RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
Findings
No curated finding names RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A neurodevelopmental disorder in which the cause of the disease is a variation in RNU5B-1 gene and is characterized by global developmental delay, hypotonia, macrocephaly, failure to thrive, abnormality of the eye, seizures, and joint laxity
Definition from the Mondo Disease Ontology (MONDO:1060179), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset · Infantile onset · Neonatal onset · Childhood onset
HPO, annotations 2026-09-02
Features
148 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.
- 2-3 toe cutaneous syndactylyHPOHP:0005709
- 1 of 1 reported patient
- Arachnoid cystHPOHP:0100702
- 1 of 1 reported patient
- Atrial septal defectHPOHP:0001631
- 2 of 2 reported patients
- AutismHPOHP:0000717
- 2 of 2 reported patients
- Bilateral sensorineural hearing impairmentHPOHP:0008619
- 1 of 1 reported patient
- Bilateral superior vena cavaHPOHP:0033379
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.
- HGNC:10212HGNC:10212
- Strong · ClinGen · Autosomal dominant · 2025
Where it sits
Other names
2 names
Resolves to: RNU5B-1 related neurodevelopmental disorder with seizures and joint laxity
- Also called
- NEDSJLneurodevelopmental disorder with seizures and joint laxity