syndromic X-linked intellectual disability Nascimento type

Term ID

DOID:0060820

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. (2)

References

• ICD10CM:Q87.8
• OMIM:300860
• ORDO:163956

Ontology

Human Disease   ( DOID:0060820 )