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Metadata
ID DOID:0112050
Name non-syndromic X-linked intellectual disability 63
Definition A non-syndromic X-linked intellectual disability characterized by moderate to severe nonprogressive intellectual disability in males and moderate intellectual disability to normal intelligence in females that has_material_basis_in heterozygous mutation in the ACSL4 gene on chromosome Xq23.
https://pubmed.ncbi.nlm.nih.gov/10854107/, https://pubmed.ncbi.nlm.nih.gov/11889465/
Xrefs

GARD:5613

OMIM:300387

Subsets

DO_rare_slim

Synonyms

ACSL4-related intellectual disability [EXACT]

MRX63 [EXACT]

MRX68 [EXACT]

X-linked mental retardation 63 [EXACT]

X-linked mental retardation 68 [EXACT]

Parent Relationships

is_a X-linked dominant disease

is_a non-syndromic X-linked intellectual disability

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