• Eyes: Brown
• Hair: Brown
• Height: 5'10"
• Weight (lbs): 129
• Blood: O Rh+
• CMV: -
• Ethnicity: Mix, Asian, Caucasian, Korean, Northern European
• Jewish Ancestry: No
• Education/Occupation: BS in Finance Business in progress / Pilot Training in Progress / Student / Hospitality
• Live Birth / Pregnancy Confirmed: No

Test Results

• Extended Testing: No
• Carrier For:
  • No disease causing mutations detected
• Results for Karyotyping / Spinal Muscular Atrophy:
  • Spinal Muscular Atrophy: SMN1 copy number: 2, SMN2 copy number: 2, c.*3+80T>G: No disease causing mutations detectedative, SMN1 Sequencing: No disease causing mutations detectedative
• Results with No Disease Causing Mutations: View full list
  • Karyotyping
  • Cystic Fibrosis
  • Adenosine Deaminase Deficiency
  • ABCC8-related Hyperinsulinism
  • Achromatopsia
  • Alkaptonuria
  • 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
  • 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
  • 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-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC2-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)
  • Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome
  • 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)