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disease: Birk Barel mental retardation dysmorphism syndrome

id1027
nameBirk Barel mental retardation dysmorphism syndrome
descriptionKCNK9 imprinting syndrome is characterized by congenital central hypotonia (manifest as decreased movement, lethargy, and weak cry), severe feeding difficulties (resulting from facial weakness and poor suck), delayed development/intellectual disability, and dysmorphic manifestations. Poor feeding can cause failure to thrive during infancy unless managed appropriately. Significant dysphagia of solid foods typically persists until puberty. Intellectual disability can be severe. To date 19 individuals with a molecularly confirmed diagnosis have been reported.
variant-disease NM_001282534.2(KCNK9):c.392G>A (p.Arg131His) AND Birk Barel mental retardation dysmorphism syndrome
NM_001282534.2(KCNK9):c.706G>A (p.Gly236Arg) AND Birk Barel mental retardation dysmorphism syndrome
NM_001282534.2(KCNK9):c.706G>C (p.Gly236Arg) AND Birk Barel mental retardation dysmorphism syndrome
NM_001282534.2(KCNK9):c.223G>A (p.Gly75Ser) AND Birk Barel mental retardation dysmorphism syndrome