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Adams-Oliver syndrome 1 | RareConnect | RareConnect.io

/Adams-Oliver syndrome

/non-syndromic limb reduction defect

/Adams-Oliver syndrome 1

Adams-Oliver syndrome 1

Rare Disease

MONDO:0024506

Also Known As

AOS1ARHGAP31 Adams-Oliver syndromeAdams-Oliver syndrome 1Adams-Oliver syndrome caused by mutation in ARHGAP31AOSabsence defect of limbs, scalp, and skullaplasia cutis congenita with terminal transverse limb defectsaplasia cutis congenita, congenital heart defect, and frontonasal cystscongenital scalp defects with distal limb reduction anomalies

Definition

Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene.

Patient-Friendly Information

Comprehensive, easy-to-understand information about this condition

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Associated Genes

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

OMIM

OMIM:100300 ↗

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