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3 OMIM references -
3 associated genes
5 signs/symptoms
PROTEIN INTERACTIONS: 1
2 associated genes
No signs/symptoms info
Isolated scaphocephaly
Anaplastic ependymoma

ALX4 C11ORF95
ERF RELA
TWIST1


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TWIST1
(0.86)
RELA



Citations in the biomedical literature:


Isolated scaphocephaly
ALX4 ERF TWIST1
Anaplastic ependymoma
C11ORF95 RELA



Isolated scaphocephaly
Anaplastic ependymoma

Synonym(s):
- Isolated dolichocephaly
- Non-syndromic sagittal synostosis

Synonym(s):
- High-grade ependymoma

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare neurologic disease
- Rare oncologic 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:
(no data available)

External references:
3 OMIM references -
No MeSH references
External references:
No OMIM references
No MeSH references

Isolated scaphocephaly

Very frequent
- Dolichocephaly / scaphocephaly

Occasional
- Autosomal dominant inheritance
- Cranial hypertension
- Frontal bossing / prominent forehead
- Prominent occiput / occipital bossing


Anaplastic ependymoma

(no data available)