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Syndactyly type 3

1 OMIM reference -
1 associated gene
4 signs/symptoms

PROTEIN INTERACTIONS: 1

PYCR1-related DeBarsy syndrome

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

Syndactyly type 3

PYCR1-related DeBarsy syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	GJA1	(0.63)	PYCR1

Citations in the biomedical literature:

Syndactyly type 3		PYCR1-related DeBarsy syndrome
	Synonym(s): - SD3 - Syndactyly of fingers 4 and 5		Synonym(s): - PYCR1 deficiency - Pyrroline-5-carboxylate reductase 1 deficiency

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic 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: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - 1 MeSH reference: C538154		External references: 1 OMIM reference - No MeSH references

Syndactyly type 3
	Very frequent - Autosomal dominant inheritance - Syndactyly of fingers / interdigital palm Frequent - Camptodactyly of some fingers Occasional - Short foot / brachydactyly of toes
PYCR1-related DeBarsy syndrome
(no data available)