Rafiq syndrome

rare

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

Identifiers: MONDO:0013624 OMIM:614202
Causal genes: MAN1B1
Part of: Autosomal recessive non-syndromic intellectual disability
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

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