PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
Findings
No curated finding names PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare neurologic disease characterized by neonatal hypotonia, global developmental delay, feeding difficulties, and often seizures or seizure-like episodes. Other frequently observed signs and symptoms include variable dysmorphic features, myopathic facies, respiratory problems, and visual abnormalities, such as strabismus or esotropia. Brain imaging may show delayed myelination and other white matter abnormalities.
Definition from the Mondo Disease Ontology (MONDO:1060108), read 2026-09-29. CC BY 4.0.
Features
86 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
- Very frequent (80% to 99% of cases)
- Broad-based gaitHPOHP:0002136
- Very frequent (80% to 99% of cases)
- Delayed fine motor developmentHPOHP:0010862
- Very frequent (80% to 99% of cases)
- Floppy infantHPOHP:0008947
- Very frequent (80% to 99% of cases)
- Intellectual disabilityHPOHP:0001249
- Very frequent (80% to 99% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Very frequent (80% to 99% of cases)
Show the remaining 74
- ConstipationHPOHP:0002019
- Frequent (30% to 79% of cases)
- Decreased circulating vitamin D concentrationHPOHP:0100512
- Frequent (30% to 79% of cases)
- DroolingHPOHP:0002307
- Frequent (30% to 79% of cases)
- DyskinesiaHPOHP:0100660
- Frequent (30% to 79% of cases)
- DystoniaHPOHP:0001332
- Frequent (30% to 79% of cases)
- Exaggerated startle responseHPOHP:0002267
- Frequent (30% to 79% of cases)
Where it sits
Other names
1 name
Resolves to: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
- Also called
- PURA-related neurodevelopmental disorders