Metadata | |
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ID | DOID:0112020 |
Name | non-syndromic X-linked intellectual disability 103 |
Definition | A non-syndromic X-linked intellectual disability characterized by intellectual disability and facial feature anomalies that has_material_basis_in hemizygous mutation in the KLHL15 gene on chromosome Xp22.11. https://pubmed.ncbi.nlm.nih.gov/24817631/, https://pubmed.ncbi.nlm.nih.gov/25644381/ |
Xrefs | |
Synonyms |
MRX103 [EXACT] X-linked mental retardation 103 [EXACT] |
Parent Relationships | |
Subclass Logical Relationships |
has material basis in some X-linked recessive inheritance |