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Metadata
ID DOID:0112040
Name non-syndromic X-linked intellectual disability 100
Definition A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability that has_material_basis_in hemizygous mutation in the KIF4A gene on chromosome Xq13.1.
https://pubmed.ncbi.nlm.nih.gov/24812067/
Xrefs

MIM:300923

Synonyms

MRX100 [EXACT]

X-linked mental retardation 100 [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a non-syndromic X-linked intellectual disability

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