Rafiq syndrome (DOID:0081097)
Alliance: disease page
Synonyms: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15
Alt IDs: OMIM:614202
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.