ODCs

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

COMMON GENES: 1

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

Autosomal recessive cutis laxa type 2B

PYCR1-related DeBarsy syndrome

Citations in the biomedical literature:

Autosomal recessive cutis laxa type 2B		PYCR1-related DeBarsy syndrome
	Synonym(s): - ARCL2, progeroid type - ARCL2B - Autosomal recessive cutis laxa type 2, progeroid type		Synonym(s): - PYCR1 deficiency - Pyrroline-5-carboxylate reductase 1 deficiency

	Classification (Orphanet): - Inborn errors of metabolism - Rare abdominal surgical disease - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare skin disease - Rare surgical thoracic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare abdominal surgical disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare skin disease - Rare surgical thoracic disease

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

	Epidemiological data: (no data available)		Epidemiological data: (no data available)

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

No signs/symptoms info available.