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Metadata
ID DOID:0112021
Name non-syndromic X-linked intellectual disability ARX-related
Definition A non-syndromic X-linked intellectual disability characterized by moderate to profound intellectual disability with variable additional features that has_material_basis_in hemizygous mutation in ARX on chromosome Xp21.3.
https://pubmed.ncbi.nlm.nih.gov/10398246/, https://pubmed.ncbi.nlm.nih.gov/17480217/
Xrefs

GARD:5614

OMIM:300419

Subsets

DO_rare_slim

Synonyms

ARX-related intellectual disability [EXACT]

MRXARX [EXACT]

X-linked mental retardation 29 and others [EXACT]

X-linked mental retardation 29 [EXACT]

X-linked mental retardation 32 [EXACT]

X-linked mental retardation 33 [EXACT]

X-linked mental retardation 38 [EXACT]

X-linked mental retardation 43 [EXACT]

X-linked mental retardation 52 [EXACT]

X-linked mental retardation 54 [EXACT]

X-linked mental retardation 76 [EXACT]

X-linked mental retardation 87 [EXACT]

X-linked mental retardation with or without seizures ARX-related [EXACT]

Parent Relationships

is_a X-linked recessive disease

is_a non-syndromic X-linked intellectual disability

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