Intellectual disability, autosomal recessive 46

Definition

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene.

Also known as autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1, intellectual disability, autosomal recessive 46, intellectual disability, autosomal recessive type 46, mental retardation, autosomal recessive type 46, NDST1 autosomal recessive non-syndromic intellectual disability — per MONDO

Also identified as

• DOID 0081210 per MONDO
• OMIM 616116 per MONDO
• UMLS C4015283 per MONDO