neurodevelopmental disorder with ataxia and brain abnormalities
MONDO:0978300Mondo
Findings
No curated finding names neurodevelopmental disorder with ataxia and brain abnormalities 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 · Infantile onset · Childhood onset
HPO, annotations 2026-09-02
Features
58 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.
- AtaxiaHPOHP:0001251
- 5 of 5 reported patients
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 1 of 1 reported patient
- Caesarean sectionHPOHP:0011410
- 1 of 1 reported patient
- Decreased activity of mitochondrial complex IHPOHP:0011923
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 6 of 6 reported patients
- EncephalopathyHPOHP:0001298
- 1 of 1 reported patient
- FatigueHPOHP:0012378
- 1 of 1 reported patient
- Fetal distressHPOHP:0025116
- 1 of 1 reported patient
- Generalized-onset seizureHPOHP:0002197
- 1 of 1 reported patient
- HypertensionHPOHP:0000822
- 1 of 1 reported patient
- Inability to walkHPOHP:0002540
- 1 of 1 reported patient
- Lower limb spasticityHPOHP:0002061
- 1 of 1 reported patient
Show the remaining 46
- Motor delayHPOHP:0001270
- 1 of 1 reported patient
- NystagmusHPOHP:0000639
- 4 of 4 reported patients
- Optic atrophyHPOHP:0000648
- 3 of 3 reported patients
- Optic disc pallorHPOHP:0000543
- 1 of 1 reported patient
- Reduced eye contactHPOHP:0000817
- 1 of 1 reported patient
- Sensorineural hearing impairmentHPOHP:0000407
- 2 of 2 reported patients