ODCs

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1 associated gene
17 signs/symptoms

COMMON GENES: 1

1 OMIM reference -
1 associated gene
No signs/symptoms info

Osteosclerosis - developmental delay - craniosynostosis

Autosomal dominant osteopetrosis type 1

LRP5

Citations in the biomedical literature:

Osteosclerosis - developmental delay - craniosynostosis		Autosomal dominant osteopetrosis type 1

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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: <1 / 1 000 000 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: adolescence / young Average age of death: normal Type of inheritance: autosomal dominant

	External references: No OMIM references No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C536056

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
Autosomal dominant osteopetrosis type 1
(no data available)