Intellectual disability, autosomal recessive 50

Definition

Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene.

Also known as autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3, EDC3 autosomal recessive non-syndromic intellectual disability, intellectual developmental disorder, autosomal recessive 50, intellectual disability, autosomal recessive 50, intellectual disability, autosomal recessive type 50, mental retardation, autosomal recessive type 50 — per MONDO

Also identified as

• DOID 0081213 per MONDO
• OMIM 616460 per MONDO
• UMLS C4225319 per MONDO