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1 OMIM reference -
14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
18 signs/symptoms
Microform holoprosencephaly
Muenke syndrome

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


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Microform holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Muenke syndrome
FGFR3



Microform holoprosencephaly
Muenke syndrome

Synonym(s):
- Microform HPE

Synonym(s):
(no synonyms)

Classification (Orphanet):
(no data available)
Classification (Orphanet):
- Rare bone disease
- 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:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: C537369

Muenke syndrome

Very frequent
- Autosomal dominant inheritance

Frequent
- Brachycephaly / flat occiput
- Carpal bones fusion / synostosis
- Cone epiphyses / epiphysis
- Cranial hypertension
- High vaulted / narrow palate
- Hypertelorism
- Mid-facial hypoplasia / short / small midface
- Plagiocephaly
- Proptosis / exophthalmos
- Ptosis
- Sensorineural deafness / hearing loss
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Tarsal anomaly / fusion / synostosis

Occasional
- Hydrocephaly
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly


Microform holoprosencephaly

(no data available)