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| Ataxia and cerebellar anomalies - narrow panel v0.5 | OPHN1 |
Ellen McDonagh gene: OPHN1 was added gene: OPHN1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Green Mode of inheritance for gene: OPHN1 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: OPHN1 were set to XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance; Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486; Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance |
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