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Horizontal gaze palsy with progressive scoliosis
1 OMIM reference -
1 associated gene
3 connected diseases
9 signs/symptoms
Disease Type of connection
Apolipoprotein A-I deficiency
Familial renal amyloidosis due to Apolipoprotein AI variant
Primary systemic amyloidosis
Synonym(s):
- HGPPS
- Progressive external ophthalmoplegia and scoliosis
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Diseases of the eye and adnexa -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ROBO3 Q96MS0608630
Very frequent
- Autosomal recessive inheritance
- Kyphosis
- Ophthalmoplegia / ophthalmoparesis / oculomotor palsy
- Scoliosis

Frequent
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Nystagmus
- Short neck

Occasional
- Seizures / epilepsy / absences / spasms / status epilepticus
- Sensorineural deafness / hearing loss