ODCs

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1 OMIM reference -
4 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

1 OMIM reference -
1 associated gene
10 signs/symptoms

Schizencephaly

Aniridia - cerebellar ataxia - intellectual deficit


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

Citations in the biomedical literature:

Schizencephaly		Aniridia - cerebellar ataxia - intellectual deficit
	Synonym(s): (no synonyms)		Synonym(s): - Gillespie syndrome

	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 - Rare neurologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): (no data available)

	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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: no data available Type of inheritance: autosomal recessive

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


COMMON SIGNS	- Intellectual deficit / mental / psychomotor retardation / learning disability

Schizencephaly		Aniridia - cerebellar ataxia - intellectual deficit
	Very frequent - Corpus callosum / septum pellucidum total / partial agenesis - EEG anomalies - Hypertonia / spasticity / rigidity / stiffness - Porencephaly - Strabismus / squint Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Aniridia / iris hypoplasia - Ataxia / incoordination / trouble of the equilibrium - Autosomal recessive inheritance - Expressionless face / amimia Frequent - Hypotonia - Movement disorder - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Occasional - Anomalies of ear and hearing - Pulmonary artery stenosis / absence / hypoplasia of the pulmonary branches