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Birk-Barel syndrome

http://purl.obolibrary.org/obo/DOID_0050675

A syndrome that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24. [ http://purl.obolibrary.org/obo/ECO_0007637 ]

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Term info

Label

Birk-Barel syndrome

Synonyms

Birk-Barel mental retardation dysmorphism syndrome

database cross reference

comment

OMIM mapping confirmed by DO. [SN].

has obo namespace

disease_ontology

DOID:0050675

Term relations

Subclass of:

autosomal dominant disease
syndrome
has material basis in some autosomal dominant inheritance