| 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 | |
| Subsets |
DO_rare_slim |
| Synonyms |
Birk-Barel mental retardation dysmorphism syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |