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syndromic X-linked intellectual disability Nascimento type (DOID:0060820)
Alliance: disease page
Synonyms: mental retardation, X-linked syndromic, Nascimento-type; X-linked intellectual disability-nail dystrophy-seizures syndrome
Alt IDs: OMIM:300860, ICD10CM:Q87.8, ORDO:163956
Definition: A syndromic X-linked intellectual disability characterized by intellectual disability with dysmorphic features, including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth, myxedematous appearance, hirsutism, abnormal hair whorls, micropenis, and onychodystrophy that has_material_basis_in mutation in the UBE2A gene on chromosome Xq24.

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Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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Send questions and comments to User Support. 		last database update
11/12/2024
MGI 6.24 		The Jackson Laboratory