Intellectual disability, autosomal recessive 57
Intellectual disability, autosomal recessive 57
Definition
Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene.
Also known as autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7, intellectual developmental disorder, autosomal recessive 57, intellectual disability, autosomal recessive 57, intellectual disability, autosomal recessive type 57, MBOAT7 autosomal recessive non-syndromic intellectual disability, mental retardation, autosomal recessive 57, mental retardation, autosomal recessive type 57, MRT57 — per MONDO