Rafiq Syndrome
Disease ID: disease_node_16373
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| Dbxref | MIM:614202 |
|---|---|
| Subclassof | DOID_0060308 |
| Data Source | DOID |
| Synonyms | MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 |
| Doid Label | Rafiq syndrome |
| Doid Description | An autosomal recessive intellectual developmental disorder that is characterized by variably impaired intellectual and motor development, a characteristic facial dysmorphism, truncal obesity, and hypotonia and that has_material_basis_in homozygous mutation in the MAN1B1 gene on chromosome 9q34. |
| Disease Node Id | disease_node_16373 |
| Doid Id | DOID_0081097 |
| Label | Rafiq Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Intellectual Developmental Disorder(ID:disease_node_16368) (Disease)