Clinical and research tests for SDC - Genetic Testing Registry (GTR)

Results: 1 to 11 of 11

Select all conditions on this page	Conditions	Synonyms
Select item 332390	Hereditary cryohydrocytosis with reduced stomatin	GLUT1 DEFICIENCY SYNDROME WITH PSEUDOHYPERKALEMIA AND HEMOLYSIS Stomatin-deficient cryohydrocytosis with neurologic defects
Select item 855172	Bardet-Biedl syndrome 16
Select item 156019	Bardet-Biedl syndrome
Select item 462227	Senior-Loken syndrome 7
Select item 422452	Bardet-Biedl syndrome 1
Select item 96045	Renal dysplasia and retinal aplasia	Renal dysplasia retinal aplasia Senior-Loken syndrome
Select item 885912	Inherited obesity	Monogenic Obesity
Select item 373381	Spondyloepiphyseal dysplasia with congenital joint dislocations	CHST3-Related Skeletal Dysplasia Humero-spinal dysostosis with congenital heart disease Humerospinal Dysostosis Kozlowski Celermajer Tink syndrome Spondyloepiphyseal Dysplasia, Omani Type
Select item 375051	Aural atresia, congenital	AURAL ATRESIA, CONGENITAL, WITH HYPOSMIA
Select item 381579	Metaphyseal chondrodysplasia-retinitis pigmentosa syndrome	Retinitis pigmentosa with or without skeletal anomalies
Select item 1754849	Intellectual developmental disorder with speech delay and axonal peripheral neuropathy

Results: 1 to 11 of 11

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