ODCs

Cytoscape Web

Click node...

1 OMIM reference -
4 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1

Commissural facial cleft

1 OMIM reference -
2 associated genes
No signs/symptoms info

Schizencephaly

Commissural facial cleft

COL4A1	(UniProt - OMIM)		PTCH2	(UniProt - OMIM)
EMX2	(UniProt - OMIM)		SPECC1L	(UniProt - OMIM)
SHH	(UniProt - OMIM)
SIX3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SHH	(0.52)	PTCH2

Citations in the biomedical literature:

Schizencephaly		Commissural facial cleft
	Synonym(s): (no synonyms)		Synonym(s): - Macrostomia

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical 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: (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
Commissural facial cleft
(no data available)