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1 OMIM reference -
4 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Isolated aniridia

1 OMIM reference -
1 associated gene
8 signs/symptoms

Schizencephaly

Isolated aniridia

COL4A1	(UniProt - OMIM)		PAX6	(UniProt - OMIM)
EMX2	(UniProt - OMIM)
SHH	(UniProt - OMIM)
SIX3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SIX3	(0.75)	PAX6

Citations in the biomedical literature:

Schizencephaly		Isolated aniridia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references

Schizencephaly		Isolated aniridia
	Very frequent - Corpus callosum / septum pellucidum total / partial agenesis - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Porencephaly - Strabismus / squint Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Aniridia / iris hypoplasia - Autosomal dominant inheritance - Macular dystrophy / absence / hypoplasia of the macula - Nystagmus - Visual loss / blindness / amblyopia Frequent - Cataract / lens opacification - Corneal clouding / opacity / vascularisation - Glaucoma