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

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Select all conditions on this page	Conditions	Synonyms
Select item 489789	Maternal care for suspected chromosomal abnormality in fetus
Select item 1845578	Werdnig-Hoffmann disease	HMN (Hereditary Motor Neuropathy) Proximal Type I Muscular atrophy, infantile Proximal spinal muscular atrophy, type 1 SMA I SMA, infantile acute form Spinal muscular atrophy 1
Select item 101816	Kugelberg-Welander disease	Juvenile Spinal Muscular Atrophy Kugelberg-Welander syndrome Muscular atrophy, juvenile SMA 3 SMA III SPINAL MUSCULAR ATROPHY, TYPE III Spinal muscular atrophy type 3 Spinal muscular atrophy, mild childhood and adolescent form
Select item 120653	Holocarboxylase synthetase deficiency	MULTIPLE CARBOXYLASE DEFICIENCY, EARLY ONSET
Select item 75556	Coffin-Lowry syndrome	COFFIN-LOWRY SYNDROME, MILD Coffin syndrome Mental retardation with osteocartilaginous abnormalities
Select item 334304	Alzheimer disease 3	ALZHEIMER DISEASE, FAMILIAL, 3 Alzheimer disease early onset type 3
Select item 5342	Glycogen storage disease, type VII	GSD VII Glycogen storage disease type 7 Muscle phosphofructokinase deficiency Tarui disease
Select item 7755	Spinal muscular atrophy	Spinal Muscular Atrophy (SMN1) Spinal Muscular Atrophy (SMN2)
Select item 95975	Spinal muscular atrophy, type II	Muscular atrophy, spinal, infantile chronic form Muscular atrophy, spinal, intermediate type SMA 2 SMA II Spinal muscular atrophy type 2
Select item 376072	Alzheimer disease 4	Alzheimer Disease Risk Factor (APOE Genotype) Alzheimer disease familial type 4
Select item 1853	Alzheimer disease	Alzheimer's disease Presenile and senile dementia
Select item 274	Amyotrophic lateral sclerosis	Charcot disease Lou Gehrig disease
Select item 873604	3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	3-METHYLGLUTACONIC ACIDURIA, TYPE VI MEGDEL syndrome
Select item 325364	Spinal muscular atrophy, type IV	Adult spinal muscular atrophy Adult-onset spinal muscular atrophy SMA 4 Spinal muscular atrophy type 4 Spinal muscular atrophy, adult form Spinal muscular atrophy, proximal, adult, autosomal recessive
Select item 400197	Alzheimer disease 2	ALZHEIMER DISEASE 2, LATE-ONSET ALZHEIMER DISEASE ASSOCIATED WITH APOE4 Alzheimer disease associated with APOE E4 Late-onset familial alzheimer disease
Select item 400428	GRACILE syndrome	Fellman syndrome Finnish lactic acidosis with hepatic hemosiderosis Finnish lethal neonatal metabolic syndrome Growth Retardation, Aminoaciduria, Cholestasis, Iron overload, Lactic acidosis and Early death
Select item 480294	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	LIVER FAILURE, INFANTILE, TRANSIENT Liver failure acute infantile
Select item 450497	Trastuzumab response	Herceptin response
Select item 78540	Hecht syndrome	Arthrogryposis distal type 7 Dutch-Kentucky syndrome MOUTH, INABILITY TO OPEN COMPLETELY, AND SHORT FINGER-FLEXOR TENDONS Trismus-Pseudocamptodactyly Syndrome
Select item 1677784	Lethal arthrogryposis-anterior horn cell disease syndrome	CONGENITAL ARTHROGRYPOSIS WITH ANTERIOR HORN CELL DISEASE Lethal arthrogryposis with anterior horn cell disease

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