gaze palsy, familial horizontal, with progressive scoliosis 1
MONDO:0020790Mondo
Findings
No curated finding names gaze palsy, familial horizontal, with progressive scoliosis 1 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
- Congenital onset · Infantile onset
HPO, annotations 2026-09-02
Features
13 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 sitHPOHP:0025336
- 2 of 2 reported patients
- Global developmental delayHPOHP:0001263
- 1 of 1 reported patient
- Hypoplasia of the ponsHPOHP:0012110
- 2 of 2 reported patients
- NystagmusHPOHP:0000639
- 2 of 2 reported patients
- Thoracolumbar scoliosisHPOHP:0002944
- 2 of 2 reported patients
- TorticollisHPOHP:0000473
- 2 of 2 reported patients
- Axial hypotoniaHPOHP:0008936
- 1 of 2 reported patients
- EsotropiaHPOHP:0000565
- 1 of 2 reported patients
- Generalized hypotoniaHPOHP:0001290
- 1 of 2 reported patients
- Hyperopic astigmatismHPOHP:0000484
- 1 of 2 reported patients
- Impaired ocular abductionHPOHP:0000634
- 1 of 2 reported patients
- MacrocephalyHPOHP:0000256
- 1 of 2 reported patients
Show the remaining 1
- PlagiocephalyHPOHP:0001357
- 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.
- ROBO3HGNC:13433
- Definitive · ClinGen · Autosomal recessive · 2022
- Definitive · G2P · Autosomal recessive · 2015
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Strong · PanelApp Australia · Autosomal recessive · 2025
Where it sits
Other names
3 names
Resolves to: gaze palsy, familial horizontal, with progressive scoliosis 1
- Also called
- gaze palsy, familial horizontal, with progressive scoliosis, 1HGPPSHGPPS1