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Metadata
ID DOID:0112038
Name non-syndromic X-linked intellectual disability 1
Definition A non-syndromic X-linked intellectual disability characterized by moderate to severe intellectual disability in males and varying levels of intellectual disability in females that has_material_basis_in hemizygous or heterozygous mutation in the IQSEC2 gene on chromosome Xp11.22.
https://pubmed.ncbi.nlm.nih.gov/20473311/, https://pubmed.ncbi.nlm.nih.gov/3177466/
Xrefs

GARD:13221

OMIM:309530

Subsets

DO_rare_slim

Synonyms

MRX1 [EXACT]

MRX18 [EXACT]

MRX78 [EXACT]

X-linked mental retardation 1 [EXACT]

X-linked mental retardation 1/78 [EXACT]

X-linked mental retardation 18 [EXACT]

X-linked mental retardation 78 [EXACT]

Parent Relationships

is_a X-linked dominant disease

is_a non-syndromic X-linked intellectual disability

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