	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0002693	HP:0005445	Enlarged posterior fossa	2	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome		108
HP:0002693	HP:0005445	Enlarged posterior fossa	2	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49		6
HP:0002693	HP:0005445	Enlarged posterior fossa	2	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002693	HP:0040010	Small posterior fossa	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040281 - Very frequent
HP:0002693	HP:0010558	Abnormality of the clivus	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040282 - Frequent
HP:0002693	HP:0012366	Basilar invagination	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0002693	HP:0005758	Basilar impression	2	DKK1 CL E G H	22943	2891	ORPHA:268882	Arnold-Chiari malformation type I	HP:0040283 - Occasional
HP:0002693	HP:0005445	Enlarged posterior fossa	2	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence		91
HP:0002693	HP:0005445	Enlarged posterior fossa	2	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome
HP:0002693	HP:0005445	Enlarged posterior fossa	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome		3
HP:0002693	HP:0007291	Posterior fossa cyst	2	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0002693	HP:0005445	Enlarged posterior fossa	2	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair		3
HP:0002693	HP:0005445	Enlarged posterior fossa	2	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002693	HP:0005445	Enlarged posterior fossa	2	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002693	HP:0005445	Enlarged posterior fossa	2	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		304
HP:0002693	HP:0005445	Enlarged posterior fossa	2	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002693	HP:0005445	Enlarged posterior fossa	2	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type
HP:0002693	HP:0005445	Enlarged posterior fossa	2	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant		51
HP:0002693	HP:0005445	Enlarged posterior fossa	2	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome		51
HP:0002693	HP:0005445	Enlarged posterior fossa	2	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome		51
HP:0002693	HP:0005445	Enlarged posterior fossa	2	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0002693	HP:0007291	Posterior fossa cyst	2	ERCC5 CL E G H	2073	3437	OMIM:616570	Cerebrooculofacioskeletal syndrome 3		83
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome		92
HP:0002693	HP:0005445	Enlarged posterior fossa	2	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome		209
HP:0002693	HP:0005445	Enlarged posterior fossa	2	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome		137
HP:0002693	HP:0005445	Enlarged posterior fossa	2	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A		7
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency		7
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis		172
HP:0002693	HP:0007291	Posterior fossa cyst	2	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0002693	HP:0007291	Posterior fossa cyst	2	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	157
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5		157
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome		157
HP:0002693	HP:0007291	Posterior fossa cyst	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	184
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome		184
HP:0002693	HP:0010558	Abnormality of the clivus	2	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II		493
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I		233
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome		47
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3		63
HP:0002693	HP:0005445	Enlarged posterior fossa	2	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath		70
HP:0002693	HP:0040010	Small posterior fossa	2	FUZ CL E G H	80199	26219	ORPHA:1136	Arnold-Chiari malformation type II	HP:0040283 - Occasional	3
HP:0002693	HP:0007291	Posterior fossa cyst	2	GDF6 CL E G H	392255	4221	OMIM:118100	Klippel-Feil syndrome 1, autosomal dominant		64
HP:0002693	HP:0005445	Enlarged posterior fossa	2	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002693	HP:0005445	Enlarged posterior fossa	2	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002693	HP:0005445	Enlarged posterior fossa	2	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome		270
HP:0002693	HP:0005445	Enlarged posterior fossa	2	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome		73
HP:0002693	HP:0005445	Enlarged posterior fossa	2	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome
HP:0002693	HP:0005445	Enlarged posterior fossa	2	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002693	HP:0005445	Enlarged posterior fossa	2	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome
HP:0002693	HP:0005445	Enlarged posterior fossa	2	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome		113
HP:0002693	HP:0005445	Enlarged posterior fossa	2	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1		31
HP:0002693	HP:0005445	Enlarged posterior fossa	2	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		65
HP:0002693	HP:0005445	Enlarged posterior fossa	2	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome		9
HP:0002693	HP:0005445	Enlarged posterior fossa	2	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002693	HP:0005445	Enlarged posterior fossa	2	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0002693	HP:0005445	Enlarged posterior fossa	2	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome		730
HP:0002693	HP:0005445	Enlarged posterior fossa	2	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome		1
HP:0002693	HP:0005445	Enlarged posterior fossa	2	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy		24
HP:0002693	HP:0005445	Enlarged posterior fossa	2	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome		167
HP:0002693	HP:0005445	Enlarged posterior fossa	2	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome		196
HP:0002693	HP:0005445	Enlarged posterior fossa	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0002693	HP:0007291	Posterior fossa cyst	2	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	136
HP:0002693	HP:0005445	Enlarged posterior fossa	2	LARGE1 CL E G H	9215	6511	OMIM:613154	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6		136
HP:0002693	HP:0005445	Enlarged posterior fossa	2	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome		136
HP:0002693	HP:0005445	Enlarged posterior fossa	2	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome
HP:0002693	HP:0005445	Enlarged posterior fossa	2	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0002693	HP:0005445	Enlarged posterior fossa	2	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0002693	HP:0005445	Enlarged posterior fossa	2	MBD5 CL E G H	55777	20444	OMIM:156200	Mental retardation, autosomal dominant 1		252
HP:0002693	HP:0005445	Enlarged posterior fossa	2	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome		57
HP:0002693	HP:0005445	Enlarged posterior fossa	2	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome		127
HP:0002693	HP:0005445	Enlarged posterior fossa	2	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1		127
HP:0002693	HP:0040010	Small posterior fossa	2	MRE11 CL E G H	4361	7230	ORPHA:251347	Ataxia-telangiectasia-like disorder	HP:0040283 - Occasional	532
HP:0002693	HP:0005445	Enlarged posterior fossa	2	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002693	HP:0005445	Enlarged posterior fossa	2	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence		72
HP:0002693	HP:0012366	Basilar invagination	2	MYF5 CL E G H	4617	7565	OMIM:618155	Ophthalmoplegia, external, with rib and vertebral anomalies	HP:0040284 - Very rare
HP:0002693	HP:0005445	Enlarged posterior fossa	2	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence
HP:0002693	HP:0005445	Enlarged posterior fossa	2	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002693	HP:0005445	Enlarged posterior fossa	2	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0002693	HP:0005758	Basilar impression	2	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138
HP:0002693	HP:0005445	Enlarged posterior fossa	2	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002693	HP:0005445	Enlarged posterior fossa	2	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome		157
HP:0002693	HP:0005445	Enlarged posterior fossa	2	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia		157
HP:0002693	HP:0005445	Enlarged posterior fossa	2	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome		102
HP:0002693	HP:0005445	Enlarged posterior fossa	2	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic		102
HP:0002693	HP:0005445	Enlarged posterior fossa	2	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome		544
HP:0002693	HP:0005445	Enlarged posterior fossa	2	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0002693	HP:0005445	Enlarged posterior fossa	2	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence
HP:0002693	HP:0005445	Enlarged posterior fossa	2	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10		201
HP:0002693	HP:0005445	Enlarged posterior fossa	2	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1		201
HP:0002693	HP:0005445	Enlarged posterior fossa	2	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0002693	HP:0005445	Enlarged posterior fossa	2	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome		55
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome		37
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome		77
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome		37
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002693	HP:0007291	Posterior fossa cyst	2	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia		11
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included		11
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy		6
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG		150
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3		7
HP:0002693	HP:0005445	Enlarged posterior fossa	2	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome		35
HP:0002693	HP:0005445	Enlarged posterior fossa	2	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002693	HP:0005445	Enlarged posterior fossa	2	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome		138
HP:0002693	HP:0005445	Enlarged posterior fossa	2	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome		180
HP:0002693	HP:0005445	Enlarged posterior fossa	2	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome		33
HP:0002693	HP:0005445	Enlarged posterior fossa	2	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0002693	HP:0005445	Enlarged posterior fossa	2	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome		18
HP:0002693	HP:0007291	Posterior fossa cyst	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	213
HP:0002693	HP:0005445	Enlarged posterior fossa	2	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0002693	HP:0005445	Enlarged posterior fossa	2	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1		213
HP:0002693	HP:0005445	Enlarged posterior fossa	2	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome		213
HP:0002693	HP:0005445	Enlarged posterior fossa	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0002693	HP:0007291	Posterior fossa cyst	2	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1	.	221
HP:0002693	HP:0005445	Enlarged posterior fossa	2	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome		221
HP:0002693	HP:0033140	Blake's pouch cyst	2	PPFIBP1 CL E G H	8496	9249	OMIM:620024
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002693	HP:0005445	Enlarged posterior fossa	2	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0002693	HP:0005477	Progressive sclerosis of skull base	2	PTDSS1 CL E G H	9791	9587	OMIM:151050	Lenz-Majewski hyperostotic dwarfism	.	6
HP:0002693	HP:0007291	Posterior fossa cyst	2	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome		19
HP:0002693	HP:0005445	Enlarged posterior fossa	2	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0002693	HP:0005445	Enlarged posterior fossa	2	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002693	HP:0005445	Enlarged posterior fossa	2	RAC1 CL E G H	5879	9801	ORPHA:500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom		3
HP:0002693	HP:0005445	Enlarged posterior fossa	2	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence		73
HP:0002693	HP:0005445	Enlarged posterior fossa	2	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive		3
HP:0002693	HP:0005445	Enlarged posterior fossa	2	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome		109
HP:0002693	HP:0005445	Enlarged posterior fossa	2	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome		167
HP:0002693	HP:0005445	Enlarged posterior fossa	2	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome		16
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome		60
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence		2
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG		27
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome		617
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome		87
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome		1
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome		47
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5		47
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002693	HP:0007291	Posterior fossa cyst	2	SNORD118 CL E G H	727676	32952	ORPHA:542310	Leukoencephalopathy with calcifications and cysts		6
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome		14
HP:0002693	HP:0040010	Small posterior fossa	2	SOX3 CL E G H	6658	11199	ORPHA:67045	X-linked intellectual disability with isolated growth hormone deficiency	HP:0040283 - Occasional	24
HP:0002693	HP:0005445	Enlarged posterior fossa	2	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome
HP:0002693	HP:0040010	Small posterior fossa	2	TAF8 CL E G H	129685	17300	OMIM:619972
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome		271
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome		271
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome		45
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome		76
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome		31
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome		4
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome		45
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2		45
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome		33
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3		33
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14		82
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome		82
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome		166
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome		2
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence		106
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1		14
HP:0002693	HP:0005445	Enlarged posterior fossa	2	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome		2
HP:0002693	HP:0005445	Enlarged posterior fossa	2	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002693	HP:0005445	Enlarged posterior fossa	2	USP9X CL E G H	8239	12632	ORPHA:480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability		27
HP:0002693	HP:0005445	Enlarged posterior fossa	2	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002693	HP:0005445	Enlarged posterior fossa	2	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0002693	HP:0007291	Posterior fossa cyst	2	VSX1 CL E G H	30813	12723	OMIM:614195	Craniofacial anomalies and anterior segment dysgenesis syndrome	.	47
HP:0002693	HP:0005445	Enlarged posterior fossa	2	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome		83
HP:0002693	HP:0007291	Posterior fossa cyst	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0002693	HP:0005445	Enlarged posterior fossa	2	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1		83
HP:0002693	HP:0005445	Enlarged posterior fossa	2	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type		136
HP:0002693	HP:0005445	Enlarged posterior fossa	2	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1		14
HP:0002693	HP:0005445	Enlarged posterior fossa	2	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies		27
HP:0002693	HP:0005758	Basilar impression	2	ZBTB20 CL E G H	26137	13503	OMIM:259050	Primrose syndrome	.	17
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6		5
HP:0002693	HP:0005445	Enlarged posterior fossa	2	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0002693	HP:0010558	Abnormality of the clivus	2	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis		5
HP:0002693	HP:0005759	Small flat posterior fossa	3	CL E G H
HP:0002693	HP:0000933	Posterior fossa cyst at the fourth ventricle	3	CL E G H
HP:0002693	HP:0002280	Enlarged cisterna magna	3	ACADVL CL E G H	37	92	ORPHA:26793	Very long chain acyl-CoA dehydrogenase deficiency	HP:0040284 - Very rare	200
HP:0002693	HP:0002280	Enlarged cisterna magna	3	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002693	HP:0001305	Dandy-Walker malformation	3	AFF3 CL E G H	3899	6473	OMIM:619297	KINSSHIP SYNDROME; KINS		1
HP:0002693	HP:0002280	Enlarged cisterna magna	3	ALDH18A1 CL E G H	5832	9722	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	89
HP:0002693	HP:0002280	Enlarged cisterna magna	3	ALDH7A1 CL E G H	501	877	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	227
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ALG3 CL E G H	10195	23056	ORPHA:79321	ALG3-CDG	HP:0040284 - Very rare	37
HP:0002693	HP:0001305	Dandy-Walker malformation	3	AP1S2 CL E G H	8905	560	OMIM:304340	Pettigrew syndrome	HP:0040283 - Occasional	13
HP:0002693	HP:0002280	Enlarged cisterna magna	3	APC2 CL E G H	10297	24036	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	1
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ARID1A CL E G H	8289	11110	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	88
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ARID1A CL E G H	8289	11110	OMIM:614607	Coffin-Siris syndrome 2		88
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ARID1B CL E G H	57492	18040	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	219
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ARID1B CL E G H	57492	18040	OMIM:135900	Coffin-Siris syndrome 1	.	219
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ARID2 CL E G H	196528	18037	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	25
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ARMC9 CL E G H	80210	20730	OMIM:617622	JOUBERT SYNDROME 30; JBTS30
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ASXL1 CL E G H	171023	18318	OMIM:605039	Bohring-Opitz syndrome	.	145
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ASXL1 CL E G H	171023	18318	ORPHA:97297	Bohring-Opitz syndrome	HP:0040283 - Occasional	145
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	140
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ATP6V0A2 CL E G H	23545	18481	OMIM:219200	Cutis laxa, autosomal recessive, type IIA	.	140
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ATP6V0A2 CL E G H	23545	18481	ORPHA:2834	Wrinkly skin syndrome	HP:0040282 - Frequent	140
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ATP6V1A CL E G H	523	851	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	3
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ATP6V1B2 CL E G H	526	854	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	5
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ATP6V1E1 CL E G H	529	857	ORPHA:357074	Autosomal recessive cutis laxa type 2, classic type	HP:0040282 - Frequent	2
HP:0002693	HP:0001305	Dandy-Walker malformation	3	B3GALNT2 CL E G H	148789	28596	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	43
HP:0002693	HP:0001305	Dandy-Walker malformation	3	B4GALT1 CL E G H	2683	924	ORPHA:79332	B4GALT1-CDG	HP:0040281 - Very frequent	85
HP:0002693	HP:0001305	Dandy-Walker malformation	3	B4GALT1 CL E G H	2683	924	OMIM:607091	Congenital disorder of glycosylation, type IID	.	85
HP:0002693	HP:0001305	Dandy-Walker malformation	3	B4GAT1 CL E G H	11041	15685	OMIM:615287	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13	.	17
HP:0002693	HP:0001305	Dandy-Walker malformation	3	B4GAT1 CL E G H	11041	15685	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	17
HP:0002693	HP:0001305	Dandy-Walker malformation	3	B9D1 CL E G H	27077	24123	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	28
HP:0002693	HP:0001305	Dandy-Walker malformation	3	B9D2 CL E G H	80776	28636	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	34
HP:0002693	HP:0001305	Dandy-Walker malformation	3	B9D2 CL E G H	80776	28636	OMIM:614175	Meckel syndrome, type 10		34
HP:0002693	HP:0002280	Enlarged cisterna magna	3	BANF1 CL E G H	8815	17397	OMIM:614008	Nestor-Guillermo progeria syndrome		22
HP:0002693	HP:0001305	Dandy-Walker malformation	3	BCOR CL E G H	54880	20893	OMIM:300166	Microphthalmia, syndromic 2		101
HP:0002693	HP:0002280	Enlarged cisterna magna	3	BRF1 CL E G H	2972	11551	ORPHA:444072	Cerebellar-facial-dental syndrome	HP:0040282 - Frequent	7
HP:0002693	HP:0002280	Enlarged cisterna magna	3	BRF1 CL E G H	2972	11551	OMIM:616202	Cerebellofaciodental syndrome		7
HP:0002693	HP:0001305	Dandy-Walker malformation	3	BUB1 CL E G H	699	1148	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	5
HP:0002693	HP:0001305	Dandy-Walker malformation	3	BUB1B CL E G H	701	1149	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	76
HP:0002693	HP:0001305	Dandy-Walker malformation	3	BUB1B CL E G H	701	1149	OMIM:257300	Mosaic variegated aneuploidy syndrome 1	.	76
HP:0002693	HP:0001305	Dandy-Walker malformation	3	BUB3 CL E G H	9184	1151	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent
HP:0002693	HP:0001305	Dandy-Walker malformation	3	C2CD3 CL E G H	26005	24564	ORPHA:434179	Orofaciodigital syndrome type 14	HP:0040282 - Frequent	27
HP:0002693	HP:0001305	Dandy-Walker malformation	3	C2CD3 CL E G H	26005	24564	OMIM:615948	Orofaciodigital syndrome XIV	.	27
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CC2D2A CL E G H	57545	29253	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	247
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CCDC22 CL E G H	28952	28909	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	33
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CCDC22 CL E G H	28952	28909	OMIM:300963	Ritscher-Schinzel syndrome 2	.	33
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CDC42 CL E G H	998	1736	ORPHA:487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	HP:0040283 - Occasional	6
HP:0002693	HP:0002280	Enlarged cisterna magna	3	CDH2 CL E G H	1000	1759	OMIM:618929	AGENESIS OF CORPUS CALLOSUM, CARDIAC, OCULAR, AND GENITAL SYNDROME; ACOGS
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CDKN1C CL E G H	1028	1786	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	114
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CEP120 CL E G H	153241	26690	OMIM:616300	Short-Rib thoracic dysplasia 13 with or without polydactyly	.	7
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CEP290 CL E G H	80184	29021	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	342
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CEP290 CL E G H	80184	29021	OMIM:611134	Meckel syndrome, type 4		342
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CEP57 CL E G H	9702	30794	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	17
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CHD7 CL E G H	55636	20626	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	515
HP:0002693	HP:0002280	Enlarged cisterna magna	3	CNOT3 CL E G H	4849	7879	OMIM:618672	INTELLECTUAL DEVELOPMENTAL DISORDER WITH SPEECH DELAY, AUTISM, AND DYSMORPHIC FACIES; IDDSADF
HP:0002693	HP:0002280	Enlarged cisterna magna	3	COG1 CL E G H	9382	6545	ORPHA:263508	COG1-CDG	HP:0040282 - Frequent	52
HP:0002693	HP:0001305	Dandy-Walker malformation	3	COL4A1 CL E G H	1282	2202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	193
HP:0002693	HP:0002280	Enlarged cisterna magna	3	CPLANE1 CL E G H	65250	25801	OMIM:277170	Orofaciodigital syndrome VI
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CPT2 CL E G H	1376	2330	ORPHA:228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	HP:0040283 - Occasional	101
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CRPPA CL E G H	729920	37276	OMIM:614643	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7	.
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CRPPA CL E G H	729920	37276	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002693	HP:0002280	Enlarged cisterna magna	3	CSF1R CL E G H	1436	2433	OMIM:618476	Brain abnormalities, neurodegeneration, and dysosteosclerosis		149
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002693	HP:0002280	Enlarged cisterna magna	3	CSPP1 CL E G H	79848	26193	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	57
HP:0002693	HP:0001305	Dandy-Walker malformation	3	CSPP1 CL E G H	79848	26193	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	57
HP:0002693	HP:0002280	Enlarged cisterna magna	3	CTU2 CL E G H	348180	28005	OMIM:618142	Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome		1
HP:0002693	HP:0001305	Dandy-Walker malformation	3	DAG1 CL E G H	1605	2666	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	108
HP:0002693	HP:0001305	Dandy-Walker malformation	3	DENND5A CL E G H	23258	19344	OMIM:617281	Epileptic encephalopathy, early infantile, 49	HP:0040284 - Very rare	6
HP:0002693	HP:0001305	Dandy-Walker malformation	3	DHCR7 CL E G H	1717	2860	OMIM:270400	Smith-Lemli-Opitz syndrome		159
HP:0002693	HP:0001305	Dandy-Walker malformation	3	DOK7 CL E G H	285489	26594	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	91
HP:0002693	HP:0001305	Dandy-Walker malformation	3	DPF2 CL E G H	5977	9964	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002693	HP:0001305	Dandy-Walker malformation	3	DPH1 CL E G H	1801	3003	ORPHA:459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	HP:0040282 - Frequent	3
HP:0002693	HP:0001305	Dandy-Walker malformation	3	DPH1 CL E G H	1801	3003	OMIM:616901	Developmental delay with short stature, dysmorphic features, and sparse hair	HP:0040283 - Occasional	3
HP:0002693	HP:0002280	Enlarged cisterna magna	3	DPH5 CL E G H	51611	24270	OMIM:620070
HP:0002693	HP:0001305	Dandy-Walker malformation	3	DPYSL5 CL E G H	56896	20637	OMIM:619435	RITSCHER-SCHINZEL SYNDROME 4; RTSC4
HP:0002693	HP:0001305	Dandy-Walker malformation	3	DYNC2H1 CL E G H	79659	2962	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	304
HP:0002693	HP:0001305	Dandy-Walker malformation	3	DYNC2I1 CL E G H	55112	21862	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002693	HP:0001305	Dandy-Walker malformation	3	DYNC2I2 CL E G H	89891	28296	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional
HP:0002693	HP:0001305	Dandy-Walker malformation	3	EBP CL E G H	10682	3133	OMIM:302960	Chondrodysplasia punctata 2, X-linked dominant	.	51
HP:0002693	HP:0001305	Dandy-Walker malformation	3	EBP CL E G H	10682	3133	ORPHA:401973	MEND syndrome	HP:0040282 - Frequent	51
HP:0002693	HP:0001305	Dandy-Walker malformation	3	EBP CL E G H	10682	3133	OMIM:300960	Mend syndrome	.	51
HP:0002693	HP:0002280	Enlarged cisterna magna	3	EDEM3 CL E G H	80267	16787	OMIM:619493	CONGENITAL DISORDER OF GLYCOSYLATION, TYPE 2v; CDG2V
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ESCO2 CL E G H	157570	27230	ORPHA:2319	Juberg-Hayward syndrome	HP:0040283 - Occasional	92
HP:0002693	HP:0001305	Dandy-Walker malformation	3	EVC CL E G H	2121	3497	OMIM:225500	Ellis-Van creveld syndrome	.	209
HP:0002693	HP:0001305	Dandy-Walker malformation	3	EVC2 CL E G H	132884	19747	OMIM:225500	Ellis-Van creveld syndrome	.	137
HP:0002693	HP:0002280	Enlarged cisterna magna	3	EXOSC8 CL E G H	11340	17035	OMIM:616081	Pontocerebellar hypoplasia, type 1C		4
HP:0002693	HP:0002280	Enlarged cisterna magna	3	FAR1 CL E G H	84188	26222	ORPHA:447753	Autosomal dominant spastic paraplegia type 9A	HP:0040283 - Occasional	7
HP:0002693	HP:0001305	Dandy-Walker malformation	3	FAR1 CL E G H	84188	26222	ORPHA:438178	Fatty acyl-CoA reductase 1 deficiency	HP:0040283 - Occasional	7
HP:0002693	HP:0001305	Dandy-Walker malformation	3	FAR1 CL E G H	84188	26222	OMIM:616154	PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD		7
HP:0002693	HP:0002280	Enlarged cisterna magna	3	FBXO28 CL E G H	23219	29046	OMIM:619777	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 100; DEE100
HP:0002693	HP:0001305	Dandy-Walker malformation	3	FGFR1 CL E G H	2260	3688	OMIM:613001	Encephalocraniocutaneous lipomatosis	.	172
HP:0002693	HP:0001305	Dandy-Walker malformation	3	FKRP CL E G H	79147	17997	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		157
HP:0002693	HP:0001305	Dandy-Walker malformation	3	FKRP CL E G H	79147	17997	OMIM:613153	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5	.	157
HP:0002693	HP:0001305	Dandy-Walker malformation	3	FKRP CL E G H	79147	17997	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	157
HP:0002693	HP:0001305	Dandy-Walker malformation	3	FKTN CL E G H	2218	3622	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		184
HP:0002693	HP:0001305	Dandy-Walker malformation	3	FKTN CL E G H	2218	3622	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	184
HP:0002693	HP:0010559	Vertical clivus	3	FLNA CL E G H	2316	3754	OMIM:304120	Otopalatodigital syndrome, type II	.	493
HP:0002693	HP:0002280	Enlarged cisterna magna	3	FLNB CL E G H	2317	3755	ORPHA:1190	Atelosteogenesis type I	HP:0040283 - Occasional	233
HP:0002693	HP:0001305	Dandy-Walker malformation	3	FLVCR2 CL E G H	55640	20105	OMIM:225790	Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome	.	47
HP:0002693	HP:0002280	Enlarged cisterna magna	3	FOXC1 CL E G H	2296	3800	OMIM:601631	Anterior segment dysgenesis 3	HP:0040283 - Occasional	63
HP:0002693	HP:0001305	Dandy-Walker malformation	3	FTO CL E G H	79068	24678	OMIM:612938	Growth retardation, developmental delay, coarse facies, and earlydeath	.	70
HP:0002693	HP:0001305	Dandy-Walker malformation	3	GJB2 CL E G H	2706	4284	ORPHA:477	KID syndrome		199
HP:0002693	HP:0001305	Dandy-Walker malformation	3	GJB6 CL E G H	10804	4288	ORPHA:477	KID syndrome		56
HP:0002693	HP:0001305	Dandy-Walker malformation	3	GLI3 CL E G H	2737	4319	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	270
HP:0002693	HP:0001305	Dandy-Walker malformation	3	GPC3 CL E G H	2719	4451	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional	73
HP:0002693	HP:0001305	Dandy-Walker malformation	3	GPC4 CL E G H	2239	4452	ORPHA:373	Simpson-Golabi-Behmel syndrome	HP:0040283 - Occasional
HP:0002693	HP:0001305	Dandy-Walker malformation	3	GTPBP2 CL E G H	54676	4670	OMIM:617988	Jaberi-Elahi syndrome
HP:0002693	HP:0001305	Dandy-Walker malformation	3	H19-ICR CL E G H	105259599		OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional
HP:0002693	HP:0001305	Dandy-Walker malformation	3	HRAS CL E G H	3265	5173	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	113
HP:0002693	HP:0001305	Dandy-Walker malformation	3	HYLS1 CL E G H	219844	26558	OMIM:236680	Hydrolethalus syndrome 1	.	31
HP:0002693	HP:0001305	Dandy-Walker malformation	3	IFT80 CL E G H	57560	29262	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	65
HP:0002693	HP:0001305	Dandy-Walker malformation	3	IGF2 CL E G H	3481	5466	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	9
HP:0002693	HP:0002280	Enlarged cisterna magna	3	IL6ST CL E G H	3572	6021	OMIM:619751	STUVE-WIEDEMANN SYNDROME 2; STWS2
HP:0002693	HP:0002280	Enlarged cisterna magna	3	KATNB1 CL E G H	10300	6217	OMIM:616212	Lissencephaly 6, with microcephaly		10
HP:0002693	HP:0001305	Dandy-Walker malformation	3	KCNQ1 CL E G H	3784	6294	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	730
HP:0002693	HP:0001305	Dandy-Walker malformation	3	KCNQ1OT1 CL E G H	10984	6295	OMIM:130650	Beckwith-Wiedemann syndrome	HP:0040283 - Occasional	1
HP:0002693	HP:0002280	Enlarged cisterna magna	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002693	HP:0001305	Dandy-Walker malformation	3	KIAA0586 CL E G H	9786	19960	ORPHA:397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	HP:0040283 - Occasional	24
HP:0002693	HP:0001305	Dandy-Walker malformation	3	KIF7 CL E G H	374654	30497	ORPHA:36	Acrocallosal syndrome	HP:0040282 - Frequent	167
HP:0002693	HP:0001305	Dandy-Walker malformation	3	KRAS CL E G H	3845	6407	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	196
HP:0002693	HP:0001305	Dandy-Walker malformation	3	LARGE1 CL E G H	9215	6511	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		136
HP:0002693	HP:0001305	Dandy-Walker malformation	3	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:0002693	HP:0001305	Dandy-Walker malformation	3	LARGE1 CL E G H	9215	6511	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	136
HP:0002693	HP:0001305	Dandy-Walker malformation	3	MAB21L1 CL E G H	4081	6757	OMIM:618479	Cerebellar, ocular, craniofacial, and genital syndrome	.
HP:0002693	HP:0002280	Enlarged cisterna magna	3	MAN2B1 CL E G H	4125	6826	OMIM:248500	Alpha-mannosidosis		136
HP:0002693	HP:0002280	Enlarged cisterna magna	3	MAPKAPK5 CL E G H	8550	6889	OMIM:619869
HP:0002693	HP:0001305	Dandy-Walker malformation	3	MID1 CL E G H	4281	7095	ORPHA:2745	Opitz GBBB syndrome	HP:0040283 - Occasional	57
HP:0002693	HP:0001305	Dandy-Walker malformation	3	MKS1 CL E G H	54903	7121	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	127
HP:0002693	HP:0001305	Dandy-Walker malformation	3	MKS1 CL E G H	54903	7121	OMIM:249000	Meckel syndrome 1	.	127
HP:0002693	HP:0001305	Dandy-Walker malformation	3	MTM1 CL E G H	4534	7448	OMIM:310400	Myopathy, centronuclear, X-linked		185
HP:0002693	HP:0001305	Dandy-Walker malformation	3	MUSK CL E G H	4593	7525	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	72
HP:0002693	HP:0001305	Dandy-Walker malformation	3	MYOD1 CL E G H	4654	7611	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0002693	HP:0002280	Enlarged cisterna magna	3	NDUFC2 CL E G H	4718	7706	OMIM:619170	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 36; MC1DN36
HP:0002693	HP:0002280	Enlarged cisterna magna	3	NEK8 CL E G H	284086	13387	OMIM:615415	Renal-Hepatic-Pancreatic dysplasia 2		43
HP:0002693	HP:0001305	Dandy-Walker malformation	3	NPHP3 CL E G H	27031	7907	OMIM:267010	MECKEL SYNDROME, TYPE 7; MKS7		157
HP:0002693	HP:0001305	Dandy-Walker malformation	3	NPHP3 CL E G H	27031	7907	ORPHA:3032	NPHP3-related Meckel-like syndrome	HP:0040281 - Very frequent	157
HP:0002693	HP:0001305	Dandy-Walker malformation	3	NPHP3 CL E G H	27031	7907	OMIM:208540	Renal-Hepatic-Pancreatic dysplasia	HP:0040283 - Occasional	157
HP:0002693	HP:0001305	Dandy-Walker malformation	3	NRAS CL E G H	4893	7989	ORPHA:2612	Linear nevus sebaceus syndrome	HP:0040283 - Occasional	102
HP:0002693	HP:0001305	Dandy-Walker malformation	3	NRAS CL E G H	4893	7989	OMIM:249400	Neurocutaneous melanosis, somatic	HP:0040283 - Occasional	102
HP:0002693	HP:0002280	Enlarged cisterna magna	3	NSD1 CL E G H	64324	14234	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	544
HP:0002693	HP:0002280	Enlarged cisterna magna	3	NSD1 CL E G H	64324	14234	OMIM:117550	Sotos syndrome 1		544
HP:0002693	HP:0001305	Dandy-Walker malformation	3	NUP88 CL E G H	4927	8067	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional
HP:0002693	HP:0002280	Enlarged cisterna magna	3	OFD1 CL E G H	8481	2567	OMIM:300804	Joubert syndrome 10	.	201
HP:0002693	HP:0001305	Dandy-Walker malformation	3	OFD1 CL E G H	8481	2567	ORPHA:2750	Orofaciodigital syndrome type 1	HP:0040283 - Occasional	201
HP:0002693	HP:0002280	Enlarged cisterna magna	3	OPHN1 CL E G H	4983	8148	OMIM:300486	Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance		55
HP:0002693	HP:0002280	Enlarged cisterna magna	3	OPHN1 CL E G H	4983	8148	ORPHA:137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	HP:0040283 - Occasional	55
HP:0002693	HP:0002280	Enlarged cisterna magna	3	PACS2 CL E G H	23241	23794	OMIM:618067	Epileptic encephalopathy, early infantile, 66	.
HP:0002693	HP:0001305	Dandy-Walker malformation	3	PHGDH CL E G H	26227	8923	OMIM:256520	Neu-Laxova syndrome	.	37
HP:0002693	HP:0001305	Dandy-Walker malformation	3	PIEZO2 CL E G H	63895	26270	OMIM:248700	Marden-Walker syndrome	.	77
HP:0002693	HP:0001305	Dandy-Walker malformation	3	PIGN CL E G H	23556	8967	ORPHA:2059	Fryns syndrome	HP:0040283 - Occasional	37
HP:0002693	HP:0002280	Enlarged cisterna magna	3	PIGU CL E G H	128869	15791	OMIM:618590	NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS
HP:0002693	HP:0002280	Enlarged cisterna magna	3	PITX1 CL E G H	5307	9004	OMIM:119800	CLUBFOOT, CONGENITAL, WITH OR WITHOUT DEFICIENCY OF LONG BONES AND/OR MIRROR-IMAGE POLYDACTYLY; CCF		8
HP:0002693	HP:0002280	Enlarged cisterna magna	3	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002693	HP:0001305	Dandy-Walker malformation	3	PLCH1 CL E G H	23007	29185	OMIM:619895
HP:0002693	HP:0001305	Dandy-Walker malformation	3	PLG CL E G H	5340	9071	ORPHA:722	Hypoplasminogenemia	HP:0040283 - Occasional	11
HP:0002693	HP:0001305	Dandy-Walker malformation	3	PLG CL E G H	5340	9071	OMIM:217090	Plasminogen deficiency, type iligneous conjunctivitis, included	.	11
HP:0002693	HP:0002280	Enlarged cisterna magna	3	PLPBP CL E G H	11212	9457	ORPHA:3006	Pyridoxine-dependent epilepsy	HP:0040283 - Occasional	6
HP:0002693	HP:0002280	Enlarged cisterna magna	3	PMM2 CL E G H	5373	9115	OMIM:212065	Congenital disorder of glycosylation, type Ia		150
HP:0002693	HP:0002280	Enlarged cisterna magna	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040283 - Occasional	150
HP:0002693	HP:0001305	Dandy-Walker malformation	3	PMM2 CL E G H	5373	9115	ORPHA:79318	PMM2-CDG	HP:0040284 - Very rare	150
HP:0002693	HP:0002280	Enlarged cisterna magna	3	PMPCA CL E G H	23203	18667	ORPHA:1170	Autosomal recessive cerebelloparenchymal disorder type 3	HP:0040283 - Occasional	7
HP:0002693	HP:0002280	Enlarged cisterna magna	3	POGZ CL E G H	23126	18801	ORPHA:468678	White-Sutton syndrome	HP:0040284 - Very rare	35
HP:0002693	HP:0002280	Enlarged cisterna magna	3	POLR2A CL E G H	5430	9187	OMIM:618603	NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND VARIABLE INTELLECTUAL AND BEHAVIORAL ABNORMALITIES; NEDHIB
HP:0002693	HP:0001305	Dandy-Walker malformation	3	POLR3A CL E G H	11128	30074	OMIM:264090	Wiedemann-Rautenstrauch syndrome	.	138
HP:0002693	HP:0001305	Dandy-Walker malformation	3	POMGNT1 CL E G H	55624	19139	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	180
HP:0002693	HP:0001305	Dandy-Walker malformation	3	POMGNT2 CL E G H	84892	25902	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	33
HP:0002693	HP:0002280	Enlarged cisterna magna	3	POMK CL E G H	84197	26267	OMIM:616094	Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 12		18
HP:0002693	HP:0001305	Dandy-Walker malformation	3	POMK CL E G H	84197	26267	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	18
HP:0002693	HP:0001305	Dandy-Walker malformation	3	POMT1 CL E G H	10585	9202	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		213
HP:0002693	HP:0002280	Enlarged cisterna magna	3	POMT1 CL E G H	10585	9202	OMIM:613155	MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1	.	213
HP:0002693	HP:0001305	Dandy-Walker malformation	3	POMT1 CL E G H	10585	9202	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	213
HP:0002693	HP:0001305	Dandy-Walker malformation	3	POMT2 CL E G H	29954	19743	OMIM:236670	Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1		221
HP:0002693	HP:0001305	Dandy-Walker malformation	3	POMT2 CL E G H	29954	19743	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent	221
HP:0002693	HP:0001305	Dandy-Walker malformation	3	PPP1CB CL E G H	5500	9282	OMIM:617506	Noonan syndrome-like disorder with loose anagen hair 2		9
HP:0002693	HP:0002280	Enlarged cisterna magna	3	PRX CL E G H	57716	13797	OMIM:614895	Charcot-Marie-Tooth disease, demyelinating, type 4F		170
HP:0002693	HP:0012487	Cerebellopontine angle arachnoid cyst	3	PUF60 CL E G H	22827	17042	ORPHA:508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	HP:0040283 - Occasional	19
HP:0002693	HP:0002280	Enlarged cisterna magna	3	RAB18 CL E G H	22931	14244	OMIM:614222	Warburg micro syndrome 3		85
HP:0002693	HP:0002280	Enlarged cisterna magna	3	RAC1 CL E G H	5879	9801	OMIM:617751	Mental retardation, autosomal dominant 48		3
HP:0002693	HP:0002280	Enlarged cisterna magna	3	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:0002693	HP:0001305	Dandy-Walker malformation	3	RAPSN CL E G H	5913	9863	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	73
HP:0002693	HP:0001305	Dandy-Walker malformation	3	RNF113A CL E G H	7737	12974	OMIM:300953	Trichothiodystrophy 5, nonphotosensitive	.	3
HP:0002693	HP:0001305	Dandy-Walker malformation	3	RPGRIP1 CL E G H	57096	13436	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	109
HP:0002693	HP:0001305	Dandy-Walker malformation	3	RPGRIP1L CL E G H	23322	29168	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	167
HP:0002693	HP:0001305	Dandy-Walker malformation	3	RXYLT1 CL E G H	10329	13530	ORPHA:899	Walker-Warburg syndrome	HP:0040282 - Frequent
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SEMA3E CL E G H	9723	10727	ORPHA:138	CHARGE syndrome	HP:0040283 - Occasional	16
HP:0002693	HP:0002280	Enlarged cisterna magna	3	SETD2 CL E G H	29072	18420	ORPHA:821	Sotos syndrome	HP:0040283 - Occasional	60
HP:0002693	HP:0002280	Enlarged cisterna magna	3	SH2B1 CL E G H	25970	30417	ORPHA:261197	Proximal 16p11.2 microdeletion syndrome	HP:0040283 - Occasional
HP:0002693	HP:0002280	Enlarged cisterna magna	3	SH3PXD2B CL E G H	285590	29242	OMIM:249420	Frank-ter Haar syndrome		134
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SLC18A3 CL E G H	6572	10936	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	2
HP:0002693	HP:0002280	Enlarged cisterna magna	3	SLC35A2 CL E G H	7355	11022	OMIM:300896	Congenital disorder of glycosylation, type IIm		27
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040284 - Very rare	27
HP:0002693	HP:0002280	Enlarged cisterna magna	3	SLC5A6 CL E G H	8884	11041	OMIM:618973	NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SMARCA4 CL E G H	6597	11100	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	617
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SMARCA4 CL E G H	6597	11100	OMIM:614609	Coffin-Siris syndrome 4		617
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SMARCB1 CL E G H	6598	11103	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	87
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SMARCC2 CL E G H	6601	11105	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	1
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SMARCD1 CL E G H	6602	11106	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SMARCE1 CL E G H	6605	11109	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	47
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SMARCE1 CL E G H	6605	11109	OMIM:616938	Coffin-Siris syndrome 5	.	47
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SMG9 CL E G H	56006	25763	OMIM:616920	Heart and brain malformation syndrome		2
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SOX11 CL E G H	6664	11191	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional	14
HP:0002693	HP:0001305	Dandy-Walker malformation	3	SOX4 CL E G H	6659	11200	ORPHA:1465	Coffin-Siris syndrome	HP:0040283 - Occasional
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TBC1D24 CL E G H	57465	29203	ORPHA:79500	DOORS syndrome	HP:0040284 - Very rare	271
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TBC1D24 CL E G H	57465	29203	OMIM:220500	Doors syndrome	HP:0040283 - Occasional	271
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TCTN1 CL E G H	79600	26113	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TCTN2 CL E G H	79867	25774	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	76
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TCTN3 CL E G H	26123	24519	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	31
HP:0002693	HP:0002280	Enlarged cisterna magna	3	TIMMDC1 CL E G H	51300	1321	OMIM:618251	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31; MC1DN31		1
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TMEM107 CL E G H	84314	28128	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	4
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TMEM138 CL E G H	51524	26944	OMIM:614465	JOUBERT SYNDROME 16; JBTS16		39
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TMEM216 CL E G H	51259	25018	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	45
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TMEM216 CL E G H	51259	25018	OMIM:603194	Meckel syndrome, type 2	HP:0040283 - Occasional	45
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TMEM231 CL E G H	79583	37234	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	33
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TMEM231 CL E G H	79583	37234	ORPHA:2752	Orofaciodigital syndrome type 3	HP:0040282 - Frequent	33
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TMEM237 CL E G H	65062	14432	OMIM:614424	Joubert syndrome 14	.	82
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TMEM237 CL E G H	65062	14432	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	82
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TMEM67 CL E G H	91147	28396	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	166
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TMEM67 CL E G H	91147	28396	OMIM:607361	Meckel syndrome 3		166
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TRIP13 CL E G H	9319	12307	ORPHA:1052	Mosaic variegated aneuploidy syndrome	HP:0040281 - Very frequent	2
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TUBA1A CL E G H	7846	20766	ORPHA:994	Fetal akinesia deformation sequence	HP:0040283 - Occasional	106
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TUBB CL E G H	203068	20778	OMIM:156610	Skin creases, congenital symmetric circumferential, 1	HP:0040283 - Occasional	14
HP:0002693	HP:0001305	Dandy-Walker malformation	3	TXNDC15 CL E G H	79770	20652	ORPHA:564	Meckel syndrome	HP:0040283 - Occasional	2
HP:0002693	HP:0001305	Dandy-Walker malformation	3	USP9X CL E G H	8239	12632	OMIM:300968	Mental retardation, X-linked 99, syndromic, female-restricted		27
HP:0002693	HP:0001305	Dandy-Walker malformation	3	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:0002693	HP:0002280	Enlarged cisterna magna	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002693	HP:0001305	Dandy-Walker malformation	3	VPS51 CL E G H	738	1172	OMIM:618606	PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13
HP:0002693	HP:0002280	Enlarged cisterna magna	3	VRK1 CL E G H	7443	12718	OMIM:607596	Pontocerebellar hypoplasia type 1A		32
HP:0002693	HP:0001305	Dandy-Walker malformation	3	WASHC5 CL E G H	9897	28984	ORPHA:7	3C syndrome	HP:0040281 - Very frequent	83
HP:0002693	HP:0001305	Dandy-Walker malformation	3	WASHC5 CL E G H	9897	28984	OMIM:220210	Ritscher-Schinzel syndrome 1	.	83
HP:0002693	HP:0001305	Dandy-Walker malformation	3	WDR35 CL E G H	57539	29250	ORPHA:93271	Short rib-polydactyly syndrome, Verma-Naumoff type	HP:0040283 - Occasional	136
HP:0002693	HP:0001305	Dandy-Walker malformation	3	WDR73 CL E G H	84942	25928	OMIM:251300	Galloway-mowat syndrome 1	HP:0040283 - Occasional	14
HP:0002693	HP:0001305	Dandy-Walker malformation	3	WDR81 CL E G H	124997	26600	OMIM:617967	Hydrocephalus, congenital, 3, with brain anomalies	.	27
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ZIC1 CL E G H	7545	12872	OMIM:616602	Craniosynostosis 6	HP:0040283 - Occasional	5
HP:0002693	HP:0001305	Dandy-Walker malformation	3	ZIC1 CL E G H	7545	12872	OMIM:618736	STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS		5
HP:0002693	HP:0010559	Vertical clivus	3	ZSWIM6 CL E G H	57688	29316	OMIM:603671	Acromelic frontonasal dysostosis	HP:0040283 - Occasional	5