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1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 2
14 associated genes
No signs/symptoms info
Isolated plagiocephaly
Midline interhemispheric variant of holoprosencephaly

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


INTERACTOME
ASSOCIATIONS

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



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Midline interhemispheric variant of holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2



Isolated plagiocephaly
Midline interhemispheric variant of holoprosencephaly

Synonym(s):
- Non-syndromic unicoronal synostosis
- Synostotic plagiocephaly

Synonym(s):
- MIH
- MIH type HPE
- MIHF
- MIHV
- Middle interhemispheric fusion variant
- Middle interhemispheric variant of holoprosencephaly
- Syntelencephaly

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: multigenic/multifactorial

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

Isolated plagiocephaly

Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Plagiocephaly

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Strabismus / squint

Occasional
- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface


Midline interhemispheric variant of holoprosencephaly

(no data available)