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Metadata
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

MIM:300983

Synonyms

MRX104 [EXACT]

X-linked mental retardation 104 [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a non-syndromic X-linked intellectual disability

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