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Meet Test (9999)
Family Slot Donor
This donor is a test donor.
Black
Black
6'02"
160
AB Rh+
+
No
Exploring opportunities
No
Sema4 Elements 502 Panel
-
- Cystic Fibrosis (CFTR) : Carrier
- Beta-Thalassemia : Carrier
- X-linked Juvenile Retinoschisis : Carrier
- Dystrophinopathy (including Duchenne/Becker Muscular Dystrophy) (DMD) : Carrier
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC2-Related) (MCCC2) : Carrier
- Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome (WNT10A) : Carrier
- Autosomal Recessive Infantile Epileptic Encephalopathy (UBA5) : Inconclusive
- Spastic Paraplegia 7 (SPG7) : Carrier
-
This donor has been found positive for GLB1-related disorders. This is TEST COMMENT Text to see how it works. This is a second Test comment to see how they merge together
-
- Adenosine Deaminase Deficiency
- ABCC8-related Hyperinsulinism
- Achromatopsia
- Alkaptonuria
- Alpha-1 Antitrypsin Deficiency
- 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
- Choroideremia
- Citrullinemia Type 1
- CLN3-related Neuronal Ceroid Lipofuscinosis
- CLN5-related Neuronal Ceroid Lipofuscinosis
- CLN8-related Neuronal Ceroid Lipofuscinosis
- Cohen Syndrome
- 21-hydroxylase Deficient Congenital Adrenal Hyperplasia
- Congenital Disorder Of Glycosylation Type Ia
- Congenital Disorder Of Glycosylation Type Ib
- Costeff Optic Atrophy Syndrome
- Cystinosis
- D-bifunctional Protein Deficiency
- Dihydrolipoamide Dehydrogenase Deficiency
- Ethylmalonic Encephalopathy
- Factor XI Deficiency
- Familial Dysautonomia
- Familial Mediterranean Fever
- Fanconi Anemia Type C
- Fragile X Syndrome
- Galactosemia
- Gaucher Disease
- GJB2-related DFNB1 Nonsyndromic Hearing Loss And Deafness
- Glutaric Acidemia Type 1
- Glutathione Synthetase Deficiency
- Glycogen Storage Disease Type Ia
- Glycogen Storage Disease Type Ib
- Glycogen Storage Disease Type II
- Glycogen Storage Disease Type III
- Glycogen Storage Disease Type V
- GRACILE Syndrome
- Hb Beta Chain-related Hemoglobinopathy (including Beta Thalassemia And Sickle Cell Disease)
- Hereditary Fructose Intolerance
- HMG-CoA Lyase Deficiency
- Holocarboxylase Synthetase Deficiency
- Hexosaminidase A Deficiency (including Tay-Sachs Disease)
- Homocystinuria Caused By Cystathionine Beta-synthase Deficiency
- Hypophosphatasia, Autosomal Recessive
- Inclusion Body Myopathy 2
- Isovaleric Acidemia
- Joubert Syndrome 2
- Junctional Epidermolysis Bullosa, LAMA3-related
- Junctional Epidermolysis Bullosa, LAMB3-related
- Junctional Epidermolysis Bullosa, LAMC2-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 MMAA-related
- Methylmalonic Acidemia MMAB-related
- Methylmalonic Acidemia MUT-related
- Methylmalonic Aciduria And Homocystinuria Type CbIC
- MTHFR Deficiency
- Mucolipidosis IV
- Mucopolysaccharidosis Type I
- Muscle-eye-brain Disease
- NEB-related Nemaline Myopathy
- Niemann-Pick Disease, SMPD1-associated
- Nijmegen Breakage Syndrome
- 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
- Propionic Acidemia, PCCA-Related
- Propionic Acidemia, PCCB-Related
- 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
- 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
- Hydrolethalus Syndrome
- KCNJ11-related Familial Hyperinsulinism
- LAMA2-related Muscular Dystrophy
- Leigh Syndrome, French-Canadian Type
- Lipoid Congenital Adrenal Hyperplasia
- Lysosomal Acid Lipase Deficiency
- 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
- 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
- Tay-Sachs Enzyme (panel Part)
- 2-methylbutyrylglycinuria
- 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC1-Related)
- 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH)
- Abetalipoproteinemia (MTTP)
- Achalasia-addisonianism-alacrimia Syndrome
- Achromatopsia 2
- Acrodermatitis Enteropathica
- Acute Infantile Liver Failure
- Acyl-CoA Oxidase I Deficiency
- Adams-Oliver Syndrome 4
- Adrenocorticotropic Hormone Deficiency
- Agammaglobulinemia (X-linked)
- Agenesis Of The Corpus Callosum
- Aicardi-Gouti?res Syndrome (SAMHD1-Related)
- Aicardi-Goutieres Syndrome (RNASEH2C-related)
- Aicardi-Goutieres Syndrome 1 (and Other TREX1-related Retinal Dystroph
- Alpha-Thalassemia Mental Retardation Syndrome
- Angelman Syndrome
- Anterior Segment Dysgenesis (CYP1B1-related) / Glaucoma (CYP1B1-relate
- Antley-Bixler Syndrome (POR-related)
- Aromatase Deficiency
- Arthrogryposis, Mental Retardation, And Seizures (SLC35A3)
- Asparagine Synthetase Deficiency
- Ataxia-Telangiectasia-Like Disorder (MRE11)
- Bardet-Biedl Syndrome (ARL6-related)
- Bardet-Biedl Syndrome (BBS4-related)
- Bardet-Biedl Syndrome (TRIM32-related)
- Bare Lymphocyte Syndrome, Type II
- Barth Syndrome
- Bartter Syndrome, Type 3
- Bartter Syndrome, Type 4A
- Bernard-Soulier Syndrome, Type A1
- Bernard-Soulier Syndrome, Type C
- Beta-Ketothiolase Deficiency
- Beta-mannosidosis
- BH4-deficient Hyperphenylalaninemia C
- BH4-deficient Hyperphenylalaninemia D
- Bilateral Frontoparietal Polymicrogyria
- Carnitine Acylcarnitine Translocase Deficiency
- Carpenter Syndrome
- Catecholaminergic Polymorphic Ventricular Tachycardia
- CD59-mediated Hemolytic Anemia
- Central Hypothyroidism And Testicular Enlargement
- Cerebral Creatine Deficiency Syndrome 1
- Cerebral Creatine Deficiency Syndrome 2
- Cerebral Creatine Deficiency Syndrome 3
- Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratode
- Charcot-Marie-Tooth Disease, Type 4D
- Charcot-Marie-Tooth Disease, Type 5 / Arts Syndrome
- Charcot-Marie-Tooth Disease, X-Linked
- Chediak-Higashi Syndrome
- Chondrodysplasia Punctata (X-linked)
- Choreoacanthocytosis
- Chronic Granulomatous Disease (CYBA-related)
- Chronic Granulomatous Disease (CYBB-related)
- Citrin Deficiency
- Combined Factor V And VIII Deficiency
- Combined Malonic And Methylmalonic Aciduria
- Combined Oxidative Phosphorylation Deficiency 1
- Combined Oxidative Phosphorylation Deficiency 3
- Combined Pituitary Hormone Deficiency 1
- Combined Pituitary Hormone Deficiency 3
- Combined SAP Deficiency
- Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
- Congenital Adrenal Insufficiency (CYP11A1-related)
- Congenital Amegakaryocytic Thrombocytopenia (MPL)
- Congenital Bile Acid Synthesis Defect (AKR1D1-Related)
- Congenital Bile Acid Synthesis Defect (HSD3B7-Related)
- Congenital Disorder Of Deglycosylation
- Congenital Disorder Of Glycosylation, Type Im
- Congenital Dyserythropoietic Anemia Type 2
- Congenital Dyserythropoietic Anemia, Type Ia
- Congenital Ichthyosis 4A And 4B
- Congenital Insensitivity To Pain With Anhidrosis
- Congenital Myasthenic Syndrome (CHAT-related)
- Congenital Myasthenic Syndrome (CHRNE-Related)
- Congenital Myasthenic Syndrome (DOK7-related)
- Congenital Myasthenic Syndrome (RAPSN-Related)
- Congenital Neutropenia (HAX1-Related)
- Congenital Neutropenia (VPS45-Related)
- Congenital Nongoitrous Hypothryoidism 1 / Nonautoimmune Hyperthyroidis
- Congenital Nongoitrous Hypothryoidism 4
- Congenital Secretory Chloride Diarrhea 1
- Corneal Dystrophy And Perceptive Deafness
- Corticosterone Methyloxidase Deficiency
- Cystinuria (SLC3A1-related)
- Cytochrome C Oxidase Deficiency / Leigh Syndrome (COX15-related)
- Deafness, Autosomal Recessive 3
- Deafness, Autosomal Recessive 59
- Deafness, Autosomal Recessive 7 / Deafness, Autosomal Dominant 36
- Deafness, Autosomal Recessive 76
- Deafness, Autosomal Recessive 77
- Deafness, Autosomal Recessive 8
- Deafness, Autosomal Recessive 9 / Auditory Neuropathy
- Desbuquois Dysplasia 1
- Desmosterolosis
- Diaphanospondylodysostosis
- Distal Renal Tubular Acidosis / Spherocytosis, Type 4
- Dyskeratosis Congenita (X-linked)
- Dystrophic Epidermolysis Bullosa
- Ehlers-Danlos Syndrome, Type VI
- Ehlers-Danlos Syndrome, Type VIIC
- Emery-Dreifuss Myopathy 1
- Enhanced S-Cone Syndrome
- Factor IX Deficiency
- Factor VII Deficiency
- Familial Autosomal Recessive Hypercholesterolemia
- Familial Hypercholesterolemia (LDLR-related)
- Familial Hyperinsulinemic Hypoglycemia 4 / 3-Hydroxyacyl-CoA Dehydroge
- Familial Hyperphosphatemic Tumoral Calcinosis
- Fanconi Anemia, Group G
- Fanconi-Bickel Syndrome
- Fructose-1,6-Bisphosphatase Deficiency
- Fucosidosis
- Fundus Albipunctatus (RDH5-related)
- Galactose Epimerase Deficiency
- Galactosialidosis
- Generalized Thyrotropin-Releasing Hormone Resistance
- Geroderma Osteodysplasticum
- Gitelman Syndrome
- Glanzmann Thrombasthenia (ITGA2B-related)
- Glanzmann Thrombasthenia (ITGB3-related)
- Glutaric Acidemia, Type IIa
- Glutaric Acidemia, Type IIb
- Glutaric Acidemia, Type IIc
- Glycogen Storage Disease, Type 0
- Glycogen Storage Disease, Type IV / Adult Polyglucosan Body Disease
- Glycogen Storage Disease, Type IXb
- Glycogen Storage Disease, Type VI
- Glycogen Storage Disease, Type VII
- Gray Platelet Syndrome
- Growth Hormone Deficiency, Type IB
- Hawkinsinuria / Tyrosinemia, Type III
- Hemochromatosis, Type 2A
- Hemochromatosis, Type 3
- Hereditary Leiomyomatosis And Renal Cell Cancer / Fumarase Deficiency
- Hereditary Spastic Paraparesis 49
- Hermansky-Pudlak Syndrome (HPS4-related)
- Hermansky-Pudlak Syndrome (HPS6-related)
- Hermansky-Pudlak Syndrome, Type 1
- Hermansky-Pudlak Syndrome, Type 3
- HMG-CoA Synthase 2 Deficiency
- Homocystinuria, CblE Type
- Homocystinuria-Megaloblastic Anemia, Cobalamin G Type
- Hydrocephalus (X-linked)
- Hyper-IgM Syndrome (X-linked)
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
- Hyperparathyroidism/hypocalcemia/type I Hypocalciuric Hypercalcemia/ps
- Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis
- Hypohidrotic Ectodermal Dysplasia 1
- Hypomagnesemia 1
- Hypomyelinating Leukodystrophy 3
- Hypoparathyroidism-retardation-dysmorphic Syndrome
- Hypophosphatemic Rickets With Hypercalciuria
- Hypotrichosis 8 / Autosomal Recessive Woolly Hair 1
- Immunodeficiency 18
- Immunodeficiency 19
- Infantile Cerebral And Cerebellar Atrophy
- Infantile Neuroaxonal Dystrophy 1 And Other PLA2G6-related Disorders
- Intrahepatic Cholestasis
- Joubert Syndrome (and Other NPHP1-related Ciliopathies)
- Joubert Syndrome 7 / Meckel Syndrome 5 / COACH Syndrome
- Junctional Epidermolysis Bullosa (COL17A1-related)
- Junctional Epidermolysis Bullosa (ITGA6-related)
- Junctional Epidermolysis Bullosa (ITGB4-related)
- Kohlschutter-Tonz Syndrome
- Laron Dwarfism
- Leber Congenital Amaurosis (and Other AIPL1-related Ciliopathies)
- Leber Congenital Amaurosis (and Other GUCY2D-related Ciliopathies)
- Leber Congenital Amaurosis (and Other TULP1-related Retinopathies)
- Leber Congenital Amaurosis 10 And Other CEP290-Related Ciliopathies
- Leber Congenital Amaurosis 13
- Leber Congenital Amaurosis 2 / Retinitis Pigmentosa 20
- Leber Congenital Amaurosis 5
- Leber Congenital Amaurosis 8 / Retinitis Pigmentosa 12 / Pigmented Par
- Leigh Syndrome (NDUFS7-related)
- Leigh Syndrome (SURF1-related)
- Lethal Congenital Contracture Syndrome 1 / Lethal Arthrogryposis With
- Lethal Congenital Contracture Syndrome 2
- Lethal Congenital Contracture Syndrome 3
- Leukoencephalopathy With Vanishing White Matter
- Limb-girdle Muscular Dystrophy, Type 2L
- Lipoprotein Lipase Deficiency
- Lowe Syndrome (X-linked)
- Lysinuric Protein Intolerance
- Malonyl-CoA Decarboxylase Deficiency
- MEDNIK Syndrome
- Megaloblastic Anemia 1
- Mental Retardation, Autosomal Recessive 3
- Methionine Adenosyltransferase I/III Deficiency
- Methylmalonic Aciduria And Homocystinuria, Cobalamin D Type
- Methylmalonic Aciduria And Homocystinuria, Cobalamin F Type
- Methylmalonyl-CoA Epimerase Deficiency
- Microcephaly 9, Primary, AR / Seckel Syndrome 5 (CEP152-related)
- Microphthalmia / Anophthalmia
- Mitochondrial Complex I Deficiency (ACAD9-Related)
- Mitochondrial Complex I Deficiency (NDUFA11-related)
- Mitochondrial Complex I Deficiency (NDUFAF5-Related)
- Mitochondrial Complex I Deficiency (NDUFS6-Related)
- Mitochondrial Complex I Deficiency (NDUFV1-related)
- Mitochondrial Complex I Deficiency / Leigh Syndrome (FOXRED1-related)
- Mitochondrial Complex I Deficiency / Leigh Syndrome (NDUFAF2-related)
- Mitochondrial Complex I Deficiency / Leigh Syndrome (NDUFS4-related)
- Mitochondrial Complex IV Deficiency (COX20-related)
- Mitochondrial Complex IV Deficiency (COX6B1-related)
- Mitochondrial Complex IV Deficiency (APOPT1-related)
- Mitochondrial Complex IV Deficiency (PET100-related)
- Mitochondrial Complex IV Deficiency (SCO1-Related)
- Mitochondrial Complex IV Deficiency / Leigh Syndrome (COX10-related)
- Mitochondrial DNA Depletion Syndrome 2
- Mitochondrial DNA Depletion Syndrome 3
- Mitochondrial DNA Depletion Syndrome 4A And 4B And Other POLG-related
- Mitochondrial DNA Depletion Syndrome 5
- Mitochondrial DNA Depletion Syndrome 6 / Navajo Neurohepatopathy
- Mitochondrial Myopathy And Sideroblastic Anemia 1
- Mitochondrial Trifunctional Protein Deficiency (HADHB-Related)
- Molybdenum Cofactor Deficiency A
- Mucolipidosis II / IIIA
- Mucopolysaccharidosis Type IIID
- Mucopolysaccharidosis Type IVa
- Mucopolysaccharidosis Type VI
- Mucopolysaccharidosis VII
- Mucopolysaccharidosis?type IX
- Mulibrey Nanism
- Multiple Congenital Anomalies-hypotonia-seizures Syndrome 1
- Multiple Pterygium Syndrome
- Multiple Sulfatase Deficiency (SUMF1)
- Myoneurogastrointestinal Encephalopathy
- N-Acetylglutamate Synthase Deficiency
- Nephrogenic Diabetes Insipidus (AVPR2-Related) / Nephrogenic Syndrome
- Nephrogenic Diabetes Insipidus, Type II
- Nephronophthisis 2
- Neurodegeneration Due To Cerebral Folate Transport Deficiency
- Neuronal Ceroid-Lipofuscinosis (MFSD8-Related)
- Niemann-Pick Disease, Type C (NPC1-Related)
- Oculocutaneous Albinism (SLC45A2-related)
- Oculocutaneous Albinism (TYR-related)
- Oculocutaneous Albinism (TYRP1-related)
- Omenn Syndrome (RAG2-Related)
- Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type
- Omenn Syndrome And Other RAG1-related Disorders
- Ornithine Aminotransferase Deficiency
- Osteogenesis Imperfecta, Type XI
- Osteopetrosis 8
- Papillon-Lefevre Syndrome
- Peroxisome Biogenesis Disorder 7A And 7B
- PLAA-related Neurodevelopmental Disorders
- Pontocerebellar Hypoplasia, Type 1A
- Pontocerebellar Hypoplasia, Type 1B
- Pontocerebellar Hypoplasia, Type 2A And Type 4
- Pontocerebellar Hypoplasia, Type 2E
- Pontocerebellar Hypoplasia, Type 6
- Primary Ciliary Dyskinesia (CCDC103-related)
- Primary Ciliary Dyskinesia (CCDC151-related)
- Primary Ciliary Dyskinesia (CCDC39-related)
- Primary Ciliary Dyskinesia (DNAH5-Related)
- Primary Ciliary Dyskinesia (DNAI1-Related)
- Primary Ciliary Dyskinesia (DNAI2-related)
- Primary Ciliary Dyskinesia (RSPH9-related)
- Primary Coenzyme Q10 Deficiency 7
- Progressive Cerebello-Cerebral Atrophy
- Progressive Familial Intrahepatic Cholestasis, Type 2
- Progressive Myoclonic Epilepsy, Type 1B
- Progressive Pseudorheumatoid Dysplasia
- Prolidase Deficiency
- Pulmonary Surfactant Dysfunction
- Pyridoxamine 5'-Phosphate Oxidase Deficiency
- Pyridoxine-Dependent Epilepsy
- Pyruvate Dehydrogenase E1-Alpha Deficiency
- Pyruvate Dehydrogenase E1-Beta Deficiency
- Renal Tubular Acidosis And Deafness
- Retinitis Pigmentosa 25
- Retinitis Pigmentosa 26
- Retinitis Pigmentosa 28
- Retinitis Pigmentosa 36
- Retinitis Pigmentosa 59 (DHDDS)
- Retinitis Pigmentosa 64 (and Other C8orf37-related Retinal Dystrophies
- Rh Deficiency Syndrome
- Rhizomelic Chondrodysplasia Punctata, Type 3
- Roberts Syndrome
- Salt And Pepper Developmental Regression Syndrome
- Schimke Immunoosseous Dysplasia
- Sepiapterin Reductase Deficiency
- Severe Combined Immunodeficiency (IL7R-Related)
- Severe Combined Immunodeficiency (JAK3-related)
- Severe Combined Immunodeficiency (PTPRC-related)
- Severe Congenital Neutropenia 4
- Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
- Shwachman-Diamond Syndrome
- Sialidosis, Type I And Type II
- SMN2 COPIES
- Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephal
- Spherocytosis, Type 5
- Spinal Muscular Atrophy With Respiratory Distress 1 / Charcot-Marie-To
- Spinocerebellar Ataxia With Axonal Neuropathy 3
- Spondylocostal Dysostosis 1
- Spondylometaepiphyseal Dysplasia (DDR2-related)
- Steel Syndrome
- Stickler Syndrome (and Other COL11A2 Related Deafness Disorders)
- Stuve-Wiedemann Syndrome
- Telephone Genetic Counseling Summary
- Thiamine-responsive Megaloblastic Anemia Syndrome
- Thyroid Dyshormonogenesis 1
- Thyroid Dyshormonogenesis 2A
- Thyroid Dyshormonogenesis 3
- Thyroid Dyshormonogenesis 4
- Thyroid Dyshormonogenesis 5
- Thyroid Dyshormonogenesis 6
- Trichohepatoenteric Syndrome 1
- Usher Syndrome, Type ID
- Vitamin D-dependent Rickets, Type I
- Vitamin D-resistant Rickets, Type IIA
- Werner Syndrome
- Wiskott-Aldrich Syndrome (WAS-related, X-linked)
- Wolcott-Rallison Syndrome
- Woodhouse-Sakati Syndrome
- Xeroderma Pigmentosum Variant (POLH-related)
- Xeroderma Pigmentosum, Group G
- Nephrotic Syndrome (NPHS1-Related)
- Nephrotic Syndrome (NPHS2-Related)
- RYR1-related Diseases
- NOTCH1-related Disease
- TMEM67-related Conditions
- NADSYN1-related Conditions
- ABCA4-related Conditions
- Pseudoxanthoma Elasticum (ABCC6-related)
- Autosomal Recessive Infantile Epileptic Encephalopathy
- Glucose Transporter Type 1 Deficiency Syndrome
- Tuberous Sclerosis, AD (TSC2-related)
- Trimethylaminuria
- Leukoencephalopathy With Vanishing White Matter
- Progressive Familial Intrahepatic Cholestasis 3 (ABCB4)
- Dubin-Johnson Syndrome (ABCC2)
- Isolated Ectopia Lentis (ADAMTSL4)
- Polymicrogyria (ADGRG1)
- ADGRV1-related Conditions (ADGRV1)
- AHI1-related Conditions (AHI1)
- Congenital Disorder Of Glycosylation Type Ik (ALG1)
- Spinocerebellar Ataxia (ANO10)
- BBS5-related Conditions (BBS5)
- Bardet-Biedl Syndrome (BBS7)
- Bardet-Biedl Syndrome (BBS9)
- Hermansky-Pudlak Syndrome Type 8 (BLOC1S3)
- Hermansky-Pudlak Syndrome Type 9 (BLOC1S6)
- Osteogenesis Imperfecta (BMP1)
- BRIP1-related Conditions (BRIP1)
- Developmental And Epileptic Encephalopathy (CAD)
- CC2D2A-related Conditions (CC2D2A)
- Congenital Hydrocephalus-1 (CCDC88C)
- Hyper-IgM Immunodeficiency (CD40)
- Myotonia Congenita (CLCN1)
- Osteogenesis Imperfecta (CRTAP)
- Neuronal Ceroid Lipofuscinosis Type 10 (CTSD)
- CYP7B1-related Conditions (CYP7B1)
- Warsaw Syndrome
- PJVK-related Conditions (DFNB59 aka PJVK)
- Congenital Chronic Diarrhea (DGAT1)
- Primary Ciliary Dyskinesia (DNAH11)
- Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 1 (DNMT3B)
- DYNC2H1-related Conditions (DYNC2H1)
- Leukoencephalopathy With Vanishing White Matter (EIF2B1)
- Leukoencephalopathy With Vanishing White Matter (EIF2B3)
- Leukoencephalopathy With Vanishing White Matter (EIF2B4)
- Familial Dysautonomia (ELP1)
- Vici Syndrome
- Xeroderma Pigmentosum, Group G
- Fanconi Anemia Type D2 (FANCD2)
- Fanconi Anemia Type E (FANCE)
- Fanconi Anemia Type I (FANCI)
- Fanconi Anemia Type L (FANCL)
- Parkinson Disease 15 (FBXO7)
- Severe Combined Immunodeficiency Due To FOXN1 deficiency (FOXN1)
- Fraser Syndrome (FRAS1)
- Fraser Syndrome (FREM2)
- GCH1-related Conditions (GCH1)
- GDF5-related Conditions (GDF5)
- Retinitis Pigmentosa 36 (GNPAT)
- Fraser Syndrome (GRIP1)
- Gereditary Hemochromatosis Type 2 (HAMP)
- Gereditary Hemochromatosis Type 2 (HJV)
- Geme Oxygenase 1 Deficiency (HMOX1)
- Hermansky-Pudlak Syndrome Type 5 (HPS5)
- 17-beta Hydroxysteroid Dehydrogenase 3 Deficiency (HSD17B3)
- Combined Immunodeficiency Due To IKBKB deficiency (IKBKB)
- Bartter Syndrome Type 2 (KCNJ1)
- Muscular Dystrophy-dystroglycanopathy (LARGE1)
- LIG4 syndrome (LIG4)
- LRAT-related Conditions (LRAT)
- Donnai-Barrow Syndrome (LRP2)
- Retinitis Pigmentosa 62 (MAK)
- Primary Microcephaly
- Childhood-onset Dystonia With Optic Atrophy And Basal Ganglia Abnormalities (MECR)
- MKKS-related Conditions (MKKS)
- Molybdenum Cofactor Deficiency (MOCS2)
- MUSK-related Conditions (MUSK)
- MVK-related Conditions (MVK)
- Alpha-N-acetylgalactosaminidase Deficiency (NAGA)
- Chronic Granulomatous Disease (NCF2)
- NSMCE3 deficiency (NSMCE3)
- Oculocutaneous Albinism Type 2 OCA2)
- OSTM1 deficiency Associated Osteopetrosis (OSTM1)
- OTOF-related Conditions (OTOF)
- Osteogenesis Imperfecta (P3H1)
- Pantothenate Kinase-associated Neurodegeneration (PANK2)
- Microcephalic Osteodysplastic Primordial Dwarfism Type II (PCNT)
- Zellweger Spectrum Disorder (PEX13-related)
- Zellweger Spectrum Disorder (PEX16-related)
- PEX5-related Conditions (PEX5)
- PGM3-congenital Disorder Of Glycosylation (PGM3)
- Glycogen Storage Disease Type IXc (PHKG2)
- Refsum Disease (PHYH)
- PLEKHG5-related Conditions (PLEKHG5)
- Muscular Dystrophy-dystroglycanopathy (POMT1)
- Muscular Dystrophy-dystroglycanopathy (POMT2)
- Brittle Cornea Syndrome (PRDM5-related)
- Familial Hemophagocytic Lymphohistiocytosis Type 2 (PRF1)
- RLBP1-related Conditions (RLBP1)
- Aicardi-Goutieres Syndrome 4
- Aicardi-Goutieres Syndrome 2
- Muscular Dystrophy-dystroglycanopathy (RXYLT1)
- SAMD9-related Conditions (SAMD9)
- Cardioencephalomyopathy (SCO2)
- Trichohepatoenteric Syndrome (SKIV2L)
- Bartter Syndrome Type 1 (SLC12A1)
- Biotin-responsive Basal Ganglia Disease (SLC19A3)
- Ichthyosis Prematurity Syndrome (SLC27A4)
- Foveal Hypoplasia (SLC38A8)
- SPG11-related Conditions (SPG11)
- Steroid 5-alpha-reductase Deficiency (SRD5A2)
- Familial Hemophagocytic Lymphohistiocytosis Type 4 (STX11)
- Familial Hemophagocytic Lymphohistiocytosis Type 5 (STXBP2)
- Sulfite Oxidase Deficiency (SUOX)
- Metabolic Crises With Rhabdomyolysis, Cardiac Arrhythmias And Neurodegeneration (TANGO2)
- Progressive Early-onset Encepahlopathy With Brain Atrophy And Thin Corpus Callosum (PEBAT) (TBCD)
- Transcobalamin II Deficiency (TCN2)
- Dyskeratosis Congenita Spectrum Disorders (TERT)
- Atransferrinemia (TF)
- Johanson-Blizzard Syndrome (UBR1)
- Familial Hemophagocytic Lymphohistiocytosis Type 3 (UNC13D)
- Cerebellar Ataxia, Intellectual Disability, And Dysequilibrium Syndrome 1 (VLDLR)
- Immunodeficiency-centromeric Instability-facial Anomalies Syndrome 2 (ZBTB24)
- Brittle Cornea Syndrome (ZNF469)
- SCN1A-related Disorders
- MECKEL SYNDROME 7/ NEPHRONOPHTHISIS
- Friedreich Ataxia
- FTCD-related Disorders
- GJB6-CRYL1 Related Nonsyndromic Hearing Loss UK
- GJB6-CRYL1 Related Nonsyndromic Hearing Loss