SNOMED CT

Last uploaded: January 16, 2025
Id http://purl.bioontology.org/ontology/SNOMEDCT/764861005
http://purl.bioontology.org/ontology/SNOMEDCT/764861005
Preferred Name

Intellectual disability Birk-Barel type

Definitions
A rare condition with characteristics of intellectual disability, delayed development of speech and motor skills, hypotonia from birth, lethargy, weak cry, facial weakness, feeding difficulties, failure to thrive. Dysphagia often lasts into adolescence. While muscle tone may improve over time, affected individuals usually have some weakness into adulthood. The weakness can lead to permanent contractures and scoliosis. Also associated with unusual facial features, cleft palate, long neck, narrow chest, tapered fingers. Caused by mutations in the KCNK9 gene, which alter TASK3 channels reducing the flow of ions through the channels and disrupting normal neuron development and excitability. Follows an autosomal dominant pattern of inheritance. About 20 percent of cases result from new mutations in the gene and occur in people with no history of the disorder in their family.
Synonyms
Intellectual disability Birk-Barel type (disorder)
Intellectual disability, hypotonia, facial dysmorphism syndrome
Birk Barel mental retardation dysmorphism syndrome
KCNK9 (potassium two pore domain channel subfamily K member 9) imprinting syndrome
Type http://www.w3.org/2002/07/owl#Class
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