Term Name: syndromic X-linked intellectual disability Nascimento type
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 )

Relationships
is a type of: syndromic X-linked intellectual disability