Birk-Barel syndrome
Birk-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).
MONDO:0000508
syndromic intellectual disability
excluded_subClassOf
MONDO:0000426
autosomal dominant disease
is_a
BIRK-Barel intellectual disability dysmorphism syndrome
exact
BIRK-Barel mental retardation dysmorphism syndrome
exact
Birk Barel intellectual disability dysmorphism syndrome
related
Birk Barel mental retardation dysmorphism syndrome
related
Birk-Barel syndrome
exact
KCNK9 Imprinting Syndrome
exact
intellectual disability-hypotonia-facial dysmorphism syndrome
exact
mental retardation with hypotonia and Facial Dysmorphism
related