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1 OMIM reference -
3 associated genes
No signs/symptoms info
COMMON GENES: 1
PROTEIN INTERACTIONS: 1
Retinopathy of prematurity
Osteosclerosis - developmental delay - craniosynostosis

FZD4 LRP5
LRP5
NDP


COMMON
GENES
LRP5


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
NDP
(0.63)
LRP5



Citations in the biomedical literature:


Retinopathy of prematurity
FZD4 LRP5 NDP
Osteosclerosis - developmental delay - craniosynostosis



Retinopathy of prematurity
Osteosclerosis - developmental delay - craniosynostosis

Synonym(s):
- ROP
- Retrolental fibroplasia

Synonym(s):
(no synonyms)

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

Classification (ICD10):
- Diseases of the eye and adnexa -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
(no data available)
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: D012178
External references:
No OMIM references
No MeSH references

Osteosclerosis - developmental delay - craniosynostosis

Very frequent
- Autosomal dominant inheritance
- Brachycephaly / flat occiput
- Broad forehead
- Dense / thickened skull / calvarium / cranial / facial hyperostosis
- Enlargment of jaw / large jaw
- High forehead
- Hypertelorism
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Osteosclerosis / osteopetrosis / bone condensation

Frequent
- Craniostenosis / craniosynostosis / sutural synostosis

Occasional
- Cranial hypertension
- Facial pain / cephalalgia / migraine
- Facial palsy
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Visual loss / blindness / amblyopia


Retinopathy of prematurity

(no data available)