Term Name: | non-syndromic X-linked intellectual disability ARX-related |
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Synonyms: | ARX-related intellectual disability, MRXARX, X-linked mental retardation 29, X-linked mental retardation 29 and others, X-linked mental retardation 32, X-linked mental retardation 33, X-linked mental retardation 38, X-linked mental retardation 43, X-linked mental retardation 52, X-linked mental retardation 54, X-linked mental retardation 76, X-linked mental retardation 87, X-linked mental retardation with or without seizures 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. |
Ontology: | Human Disease [DOID:0112021] ( DOID:0112021 ) |