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Schizencephaly
1 OMIM reference -
4 associated genes
8 signs/symptoms
PROTEIN INTERACTIONS: 1
Ménière disease
1 OMIM reference -
1 associated gene
No signs/symptoms info
Schizencephaly
Ménière disease

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

INTERACTOME
ASSOCIATIONS
(click on a score value to see the evidence)
COL4A1
(0.72)
COCH


Citations in the biomedical literature:


Schizencephaly
COL4A1 EMX2 SHH SIX3
Ménière disease
COCH



Schizencephaly
Ménière disease

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (Orphanet):
- Rare otorhinolaryngologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Diseases of the ear and mastoid process -
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: 1-5 / 10 000
Average age onset: variable
Average age of death: normal
Type of inheritance: multigenic/multifactorial
External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D008575
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



Ménière disease

(no data available)