Rafiq syndrome
CDG2U
exact
MAN1B1 autosomal recessive non-syndromic intellectual disability
exact
MRT15
related
RAFQS
exact
autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1
exact
intellectual disability, autosomal recessive 15
exact
mental retardation, autosomal recessive 15
exact
mental retardation, autosomal recessive type 15
exact
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene.
MONDO:0019502
autosomal recessive non-syndromic intellectual disability
is_a
SPAC2E1P5.01c