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Simpson-Golabi-Behmel syndrome type 1 | RareConnect | RareConnect.io

/hereditary disease

/Simpson-Golabi-Behmel syndrome

/Simpson-Golabi-Behmel syndrome type 1

Simpson-Golabi-Behmel syndrome type 1

Rare Disease

MONDO:0020602

Also Known As

DGSX Golabi-Rosen syndromeGPC3 Simpson-Golabi-Behmel syndromeSGBS1Simpson dysmorphia syndromeSimpson-Golabi-Behmel syndrome caused by mutation in GPC3Simpson-Golabi-Behmel syndrome type 1Simpson-Golabi-Behmel syndrome, type 1, X-linked recessivebulldog syndromeGolabi-Rosen syndromeSgbsSimpson-Golabi-Behmel syndrome, type 1dysplasia gigantism syndrome, X-linked

Definition

Any Simpson-Golabi-Behmel syndrome in which the cause of the disease is a mutation in the GPC3 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:312870 ↗

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