Rafiq syndrome

Term ID

DOID:0081097

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. https://pubmed.ncbi.nlm.nih.gov/29908352/

References

• OMIM:614202

Ontology

Human Disease   ( DOID:0081097 )