neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language
Findings
No curated finding names neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A syndromic neurodevelopmental disorder in which the cause of the disease is a variation in RNU4-2 gene and is inherited in an autosomal dominant pattern. It is characterized by moderate to severe global developmental delay/intellectual disability, speech anomalies (mostly non-verbal), hypotonia, abnormal brain MRI (reduced white matter volume, hypoplasia of the corpus callosum, ventriculomegaly, and delayed myelination), dysmorphic facial features, short stature, microcephaly, behavioral issues, seizures and feeding difficulties, as well as variable vision, gastrointestinal, endocrine, skeletal, genitourinary, cardiac, and cutaneous anomalies. It has autosomal dominant inheritance.
Definition from the Mondo Disease Ontology (MONDO:0971172), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Fetal onset
HPO, annotations 2026-09-02
Features
209 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.
- Abnormal cerebral white matter morphologyHPOHP:0002500
- 1 of 1 reported patient
- AnxietyHPOHP:0000739
- 2 of 2 reported patients
- Brain atrophyHPOHP:0012444
- 2 of 2 reported patients
- Central apneaHPOHP:0002871
- 1 of 1 reported patient
- Cerebral atrophyHPOHP:0002059
- 1 of 1 reported patient
- Delayed speech and language developmentHPOHP:0000750
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:10193HGNC:10193
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Strong · G2P · Autosomal dominant · 2025
- Strong · ClinGen · Autosomal dominant · 2025
Where it sits
Other names
6 names
Resolves to: neurodevelopmental disorder with hypotonia, brain anomalies, distinctive facies, and absent language
- Also called
- NEDHAFARENUReNU syndromeRNU4-2-related neurodevelopmental disorder-facial dysmorphism-white matter abnormalities-short stature syndromeRNU4-2-related neurodevelopmental syndromeRNU4-2-related ReNU syndrome