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:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ACY1 CL E G H | 95 | 177 | ORPHA:137754 | Neurological conditions associated with aminoacylase 1 deficiency | HP:0040283 - Occasional | | | 13 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | | | | 88 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 88 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | | | | 175 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | | | | 175 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 175 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | AIPL1 CL E G H | 23746 | 359 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 114 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | | | | 132 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | | | | 132 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | | | | 13 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | | | | 62 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | | | | 49 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | | | | 16 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | | | | 19 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 140 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:219200 | Cutis laxa, autosomal recessive, type IIA | | | | 140 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | | | | 140 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 3 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 2 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | | | | 168 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | | | | 43 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | B4GALT1 CL E G H | 2683 | 924 | OMIM:607091 | Congenital disorder of glycosylation, type IID | | | | 85 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | | | | 17 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | | | | 28 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | | | | 28 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | | | | 34 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | | | | 34 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | | | | 38 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 5 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 76 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | | | | 27 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 247 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 247 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | | | | 247 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CCDC22 CL E G H | 28952 | 28909 | OMIM:300963 | Ritscher-Schinzel syndrome 2 | | | | 33 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | | | | 6 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 114 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | | | | 5 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | | | | 7 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 7 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | | | | 7 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP164 CL E G H | 22897 | 29182 | OMIM:614845 | Nephronophthisis 15 | | | | 34 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 342 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 342 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | | | | 342 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | | | | 342 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | | | | 90 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 90 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 17 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | | | | 52 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | | | | 193 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CPSF3 CL E G H | 51692 | 2326 | OMIM:619876 | | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | | | | 101 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | | | | 101 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CRB1 CL E G H | 23418 | 2343 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 156 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CRX CL E G H | 1406 | 2383 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 158 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | | | | 57 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | | | | 57 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | | | | 9 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | | | | 108 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | | | | 108 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | | | | 108 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | | | | 27 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DENND5A CL E G H | 23258 | 19344 | OMIM:617281 | Epileptic encephalopathy, early infantile, 49 | | | | 6 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 91 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | | | | 3 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | | | | 3 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614563 | Mental retardation, autosomal dominant 13 | | | | 427 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | | | | 51 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | | | | 51 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | | | | 40 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:2319 | Juberg-Hayward syndrome | | | | 92 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 209 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 137 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | | | | 4 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | | | | 7 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | | | | 114 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 157 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | | | | 157 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | | | | 157 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | | | | 184 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FLVCR2 CL E G H | 55640 | 20105 | OMIM:225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | | | | 47 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | | | | 63 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | | | | 63 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | | | | 70 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GDF6 CL E G H | 392255 | 4221 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 64 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | | | | 270 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 34 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | | | | 30 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | GUCY2D CL E G H | 3000 | 4689 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 124 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 113 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | | | | 31 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | IFT140 CL E G H | 9742 | 29077 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 148 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | | | | 48 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 9 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | IMPDH1 CL E G H | 3614 | 6052 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 52 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | | | | 111 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 111 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 111 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | IQCB1 CL E G H | 9657 | 28949 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 61 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KCNJ13 CL E G H | 3769 | 6259 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 42 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 730 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | | | | 24 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | | | | 24 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 4 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | | | | 167 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 167 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 196 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | L1CAM CL E G H | 3897 | 6470 | OMIM:304100 | Corpus callosum, partial agenesis of, X-linked | | | | 134 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | | | | 35 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | | | | 35 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | | | | 71 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 136 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:613154 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | | | | 136 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | | | | 136 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | LCA5 CL E G H | 167691 | 31923 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 70 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | LETM1 CL E G H | 3954 | 6556 | OMIM:620089 | | | | | 2 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | LRAT CL E G H | 9227 | 6685 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 62 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MEF2C CL E G H | 4208 | 6996 | ORPHA:228384 | 5q14.3 microdeletion syndrome | | | | 132 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | | | | 127 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | | | | 127 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | | | | 127 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MPL CL E G H | 4352 | 7217 | OMIM:604498 | Amegakaryocytic thrombocytopenia, congenital | | | | 97 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | | | | 532 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | | | | 185 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | | | | 150 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | | | | 2 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | | | | 101 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NMNAT1 CL E G H | 64802 | 17877 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 15 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | | | | 85 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 85 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3032 | NPHP3-related Meckel-like syndrome | | | | 157 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | | | | 157 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 102 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NRAS CL E G H | 4893 | 7989 | OMIM:249400 | Neurocutaneous melanosis, somatic | | | | 102 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | | | | 544 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NUP37 CL E G H | 79023 | 29929 | OMIM:618179 | Microcephaly 24, primary, autosomal recessive | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | OFD1 CL E G H | 8481 | 2567 | OMIM:300804 | Joubert syndrome 10 | | | | 201 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 201 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040283 - Occasional | | | 55 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | | | | 24 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | | | | 231 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PCYT1A CL E G H | 5130 | 8754 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 11 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PGAP1 CL E G H | 80055 | 25712 | ORPHA:401820 | Autosomal recessive spastic paraplegia type 67 | HP:0040282 - Frequent | | | 20 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 11 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | | | | 11 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | | | | 4 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | | | | 77 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | | | | 37 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PLG CL E G H | 5340 | 9071 | ORPHA:722 | Hypoplasminogenemia | | | | 11 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PLG CL E G H | 5340 | 9071 | OMIM:217090 | Plasminogen deficiency, type iligneous conjunctivitis, included | | | | 11 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | | | | 150 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | | | | 180 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | | | | 33 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | | | | 18 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 213 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | | | | 213 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | | | | 213 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | | | | 221 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | | | | 221 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619909 | | | | | 2 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | | | | 42 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PSAT1 CL E G H | 29968 | 19129 | OMIM:610992 | Phosphoserine aminotransferase deficiency | | | | 27 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | | | | 27 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | | | | 948 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | | | | 22 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | | | | 85 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | | | | 90 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | | | | 90 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:401830 | Autosomal recessive spastic paraplegia type 69 | HP:0040282 - Frequent | | | 135 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | | | | 135 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 73 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | | | | 93 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | | | | 16 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RD3 CL E G H | 343035 | 19689 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 95 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RDH12 CL E G H | 145226 | 19977 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 45 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | | | | 16 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | | | | 3 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RPE65 CL E G H | 6121 | 10294 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 129 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RPE65 CL E G H | 6121 | 10294 | OMIM:204100 | Leber congenital amaurosis, type II | | | | 129 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 109 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | | | | 109 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 167 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 167 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | | | | 167 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | | | | 309 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | | | | 60 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 2 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | | | | 36 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | | | | 617 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SPATA7 CL E G H | 55812 | 20423 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 48 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | | | | 80 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | | | | 50 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | | | | 124 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | | | | 15 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | | | | 45 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TCTN1 CL E G H | 79600 | 26113 | OMIM:614173 | Joubert syndrome 13 | | | | 45 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | | | | 76 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | | | | 76 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | | | | 31 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 31 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | | | | 12 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | THOC2 CL E G H | 57187 | 19073 | OMIM:300957 | Mental retardation, X-linked 12/35 | | | | 5 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | | | | 6 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | | | | 4 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM138 CL E G H | 51524 | 26944 | OMIM:614465 | JOUBERT SYNDROME 16; JBTS16 | | | | 39 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 39 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 45 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | | | | 45 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 45 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM218 CL E G H | 219854 | 27344 | OMIM:619562 | JOUBERT SYNDROME 39; JBTS39 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 33 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | | | | 33 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | | | | 33 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | | | | 82 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | | | | 82 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 82 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | | | | 82 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | | | | 82 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | | | | 166 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | | | | 166 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | | | | 166 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | | | | 166 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | | | | 166 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | | | | 61 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | | | | 158 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 2 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | | | | 2 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | | | | 84 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TSEN34 CL E G H | 79042 | 15506 | OMIM:612390 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C | | | | 57 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 106 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TUBA1A CL E G H | 7846 | 20766 | OMIM:611603 | Lissencephaly 3 | | | | 106 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 106 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:615771 | Cortical dysplasia, complex, with other brain malformations 6 | | | | 14 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 39 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | | | | 64 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 64 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TUBB4B CL E G H | 10383 | 20771 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TULP1 CL E G H | 7287 | 12423 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | 66 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | | | | 2 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | USP45 CL E G H | 85015 | 20080 | ORPHA:65 | Leber congenital amaurosis | HP:0040282 - Frequent | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | USP9X CL E G H | 8239 | 12632 | ORPHA:480880 | X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability | | | | 27 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | | | | 2 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | | | | 83 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | | | | 14 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | WDR81 CL E G H | 124997 | 26600 | OMIM:610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2 | | | | 27 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | WDR81 CL E G H | 124997 | 26600 | OMIM:617967 | Hydrocephalus, congenital, 3, with brain anomalies | | | | 27 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | | | | 362 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | | | | 362 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | | | | 5 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:618736 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS | | | | 5 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | | | | 49 | | |
HP:0006817 | HP:0006817 | Aplasia/Hypoplasia of the cerebellar vermis | 0 | ZNF423 CL E G H | 23090 | 16762 | OMIM:614844 | Nephronophthisis 14 | | | | 49 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040282 - Frequent | | | 88 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 88 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 175 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | . | | | 175 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | AHI1 CL E G H | 54806 | 21575 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 175 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | | | | 132 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ALX4 CL E G H | 60529 | 450 | OMIM:613451 | Frontonasal dysplasia 2 | . | | | 132 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | ALX4 CL E G H | 60529 | 450 | ORPHA:228390 | Frontonasal dysplasia-alopecia-genital anomalies syndrome | HP:0040282 - Frequent | | | 132 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | | | | 13 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | APC2 CL E G H | 10297 | 24036 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | | | | 88 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | | | | 219 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | | | | 219 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | | | | 25 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ARL13B CL E G H | 200894 | 25419 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 62 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ARL3 CL E G H | 403 | 694 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ARMC9 CL E G H | 80210 | 20730 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | | | | 145 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ASXL3 CL E G H | 80816 | 29357 | ORPHA:352577 | Bainbridge-Ropers syndrome | HP:0040283 - Occasional | | | 49 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ATN1 CL E G H | 1822 | 3033 | OMIM:618494 | Congenital hypotonia, epilepsy, developmental delay, and digital anomalies | . | | | 16 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ATP2B3 CL E G H | 492 | 816 | ORPHA:314978 | X-linked non progressive cerebellar ataxia | HP:0040282 - Frequent | | | 19 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 140 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:219200 | Cutis laxa, autosomal recessive, type IIA | | | | 140 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ATP6V1A CL E G H | 523 | 851 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 3 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | | | | 5 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ATP6V1E1 CL E G H | 529 | 857 | ORPHA:357074 | Autosomal recessive cutis laxa type 2, classic type | | | | 2 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ATR CL E G H | 545 | 882 | OMIM:210600 | Seckel syndrome 1 | . | | | 168 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | | | | 43 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | | | | 85 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | B4GALT1 CL E G H | 2683 | 924 | OMIM:607091 | Congenital disorder of glycosylation, type IID | | | | 85 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | B4GAT1 CL E G H | 11041 | 15685 | OMIM:615287 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 13 | | | | 17 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | | | | 17 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 28 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | | | | 28 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 34 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | | | | 34 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | | | | 38 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | BUB1 CL E G H | 699 | 1148 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 5 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | BUB1B CL E G H | 701 | 1149 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 76 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | | | | 76 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | | | | 27 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | | | | 27 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CBY1 CL E G H | 25776 | 1307 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CC2D2A CL E G H | 57545 | 29253 | OMIM:619111 | COACH SYNDROME 2; COACH2 | | | | 247 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 247 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 247 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | | | | 247 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | | | | 33 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CCDC22 CL E G H | 28952 | 28909 | OMIM:300963 | Ritscher-Schinzel syndrome 2 | | | | 33 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CCDC32 CL E G H | 90416 | 28295 | OMIM:619123 | CARDIOFACIONEURODEVELOPMENTAL SYNDROME; CFNDS | | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CDC42 CL E G H | 998 | 1736 | ORPHA:487796 | Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome | | | | 6 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CDC42BPB CL E G H | 9578 | 1738 | OMIM:619841 | | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 114 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CENPF CL E G H | 1063 | 1857 | OMIM:243605 | Stromme syndrome | | | | 27 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CEP104 CL E G H | 9731 | 24866 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 5 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 7 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CEP120 CL E G H | 153241 | 26690 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 7 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CEP120 CL E G H | 153241 | 26690 | OMIM:616300 | Short-Rib thoracic dysplasia 13 with or without polydactyly | | | | 7 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CEP164 CL E G H | 22897 | 29182 | OMIM:614845 | Nephronophthisis 15 | HP:0040283 - Occasional | | | 34 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 342 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | | | | 342 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | | | | 342 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | | | | 342 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 90 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CEP41 CL E G H | 95681 | 12370 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 90 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CEP57 CL E G H | 9702 | 30794 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 17 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | | | | 515 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | COG1 CL E G H | 9382 | 6545 | ORPHA:263508 | COG1-CDG | HP:0040282 - Frequent | | | 52 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | | | | 193 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CPLANE1 CL E G H | 65250 | 25801 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CPLANE1 CL E G H | 65250 | 25801 | OMIM:277170 | Orofaciodigital syndrome VI | . | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CPSF3 CL E G H | 51692 | 2326 | OMIM:619876 | | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228308 | Carnitine palmitoyl transferase II deficiency, neonatal form | HP:0040283 - Occasional | | | 101 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CPT2 CL E G H | 1376 | 2330 | ORPHA:228305 | Carnitine palmitoyl transferase II deficiency, severe infantile form | | | | 101 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CRPPA CL E G H | 729920 | 37276 | OMIM:614643 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 57 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 57 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | | | | 57 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CWF19L1 CL E G H | 55280 | 25613 | ORPHA:453521 | Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency | HP:0040282 - Frequent | | | 9 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | CWF19L1 CL E G H | 55280 | 25613 | OMIM:616127 | Spinocerebellar ataxia, autosomal recessive 17 | | | | 9 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | HP:0040282 - Frequent | | | 108 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DAG1 CL E G H | 1605 | 2666 | OMIM:616538 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 9 | . | | | 108 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | | | | 108 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DCHS1 CL E G H | 8642 | 13681 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 27 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DENND5A CL E G H | 23258 | 19344 | OMIM:617281 | Epileptic encephalopathy, early infantile, 49 | | | | 6 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 91 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DPH1 CL E G H | 1801 | 3003 | ORPHA:459061 | Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome | HP:0040282 - Frequent | | | 3 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DPH1 CL E G H | 1801 | 3003 | OMIM:616901 | Developmental delay with short stature, dysmorphic features, and sparse hair | HP:0040283 - Occasional | | | 3 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DPH5 CL E G H | 51611 | 24270 | OMIM:620070 | | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DYNC1H1 CL E G H | 1778 | 2961 | OMIM:614563 | Mental retardation, autosomal dominant 13 | | | | 427 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DYNC2H1 CL E G H | 79659 | 2962 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 304 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DYNC2I1 CL E G H | 55112 | 21862 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | DYNC2I2 CL E G H | 89891 | 28296 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | EBF3 CL E G H | 253738 | 19087 | OMIM:617330 | HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS | | | | 25 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | | | | 51 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | | | | 51 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | | | | 51 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | EPG5 CL E G H | 57724 | 29331 | OMIM:242840 | Vici syndrome | . | | | 40 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:2319 | Juberg-Hayward syndrome | | | | 92 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 209 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | | | | 137 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | EXOC2 CL E G H | 55770 | 24968 | OMIM:619306 | NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND CEREBELLAR HYPOPLASIA; NEDFACH | | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | EXOSC8 CL E G H | 11340 | 17035 | OMIM:616081 | Pontocerebellar hypoplasia, type 1C | . | | | 4 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FAM149B1 CL E G H | 317662 | 29162 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FAR1 CL E G H | 84188 | 26222 | ORPHA:438178 | Fatty acyl-CoA reductase 1 deficiency | | | | 7 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FAR1 CL E G H | 84188 | 26222 | OMIM:616154 | PEROXISOMAL FATTY ACYL-CoA REDUCTASE 1 DISORDER; PFCRD | | | | 7 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FAT4 CL E G H | 79633 | 23109 | ORPHA:314679 | Cerebrofacioarticular syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FDXR CL E G H | 2232 | 3642 | ORPHA:543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | HP:0040283 - Occasional | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | | | | 172 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FIG4 CL E G H | 9896 | 16873 | OMIM:216340 | Yunis-Varon syndrome | | | | 111 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 157 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 157 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | | | | 157 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | | | | 157 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | | | | 157 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FKTN CL E G H | 2218 | 3622 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 184 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | | | | 184 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FLVCR2 CL E G H | 55640 | 20105 | OMIM:225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | | | | 47 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FOXC1 CL E G H | 2296 | 3800 | OMIM:601631 | Anterior segment dysgenesis 3 | HP:0040283 - Occasional | | | 63 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FOXC1 CL E G H | 2296 | 3800 | OMIM:602482 | Axenfeld-rieger syndrome, type 3 | . | | | 63 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FRMD4A CL E G H | 55691 | 25491 | OMIM:616819 | Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia | | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FRMD4A CL E G H | 55691 | 25491 | ORPHA:466688 | Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome | HP:0040282 - Frequent | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | FTO CL E G H | 79068 | 24678 | OMIM:612938 | Growth retardation, developmental delay, coarse facies, and earlydeath | | | | 70 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | | | | 270 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 34 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GOT2 CL E G H | 2806 | 4433 | OMIM:618721 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 82; DEE82 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | 73 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GPC3 CL E G H | 2719 | 4451 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | 73 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GPC4 CL E G H | 2239 | 4452 | OMIM:312870 | Simpson-golabi-behmel syndrome, type 1 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GRIA3 CL E G H | 2892 | 4573 | ORPHA:364028 | X-linked intellectual disability due to GRIA3 mutations | HP:0040283 - Occasional | | | 30 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | H3-3A CL E G H | 3020 | 4764 | OMIM:619720 | BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | HHAT CL E G H | 55733 | 18270 | OMIM:600092 | Nivelon-Nivelon-Mabille syndrome | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | HNRNPH1 CL E G H | 3187 | 5041 | OMIM:620083 | | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | HNRNPR CL E G H | 10236 | 5047 | OMIM:620073 | | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 113 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | | | | 31 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | HYLS1 CL E G H | 219844 | 26558 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 31 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | IFT172 CL E G H | 26160 | 30391 | OMIM:615630 | Short-Rib thoracic dysplasia 10 with or without polydactyly | HP:0040283 - Occasional | | | 48 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | IFT80 CL E G H | 57560 | 29262 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 65 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 9 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 111 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 111 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | INPP5E CL E G H | 56623 | 21474 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 111 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ITPR1 CL E G H | 3708 | 6180 | OMIM:117360 | Spinocerebellar ataxia 29 | | | | 177 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | KATNIP CL E G H | 23247 | 29068 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | KATNIP CL E G H | 23247 | 29068 | OMIM:616784 | JOUBERT SYNDROME 26; JBTS26 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 730 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 24 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040283 - Occasional | | | 24 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | KIAA0586 CL E G H | 9786 | 19960 | OMIM:616546 | Short-Rib thoracic dysplasia 14 with polydactyly | . | | | 24 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | KIAA0753 CL E G H | 9851 | 29110 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 4 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | | | | 167 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | KIF7 CL E G H | 374654 | 30497 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 167 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 196 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | L1CAM CL E G H | 3897 | 6470 | OMIM:304100 | Corpus callosum, partial agenesis of, X-linked | | | | 134 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | | | | 35 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | LAMA1 CL E G H | 284217 | 6481 | OMIM:615960 | Poretti-Boltshauser syndrome | . | | | 35 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | LAMB1 CL E G H | 3912 | 6486 | OMIM:615191 | Lissencephaly 5 | | | | 71 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 136 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 136 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:613154 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | | | | 136 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | | | | 136 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | LETM1 CL E G H | 3954 | 6556 | OMIM:620089 | | | | | 2 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | LRRC32 CL E G H | 2615 | 4161 | OMIM:619074 | CLEFT PALATE, PROLIFERATIVE RETINOPATHY, AND DEVELOPMENTAL DELAY; CPPRDD | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MAN2C1 CL E G H | 4123 | 6827 | OMIM:619775 | CONGENITAL DISORDER OF DEGLYCOSYLATION 2; CDDG2 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MAPKAPK5 CL E G H | 8550 | 6889 | OMIM:619869 | | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MBD5 CL E G H | 55777 | 20444 | OMIM:156200 | Mental retardation, autosomal dominant 1 | | | | 252 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | MEF2C CL E G H | 4208 | 6996 | ORPHA:228384 | 5q14.3 microdeletion syndrome | HP:0040283 - Occasional | | | 132 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | | | | 57 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MID1 CL E G H | 4281 | 7095 | OMIM:300000 | Opitz gbbb syndrome, type I | | | | 57 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 127 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:220493 | Joubert syndrome with ocular defect | HP:0040281 - Very frequent | | | 127 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | | | | 127 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | | | | 127 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MPL CL E G H | 4352 | 7217 | OMIM:604498 | Amegakaryocytic thrombocytopenia, congenital | . | | | 97 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MRE11 CL E G H | 4361 | 7230 | ORPHA:251347 | Ataxia-telangiectasia-like disorder | HP:0040282 - Frequent | | | 532 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | | | | 185 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 72 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | MVK CL E G H | 4598 | 7530 | OMIM:610377 | Mevalonic aciduria | . | | | 150 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NCAPG2 CL E G H | 54892 | 21904 | OMIM:618460 | Khan-Khan-Katsanis syndrome | . | | | 2 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NEK1 CL E G H | 4750 | 7744 | OMIM:263520 | Short-Rib thoracic dysplasia 6 with or without polydactyly | HP:0040283 - Occasional | | | 101 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | . | | | 85 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NPHP1 CL E G H | 4867 | 7905 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 85 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NPHP3 CL E G H | 27031 | 7907 | ORPHA:3032 | NPHP3-related Meckel-like syndrome | | | | 157 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | | | | 157 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | | | | 102 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NRAS CL E G H | 4893 | 7989 | OMIM:249400 | Neurocutaneous melanosis, somatic | | | | 102 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NSD1 CL E G H | 64324 | 14234 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 544 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NSRP1 CL E G H | 84081 | 25305 | OMIM:620001 | | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NUP37 CL E G H | 79023 | 29929 | OMIM:618179 | Microcephaly 24, primary, autosomal recessive | . | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | OFD1 CL E G H | 8481 | 2567 | OMIM:300804 | Joubert syndrome 10 | . | | | 201 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | | | | 201 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 201 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | OPHN1 CL E G H | 4983 | 8148 | OMIM:300486 | Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance | | | | 55 | | |
HP:0006817 | HP:0002951 | Partial absence of cerebellar vermis | 1 | OPHN1 CL E G H | 4983 | 8148 | ORPHA:137831 | X-linked intellectual disability-cerebellar hypoplasia syndrome | HP:0040282 - Frequent | | | 55 | | |
HP:0006817 | HP:0002951 | Partial absence of cerebellar vermis | 1 | PACS1 CL E G H | 55690 | 30032 | ORPHA:329224 | Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome | HP:0040283 - Occasional | | | 24 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PAFAH1B1 CL E G H | 5048 | 8574 | ORPHA:95232 | Lissencephaly due to LIS1 mutation | HP:0040284 - Very rare | | | 231 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PCGF2 CL E G H | 7703 | 12929 | OMIM:618371 | Turnpenny-Fry syndrome | . | | | | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | PDE6D CL E G H | 5147 | 8788 | OMIM:615665 | Joubert syndrome 22 | | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PDE6D CL E G H | 5147 | 8788 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PGAP1 CL E G H | 80055 | 25712 | OMIM:615802 | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 42; MRT42 | | | | 20 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | | | | 37 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PI4KA CL E G H | 5297 | 8983 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 11 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:616531 | Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis | | | | 11 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PIBF1 CL E G H | 10464 | 23352 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 4 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | | | | 77 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | | | | 37 | | |
HP:0006817 | HP:0002951 | Partial absence of cerebellar vermis | 1 | PIGN CL E G H | 23556 | 8967 | ORPHA:280633 | Multiple congenital anomalies-hypotonia-seizures syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PIGU CL E G H | 128869 | 15791 | OMIM:618590 | NEURODEVELOPMENTAL DISORDER WITH BRAIN ANOMALIES, SEIZURES, AND SCOLIOSIS; NEDBSS | | | | | | |
HP:0006817 | HP:0002951 | Partial absence of cerebellar vermis | 1 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PLG CL E G H | 5340 | 9071 | ORPHA:722 | Hypoplasminogenemia | | | | 11 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PLG CL E G H | 5340 | 9071 | OMIM:217090 | Plasminogen deficiency, type iligneous conjunctivitis, included | | | | 11 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040283 - Occasional | | | 150 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | | | | 138 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | | | | 180 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | | | | 33 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | | | | 18 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 213 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 213 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | POMT1 CL E G H | 10585 | 9202 | OMIM:613155 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 1 | | | | 213 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | | | | 213 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 221 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:236670 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 | | | | 221 | | |
HP:0006817 | HP:0002951 | Partial absence of cerebellar vermis | 1 | POMT2 CL E G H | 29954 | 19743 | OMIM:613150 | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 | | | | 221 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | | | | 221 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PPFIBP1 CL E G H | 8496 | 9249 | OMIM:620024 | | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PPP1CB CL E G H | 5500 | 9282 | OMIM:617506 | Noonan syndrome-like disorder with loose anagen hair 2 | | | | 9 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PPP1R21 CL E G H | 129285 | 30595 | OMIM:619383 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, FACIAL DYSMORPHISM, AND BRAIN ABNORMALITIES; NEDHFBA | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619909 | | | | | 2 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PRKDC CL E G H | 5591 | 9413 | OMIM:615966 | Immunodeficiency 26 with or without neurologic abnormalities | HP:0040283 - Occasional | | | 42 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PSAT1 CL E G H | 29968 | 19129 | OMIM:610992 | Phosphoserine aminotransferase deficiency | . | | | 27 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PSAT1 CL E G H | 29968 | 19129 | ORPHA:284417 | Phosphoserine aminotransferase deficiency, infantile/juvenile form | HP:0040283 - Occasional | | | 27 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040282 - Frequent | | | 948 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | PTF1A CL E G H | 256297 | 23734 | OMIM:609069 | Pancreatic and cerebellar agenesis | | | | 22 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RAB11B CL E G H | 9230 | 9761 | OMIM:617807 | Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter | . | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RAB18 CL E G H | 22931 | 14244 | ORPHA:2510 | Micro syndrome | HP:0040283 - Occasional | | | 85 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | ORPHA:2510 | Micro syndrome | HP:0040283 - Occasional | | | 90 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RAB3GAP1 CL E G H | 22930 | 17063 | OMIM:600118 | Warburg micro syndrome 1 | | | | 90 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RAB3GAP2 CL E G H | 25782 | 17168 | ORPHA:2510 | Micro syndrome | HP:0040283 - Occasional | | | 135 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RAC1 CL E G H | 5879 | 9801 | OMIM:617751 | Mental retardation, autosomal dominant 48 | | | | 3 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 73 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RARS2 CL E G H | 57038 | 21406 | OMIM:611523 | Pontocerebellar hypoplasia, type 6 | | | | 93 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RBM10 CL E G H | 8241 | 9896 | OMIM:311900 | Tarp syndrome | . | | | 16 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RBM8A CL E G H | 9939 | 9905 | OMIM:274000 | Thrombocytopenia-absent radius syndrome | | | | 10 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RERE CL E G H | 473 | 9965 | ORPHA:494344 | RERE-related neurodevelopmental syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | | | | 3 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | | | | 15 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | RNU4ATAC CL E G H | 100151683 | 34016 | OMIM:210710 | Microcephalic osteodysplastic primordial dwarfism, type I | . | | | 15 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RPE65 CL E G H | 6121 | 10294 | OMIM:204100 | Leber congenital amaurosis, type II | . | | | 129 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | | | | 109 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 167 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 167 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | | | | 167 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040282 - Frequent | | | 309 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | | | | 16 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SEMA6B CL E G H | 10501 | 10739 | OMIM:618876 | EPILEPSY, PROGRESSIVE MYOCLONIC, 11; EPM11 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 66 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SETD2 CL E G H | 29072 | 18420 | ORPHA:821 | Sotos syndrome | HP:0040283 - Occasional | | | 60 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 2 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SLC25A19 CL E G H | 60386 | 14409 | ORPHA:99742 | Amish lethal microcephaly | HP:0040281 - Very frequent | | | 36 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SLC25A24 CL E G H | 29957 | 20662 | OMIM:612289 | Fontaine progeroid syndrome | . | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | | | | 27 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | | | | 617 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | | | | 617 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | | | | 87 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | | | | 47 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | | | | 47 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | | | | 14 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SRD5A3 CL E G H | 79644 | 25812 | OMIM:612379 | Congenital disorder of glycosylation, type IQ | . | | | 80 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SRPX2 CL E G H | 27286 | 30668 | ORPHA:98889 | Bilateral perisylvian polymicrogyria | HP:0040283 - Occasional | | | 50 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SUFU CL E G H | 51684 | 16466 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 124 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | SYT2 CL E G H | 127833 | 11510 | OMIM:619461 | MYASTHENIC SYNDROME, CONGENITAL, 7B, PRESYNAPTIC, AUTOSOMAL RECESSIVE; CMS7B | | | | 4 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TAF1 CL E G H | 6872 | 11535 | OMIM:300966 | MENTAL RETARDATION, X-LINKED, SYNDROMIC 33; MRXS33 | | | | 21 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TBC1D20 CL E G H | 128637 | 16133 | ORPHA:2510 | Micro syndrome | HP:0040283 - Occasional | | | 15 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | | | | 271 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | | | | 271 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TBCK CL E G H | 93627 | 28261 | OMIM:616900 | Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 | | | | 13 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 45 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TCTN1 CL E G H | 79600 | 26113 | OMIM:614173 | Joubert syndrome 13 | | | | 45 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 76 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | | | | 76 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | TCTN3 CL E G H | 26123 | 24519 | OMIM:614815 | Joubert syndrome 18 | | | | 31 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | | | | 31 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 31 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | TFAP2A CL E G H | 7020 | 11742 | OMIM:113620 | Branchiooculofacial syndrome | . | | | 12 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | THG1L CL E G H | 54974 | 26053 | OMIM:618800 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 28; SCAR28 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | THOC2 CL E G H | 57187 | 19073 | OMIM:300957 | Mental retardation, X-linked 12/35 | | | | 5 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMCO1 CL E G H | 54499 | 18188 | ORPHA:1394 | Cerebrofaciothoracic dysplasia | HP:0040282 - Frequent | | | 6 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | | | | 4 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM138 CL E G H | 51524 | 26944 | OMIM:614465 | JOUBERT SYNDROME 16; JBTS16 | | | | 39 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM138 CL E G H | 51524 | 26944 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 39 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 45 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | | | | 45 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | | | | 45 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 45 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM218 CL E G H | 219854 | 27344 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM218 CL E G H | 219854 | 27344 | OMIM:619562 | JOUBERT SYNDROME 39; JBTS39 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 33 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | | | | 33 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 82 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | | | | 82 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 82 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:220497 | Joubert syndrome with renal defect | HP:0040281 - Very frequent | | | 82 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | | | | 82 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:216360 | Coach syndrome 1 | . | | | 166 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | 166 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | . | | | 166 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:1454 | Joubert syndrome with hepatic defect | HP:0040281 - Very frequent | | | 166 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | | | | 166 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TOGARAM1 CL E G H | 23116 | 19959 | ORPHA:475 | Joubert syndrome | HP:0040281 - Very frequent | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TOGARAM1 CL E G H | 23116 | 19959 | OMIM:619185 | JOUBERT SYNDROME 37; JBTS37 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TOPORS CL E G H | 10210 | 21653 | ORPHA:2754 | Orofaciodigital syndrome type 6 | HP:0040283 - Occasional | | | 61 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | | | | 158 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TRIP13 CL E G H | 9319 | 12307 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | | | | 2 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TRRAP CL E G H | 8295 | 12347 | OMIM:618454 | Developmental delay with or without dysmorphic facies and autism | . | | | 2 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 3 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 84 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TSEN2 CL E G H | 80746 | 28422 | OMIM:612389 | Pontocerebellar hypoplasia, type 2B | | | | 84 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 57 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TSEN34 CL E G H | 79042 | 15506 | OMIM:612390 | PONTOCEREBELLAR HYPOPLASIA, TYPE 2C; PCH2C | | | | 57 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 102 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | | | | 106 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TUBA1A CL E G H | 7846 | 20766 | OMIM:611603 | Lissencephaly 3 | . | | | 106 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:171680 | Lissencephaly due to TUBA1A mutation | | | | 106 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 106 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TUBB CL E G H | 203068 | 20778 | OMIM:615771 | Cortical dysplasia, complex, with other brain malformations 6 | | | | 14 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TUBB CL E G H | 203068 | 20778 | OMIM:156610 | Skin creases, congenital symmetric circumferential, 1 | | | | 14 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 39 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:300570 | Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation | HP:0040283 - Occasional | | | 64 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 64 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | | | | 2 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | USP9X CL E G H | 8239 | 12632 | OMIM:300968 | Mental retardation, X-linked 99, syndromic, female-restricted | | | | 27 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 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:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | VPS35L CL E G H | 57020 | 24641 | OMIM:619135 | RITSCHER-SCHINZEL SYNDROME 3; RTSC3 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | WARS2 CL E G H | 10352 | 12730 | ORPHA:572798 | WARS2-related combined oxidative phosphorylation defect | HP:0040283 - Occasional | | | 2 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | | | | 83 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | | | | 83 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | WDR35 CL E G H | 57539 | 29250 | ORPHA:93271 | Short rib-polydactyly syndrome, Verma-Naumoff type | | | | 136 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | | | | 14 | | |
HP:0006817 | HP:0007063 | Aplasia of the inferior half of the cerebellar vermis | 1 | WDR81 CL E G H | 124997 | 26600 | OMIM:610185 | Cerebellar ataxia, mental retardation, and dysequilibrium syndrome2 | . | | | 27 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | WDR81 CL E G H | 124997 | 26600 | OMIM:617967 | Hydrocephalus, congenital, 3, with brain anomalies | | | | 27 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | WLS CL E G H | 79971 | 30238 | OMIM:619648 | ZAKI SYNDROME; ZKS | | | | | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040284 - Very rare | | | 362 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261552 | Mowat-Wilson syndrome due to a ZEB2 point mutation | HP:0040284 - Very rare | | | 362 | | |
HP:0006817 | HP:0002335 | Agenesis of cerebellar vermis | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040284 - Very rare | | | 362 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ZEB2 CL E G H | 9839 | 14881 | ORPHA:261537 | Mowat-Wilson syndrome due to monosomy 2q22 | HP:0040284 - Very rare | | | 362 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | | | | 5 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ZIC1 CL E G H | 7545 | 12872 | OMIM:618736 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS | | | | 5 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ZNF423 CL E G H | 23090 | 16762 | ORPHA:2318 | Joubert syndrome with oculorenal defect | HP:0040281 - Very frequent | | | 49 | | |
HP:0006817 | HP:0001320 | Cerebellar vermis hypoplasia | 1 | ZNF423 CL E G H | 23090 | 16762 | OMIM:614844 | Nephronophthisis 14 | . | | | 49 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | AFF3 CL E G H | 3899 | 6473 | OMIM:619297 | KINSSHIP SYNDROME; KINS | | | | 1 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040284 - Very rare | | | 37 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | AP1S2 CL E G H | 8905 | 560 | OMIM:304340 | Pettigrew syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ARID1A CL E G H | 8289 | 11110 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 88 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ARID1A CL E G H | 8289 | 11110 | OMIM:614607 | Coffin-Siris syndrome 2 | | | | 88 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ARID1B CL E G H | 57492 | 18040 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 219 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ARID1B CL E G H | 57492 | 18040 | OMIM:135900 | Coffin-Siris syndrome 1 | . | | | 219 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ARID2 CL E G H | 196528 | 18037 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 25 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ARMC9 CL E G H | 80210 | 20730 | OMIM:617622 | JOUBERT SYNDROME 30; JBTS30 | | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ASXL1 CL E G H | 171023 | 18318 | ORPHA:97297 | Bohring-Opitz syndrome | HP:0040283 - Occasional | | | 145 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ASXL1 CL E G H | 171023 | 18318 | OMIM:605039 | Bohring-Opitz syndrome | . | | | 145 | | |
HP:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | ASXL3 CL E G H | 80816 | 29357 | OMIM:615485 | BAINBRIDGE-ROPERS SYNDROME; BRPS | | | | 49 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ATP6V0A2 CL E G H | 23545 | 18481 | OMIM:219200 | Cutis laxa, autosomal recessive, type IIA | . | | | 140 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ATP6V0A2 CL E G H | 23545 | 18481 | ORPHA:2834 | Wrinkly skin syndrome | HP:0040282 - Frequent | | | 140 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ATP6V1B2 CL E G H | 526 | 854 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 5 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | B3GALNT2 CL E G H | 148789 | 28596 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 43 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | B4GALT1 CL E G H | 2683 | 924 | ORPHA:79332 | B4GALT1-CDG | HP:0040281 - Very frequent | | | 85 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | B4GALT1 CL E G H | 2683 | 924 | OMIM:607091 | Congenital disorder of glycosylation, type IID | . | | | 85 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | B4GAT1 CL E G H | 11041 | 15685 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 17 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | B9D1 CL E G H | 27077 | 24123 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 28 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | B9D2 CL E G H | 80776 | 28636 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 34 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | B9D2 CL E G H | 80776 | 28636 | OMIM:614175 | Meckel syndrome, type 10 | | | | 34 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | BCOR CL E G H | 54880 | 20893 | OMIM:300166 | Microphthalmia, syndromic 2 | | | | 101 | | |
HP:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | BMP4 CL E G H | 652 | 1071 | ORPHA:139471 | Microphthalmia with brain and digit anomalies | HP:0040283 - Occasional | | | 38 | | |
HP:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | BMP4 CL E G H | 652 | 1071 | OMIM:607932 | Microphthalmia, syndromic 6 | | | | 38 | | |
HP:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0006817 | 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:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | BUB1B CL E G H | 701 | 1149 | OMIM:257300 | Mosaic variegated aneuploidy syndrome 1 | . | | | 76 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | BUB3 CL E G H | 9184 | 1151 | ORPHA:1052 | Mosaic variegated aneuploidy syndrome | HP:0040281 - Very frequent | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | C2CD3 CL E G H | 26005 | 24564 | ORPHA:434179 | Orofaciodigital syndrome type 14 | HP:0040282 - Frequent | | | 27 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | C2CD3 CL E G H | 26005 | 24564 | OMIM:615948 | Orofaciodigital syndrome XIV | . | | | 27 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | CC2D2A CL E G H | 57545 | 29253 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 247 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | CCDC22 CL E G H | 28952 | 28909 | ORPHA:7 | 3C syndrome | HP:0040281 - Very frequent | | | 33 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | CCDC22 CL E G H | 28952 | 28909 | OMIM:300963 | Ritscher-Schinzel syndrome 2 | . | | | 33 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | CDKN1C CL E G H | 1028 | 1786 | OMIM:130650 | Beckwith-Wiedemann syndrome | HP:0040283 - Occasional | | | 114 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | CEP290 CL E G H | 80184 | 29021 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 342 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | CEP290 CL E G H | 80184 | 29021 | OMIM:611134 | Meckel syndrome, type 4 | | | | 342 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | CHD7 CL E G H | 55636 | 20626 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 515 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | COL4A1 CL E G H | 1282 | 2202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 193 | | |
HP:0006817 | 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:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | CRPPA CL E G H | 729920 | 37276 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | CSF1R CL E G H | 1436 | 2433 | OMIM:618476 | Brain abnormalities, neurodegeneration, and dysosteosclerosis | | | | 149 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | DAG1 CL E G H | 1605 | 2666 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 108 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | DHCR7 CL E G H | 1717 | 2860 | OMIM:270400 | Smith-Lemli-Opitz syndrome | | | | 159 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | DOK7 CL E G H | 285489 | 26594 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040283 - Occasional | | | 91 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | DPF2 CL E G H | 5977 | 9964 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0006817 | 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:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | DPYSL5 CL E G H | 56896 | 20637 | OMIM:619435 | RITSCHER-SCHINZEL SYNDROME 4; RTSC4 | | | | | | |
HP:0006817 | 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:0006817 | 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:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | EBP CL E G H | 10682 | 3133 | OMIM:302960 | Chondrodysplasia punctata 2, X-linked dominant | . | | | 51 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | EBP CL E G H | 10682 | 3133 | OMIM:300960 | Mend syndrome | . | | | 51 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | EBP CL E G H | 10682 | 3133 | ORPHA:401973 | MEND syndrome | HP:0040282 - Frequent | | | 51 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ESCO2 CL E G H | 157570 | 27230 | ORPHA:2319 | Juberg-Hayward syndrome | HP:0040283 - Occasional | | | 92 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | EVC CL E G H | 2121 | 3497 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 209 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | EVC2 CL E G H | 132884 | 19747 | OMIM:225500 | Ellis-Van creveld syndrome | . | | | 137 | | |
HP:0006817 | 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:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | FGFR1 CL E G H | 2260 | 3688 | OMIM:613001 | Encephalocraniocutaneous lipomatosis | . | | | 172 | | |
HP:0006817 | 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:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | FKRP CL E G H | 79147 | 17997 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 157 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | FKTN CL E G H | 2218 | 3622 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 184 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | FLVCR2 CL E G H | 55640 | 20105 | OMIM:225790 | Proliferative vasculopathy and hydranencephaly-hydrocephaly syndrome | . | | | 47 | | |
HP:0006817 | 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:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | GEMIN4 CL E G H | 50628 | 15717 | OMIM:617913 | Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | | | | 1 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | GJB2 CL E G H | 2706 | 4284 | ORPHA:477 | KID syndrome | | | | 199 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | GJB6 CL E G H | 10804 | 4288 | ORPHA:477 | KID syndrome | | | | 56 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | GLI3 CL E G H | 2737 | 4319 | ORPHA:36 | Acrocallosal syndrome | HP:0040282 - Frequent | | | 270 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | GPC3 CL E G H | 2719 | 4451 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | 73 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | GPC4 CL E G H | 2239 | 4452 | ORPHA:373 | Simpson-Golabi-Behmel syndrome | HP:0040283 - Occasional | | | | | |
HP:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | GRM1 CL E G H | 2911 | 4593 | OMIM:614831 | SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 13; SCAR13 | | | | 8 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | GTPBP2 CL E G H | 54676 | 4670 | OMIM:617988 | Jaberi-Elahi syndrome | | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | H19-ICR CL E G H | 105259599 | | OMIM:130650 | Beckwith-Wiedemann syndrome | HP:0040283 - Occasional | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | HRAS CL E G H | 3265 | 5173 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040283 - Occasional | | | 113 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | HYLS1 CL E G H | 219844 | 26558 | OMIM:236680 | Hydrolethalus syndrome 1 | . | | | 31 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | IGF2 CL E G H | 3481 | 5466 | OMIM:130650 | Beckwith-Wiedemann syndrome | HP:0040283 - Occasional | | | 9 | | |
HP:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | INTS1 CL E G H | 26173 | 24555 | OMIM:618571 | NEURODEVELOPMENTAL DISORDER WITH CATARACTS, POOR GROWTH, AND DYSMORPHIC FACIES; NDCAGF | | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | KCNQ1 CL E G H | 3784 | 6294 | OMIM:130650 | Beckwith-Wiedemann syndrome | HP:0040283 - Occasional | | | 730 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | KCNQ1OT1 CL E G H | 10984 | 6295 | OMIM:130650 | Beckwith-Wiedemann syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006817 | 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:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | KIAA0753 CL E G H | 9851 | 29110 | OMIM:619476 | JOUBERT SYNDROME 38; JBTS38 | | | | 4 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | KIF7 CL E G H | 374654 | 30497 | ORPHA:36 | Acrocallosal syndrome | HP:0040282 - Frequent | | | 167 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | KRAS CL E G H | 3845 | 6407 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040283 - Occasional | | | 196 | | |
HP:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | L1CAM CL E G H | 3897 | 6470 | OMIM:304100 | Corpus callosum, partial agenesis of, X-linked | . | | | 134 | | |
HP:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0006817 | 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:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 136 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | . | | | | | |
HP:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | MID1 CL E G H | 4281 | 7095 | ORPHA:2745 | Opitz GBBB syndrome | HP:0040283 - Occasional | | | 57 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | MKS1 CL E G H | 54903 | 7121 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 127 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | MKS1 CL E G H | 54903 | 7121 | OMIM:249000 | Meckel syndrome 1 | . | | | 127 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | MTM1 CL E G H | 4534 | 7448 | OMIM:310400 | Myopathy, centronuclear, X-linked | | | | 185 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | MUSK CL E G H | 4593 | 7525 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040283 - Occasional | | | 72 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | MYOD1 CL E G H | 4654 | 7611 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040283 - Occasional | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | NPHP3 CL E G H | 27031 | 7907 | OMIM:267010 | MECKEL SYNDROME, TYPE 7; MKS7 | | | | 157 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | NPHP3 CL E G H | 27031 | 7907 | OMIM:208540 | Renal-Hepatic-Pancreatic dysplasia | HP:0040283 - Occasional | | | 157 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | NRAS CL E G H | 4893 | 7989 | ORPHA:2612 | Linear nevus sebaceus syndrome | HP:0040283 - Occasional | | | 102 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | NRAS CL E G H | 4893 | 7989 | OMIM:249400 | Neurocutaneous melanosis, somatic | HP:0040283 - Occasional | | | 102 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | NUP88 CL E G H | 4927 | 8067 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040283 - Occasional | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | OFD1 CL E G H | 8481 | 2567 | ORPHA:2750 | Orofaciodigital syndrome type 1 | HP:0040283 - Occasional | | | 201 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | PHGDH CL E G H | 26227 | 8923 | OMIM:256520 | Neu-Laxova syndrome | . | | | 37 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | PIEZO2 CL E G H | 63895 | 26270 | OMIM:248700 | Marden-Walker syndrome | . | | | 77 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | PIGN CL E G H | 23556 | 8967 | ORPHA:2059 | Fryns syndrome | HP:0040283 - Occasional | | | 37 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | PLCH1 CL E G H | 23007 | 29185 | OMIM:619895 | | | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | PLG CL E G H | 5340 | 9071 | ORPHA:722 | Hypoplasminogenemia | HP:0040283 - Occasional | | | 11 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | PLG CL E G H | 5340 | 9071 | OMIM:217090 | Plasminogen deficiency, type iligneous conjunctivitis, included | . | | | 11 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | PMM2 CL E G H | 5373 | 9115 | ORPHA:79318 | PMM2-CDG | HP:0040284 - Very rare | | | 150 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | POLR3A CL E G H | 11128 | 30074 | OMIM:264090 | Wiedemann-Rautenstrauch syndrome | . | | | 138 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 180 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | POMGNT2 CL E G H | 84892 | 25902 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 33 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | POMK CL E G H | 84197 | 26267 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 18 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | POMT1 CL E G H | 10585 | 9202 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 213 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | POMT2 CL E G H | 29954 | 19743 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | 221 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | RAPSN CL E G H | 5913 | 9863 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040283 - Occasional | | | 73 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | RNF113A CL E G H | 7737 | 12974 | OMIM:300953 | Trichothiodystrophy 5, nonphotosensitive | . | | | 3 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | RPGRIP1 CL E G H | 57096 | 13436 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 109 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | RPGRIP1L CL E G H | 23322 | 29168 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 167 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | RXYLT1 CL E G H | 10329 | 13530 | ORPHA:899 | Walker-Warburg syndrome | HP:0040282 - Frequent | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SEMA3E CL E G H | 9723 | 10727 | ORPHA:138 | CHARGE syndrome | HP:0040283 - Occasional | | | 16 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SLC18A3 CL E G H | 6572 | 10936 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040283 - Occasional | | | 2 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SLC35A2 CL E G H | 7355 | 11022 | ORPHA:356961 | SLC35A2-CDG | HP:0040284 - Very rare | | | 27 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SMARCA4 CL E G H | 6597 | 11100 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 617 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SMARCA4 CL E G H | 6597 | 11100 | OMIM:614609 | Coffin-Siris syndrome 4 | | | | 617 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SMARCB1 CL E G H | 6598 | 11103 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 87 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SMARCC2 CL E G H | 6601 | 11105 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 1 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SMARCD1 CL E G H | 6602 | 11106 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SMARCE1 CL E G H | 6605 | 11109 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 47 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SMARCE1 CL E G H | 6605 | 11109 | OMIM:616938 | Coffin-Siris syndrome 5 | . | | | 47 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SMG9 CL E G H | 56006 | 25763 | OMIM:616920 | Heart and brain malformation syndrome | | | | 2 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SOX11 CL E G H | 6664 | 11191 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | SOX4 CL E G H | 6659 | 11200 | ORPHA:1465 | Coffin-Siris syndrome | HP:0040283 - Occasional | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TBC1D24 CL E G H | 57465 | 29203 | ORPHA:79500 | DOORS syndrome | HP:0040284 - Very rare | | | 271 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TBC1D24 CL E G H | 57465 | 29203 | OMIM:220500 | Doors syndrome | HP:0040283 - Occasional | | | 271 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TCTN1 CL E G H | 79600 | 26113 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TCTN2 CL E G H | 79867 | 25774 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 76 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TCTN3 CL E G H | 26123 | 24519 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 31 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TMEM107 CL E G H | 84314 | 28128 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 4 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TMEM138 CL E G H | 51524 | 26944 | OMIM:614465 | JOUBERT SYNDROME 16; JBTS16 | | | | 39 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TMEM216 CL E G H | 51259 | 25018 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 45 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TMEM216 CL E G H | 51259 | 25018 | OMIM:603194 | Meckel syndrome, type 2 | HP:0040283 - Occasional | | | 45 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 33 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TMEM231 CL E G H | 79583 | 37234 | ORPHA:2752 | Orofaciodigital syndrome type 3 | HP:0040282 - Frequent | | | 33 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TMEM237 CL E G H | 65062 | 14432 | OMIM:614424 | Joubert syndrome 14 | . | | | 82 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TMEM237 CL E G H | 65062 | 14432 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 82 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TMEM67 CL E G H | 91147 | 28396 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 166 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TMEM67 CL E G H | 91147 | 28396 | OMIM:607361 | Meckel syndrome 3 | | | | 166 | | |
HP:0006817 | HP:0007068 | Inferior cerebellar vermis hypoplasia | 2 | TRAPPC9 CL E G H | 83696 | 30832 | OMIM:613192 | Mental retardation, autosomal recessive 13 | | | | 158 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:994 | Fetal akinesia deformation sequence | HP:0040283 - Occasional | | | 106 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | TXNDC15 CL E G H | 79770 | 20652 | ORPHA:564 | Meckel syndrome | HP:0040283 - Occasional | | | 2 | | |
HP:0006817 | 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:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | WASHC5 CL E G H | 9897 | 28984 | ORPHA:7 | 3C syndrome | HP:0040281 - Very frequent | | | 83 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | WASHC5 CL E G H | 9897 | 28984 | OMIM:220210 | Ritscher-Schinzel syndrome 1 | . | | | 83 | | |
HP:0006817 | 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:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | WDR73 CL E G H | 84942 | 25928 | OMIM:251300 | Galloway-mowat syndrome 1 | HP:0040283 - Occasional | | | 14 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | WDR81 CL E G H | 124997 | 26600 | OMIM:617967 | Hydrocephalus, congenital, 3, with brain anomalies | . | | | 27 | | |
HP:0006817 | HP:0001305 | Dandy-Walker malformation | 2 | ZIC1 CL E G H | 7545 | 12872 | OMIM:616602 | Craniosynostosis 6 | HP:0040283 - Occasional | | | 5 | | |
HP:0006817 | 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 | | |