autosomal recessive intellectual developmental disorder 54

Term ID

DOID:0081216

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the TNIK gene on chromosome 3q26. https://pubmed.ncbi.nlm.nih.gov/27106596/

References

• MIM:617028

Ontology

Human Disease   ( DOID:0081216 )