Metadata | |
---|---|
ID | DOID:0080239 |
Name | autosomal recessive intellectual developmental disorder 61 |
Definition | An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous mutation in the RUN and SH3 domain containing 2 gene (RUSC2) on chromosome 9p13. https://www.ncbi.nlm.nih.gov/pubmed/27612186, https://www.omim.org/entry/617773 |
Xrefs | |
Alternateids |
DOID:0080229 |
Synonyms |
Alwadei syndrome [EXACT] autosomal recessive intellectual developmental disorder-61 [EXACT] autosomal recessive mental retardation 61 [EXACT] |
Parent Relationships |
is_a autosomal recessive intellectual developmental disorder |