Birk-Barel syndrome

Term ID

DOID:0050675

Synonyms

• Birk-Barel mental retardation dysmorphism 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

References

• GARD:10358
• MESH:C567357
• OMIM:612292

Ontology

Human Disease   ( DOID:0050675 )