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1 OMIM reference -
4 associated genes
8 signs/symptoms

COMMON GENES: 1

Familial vascular leukoencephalopathy

1 OMIM reference -
1 associated gene
No signs/symptoms info

Schizencephaly

Familial vascular leukoencephalopathy

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


COMMON GENES	COL4A1

Citations in the biomedical literature:

Schizencephaly		Familial vascular leukoencephalopathy
	Synonym(s): (no synonyms)		Synonym(s): - Brain small vessel disease with hemorrhage - Retinal arteriolar tortuosity - infantile hemiparesis - autosomal dominant leukoencephalopathy

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

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the circulatory system -

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C531642

Schizencephaly
	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
Familial vascular leukoencephalopathy
(no data available)