Metadata | |
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ID | DOID:0112018 |
Name | non-syndromic X-linked intellectual disability 104 |
Definition | A non-syndromic X-linked intellectual disability characterized by global developmental delay, mild to severe intellectual disability with variable seizures, poor or absent speech, and behavioral problems in males that has_material_basis_in hemizygous mutation in the FRMPD4 gene on chromosome Xp22.2. https://pubmed.ncbi.nlm.nih.gov/25644381/ |
Xrefs | |
Synonyms |
MRX104 [EXACT] X-linked mental retardation 104 [EXACT] |
Parent Relationships |