neurodevelopmental disorder with early-onset parkinsonism and behavioral abnormalities
MONDO:0958323Mondo
Findings
No curated finding names neurodevelopmental disorder with early-onset parkinsonism and behavioral 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
- Childhood onset
HPO, annotations 2026-09-02
Features
30 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.
- BradykinesiaHPOHP:0002067
- 3 of 3 reported patients
- Cogwheel rigidityHPOHP:0002396
- 3 of 3 reported patients
- Distal lower limb amyotrophyHPOHP:0008944
- 2 of 2 reported patients
- DysarthriaHPOHP:0001260
- 4 of 4 reported patients
- Foot dorsiflexor weaknessHPOHP:0009027
- 1 of 1 reported patient
- Freezing of gaitHPOHP:0031825
- 1 of 1 reported patient
- Froment signHPOHP:0032121
- 1 of 1 reported patient
- Gait disturbanceHPOHP:0001288
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 4 of 4 reported patients
- Mask-like faciesHPOHP:0000298
- 2 of 2 reported patients
- ParkinsonismHPOHP:0001300
- 6 of 6 reported patients
Show the remaining 18
- Postural instabilityHPOHP:0002172
- 4 of 4 reported patients
- RestlessnessHPOHP:0000711
- 2 of 2 reported patients
- Sensory axonal neuropathyHPOHP:0003390
- 4 of 4 reported patients
- Short attention spanHPOHP:0000736
- 1 of 1 reported patient
- Shuffling gaitHPOHP:0002362
- 1 of 1 reported patient
- SpasticityHPOHP:0001257
- 1 of 1 reported patient
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.
- PTRHD1HGNC:33782
- Strong · PanelApp Australia · Autosomal recessive · 2025