gaze palsy, familial horizontal, with progressive scoliosis, 2
MONDO:0054602Mondo
Findings
No curated finding names gaze palsy, familial horizontal, with progressive scoliosis, 2 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 · Fetal onset
HPO, annotations 2026-09-02
Features
19 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.
- Abnormality of the anterior commissureHPOHP:0030301
- 3 of 3 reported patients
- Absent hippocampal commissureHPOHP:0033646
- 3 of 3 reported patients
- Agenesis of corpus callosumHPOHP:0001274
- 4 of 4 reported patients
- Global developmental delayHPOHP:0001263
- 4 of 4 reported patients
- Hypoplasia of the ponsHPOHP:0012110
- 3 of 3 reported patients
- Midline brainstem cleftHPOHP:0033645
- 3 of 3 reported patients
- Delayed speech and language developmentHPOHP:0000750
- 3 of 4 reported patients
- Horizontal supranuclear gaze palsyHPOHP:0007817
- 3 of 4 reported patients
- Intellectual disabilityHPOHP:0001249
- 3 of 4 reported patients
- ScoliosisHPOHP:0002650
- 3 of 4 reported patients
- Bimanual synkinesiaHPOHP:0001335
- 2 of 3 reported patients
- Fusion of the left and right thalamiHPOHP:0010664
- 2 of 3 reported patients
Show the remaining 7
- HypotoniaHPOHP:0001252
- 2 of 4 reported patients
- Interhemispheric cystHPOHP:0032327
- 2 of 4 reported patients
- HemiparesisHPOHP:0001269
- 1 of 4 reported patients
- HydrocephalusHPOHP:0000238
- 1 of 4 reported patients
- HyperreflexiaHPOHP:0001347
- 1 of 4 reported patients
- SeizureHPOHP:0001250
- 1 of 4 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.
- DCCHGNC:2701
- Strong · G2P · Autosomal recessive · 2025
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2020