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| Ataxia and cerebellar anomalies - narrow panel v3.20 | CASK | Arina Puzriakova Publications for gene: CASK were set to 35149592 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.19 | CASK | Arina Puzriakova Publications for gene: CASK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v0.5 | CASK |
Ellen McDonagh gene: CASK was added gene: CASK was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: CASK were set to FG syndrome 4, 300422; Mental retardation, with or without nystagmus; Mental retardation and microcephaly with pontine and cerebellar hypoplasia; Pontocerebellar Hypoplasia; FG syndrome 4; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; Mental retardation, with or without nystagmus, 300422 |
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