neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus
MONDO:0859212Mondo
Findings
No curated finding names neurodevelopmental disorder, nonprogressive, with spasticity and transient opisthotonus 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
24 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.
- ChoreoathetosisHPOHP:0001266
- 11 of 11 reported patients
- CNS demyelinationHPOHP:0007305
- 1 of 1 reported patient
- Distal upper limb amyotrophyHPOHP:0007149
- 1 of 1 reported patient
- Distal upper limb muscle weaknessHPOHP:0008959
- 1 of 1 reported patient
- DysarthriaHPOHP:0001260
- 1 of 1 reported patient
- Generalized dystoniaHPOHP:0007325
- 1 of 1 reported patient
- HyperreflexiaHPOHP:0001347
- 1 of 1 reported patient
- Inability to walkHPOHP:0002540
- 1 of 1 reported patient
- Motor delayHPOHP:0001270
- 13 of 13 reported patients
- Slow saccadic eye movementsHPOHP:0000514
- 1 of 1 reported patient
- Spastic tetraparesisHPOHP:0001285
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
- 12 of 13 reported patients
Show the remaining 12
- SpasticityHPOHP:0001257
- 11 of 13 reported patients
- Lower limb hyperreflexiaHPOHP:0002395
- 10 of 12 reported patients
- Axial hypotoniaHPOHP:0008936
- 8 of 12 reported patients
- Global developmental delayHPOHP:0001263
- 7 of 11 reported patients
- Upper limb hyperreflexiaHPOHP:0007350
- 7 of 12 reported patients
- ApraxiaHPOHP:0002186
- 7 of 13 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.
- TNRHGNC:11953
- Definitive · ClinGen · Autosomal recessive · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025