Clinical and research tests for RNU6-46 - Genetic Testing Registry (GTR)

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Select all conditions on this page	Conditions	Synonyms
Select item 382614	Retinitis pigmentosa 46	RETINITIS PIGMENTOSA, AUTOSOMAL RECESSIVE, IDH3B-RELATED
Select item 833619	Cowden syndrome 1
Select item 462405	Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	Adrenal insufficiency, congenital, with 46,XY sex reversal, partial or complete Congenital adrenal insuffiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency P450scc DEFICIENCY
Select item 78554	Bannayan-Riley-Ruvalcaba syndrome	Bannayan-Zonana syndrome Macrocephaly multiple lipomas and hemangiomata Macrocephaly pseudopapilledema and multiple hemangiomas Riley-Smith syndrome Ruvalcaba -Myhre-Smith syndrome
Select item 445380	Pure gonadal dysgenesis 46,XY	46, XY CGD 46, XY complete gonadal dysgenesis 46, XY pure gonadal dysgenesis 46,XY complete gonadal dysgenesis 46,XY sex reversal Gonadal dysgenesis, XY female type
Select item 368366	PTEN hamartoma tumor syndrome	PTEN Hamartomatous Tumour Syndrome
Select item 424734	46,XX testicular disorder of sex development	46, XX gonadal sex reversal 46,XX testicular DSD XX male syndrome XX sex reversal
Select item 318833	Frontotemporal dementia and/or amyotrophic lateral sclerosis 7	AMYOTROPHIC LATERAL SCLEROSIS, CHMP2B-RELATED Amyotrophic lateral sclerosis 17 CHMP2B-related frontotemporal dementia Frontotemporal dementia, chromosome 3-linked
Select item 934654	Developmental and epileptic encephalopathy, 46	Epileptic encephalopathy, early infantile, 46
Select item 473687	Hereditary spastic paraplegia 46	Spastic paraplegia 46, autosomal recessive
Select item 1373282	46,XX sex reversal 4	46, XX sex reversal 4 46,XX SEX REVERSAL, SRY-NEGATIVE
Select item 358137	Tubulointerstitial kidney disease, autosomal dominant, 2	Medullary cystic kidney disease 1 Medullary cystic kidney disease, autosomal dominant Polycystic kidneys, medullary type
Select item 338026	Mosaic variegated aneuploidy syndrome 1	Warburton-Anyane-Yeboa syndrome
Select item 113102	Cataract 46 juvenile-onset	CATARACT 46, JUVENILE-ONSET, WITH OR WITHOUT ARRHYTHMIC CARDIOMYOPATHY Cataract Hutterite type Cataracts, Autosomal Recessive
Select item 337255	Intellectual disability, X-linked 46
Select item 863720	Intellectual disability, autosomal recessive 46	INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 46
Select item 1726728	Spermatogenic failure 46
Select item 1799556	TFRC-related combined immunodeficiency	Immunodeficiency 46
Select item 461281	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	PALMOPLANTAR HYPERKERATOSIS WITH SQUAMOUS CELL CARCINOMA OF SKIN AND SEX REVERSAL Palmoplantar hyperkeratosis with squamous cell carcinoma of skin and 46,XX sex reversal
Select item 1624251	Spinocerebellar ataxia 46	SPINOCEREBELLAR ATAXIA, 46, AUTOSOMAL DOMINANT, WITH SENSORY AXONAL NEUROPATHY

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