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Metadata
ID DOID:0112024
Name non-syndromic X-linked intellectual disability 58
Definition A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and no consistent dysmorphic features that has_material_basis_in hemizygous mutation in the TSPAN7 gene on chromosome Xp11.4.
https://pubmed.ncbi.nlm.nih.gov/10449641/, https://pubmed.ncbi.nlm.nih.gov/12070254/
Xrefs

MIM:300210

Synonyms

MRX58 [EXACT]

X-linked mental retardation 58 [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a non-syndromic X-linked intellectual disability

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