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1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
1 OMIM reference -
1 associated gene
19 signs/symptoms
Isolated plagiocephaly
Anophthalmia/microphthalmia - esophageal atresia

FGFR3 SOX2
TCF12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
TCF12
(0.63)
SOX2



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Anophthalmia/microphthalmia - esophageal atresia
SOX2



Isolated plagiocephaly
Anophthalmia/microphthalmia - esophageal atresia

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

Synonym(s):
- MCOPS3
- Syndromic microphthalmia type 3

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Rare abdominal surgical disease
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- 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: 1-5 / 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: no data available
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability


Isolated plagiocephaly
Anophthalmia/microphthalmia - esophageal atresia

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
- Hearing loss / hypoacusia / deafness
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface


Very frequent
- Anophthalmos / anophthalmia / microphthalmos / microphthalmia
- Tracheo-esophageal fistula / esophageal atresia / stenosis

Frequent
- Abnormal vertebral size / shape
- Corpus callosum / septum pellucidum total / partial agenesis
- External ear anomalies
- Undescended / ectopic testes / cryptorchidia / unfixed testes
- Visual loss / blindness / amblyopia

Occasional
- Coloboma of iris
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Holoprosencephaly / arhinencephaly / unique lateral ventricle
- Hydrocephaly
- Hypospadias / epispadias / bent penis
- Micropenis / small penis / agenesis
- Patent ductus arteriosus
- Rib number anomalies
- Sclerocornea
- Ventricular septal defect / interventricular communication