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