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Birk-Barel syndrome
rareBirk-Barel syndrome is an inherited condition characterized by intellectual disability, hypotonia, hyperactivity, and unusual facial features. The condition is caused by mutations in the KCNK9 gene on chromosome 8. This condition demonstrates dominant inheritance with paternal imprinting, which means that a mutation in the maternal gene will result in disease, but a mutation in the paternal gene will have no effect (imprinted with paternal silencing).
- Identifiers
- MONDO:0012856 OMIM:612292Orphanet:166108
- Causal genes
- KCNK9
- Part of
- Autosomal dominant disease
- Also known as
- Birk Barel intellectual disability dysmorphism syndrome · Birk Barel mental retardation dysmorphism syndrome · BIRK-Barel intellectual disability dysmorphism syndrome · BIRK-Barel mental retardation dysmorphism syndrome · intellectual disability-hypotonia-facial dysmorphism syndrome
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