ODCs

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1 OMIM reference -
4 associated genes
8 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2

Otofaciocervical syndrome

2 OMIM references -
2 associated genes
22 signs/symptoms

Schizencephaly

Otofaciocervical syndrome

COL4A1	(UniProt - OMIM)		EYA1	(UniProt - OMIM)
EMX2	(UniProt - OMIM)		PAX1	(UniProt - OMIM)
SHH	(UniProt - OMIM)
SIX3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SIX3	(0.55)	EYA1

Citations in the biomedical literature:

Schizencephaly		Otofaciocervical syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Fara-Chlupackova syndrome - OFC syndrome

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease		Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic 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: 2 OMIM references - No MeSH references


COMMON SIGNS	- Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability

Schizencephaly		Otofaciocervical syndrome
	Very frequent - Corpus callosum / septum pellucidum total / partial agenesis - EEG anomalies - Porencephaly - Strabismus / squint Frequent - Hemiplegia / diplegia / hemiparesia / limb palsy - Seizures / epilepsy / absences / spasms / status epilepticus		Very frequent - Abnormal dermatoglyphics - Anteverted nares / nostrils - Autosomal dominant inheritance - Branchial / posterior auricular / preauricular / cheek cysts / fistulae - Broad cheeks / cherub-like / cherubin face - Clavicle absent / abnormal - Conductive deafness / hearing loss - Depressed nasal bridge - High vaulted / narrow palate - Hypereflexia - Long / large ear - Prominent / bat ears - Scapula structural / position anomaly / congenital elevation / Sprengel anomaly - Short stature / dwarfism / nanism - Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia Frequent - Antihelix anomaly - Delayed bone age Occasional - Agenesis / hypoplasia / aplasia of kidneys - External auditory canal atresia / stenosis / agenesis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy