ODCs

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

PROTEIN INTERACTIONS: 1

6 OMIM references -
5 associated genes
9 signs/symptoms

Autosomal recessive spastic ataxia of Charlevoix-Saguenay

Split hand-split foot malformation


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SACS	(0.72)	TP63

Citations in the biomedical literature:

Autosomal recessive spastic ataxia of Charlevoix-Saguenay		Split hand-split foot malformation
	Synonym(s): - ARSACS		Synonym(s): - Ectrodactyly - Lobster-claw deformity - SHFM - Split hand foot malformation

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

	Classification (ICD10): - Diseases of the nervous system -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: unknown Average age onset: childhood Average age of death: - Type of inheritance: autosomal recessive		Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C536787		External references: 6 OMIM references - No MeSH references

Split hand-split foot malformation
	Very frequent - Autosomal dominant inheritance - Oligodactyly / ectrodactyly of fingers Frequent - Syndactyly of fingers / interdigital palm Occasional - Aniridia / iris hypoplasia - Autosomal recessive inheritance - Hand agenesis / absence - Sensorineural deafness / hearing loss - Trident hand / split hand / abnormal median ray - X-linked recessive inheritance
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
(no data available)