Term Name: | Rafiq syndrome |
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Synonyms: | |
Definition: | 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. |
Ontology: | Human Disease [DOID:0081097] ( DOID:0081097 ) |