neurodevelopmental disorder with hyperkinetic movements and dyskinesia
MONDO:0859211Mondo
Findings
No curated finding names neurodevelopmental disorder with hyperkinetic movements and dyskinesia 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 · Death in childhood
HPO, annotations 2026-09-02
Features
20 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.
- AnxietyHPOHP:0000739
- 3 of 3 reported patients
- Axial hypotoniaHPOHP:0008936
- 5 of 5 reported patients
- Compulsive behaviorsHPOHP:0000722
- 3 of 3 reported patients
- Delayed ability to roll overHPOHP:0032989
- 2 of 2 reported patients
- Delayed ability to sitHPOHP:0025336
- 3 of 3 reported patients
- Delayed ability to walkHPOHP:0031936
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- DystoniaHPOHP:0001332
- 5 of 5 reported patients
- Global developmental delayHPOHP:0001263
- 5 of 5 reported patients
- MyoclonusHPOHP:0001336
- 3 of 3 reported patients
- Poor head controlHPOHP:0002421
- 2 of 2 reported patients
- Thin corpus callosumHPOHP:0033725
- 3 of 3 reported patients
Show the remaining 8
- TremorHPOHP:0001337
- 3 of 3 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 4 of 5 reported patients
- AgitationHPOHP:0000713
- 1 of 2 reported patients
- Failure to thriveHPOHP:0001508
- 1 of 2 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 1 of 2 reported patients
- Reduced eye contactHPOHP:0000817
- 1 of 2 reported patients
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.
- ADCY5HGNC:236
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022