autosomal recessive intellectual developmental disorder 46

Term ID

DOID:0081210

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the NDST1 gene on chromosome 5q33. https://pubmed.ncbi.nlm.nih.gov/25125150/

References

• OMIM:616116

Ontology

Human Disease   ( DOID:0081210 )