neurodevelopmental disorder with seizures, hypotonia, and variable spasticity
MONDO:0980968Mondo
Findings
No curated finding names neurodevelopmental disorder with seizures, hypotonia, and variable spasticity 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
36 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.
- Arm dystoniaHPOHP:0031960
- 1 of 1 reported patient
- Axial hypotoniaHPOHP:0008936
- 9 of 9 reported patients
- Bilateral tonic-clonic seizureHPOHP:0002069
- 1 of 1 reported patient
- Bilateral tonic-clonic seizure with generalized onsetHPOHP:0025190
- 5 of 5 reported patients
- ClonusHPOHP:0002169
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 5 of 5 reported patients
- Febrile seizure (within the age range of 3 months to 6 years)HPOHP:0002373
- 3 of 3 reported patients
- Focal-onset seizureHPOHP:0007359
- 1 of 1 reported patient
- Lower limb spasticityHPOHP:0002061
- 5 of 5 reported patients
- SeizureHPOHP:0001250
- 2 of 2 reported patients
- Severe global developmental delayHPOHP:0011344
- 10 of 10 reported patients
- Severe intellectual disabilityHPOHP:0010864
- 10 of 10 reported patients
Show the remaining 24
- TorticollisHPOHP:0000473
- 1 of 1 reported patient
- Upper limb spasticityHPOHP:0006986
- 1 of 1 reported patient
- Thin corpus callosumHPOHP:0033725
- 6 of 7 reported patients
- Large earlobeHPOHP:0009748
- 8 of 10 reported patients
- Limb hypertoniaHPOHP:0002509
- 8 of 10 reported patients
- HyperreflexiaHPOHP:0001347
- 7 of 9 reported patients