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Metadata
DOID DOID:0050675
Name Birk-Barel syndrome
Definition An autosomal dominant disease that is characterized by intellectual disability, hypotonia, hyperactivity and facies, has_material_basis_in heterozygous mutation in the KCNK9 gene on chromosome 8q24.
https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy
Synonyms

Birk-Barel mental retardation dysmorphism syndrome [EXACT]

Xrefs

GARD:10358

MESH:C567357

OMIM:612292

Relationships

is_a autosomal dominant disease

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