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Meet Raphael (14067) Open ID Donor
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- Yeux : Bruns
- Cheveux : Noirs
- Taille : 5'08"
- Poids (en livres) : 178
- Groupe sanguin : O Rh+
- CMV : +
- Origine ethnique : Hispanic, Mexican
- Ascendance juive : Non
- Éducation/profession : Enrolled in a Bachelors Degree Program / Student
- Grossesse confirmée : Oui
Résultats des tests génétiques
- Dépistage étendu : Counsyl Foresight Panel (at least 175 conditions)
- Transporteur pour :
- No disease causing mutations detected
- Résultats pour Karyotyping / Amyotrophie musculaire spinale :
- Amyotrophie musculaire spinale: No disease causing mutations detectedative result: SMN1: 3+ copies.
- Résultats sans maladie causant des mutations : Découvre
- Karyotyping
- Cystic Fibrosis
- Adenosine Deaminase Deficiency
- ABCC8-related Hyperinsulinism
- Alpha-mannosidosis
- Alpha Thalassemia
- Andermann Syndrome
- Argininosuccinic Aciduria
- ARSACS
- Aspartylglycosaminuria
- Ataxia With Vitamin E Deficiency
- Ataxia-telangiectasia
- Autosomal Recessive Polycystic Kidney Disease
- Bardet-Biedl Syndrome, BBS1-related
- Bardet-Biedl Syndrome, BBS10-related
- Biotinidase Deficiency
- Bloom Syndrome
- Canavan Disease
- Carnitine Palmitoyltransferase IA Deficiency
- Carnitine Palmitoyltransferase II Deficiency
- Cartilage-hair Hypoplasia
- Citrullinemia Type 1
- CLN3-related Neuronal Ceroid Lipofuscinosis
- CLN5-related Neuronal Ceroid Lipofuscinosis
- Cohen Syndrome
- 21-hydroxylase Deficient Congenital Adrenal Hyperplasia
- Congenital Disorder Of Glycosylation Type Ia
- Congenital Disorder Of Glycosylation Type Ib
- Congenital Finnish Nephrosis
- Costeff Optic Atrophy Syndrome
- Cystinosis
- D-bifunctional Protein Deficiency
- Dihydrolipoamide Dehydrogenase Deficiency
- Familial Dysautonomia
- Familial Mediterranean Fever
- Fanconi Anemia Type C
- Galactosemia
- Gaucher Disease
- GJB2-related DFNB1 Nonsyndromic Hearing Loss And Deafness
- Glutaric Acidemia Type 1
- Glycogen Storage Disease Type Ia
- Glycogen Storage Disease Type Ib
- Glycogen Storage Disease Type II
- Glycogen Storage Disease Type III
- GRACILE Syndrome
- Hb Beta Chain-related Hemoglobinopathy (including Beta Thalassemia And Sickle Cell Disease)
- Hereditary Fructose Intolerance
- HMG-CoA Lyase Deficiency
- Herlitz Junctional Epidermolysis Bullosa, LAMB3-related
- Herlitz Junctional Epidermolysis Bullosa, LAMC2-related
- Hexosaminidase A Deficiency (including Tay-Sachs Disease)
- Homocystinuria Caused By Cystathionine Beta-synthase Deficiency
- Hurler Syndrome
- Hypophosphatasia, Autosomal Recessive
- Inclusion Body Myopathy 2
- Isovaleric Acidemia
- Joubert Syndrome 2
- Junctional Epidermolysis Bullosa, LAMA3-related
- Krabbe Disease
- Limb-girdle Muscular Dystrophy Type 2D
- Limb-girdle Muscular Dystrophy Type 2E
- Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
- Maple Syrup Urine Disease Type 1A
- Maple Syrup Urine Disease Type 1B
- Medium Chain Acyl-CoA Dehydrogenase Deficiency
- Megalencephalic Leukoencephalopathy With Subcortical Cysts
- Metachromatic Leukodystrophy
- Methylmalonic Acidemia MUT-related
- Methylmalonic Aciduria And Homocystinuria Type CbIC
- Mucolipidosis IV
- Mucopolysaccharidosis Type I
- Muscle-eye-brain Disease
- NEB-related Nemaline Myopathy
- Niemann-Pick Disease Type C
- Niemann-Pick Disease, SMPD1-associated
- Nijmegen Breakage Syndrome
- Northern Epilepsy
- Pendred Syndrome
- PEX1-related Zellweger Syndrome Spectrum
- Phenylalanine Hydroxylase Deficiency
- Polyglandular Autoimmune Syndrome Type 1
- PPT1-related Neuronal Ceroid Lipofuscinosis
- Primary Carnitine Deficiency
- Primary Hyperoxaluria Type 1
- Primary Hyperoxaluria Type 2
- PROP1-related Combined Pituitary Hormone Deficiency
- Pycnodysostosis
- Rhizomelic Chondrodysplasia Punctata Type 1
- Salla Disease
- Sandhoff Disease
- Segawa Syndrome
- Short Chain Acyl-CoA Dehydrogenase Deficiency
- Sjogren-Larsson Syndrome
- Smith-Lemli-Opitz Syndrome
- Sulfate Transporter-related Osteochondrodysplasia (SLC26A2)
- TPP1-related Neuronal Ceroid Lipofuscinosis
- Tyrosinemia Type I
- Usher Syndrome Type 1F
- Usher Syndrome Type 3
- Very Long Chain Acyl-CoA Dehydrogenase Deficiency
- Walker-Warburg Syndrome
- Wilson Disease
- Maple Syrup Urine Disease Type II
- 6-pyruvoyl-tetrahydropterin Synthase Deficiency
- 11-beta-hydroxylase-deficient Congenital Adrenal Hyperplasia
- Alstrom Syndrome
- AMT-related Glycine Encephalopathy
- Argininemia
- ATP7A-related Disorders
- Autosomal Recessive Osteopetrosis Type 1
- Bardet-Biedl Syndrome, BBS12-related
- Bardet-Biedl Syndrome, BBS2-related
- Calpainopathy
- Carbamoylphosphate Synthetase I Deficiency
- Cerebrotendinous Xanthomatosis
- CLN6-related Neuronal Ceroid Lipofuscinosis
- COL4A3-related Alport Syndrome
- COL4A4-related Alport Syndrome
- Congenital Disorder Of Glycosylation Type Ic
- Delta-sarcoglycanopathy
- Dysferlinopathy
- Dystrophinopathy (including Duchenne/Becker Muscular Dystrophy)
- ERCC6-related Disorders
- ERCC8-related Disorders
- EVC-related Ellis-van Creveld Syndrome
- EVC2-related Ellis-van Creveld Syndrome
- Fabry Disease
- Fanconi Anemia Complementation Group A
- FKRP-related Disorders
- Galactokinase Deficiency
- Gamma-sarcoglycanopathy
- GLB1-related Disorders
- GLDC-related Glycine Encephalopathy
- GNPTAB-related Disorders
- Holocarboxylase Synthetase Deficiency
- Hydrolethalus Syndrome
- KCNJ11-related Familial Hyperinsulinism
- LAMA2-related Muscular Dystrophy
- Leigh Syndrome, French-Canadian Type
- Lipoid Congenital Adrenal Hyperplasia
- Lysosomal Acid Lipase Deficiency
- Methylmalonic Acidemia, CblA Type
- Methylmalonic Acidemia, CblB Type
- MKS1-related Disorders
- Mucolipidosis III Gamma
- Mucopolysaccharidosis Type II
- Mucopolysaccharidosis Type IIIA
- Mucopolysaccharidosis Type IIIB
- Mucopolysaccharidosis Type IIIC
- MYO7A-related Disorders
- Niemann-Pick Disease Type C2
- Ornithine Transcarbamylase Deficiency
- PCCA-related Propionic Acidemia
- PCCB-related Propionic Acidemia
- Peroxisome Biogenesis Disorder Type 3
- Peroxisome Biogenesis Disorder Type 4
- Peroxisome Biogenesis Disorder Type 5
- Peroxisome Biogenesis Disorder Type 6
- Primary Hyperoxaluria Type 3
- Pyruvate Carboxylase Deficiency
- RTEL1-related Disorders
- Spastic Paraplegia Type 15
- Spondylothoracic Dysostosis
- TGM1-related Autosomal Recessive Congenital Ichthyosis
- Tyrosinemia Type II
- USH1C-related Disorders
- USH2A-related Disorders
- X-linked Adrenoleukodystrophy
- X-linked Alport Syndrome
- X-linked Congenital Adrenal Hypoplasia
- X-linked Juvenile Retinoschisis
- X-linked Myotubular Myopathy
- X-linked Severe Combined Immunodeficiency
- Xeroderma Pigmentosum Group A
- Xeroderma Pigmentosum Group C
- Nephrotic Syndrome (NPHS2-Related)
Description du Donneur
Raphael is a warmhearted, motivated, and easy-going guy. He is quite charming with tan skin, kind eyes, and dimples on both cheeks that are very complimenting. We always enjoy his relaxed and easy-going personality; he is very social and a true conversationalist. Raphael is currently studying structural engineering, and one day hopes to pursue a career in this field, while also having a family of his own.
In his free time, he enjoys staying active by playing soccer, volleyball, basketball, and even badminton! Overall, Raphael values the importance by family planning and joined our program to be able to help other families create their own.
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Informations détaillées
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