WormBase Tree Display for DO_term: DOID:0060820
expand all nodes | collapse all nodes | view schema
DOID:0060820 | Name | syndromic X-linked intellectual disability Nascimento type | |||
---|---|---|---|---|---|
Status | Valid | ||||
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. | ||||
Synonym | Exact | X-linked intellectual disability-nail dystrophy-seizures syndrome | |||
mental retardation, X-linked syndromic, Nascimento-type | |||||
Parent | Is_a | DOID:0060309 | |||
DB_info | Database | OMIM | disease | 300860 | |
Attribute_of | Gene_by_orthology | WBGene00006701 |