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WormBase Tree Display for DO_term: DOID:0060820

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Name Class

DOID:0060820Namesyndromic X-linked intellectual disability Nascimento type
StatusValid
DefinitionA 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.
SynonymExactX-linked intellectual disability-nail dystrophy-seizures syndrome
mental retardation, X-linked syndromic, Nascimento-type
ParentIs_aDOID:0060309
DB_infoDatabaseOMIMdisease300860
Attribute_ofGene_by_orthologyWBGene00006701