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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
2 OMIM references -
2 associated genes
22 signs/symptoms
Microform holoprosencephaly
Otofaciocervical syndrome

CDON EYA1
DISP1 PAX1
DLL1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Otofaciocervical syndrome
EYA1 PAX1



Microform holoprosencephaly
Otofaciocervical syndrome

Synonym(s):
- Microform HPE

Synonym(s):
- Fara-Chlupackova syndrome
- OFC syndrome

Classification (Orphanet):
(no data available)
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: adult
Type of inheritance: multigenic/multifactorial
Epidemiological data:
(no data available)

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

Otofaciocervical syndrome

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


Microform holoprosencephaly

(no data available)