neurodevelopmental disorder with hyperkinetic movements, seizures, and structural brain abnormalities
MONDO:0958240Mondo
Findings
No curated finding names neurodevelopmental disorder with hyperkinetic movements, seizures, and structural 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
- Infantile onset
HPO, annotations 2026-09-02
Features
38 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.
- Absent speechHPOHP:0001344
- 4 of 4 reported patients
- AkathisiaHPOHP:0031943
- 4 of 4 reported patients
- Arm dystoniaHPOHP:0031960
- 3 of 3 reported patients
- Axial hypotoniaHPOHP:0008936
- 4 of 4 reported patients
- Brisk reflexesHPOHP:0001348
- 4 of 4 reported patients
- Enlarged cisterna magnaHPOHP:0002280
- 3 of 3 reported patients
- Failure to thriveHPOHP:0001508
- 4 of 4 reported patients
- Generalized-onset seizureHPOHP:0002197
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Heat intoleranceHPOHP:0002046
- 2 of 2 reported patients
- Hypoplasia of the brainstemHPOHP:0002365
- 3 of 3 reported patients
- Hypoplasia of the corpus callosumHPOHP:0002079
- 3 of 3 reported patients
Show the remaining 26
- Hypoplasia of the ponsHPOHP:0012110
- 3 of 3 reported patients
- Inability to walkHPOHP:0002540
- 4 of 4 reported patients
- IrritabilityHPOHP:0000737
- 4 of 4 reported patients
- Limb hypertoniaHPOHP:0002509
- 2 of 2 reported patients
- Motor delayHPOHP:0001270
- 4 of 4 reported patients
- Orofacial dyskinesiaHPOHP:0002310
- 4 of 4 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.
- PI4K2AHGNC:30031
- Strong · PanelApp Australia · Autosomal recessive · 2025