Namn: SE*Staypawsitive Mighty winds Boreas
Född: 2019-08-16
Färg: DRX n 02 64
Far: Vi-Za-Vi*UA Harold
Mor: SE*FairyDust Gaia

Tester:

Långhår: N/N, N/N

Blodgrupp: B

Blood DisordersErythrocyte Pyruvate Kinase (PK) Deficiency CLEAR Blood DisordersFactor XII Deficiency CLEAR
Blood DisordersHemophilia B, mutation F9: c.1014C>T CLEAR
Blood DisordersHemophilia B, mutation F9: c.247G>A CLEAR

Cardiac DisordersHypertrophic Cardiomyopathy, MYBPC3 mutation: A31P found in Maine Coon CLEAR
Cardiac DisordersHypertrophic Cardiomyopathy, MYBPC3 mutation: c.2460C>T found in Ragdoll CLEAR

Endocrine DisordersCongenital Adrenal Hyperplasia CLEAR

Immunologic DisordersAutoimmune Lymphoproliferative Syndrome CLEAR
Immunologic DisordersCongenital Hypotrichosis with Short Life Expectancy CLEAR

Metabolic DisordersAcute Intermittent Porphyria CLEAR
Metabolic DisordersAcute Intermittent Porphyria; HMBS mutation: c.107_110delACAG CLEAR
Metabolic DisordersAcute Intermittent Porphyria; HMBS mutation: c.826-1G>A CLEAR
Metabolic DisordersAcute Intermittent Porphyria; HMBS mutation: c.844delGAG CLEAR
Metabolic DisordersChylomicronemia, Lipoprotein Lipase DeficiencyCLEARMetabolic DisordersCongenital Erythropoietic Porphyria, mutation UROS: c.331G>A CLEAR
Metabolic DisordersCystinuria; SCL3A1 mutationCLEARMetabolic DisordersCystinuria; SCL7A9 mutation: c.1175C>T CLEAR
Metabolic DisordersCystinuria; SCL7A9 mutation: c.706G>A CLEAR
Metabolic DisordersCystinuria; SCL7A9 mutation: c.881A>T CLEAR
Metabolic DisordersDihydropyrimidinuriaCLEARMetabolic DisordersMucopolysaccharidosis Type I CLEAR
Metabolic DisordersMucopolysaccharidosis Type VI (MPS VI), Typical Form CLEAR
Metabolic DisordersMucopolysaccharidosis Type VII, mutation GUSB: c.1074G>ACLEARMetabolic DisordersMucopolysaccharidosis VII; GUSB mutation C1424T CLEAR
Metabolic DisordersVitamin D-Dependent Rickets (VDDR-1A); CYP27B mutation: c.G637T CLEAR

Muscular DisordersMyotonia Congenita CLEAR
Muscular DisordersPeriodic Hypokalemic Polymyopathy, Burmese Hypokalemia, or Familial Episodic Hypokalaemic Polymyopathy CLEAR
Muscular DisordersSpinal Muscular Atrophy (SMA)/Spinal Muscular Dystrophy CLEAR

Neurologic DisordersFeline GM1 GangliosidosisCLEARNeurologic DisordersGM2 Gangliosidosis, Domestic Shorthair mutation HEXB: c.1467_1491inv CLEAR
Neurologic DisordersGM2 Gangliosidosis, Japanese Domestic mutation HEXB: c.667C>T CLEAR
Neurologic DisordersGM2 Gangliosidosis; Domestic Shorthair GM2A Mutation CLEAR
Neurologic DisordersNiemann-Pick C2, NPC Disease, Sphingomyelinosis NPC2 Mutation CLEAR
Neurologic DisordersNiemann–Pick C1, NPC Disease, Sphingomyelinosis NPC1 Mutation CLEAR

Neuromuscular DisordersGlycogen Storage Disease Type IV CLEAR

Ocular DisordersBengal Progressive Atrophy CLEAR

Renal DisordersHyperoxaluria CLEAR
Renal DisordersPolycystic Kidney Disease CLEAR

Skeletal DisordersBurmese Head Defect CLEAR
Skeletal DisordersOsteochondrodysplasia and Folded Ears; TRPV4 mutation p.V342F CLEAR