Metadata | |
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ID | DOID:0081220 |
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 |