Intellectual disability, autosomal recessive 54

Definition

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

Also known as autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK, intellectual developmental disorder 54, intellectual disability, autosomal recessive 54, intellectual disability, autosomal recessive type 54, mental retardation, autosomal recessive 54, mental retardation, autosomal recessive type 54, MRT54, TNIK autosomal recessive non-syndromic intellectual disability — per MONDO

Also identified as

• DOID 0081216 per MONDO
• OMIM 617028 per MONDO
• UMLS C4310755 per MONDO