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Metadata
ID DOID:0050675
Name Birk-Barel syndrome
Definition 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.
https://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy
Xrefs

GARD:10358

MESH:C567357

OMIM:612292

Subsets

DO_rare_slim

Synonyms

Birk-Barel mental retardation dysmorphism syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal dominant disease

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