Metadata | |
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ID | DOID:0112022 |
Name | non-syndromic X-linked intellectual disability 21 |
Definition | A non-syndromic X-linked intellectual disability characterized by a spectrum of cognitive neurologic impairments ranging from moderate mental retardation to high-functioning autism that has_material_basis_in hemizygous mutation in the IL1RAPL1 gene on chromosome Xp21.3-p21.2. https://pubmed.ncbi.nlm.nih.gov/18801879/ |
Xrefs | |
Synonyms |
MRX21 [EXACT] MRX34 [EXACT] X-linked mental retardation 21 [EXACT] X-linked mental retardation 21/34 [EXACT] X-linked mental retardation 34 [EXACT] |
Parent Relationships |