autosomal recessive intellectual developmental disorder 66

Term ID

DOID:0081227

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that is characterized by delayed speech development, neuropsychiatric symptoms, and relatively normal life span and that has_material_basis_in homozygous mutation in the C12ORF4 gene on chromosome 12p13. https://pubmed.ncbi.nlm.nih.gov/27311568/

References

• OMIM:618221

Ontology

Human Disease   ( DOID:0081227 )