neurodevelopmental disorder with impaired speech and hyperkinetic movements
MONDO:0032741Mondo
Findings
No curated finding names neurodevelopmental disorder with impaired speech and hyperkinetic movements 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 · Neonatal onset
HPO, annotations 2026-09-02
Features
14 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.
- Delayed speech and language developmentHPOHP:0000750
- 7 of 7 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 7 reported patients
- Intellectual disabilityHPOHP:0001249
- 6 of 7 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 5 of 7 reported patients
- AtaxiaHPOHP:0001251
- 4 of 7 reported patients
- DolichocephalyHPOHP:0000268
- 4 of 7 reported patients
- TremorHPOHP:0001337
- 4 of 7 reported patients
- DystoniaHPOHP:0001332
- 3 of 7 reported patients
- TorticollisHPOHP:0000473
- 3 of 7 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 7 reported patients
- ChoreaHPOHP:0002072
- 1 of 7 reported patients
- Delayed ability to sitHPOHP:0025336
- 1 of 7 reported patients
Show the remaining 2
- Lower limb hyperreflexiaHPOHP:0002395
- 1 of 7 reported patients
- Hyperkinetic movementsHPOHP:0002487
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.
- ZNF142HGNC:12927
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · G2P · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2022