| Metadata | |
|---|---|
| ID | DOID:0081220 |
| PURL | http://purl.obolibrary.org/obo/DOID_0081220 Copy |
| Name | autosomal recessive intellectual developmental disorder 58 |
| Definition | An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the ELP2 gene on chromosome 18q12. https://pubmed.ncbi.nlm.nih.gov/33976153/ |
| Xrefs | |
| Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |