neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter
MONDO:0980947Mondo
Findings
No curated finding names neurodevelopmental disorder with spasticity, thin corpus callosum, and decreased brain white matter 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
- Congenital onset · Juvenile onset · Fetal onset · Childhood onset
HPO, annotations 2026-09-02
Features
40 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.
- Distal muscle weaknessHPOHP:0002460
- 1 of 1 reported patient
- DystoniaHPOHP:0001332
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 1 of 1 reported patient
- Hypoplasia of the corpus callosumHPOHP:0002079
- 1 of 1 reported patient
- Mental deteriorationHPOHP:0001268
- 1 of 1 reported patient
- Mitral valve prolapseHPOHP:0001634
- 1 of 1 reported patient
- MyoclonusHPOHP:0001336
- 1 of 1 reported patient
- Nonimmune hydrops fetalisHPOHP:0001790
- 1 of 1 reported patient
- Oculomotor apraxiaHPOHP:0000657
- 1 of 1 reported patient
- Peripheral axonal neuropathyHPOHP:0003477
- 1 of 1 reported patient
- ScoliosisHPOHP:0002650
- 4 of 4 reported patients
- StrabismusHPOHP:0000486
- 4 of 4 reported patients
Show the remaining 28
- TremorHPOHP:0001337
- 4 of 4 reported patients
- Moderate intellectual disabilityHPOHP:0002342
- 9 of 11 reported patients
- Abnormal facial shapeHPOHP:0001999
- 10 of 13 reported patients
- HyperreflexiaHPOHP:0001347
- 6 of 9 reported patients
- Reduced cerebral white matter volumeHPOHP:0034295
- 4 of 6 reported patients
- Thin corpus callosumHPOHP:0033725
- 3 of 5 reported patients