Brunet-Wagner neurodevelopmental syndrome
MONDO:0859217Mondo
Findings
No curated finding names Brunet-Wagner neurodevelopmental syndrome 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
- Neonatal onset
HPO, annotations 2026-09-02
Features
23 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.
- Delayed ability to crawlHPOHP:0033128
- 2 of 2 reported patients
- Delayed ability to sitHPOHP:0025336
- 2 of 2 reported patients
- Delayed ability to walkHPOHP:0031936
- 2 of 2 reported patients
- Increased skull ossificationHPOHP:0004330
- 2 of 2 reported patients
- Low anterior hairlineHPOHP:0000294
- 2 of 2 reported patients
- Motor stereotypyHPOHP:0000733
- 2 of 2 reported patients
- Neonatal hypotoniaHPOHP:0001319
- 2 of 2 reported patients
- Periorbital fullnessHPOHP:0000629
- 2 of 2 reported patients
- Round faceHPOHP:0000311
- 2 of 2 reported patients
- Severe global developmental delayHPOHP:0011344
- 2 of 2 reported patients
- Thick vermilion borderHPOHP:0012471
- 2 of 2 reported patients
- Thin eyebrowHPOHP:0045074
- 2 of 2 reported patients
Show the remaining 11
- Wide nasal bridgeHPOHP:0000431
- 2 of 2 reported patients
- Cerebellar atrophyHPOHP:0001272
- 1 of 2 reported patients
- Cerebral atrophyHPOHP:0002059
- 1 of 2 reported patients
- Gaze-evoked horizontal nystagmusHPOHP:0007979
- 1 of 2 reported patients
- Horizontal nystagmusHPOHP:0000666
- 1 of 2 reported patients
- HypertelorismHPOHP:0000316
- 1 of 2 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.
- RBL2HGNC:9894
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2022
- Strong · PanelApp Australia · Autosomal recessive · 2025