intellectual disability, autosomal recessive 42
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.
MONDO:0019502
autosomal recessive non-syndromic intellectual disability
is_a
MRT42
related
PGAP1 autosomal recessive non-syndromic intellectual disability
exact
autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1
exact
intellectual disability, autosomal recessive 42
exact
intellectual disability, autosomal recessive type 42
exact
mental retardation, autosomal recessive 42
related
mental retardation, autosomal recessive type 42
exact
neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities
exact
SPAC824.02