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1 OMIM reference -
4 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
No signs/symptoms info
Schizencephaly
Microcystic corneal dystrophy

COL4A1 TGFBI
EMX2
SHH
SIX3


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
COL4A1
(0.52)
TGFBI



Citations in the biomedical literature:


Schizencephaly
COL4A1 EMX2 SHH SIX3
Microcystic corneal dystrophy
TGFBI



Schizencephaly
Microcystic corneal dystrophy

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

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

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:
(no data available)

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

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



Microcystic corneal dystrophy

(no data available)