syndromic X-linked intellectual disability Nascimento type
Findings
No curated finding names syndromic X-linked intellectual disability Nascimento type yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
X-linked intellectual disability, Nascimento type is a rare X-linked intellectual disability syndrome characterized by intellectual disability (with severe speech impairment), a myxedematous appearance, dysmorphic facial features (including large head, synophrys, prominent supraorbital ridges, almond-shaped and deep-set eyes, large ears, wide mouth with everted lower lip and downturned lip corners), low posterior hairline, short, broad neck, marked general hirsutism and abnormal hair whorls, skin changes (e.g. dry skin or hypopigmented spots), widely spaced nipples, obesity, micropenis, onychodystrophy and seizures.
Definition from the Mondo Disease Ontology (MONDO:0010461), read 2026-09-29. CC BY 4.0.
- Inheritance
- X-linked recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
81 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Almond-shaped palpebral fissureHPOHP:0007874
- 5 of 5 reported patients
- Broad halluxHPOHP:0010055
- 5 of 5 reported patients
- Broad neckHPOHP:0000475
- 3 of 3 reported patients
- Frequent (30% to 79% of cases)
- Deeply set eyeHPOHP:0000490
- 5 of 5 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- Downturned corners of mouth
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- UBE2AHGNC:12472
- Definitive · ClinGen · X-linked · 2018
- Definitive · G2P · X-linked · 2025
- Strong · Ambry Genetics · X-linked · 2024
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2022
- Strong · PanelApp Australia · X-linked · 2025
- Supportive · Orphanet · X-linked · 2021
Where it sits
Other names
3 names
Resolves to: syndromic X-linked intellectual disability Nascimento type
- Also called
- intellectual developmental disorder, X-linked syndromic, Nascimento type, X-linked recessiveintellectual disability, X-linked syndromic, Nascimento-typeX-linked intellectual disability-nail dystrophy-seizures syndrome