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

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Results: 1 to 9 of 9

Select all conditions on this page	Conditions	Synonyms
Select item 162903	Deafness dystonia syndrome Tests Gene GeneReviews	DDON syndrome DYSTONIA-DEAFNESS SYNDROME, X-LINKED Deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency Deafness-Dystonia-Optic Neuronopathy Syndrome Deafness-dystonia-optic atrophy syndrome Deafness-dystonia-optic neuronopathy (DDON) syndrome Jensen syndrome Mohr-Tranebjaerg syndrome Nerve deafness optic nerve atrophy, and dementia OPTICOACOUSTIC NERVE ATROPHY WITH DEMENTIA Opticoacustic nerve atrophy with dementia Syndrome of opticoacoustic nerve atrophy with dementia
Select item 1645969	Limbic encephalitis with LGI1 antibodies Tests Genes GeneReviews
Select item 65085	Velocardiofacial syndrome Tests Genes GeneReviews	Shprintzen VCF syndrome Shprintzen syndrome VCF SYNDROME VCF syndome
Select item 57931	Hereditary coproporphyria Tests Gene GeneReviews	CPO deficiency CPOX DEFICIENCY CPRO deficiency CPX deficiency Coproporphyrinogen oxidase deficiency Hereditary coproporphyria porphyria Porphyria hepatica II Porphyria hepatica coproporphyria
Select item 337637	Spinocerebellar ataxia type 17 Tests Gene GeneReviews	Cerebelloparenchymal disorder II HUNTINGTON DISEASE-LIKE 4 Olivopontocerebellar atrophy 5 Olivopontocerebellar atrophy V SCA 17 Spinocerebellar Ataxia Type17
Select item 381361	Autosomal dominant Parkinson disease 4 Tests Gene GeneReviews	PARKINSON DISEASE 4, AUTOSOMAL DOMINANT LEWY BODY Parkinson disease 4
Select item 6112	Lipid proteinosis Tests Gene GeneReviews	Hyalinosis cutis et mucosae LIPOID PROTEINOSIS Lipoid Proteinosis of Urbach and Wiethe Lipoproteinosis Urbach Wiethe disease
Select item 907932	Early-onset Lafora body disease Tests Gene GeneReviews	Epilepsy, progressive myoclonic, 10
Select item 934586	Intellectual disability, autosomal recessive 59 Tests Gene GeneReviews

Results: 1 to 9 of 9

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