Term Name: Rafiq syndrome
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 )

Relationships
is a type of: autosomal recessive intellectual developmental disorder