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1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
1 OMIM reference -
1 associated gene
7 signs/symptoms
Isolated plagiocephaly
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis

FGFR3 PTF1A
TCF12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TCF12
(0.62)
PTF1A



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
PTF1A



Isolated plagiocephaly
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis

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

Synonym(s):
- Pancreatic and cerebellar agenesis

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

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
(no data available)

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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal recessive

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

Isolated plagiocephaly
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis

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


Very frequent
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Insulin-independent / type 2 diabetes
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Triangular face

Frequent
- Structural anomalies of the pancreas