PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Findings
No curated finding names PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare, genetic neurological disease in which the cause of the disease is a point mutation in the PURA gene. It is typically characterized by neonatal hypotonia, respiratory and feeding difficulties, global development delay (often with nonverbal and frequently non-ambulatory progression) and myopathic facies. Other frequently present features include seizures (or seizure-like episodes), visual impairment and encephalopathy.
Definition from the Mondo Disease Ontology (MONDO:0014512), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
51 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
- 8 of 8 reported patients
- Feeding difficultiesHPOHP:0011968
- 11 of 11 reported patients
- Global developmental delayHPOHP:0001263
- 11 of 11 reported patients
- Very frequent (80% to 99% of cases)
- HypotoniaHPOHP:0001252
- 11 of 11 reported patients · Neonatal onset
- Respiratory insufficiencyHPOHP:0002093
- 10 of 10 reported patients
- Seizure
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.
- PURAHGNC:9701
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
6 names
Resolves to: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
- Also called
- autosomal dominant intellectual disability 31intellectual disability, autosomal dominant type 31mental retardation, autosomal dominant type 31MRD31neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficultiesPURA syndrome