Rafiq syndrome

Definition

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.

Also known as autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1, CDG2U, intellectual disability, autosomal recessive 15, MAN1B1 autosomal recessive non-syndromic intellectual disability, mental retardation, autosomal recessive 15, mental retardation, autosomal recessive type 15, RAFQS — per MONDO

Also identified as

• DOID 0081097 per MONDO
• OMIM 614202 per MONDO
• UMLS C3280127 per MONDO