Birk-Barel syndrome
Information
- Disease name
- Birk-Barel syndrome
- Disease ID
- DOID:0050675
- Description
- "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." [url:https\://rarediseases.info.nih.gov/diseases/10050/bietti-crystalline-corneoretinal-dystrophy]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:10358
- Cross Reference ID (Disease Ontology)
- MESH:C567357
- Cross Reference ID (Disease Ontology)
- MIM:612292
- Exact Synonym (Disease Ontology)
- Birk-Barel mental retardation dysmorphism syndrome