neurodevelopmental disorder with parkinsonism or other movement abnormalities
MONDO:0980990Mondo
Findings
No curated finding names neurodevelopmental disorder with parkinsonism or other movement 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
- Infantile onset · Middle age onset · Juvenile onset · Young adult onset
HPO, annotations 2026-09-02
Features
76 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.
- Abnormality of visual evoked potentialsHPOHP:0000649
- 2 of 2 reported patients
- BradykinesiaHPOHP:0002067
- 7 of 7 reported patients
- Decreased fetal movementHPOHP:0001558
- 4 of 4 reported patients
- Elbow contractureHPOHP:0034391
- 2 of 2 reported patients
- Elevated circulating creatine kinase activityHPOHP:0003236
- 6 of 6 reported patients
- Elevated circulating hepatic transaminase concentrationHPOHP:0002910
- 3 of 3 reported patients
- EncephalopathyHPOHP:0001298
- 1 of 1 reported patient
- Epileptic spasmHPOHP:0011097
- 4 of 4 reported patients
- Focal-onset seizureHPOHP:0007359
- 2 of 2 reported patients
- Gastrostomy tube feeding in infancyHPOHP:0011471
- 15 of 15 reported patients
- Generalized-onset seizureHPOHP:0002197
- 1 of 1 reported patient
- HypotoniaHPOHP:0001252
- 15 of 15 reported patients
Show the remaining 64
- HypsarrhythmiaHPOHP:0002521
- 1 of 1 reported patient
- Interictal EEG abnormalityHPOHP:0025373
- 2 of 2 reported patients
- Limb hypertoniaHPOHP:0002509
- 1 of 1 reported patient
- Lower limb hypertoniaHPOHP:0006895
- 2 of 2 reported patients
- Lower limb spasticityHPOHP:0002061
- 2 of 2 reported patients
- Optic atrophyHPOHP:0000648
- 2 of 2 reported patients