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Hypochondrogenesis

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

COMMON GENES: 1

Multiple epiphyseal dysplasia, Beighton type

1 OMIM reference -
1 associated gene
10 signs/symptoms

Hypochondrogenesis

Multiple epiphyseal dysplasia, Beighton type

(UniProt - OMIM)

(UniProt - OMIM)


COMMON GENES	COL2A1

Citations in the biomedical literature:

Hypochondrogenesis		Multiple epiphyseal dysplasia, Beighton type
	Synonym(s): (no synonyms)		Synonym(s): - Multiple epiphyseal dysplasia - myopia - deafness

	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: 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: - Average age of death: - Type of inheritance: autosomal dominant

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

Multiple epiphyseal dysplasia, Beighton type
	Very frequent - Absent / small fingernails / anonychia of hands - Autosomal dominant inheritance - Conductive deafness / hearing loss - Epiphyseal anomaly - Flat face - Microstomia / little mouth - Myopia - Round face - Short hand / brachydactyly Frequent - Cataract / lens opacification
Hypochondrogenesis
(no data available)