Input | HPO ID | HPO term | Distance | Gene | Gene id entrez | HGNC ID | DiseaseId | DiseaseName | Frequency | Onset | HGMD variants | ClinVar variants |
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HPO disease - gene - phenotype typical associations: |
HPO disease - gene - phenotype less frequent non-typical associations: |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | | | | 88 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | ADGRG1 CL E G H | 9289 | 4512 | OMIM:606854 | Polymicrogyria, bilateral frontoparietal | | | | 88 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | | | | 31 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | | | | 175 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | | | | 37 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | APC2 CL E G H | 10297 | 24036 | OMIM:618677 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10 | | | | 1 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | | | | 1 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | | | | 17 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | | | | 11 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | | | | 1 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | | | | 43 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | | | | 7 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | | | | 7 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | | | | 54 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | CCDC88C CL E G H | 440193 | 19967 | ORPHA:423275 | Spinocerebellar ataxia type 40 | | | | 54 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | CDON CL E G H | 50937 | 17104 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 200 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | | | | 57 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | DAG1 CL E G H | 1605 | 2666 | ORPHA:370997 | Muscle-eye-brain disease with bilateral multicystic leucodystrophy | HP:0040282 - Frequent | | | 108 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 22 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 3 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | | | | 11 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | DOCK7 CL E G H | 85440 | 19190 | OMIM:615859 | Epileptic encephalopathy, early infantile, 23 | | | | 11 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | | | | 27 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | | | | 27 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | | | | 40 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | EXOSC1 CL E G H | 51013 | 17286 | OMIM:619304 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F | | | | | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | | | | 76 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 17 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 157 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | FKRP CL E G H | 79147 | 17997 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 157 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | | | | 157 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | | | | 8 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 48 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | GALC CL E G H | 2581 | 4115 | ORPHA:206448 | Adult Krabbe disease | HP:0040282 - Frequent | | | 160 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 2 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 173 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 34 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 34 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | GMPPB CL E G H | 29925 | 22932 | OMIM:615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | | | | 34 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | | | | 18 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | IDH1 CL E G H | 3417 | 5382 | ORPHA:99646 | Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria | | | | 15 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | | | | 35 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | | | | 411 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | LARGE1 CL E G H | 9215 | 6511 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 136 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | LARGE1 CL E G H | 9215 | 6511 | OMIM:613154 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | | | | 136 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | | | | | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | MED23 CL E G H | 9439 | 2372 | OMIM:614249 | Mental retardation, autosomal recessive 18 | | | | 25 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 3 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | MINPP1 CL E G H | 9562 | 7102 | OMIM:619527 | PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16 | | | | 3 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | NODAL CL E G H | 4838 | 7865 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 45 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | | | | 85 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | | | | 6 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | PIGA CL E G H | 5277 | 8957 | OMIM:300868 | Multiple congenital anomalies-hypotonia-seizures syndrome 2 | . | | | 46 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | | | | 35 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 180 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613151 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | | | | 180 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 18 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 213 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 213 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | | | | 221 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370968 | Congenital muscular dystrophy with intellectual disability | HP:0040283 - Occasional | | | 221 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | | | | 13 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619909 | | | | | 2 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 665 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | PTEN CL E G H | 5728 | 9588 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | | | | 948 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | RELN CL E G H | 5649 | 9957 | OMIM:257320 | Lissencephaly 2 | | | | 334 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | | | | 90 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | | | | 113 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | SACS CL E G H | 26278 | 10519 | ORPHA:98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | HP:0040282 - Frequent | | | 309 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 66 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | | | | 162 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | SHH CL E G H | 6469 | 10848 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 67 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 32 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:619303 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E | | | | 14 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:618973 | NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB | | | | | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | | | | 14 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | STIL CL E G H | 6491 | 10879 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 99 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | | | | 14 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 1 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 32 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | | | | 166 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 6 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | | | | 6 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | | | | 2 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | | | | 2 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 3 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TSEN15 CL E G H | 116461 | 16791 | OMIM:617026 | Pontocerebellar hypoplasia, type 2F | | | | 3 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 84 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 57 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | | | | 102 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:166063 | Pontocerebellar hypoplasia type 4 | | | | 102 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | | | | 102 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:225753 | Pontocerebellar hypoplasia, type 4 | | | | 102 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TSEN54 CL E G H | 283989 | 27561 | OMIM:610204 | Pontocerebellar hypoplasia, type 5 | | | | 102 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 106 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | | | | 39 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 39 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 64 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | | | | 7 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | | | | 32 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | WNT1 CL E G H | 7471 | 12774 | OMIM:615220 | Osteogenesis imperfecta, type XV | | | | 12 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | ZIC1 CL E G H | 7545 | 12872 | OMIM:618736 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS | | | | 5 | | |
HP:0007361 | HP:0007361 | Abnormal pons morphology | 0 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280195 | Septopreoptic holoprosencephaly | | | | 34 | | |
HP:0007361 | HP:0030975 | Pontine tegmental cap | 1 | CL E G H | | | | | | | | | | |
HP:0007361 | HP:0041056 | Hot cross bun sign | 1 | CL E G H | | | | | | | | | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | ADGRG1 CL E G H | 9289 | 4512 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040282 - Frequent | | | 88 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | ADGRG1 CL E G H | 9289 | 4512 | OMIM:606854 | Polymicrogyria, bilateral frontoparietal | | | | 88 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | AGTPBP1 CL E G H | 23287 | 17258 | OMIM:618276 | Neurodegeneration, childhood-onset, with cerebellar atrophy | | | | 1 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | AGTPBP1 CL E G H | 23287 | 17258 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 1 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | AHCY CL E G H | 191 | 343 | ORPHA:88618 | S-adenosylhomocysteine hydrolase deficiency | HP:0040282 - Frequent | | | 31 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | | | | 175 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | ALG3 CL E G H | 10195 | 23056 | ORPHA:79321 | ALG3-CDG | HP:0040284 - Very rare | | | 37 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | APC2 CL E G H | 10297 | 24036 | OMIM:618677 | CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 10; CDCBM10 | | | | 1 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | ARHGEF2 CL E G H | 9181 | 682 | OMIM:617523 | Neurodevelopmental disorder with midbrain and hindbrain malformations | . | | | 1 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | ASNS CL E G H | 440 | 753 | OMIM:615574 | Asparagine synthetase deficiency | . | | | 17 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | | | | 11 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | ATXN8 CL E G H | 724066 | 32925 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | ATXN8OS CL E G H | 6315 | 10561 | ORPHA:98760 | Spinocerebellar ataxia type 8 | HP:0040283 - Occasional | | | 1 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | B3GALNT2 CL E G H | 148789 | 28596 | OMIM:615181 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 | . | | | 43 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | BRF1 CL E G H | 2972 | 11551 | ORPHA:444072 | Cerebellar-facial-dental syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | BRF1 CL E G H | 2972 | 11551 | OMIM:616202 | Cerebellofaciodental syndrome | HP:0040283 - Occasional | | | 7 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | CASK CL E G H | 8573 | 1497 | OMIM:300749 | Mental retardation and microcephaly with pontine and cerebellar hypoplasia | | | | 118 | | |
HP:0007361 | HP:0006879 | Pontocerebellar atrophy | 1 | CCDC88C CL E G H | 440193 | 19967 | OMIM:616053 | Spinocerebellar ataxia 40 | . | | | 54 | | |
HP:0007361 | HP:0006879 | Pontocerebellar atrophy | 1 | CCDC88C CL E G H | 440193 | 19967 | ORPHA:423275 | Spinocerebellar ataxia type 40 | HP:0040282 - Frequent | | | 54 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | CDON CL E G H | 50937 | 17104 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 200 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | | | | 342 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0007361 | HP:0006879 | Pontocerebellar atrophy | 1 | CLTC CL E G H | 1213 | 2092 | OMIM:617854 | Mental retardation, autosomal dominant 56 | | | | 1 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | | | | 57 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 57 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | DCC CL E G H | 1630 | 2701 | OMIM:617542 | GAZE PALSY, FAMILIAL HORIZONTAL, WITH PROGRESSIVE SCOLIOSIS, 2; HGPPS2 | | | | 36 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | DISP1 CL E G H | 84976 | 19711 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 22 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | DLL1 CL E G H | 28514 | 2908 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 3 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | DOCK7 CL E G H | 85440 | 19190 | ORPHA:411986 | Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome | HP:0040282 - Frequent | | | 11 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | DOCK7 CL E G H | 85440 | 19190 | OMIM:615859 | Epileptic encephalopathy, early infantile, 23 | . | | | 11 | | |
HP:0007361 | HP:0006879 | Pontocerebellar atrophy | 1 | DPM1 CL E G H | 8813 | 3005 | OMIM:608799 | Congenital disorder of glycosylation, type IE | . | | | 27 | | |
HP:0007361 | HP:0006879 | Pontocerebellar atrophy | 1 | DPM1 CL E G H | 8813 | 3005 | ORPHA:79322 | DPM1-CDG | HP:0040283 - Occasional | | | 27 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | EPG5 CL E G H | 57724 | 29331 | ORPHA:1493 | Vici syndrome | HP:0040282 - Frequent | | | 40 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | EXOSC1 CL E G H | 51013 | 17286 | OMIM:619304 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1F; PCH1F | | | | | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | EXOSC3 CL E G H | 51010 | 17944 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 38 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | EXOSC8 CL E G H | 11340 | 17035 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 4 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | EXOSC9 CL E G H | 5393 | 9137 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | | | |
HP:0007361 | HP:0006879 | Pontocerebellar atrophy | 1 | FA2H CL E G H | 79152 | 21197 | ORPHA:171629 | Autosomal recessive spastic paraplegia type 35 | HP:0040283 - Occasional | | | 76 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | FGF8 CL E G H | 2253 | 3686 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 17 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 157 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | FKRP CL E G H | 79147 | 17997 | OMIM:613153 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5 | . | | | 157 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | FLI1 CL E G H | 2313 | 3749 | ORPHA:370348 | Peripheral primitive neuroectodermal tumor | HP:0040284 - Very rare | | | 8 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | FOXH1 CL E G H | 8928 | 3814 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 48 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | GAS1 CL E G H | 2619 | 4165 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 2 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | GLI2 CL E G H | 2736 | 4318 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 173 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 34 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | GMPPB CL E G H | 29925 | 22932 | OMIM:615350 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 | . | | | 34 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | GPHN CL E G H | 10243 | 15465 | OMIM:615501 | Molybdenum cofactor deficiency, complementation group C | . | | | 18 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | | | | 111 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | | | | 24 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | | | | 35 | | |
HP:0007361 | HP:0006879 | Pontocerebellar atrophy | 1 | LAMA2 CL E G H | 3908 | 6482 | ORPHA:258 | Laminin subunit alpha 2-related congenital muscular dystrophy | HP:0040283 - Occasional | | | 411 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | LARGE1 CL E G H | 9215 | 6511 | OMIM:613154 | MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYEANOMALIES), TYPE A, 6 | . | | | 136 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | MAB21L1 CL E G H | 4081 | 6757 | OMIM:618479 | Cerebellar, ocular, craniofacial, and genital syndrome | HP:0040284 - Very rare | | | | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | MACF1 CL E G H | 23499 | 13664 | OMIM:618325 | Lissencephaly 9 with complex brainstem malformation | | | | 2 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | MDH1 CL E G H | 4190 | 6970 | OMIM:618959 | DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 88; DEE88 | | | | | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | MED23 CL E G H | 9439 | 2372 | OMIM:614249 | Mental retardation, autosomal recessive 18 | | | | 25 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 3 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | MINPP1 CL E G H | 9562 | 7102 | OMIM:619527 | PONTOCEREBELLAR HYPOPLASIA, TYPE 16; PCH16 | | | | 3 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | NODAL CL E G H | 4838 | 7865 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 45 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | | | | 85 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | PCLO CL E G H | 27445 | 13406 | OMIM:608027 | Pontocerebellar hypoplasia, type 3 | . | | | 6 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | PI4KA CL E G H | 5297 | 8983 | OMIM:619708 | GASTROINTESTINAL DEFECTS AND IMMUNODEFICIENCY SYNDROME 2; GIDID2 | | | | 11 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | PIGS CL E G H | 94005 | 14937 | OMIM:618143 | GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 18; GPIBD18 | | | | | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | | | | 150 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | POGZ CL E G H | 23126 | 18801 | ORPHA:468678 | White-Sutton syndrome | HP:0040284 - Very rare | | | 35 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 180 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | POMGNT1 CL E G H | 55624 | 19139 | OMIM:613151 | Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 | . | | | 180 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 18 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 213 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 221 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | PPIL1 CL E G H | 51645 | 9260 | OMIM:619301 | PONTOCEREBELLAR HYPOPLASIA, TYPE 14; PCH14 | | | | | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | | | | 13 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | PRDM13 CL E G H | 59336 | 13998 | OMIM:619909 | | | | | 2 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | PTCH1 CL E G H | 5727 | 9585 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 665 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | PTEN CL E G H | 5728 | 9588 | ORPHA:101070 | Bilateral frontoparietal polymicrogyria | HP:0040282 - Frequent | | | 948 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | RELN CL E G H | 5649 | 9957 | OMIM:257320 | Lissencephaly 2 | | | | 334 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | RERE CL E G H | 473 | 9965 | OMIM:616975 | Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart | | | | 16 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | ROBO3 CL E G H | 64221 | 13433 | OMIM:607313 | Gaze palsy, familial horizontal, with progressive scoliosis, 1 | . | | | 90 | | |
HP:0007361 | HP:0006879 | Pontocerebellar atrophy | 1 | RORA CL E G H | 6095 | 10258 | OMIM:618060 | INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT EPILEPSY OR CEREBELLAR ATAXIA; IDDECA | | | | 1 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0007361 | HP:0006850 | Hypoplasia of the ventral pons | 1 | SEPSECS CL E G H | 51091 | 30605 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 66 | | |
HP:0007361 | HP:0006879 | Pontocerebellar atrophy | 1 | SETX CL E G H | 23064 | 445 | OMIM:606002 | Spinocerebellar ataxia, autosomal recessive 1 | . | | | 162 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | SHH CL E G H | 6469 | 10848 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 67 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | SIX3 CL E G H | 6496 | 10889 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | SLC25A46 CL E G H | 91137 | 25198 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 14 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | SLC25A46 CL E G H | 91137 | 25198 | OMIM:619303 | PONTOCEREBELLAR HYPOPLASIA, TYPE 1E; PCH1E | | | | 14 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | SLC5A6 CL E G H | 8884 | 11041 | OMIM:618973 | NEURODEGENERATION, INFANTILE-ONSET, BIOTIN-RESPONSIVE; NERIB | | | | | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | SMARCA2 CL E G H | 6595 | 11098 | OMIM:619293 | BLEPHAROPHIMOSIS-IMPAIRED INTELLECTUAL DEVELOPMENT SYNDROME; BIS | | | | 146 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | SNX14 CL E G H | 57231 | 14977 | ORPHA:397709 | Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome | HP:0040283 - Occasional | | | 14 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | STIL CL E G H | 6491 | 10879 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 99 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | STUB1 CL E G H | 10273 | 11427 | ORPHA:412057 | Autosomal recessive cerebellar ataxia due to STUB1 deficiency | HP:0040283 - Occasional | | | 14 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TDGF1 CL E G H | 6997 | 11701 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 1 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TGIF1 CL E G H | 7050 | 11776 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 32 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | | | | 45 | | |
HP:0007361 | HP:0011932 | Abnormal superior cerebellar peduncle morphology | 1 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | | | | 166 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | | | | 6 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TOE1 CL E G H | 114034 | 15954 | OMIM:614969 | Pontocerebellar hypoplasia, type 7 | . | | | 6 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TRAPPC12 CL E G H | 51112 | 24284 | ORPHA:500144 | Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome | HP:0040282 - Frequent | | | 2 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TRAPPC12 CL E G H | 51112 | 24284 | OMIM:617669 | Encephalopathy, progressive, early-onset, with brain atrophy and spasticity | . | | | 2 | | |
HP:0007361 | HP:0006850 | Hypoplasia of the ventral pons | 1 | TSEN15 CL E G H | 116461 | 16791 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 3 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TSEN15 CL E G H | 116461 | 16791 | OMIM:617026 | Pontocerebellar hypoplasia, type 2F | | | | 3 | | |
HP:0007361 | HP:0006850 | Hypoplasia of the ventral pons | 1 | TSEN2 CL E G H | 80746 | 28422 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 84 | | |
HP:0007361 | HP:0006850 | Hypoplasia of the ventral pons | 1 | TSEN34 CL E G H | 79042 | 15506 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 57 | | |
HP:0007361 | HP:0006850 | Hypoplasia of the ventral pons | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:2524 | Pontocerebellar hypoplasia type 2 | HP:0040281 - Very frequent | | | 102 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:166063 | Pontocerebellar hypoplasia type 4 | | | | 102 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TSEN54 CL E G H | 283989 | 27561 | OMIM:277470 | Pontocerebellar hypoplasia, type 2A | . | | | 102 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TSEN54 CL E G H | 283989 | 27561 | OMIM:225753 | Pontocerebellar hypoplasia, type 4 | . | | | 102 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TSEN54 CL E G H | 283989 | 27561 | OMIM:610204 | Pontocerebellar hypoplasia, type 5 | | | | 102 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TUBA1A CL E G H | 7846 | 20766 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 106 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:300573 | Polymicrogyria due to TUBB2B mutation | HP:0040283 - Occasional | | | 39 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TUBB2B CL E G H | 347733 | 30829 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 39 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | TUBB3 CL E G H | 10381 | 20772 | ORPHA:467166 | Tubulinopathy-associated dysgyria | | | | 64 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | UBE2A CL E G H | 7319 | 12472 | ORPHA:163956 | X-linked intellectual disability, Nascimento type | HP:0040283 - Occasional | | | 7 | | |
HP:0007361 | HP:0006879 | Pontocerebellar atrophy | 1 | VPS4A CL E G H | 27183 | 13488 | OMIM:619273 | CIMDAG SYNDROME; CIMDAG | | | | 1 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | VPS51 CL E G H | 738 | 1172 | OMIM:618606 | PONTOCEREBELLAR HYPOPLASIA, TYPE 13; PCH13 | | | | | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | VRK1 CL E G H | 7443 | 12718 | ORPHA:2254 | Pontocerebellar hypoplasia type 1 | | | | 32 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | . | | | 32 | | |
HP:0007361 | HP:0006850 | Hypoplasia of the ventral pons | 1 | VRK1 CL E G H | 7443 | 12718 | OMIM:607596 | Pontocerebellar hypoplasia type 1A | . | | | 32 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | WNT1 CL E G H | 7471 | 12774 | OMIM:615220 | Osteogenesis imperfecta, type XV | . | | | 12 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | ZIC1 CL E G H | 7545 | 12872 | OMIM:618736 | STRUCTURAL BRAIN ANOMALIES WITH IMPAIRED INTELLECTUAL DEVELOPMENT AND CRANIOSYNOSTOSIS; BAIDCS | | | | 5 | | |
HP:0007361 | HP:0012110 | Hypoplasia of the pons | 1 | ZIC2 CL E G H | 7546 | 12873 | ORPHA:280195 | Septopreoptic holoprosencephaly | HP:0040283 - Occasional | | | 34 | | |
HP:0007361 | HP:0030286 | Atrophic superior cerebellar peduncle | 2 | CL E G H | | | | | | | | | | |
HP:0007361 | HP:0030285 | Splayed superior cerebellar peduncle | 2 | CL E G H | | | | | | | | | | |
HP:0007361 | HP:0011933 | Elongated superior cerebellar peduncle | 2 | AHI1 CL E G H | 54806 | 21575 | OMIM:608629 | Joubert syndrome 3 | . | | | 175 | | |
HP:0007361 | HP:0011933 | Elongated superior cerebellar peduncle | 2 | ARL3 CL E G H | 403 | 694 | OMIM:618161 | JOUBERT SYNDROME 35; JBTS35 | | | | 1 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | ATXN2 CL E G H | 6311 | 10555 | ORPHA:98756 | Spinocerebellar ataxia type 2 | HP:0040282 - Frequent | | | 11 | | |
HP:0007361 | HP:0002404 | Thickened superior cerebellar peduncle | 2 | CEP290 CL E G H | 80184 | 29021 | OMIM:610188 | Joubert syndrome 5 | . | | | 342 | | |
HP:0007361 | HP:0011933 | Elongated superior cerebellar peduncle | 2 | CLCN3 CL E G H | 1182 | 2021 | OMIM:619512 | NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES; NEDHYBA | | | | 2 | | |
HP:0007361 | HP:0011933 | Elongated superior cerebellar peduncle | 2 | CSPP1 CL E G H | 79848 | 26193 | OMIM:615636 | Joubert syndrome 21 | . | | | 57 | | |
HP:0007361 | HP:0011933 | Elongated superior cerebellar peduncle | 2 | CSPP1 CL E G H | 79848 | 26193 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040282 - Frequent | | | 57 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | FKRP CL E G H | 79147 | 17997 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 157 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | GMPPB CL E G H | 29925 | 22932 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 34 | | |
HP:0007361 | HP:0011933 | Elongated superior cerebellar peduncle | 2 | INPP5E CL E G H | 56623 | 21474 | OMIM:213300 | Joubert syndrome 1 | . | | | 111 | | |
HP:0007361 | HP:0011933 | Elongated superior cerebellar peduncle | 2 | KIAA0586 CL E G H | 9786 | 19960 | ORPHA:397715 | Joubert syndrome with Jeune asphyxiating thoracic dystrophy | HP:0040282 - Frequent | | | 24 | | |
HP:0007361 | HP:0011933 | Elongated superior cerebellar peduncle | 2 | LAMA1 CL E G H | 284217 | 6481 | ORPHA:370022 | Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome | HP:0040282 - Frequent | | | 35 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | MINPP1 CL E G H | 9562 | 7102 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 3 | | |
HP:0007361 | HP:0002404 | Thickened superior cerebellar peduncle | 2 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | . | | | 85 | | |
HP:0007361 | HP:0011933 | Elongated superior cerebellar peduncle | 2 | NPHP1 CL E G H | 4867 | 7905 | OMIM:609583 | Joubert syndrome 4 | . | | | 85 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | PMM2 CL E G H | 5373 | 9115 | OMIM:212065 | Congenital disorder of glycosylation, type Ia | . | | | 150 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | POMGNT1 CL E G H | 55624 | 19139 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 180 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | POMK CL E G H | 84197 | 26267 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 18 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | POMT1 CL E G H | 10585 | 9202 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 213 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | POMT2 CL E G H | 29954 | 19743 | ORPHA:370959 | Congenital muscular dystrophy with cerebellar involvement | HP:0040283 - Occasional | | | 221 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | PPP2R1A CL E G H | 5518 | 9302 | ORPHA:457284 | Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome | HP:0040283 - Occasional | | | 13 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | RTTN CL E G H | 25914 | 18654 | ORPHA:468631 | Microcephalic cortical malformations-short stature due to RTTN deficiency | HP:0040283 - Occasional | | | 113 | | |
HP:0007361 | HP:0011933 | Elongated superior cerebellar peduncle | 2 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0007361 | HP:0002404 | Thickened superior cerebellar peduncle | 2 | TMEM216 CL E G H | 51259 | 25018 | OMIM:608091 | Joubert syndrome 2 | . | | | 45 | | |
HP:0007361 | HP:0002404 | Thickened superior cerebellar peduncle | 2 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | . | | | 166 | | |
HP:0007361 | HP:0011933 | Elongated superior cerebellar peduncle | 2 | TMEM67 CL E G H | 91147 | 28396 | OMIM:610688 | Joubert syndrome 6 | . | | | 166 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | TOE1 CL E G H | 114034 | 15954 | ORPHA:284339 | Pontocerebellar hypoplasia type 7 | HP:0040282 - Frequent | | | 6 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | TSEN54 CL E G H | 283989 | 27561 | ORPHA:166063 | Pontocerebellar hypoplasia type 4 | HP:0040282 - Frequent | | | 102 | | |
HP:0007361 | HP:0006955 | Olivopontocerebellar hypoplasia | 2 | TSEN54 CL E G H | 283989 | 27561 | OMIM:610204 | Pontocerebellar hypoplasia, type 5 | . | | | 102 | | |