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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
2 OMIM references -
3 associated genes
12 signs/symptoms
Microform holoprosencephaly
Isolated brachycephaly

CDON FGFR3
DISP1 TCF12
DLL1 TWIST1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF8
FOXH1
(0.73)
(0.63)
FGFR3
TCF12



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Isolated brachycephaly
FGFR3 TCF12 TWIST1



Microform holoprosencephaly
Isolated brachycephaly

Synonym(s):
- Microform HPE

Synonym(s):
- Non-syndromic bicornal synostosis

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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

Isolated brachycephaly

Very frequent
- Brachycephaly / flat occiput
- Broad forehead

Frequent
- Cranial hypertension
- Flat supraorbital ridge
- Hearing loss / hypoacusia / deafness
- Proptosis / exophthalmos

Occasional
- Autosomal dominant inheritance
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metacarpal anomalies / Archibald's sign
- Mid-facial hypoplasia / short / small midface
- Short hand / brachydactyly


Microform holoprosencephaly

(no data available)