Term Name: | syndromic X-linked intellectual disability Nascimento type |
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Synonyms: | mental retardation, X-linked syndromic, Nascimento-type, X-linked intellectual disability-nail dystrophy-seizures syndrome |
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. |
Ontology: | Human Disease [DOID:0060820] ( DOID:0060820 ) |