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syndromic X-linked intellectual disability Nascimento type (DOID:0060820)
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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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last database update
10/10/2017
MGI 6.10
The Jackson Laboratory