Visualize Submit Comment

Metadata
ID	DOID:0081097
Name	Rafiq syndrome
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. https://pubmed.ncbi.nlm.nih.gov/29908352/
Xrefs	MIM:614202
Synonyms	MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15 [EXACT]
Parent Relationships	is_a autosomal recessive intellectual developmental disorder