Intellectual disability, autosomal recessive 42
Intellectual disability, autosomal recessive 42
Definition
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene.
Also known as autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1, intellectual disability, autosomal recessive 42, intellectual disability, autosomal recessive type 42, mental retardation, autosomal recessive type 42, neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, PGAP1 autosomal recessive non-syndromic intellectual disability — per MONDO