WormBase Tree Display for DO_term: DOID:0050675
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| DOID:0050675 | Name | Birk-Barel syndrome | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| 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. | ||||
| Comment | OMIM mapping confirmed by DO. | ||||
| Synonym | Exact | Birk-Barel mental retardation dysmorphism syndrome | |||
| Parent | Is_a | DOID:225 | |||
| DOID:0050736 | |||||
| DB_info | Database | OMIM | disease | 612292 | |
| Attribute_of | Gene_by_orthology | WBGene00006318 | |||
| WBGene00006673 |
