autosomal recessive intellectual developmental disorder 73

Term ID

DOID:0081233

Synonyms

Definition

An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with hypotonia and mildly delayed walking, impaired intellectual development with poor or absent speech, and mildly dysmorphic features and that has_material_basis_in homozygous mutation in the NAA20 gene on chromosome 20p11. https://pubmed.ncbi.nlm.nih.gov/34230638/

References

• OMIM:619717

Ontology

Human Disease   ( DOID:0081233 )