Synonym(s): - Pseudotoxoplasmosis syndrome
Classification (Orphanet): - Rare eye disease - Rare genetic disease Entire classification		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - See
Epidemiological data: (no data available)		External references: 1 OMIM reference - See No MeSH references
More Info - Orphanet

Gene symbol	UniProt reference	OMIM reference
TUBGCP6	Q96RT7	610053

- Autosomal recessive inheritance
- Microcephaly
- Retinitis pigmentosa / retinal pigmentary changes

- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Anteverted nares / nostrils
- Broad nose / nasal bridge
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Intrauterine growth retardation
- Long / thick / curved lashes / trichomegaly / polytrichia
- Narrow forehead
- Nystagmus
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pointed chin
- Prominent / bat ears
- Scoliosis
- Seizures / epilepsy / absences / spasms / status epilepticus
- Short stature / dwarfism / nanism
- Sloping forehead
- Strabismus / squint
- Visual loss / blindness / amblyopia