ODCs

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2 OMIM references -
3 associated genes
No signs/symptoms info

PROTEIN INTERACTIONS: 1

1 associated gene
17 signs/symptoms

Persistent hyperplastic primary vitreous

Osteosclerosis - developmental delay - craniosynostosis


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

Citations in the biomedical literature:

Persistent hyperplastic primary vitreous		Osteosclerosis - developmental delay - craniosynostosis
	Synonym(s): - PFVS - PHPV - Persistent fetal vasculature syndrome		Synonym(s): (no synonyms)

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

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

	Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - 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 dominant

	External references: 2 OMIM references - 1 MeSH reference: D054514		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
Persistent hyperplastic primary vitreous
(no data available)