neurodevelopmental disorder with white matter abnormalities and gait disturbance
MONDO:0976264Mondo
Findings
No curated finding names neurodevelopmental disorder with white matter abnormalities and gait disturbance yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
42 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.
- Appendicular hypotoniaHPOHP:0012389
- 2 of 2 reported patients
- Autistic behaviorHPOHP:0000729
- 5 of 5 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 2 of 2 reported patients
- Coxa valgaHPOHP:0002673
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 7 of 7 reported patients
- EEG abnormalityHPOHP:0002353
- 5 of 5 reported patients
- Gait disturbanceHPOHP:0001288
- 6 of 6 reported patients
- Generalized hypotoniaHPOHP:0001290
- 3 of 3 reported patients
- Global developmental delayHPOHP:0001263
- 9 of 9 reported patients
- HyperactivityHPOHP:0000752
- 5 of 5 reported patients
- Intellectual disabilityHPOHP:0001249
- 8 of 8 reported patients
- IrritabilityHPOHP:0000737
- 3 of 3 reported patients
Show the remaining 30
- Low frustration toleranceHPOHP:0000744
- 3 of 3 reported patients
- Pes planusHPOHP:0001763
- 2 of 2 reported patients
- PolyphagiaHPOHP:0002591
- 1 of 1 reported patient
- MacrocephalyHPOHP:0000256
- 6 of 7 reported patients
- Aggressive behaviorHPOHP:0000718
- 3 of 4 reported patients
- Atrial septal defectHPOHP:0001631
- 2 of 3 reported patients