neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked
MONDO:0859085Mondo
Findings
No curated finding names neurodevelopmental disorder with gait disturbance, dysmorphic facies, and behavioral abnormalities, X-linked yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- X-linked dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
24 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.
- Delayed speech and language developmentHPOHP:0000750
- 7 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- HypotoniaHPOHP:0001252
- 6 of 6 reported patients
- Intellectual disabilityHPOHP:0001249
- 7 of 7 reported patients
- Motor stereotypyHPOHP:0000733
- 5 of 5 reported patients
- AstigmatismHPOHP:0000483
- 6 of 7 reported patients
- Gait disturbanceHPOHP:0001288
- 6 of 7 reported patients
- Broad foreheadHPOHP:0000337
- 5 of 7 reported patients
- Autistic behaviorHPOHP:0000729
- 4 of 7 reported patients
- StrabismusHPOHP:0000486
- 4 of 7 reported patients
- Chronic constipationHPOHP:0012450
- 3 of 7 reported patients
- Recurrent ear infectionsHPOHP:0410018
- 3 of 7 reported patients
Show the remaining 12
- SeizureHPOHP:0001250
- 3 of 7 reported patients
- HyperbilirubinemiaHPOHP:0002904
- 2 of 7 reported patients · Neonatal onset
- Recurrent respiratory infectionsHPOHP:0002205
- 2 of 7 reported patients
- Developmental regressionHPOHP:0002376
- 2 of 8 reported patients
- Ankle clonusHPOHP:0011448
- 1 of 7 reported patients
- Gastroesophageal refluxHPOHP:0002020
- 1 of 7 reported patients
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.
- TCEAL1HGNC:11616
- Strong · Labcorp Genetics (formerly Invitae) · X-linked · 2023
- Strong · PanelApp Australia · X-linked · 2025
- Moderate · Ambry Genetics · X-linked · 2022
- Moderate · G2P · X-linked · 2023