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Meet Richard (13162)
New Donor
Richard is a warm and inviting man, standing at 6 feet tall with a medium build. His light brown hair is stylishly side-parted, lending him a neat appearance that pairs well with his fair complexion. His vibrant green eyes, round and piercing, give a curious vibe and with a calm personality, Richard has a way to put others at ease. His playful nature is evident in his easy smile and light-hearted humor, making him someone people naturally gravitate towards. Whether he’s sharing a joke or simply enjoying a moment of conversation, Richard brings a sense of joy to every interaction.
Richard is a friendly team member at a neurology clinic, where he delves into the fascinating world of the brain every day. Languages come naturally to him—he effortlessly juggles German, English, and French, impressing everyone with his multilingual skills. Math? No problem! He aced the SAT with a perfect 800, showcasing his impressive numerical prowess. Outside of work, Richard is a devoted hockey fan, passionately cheering for his favorite team during every game. Fun fact: his favorite animal is the fruit bat, a quirky choice that reflects his unique personality! Above all, Richard takes great pride in being a wonderful friend, always ready to lend support or share a good laugh.
Green
Light Brown
6'00"
190
AB Rh-
+
Anglo-Saxon, Caucasian, Scandinavian
No
B.S. in Molecular and Cellular Neuroscience / Neurology Clinic Scheduler
No
Fulgent Beacon 515 Panel
-
Heterozygous carriers displayed variable degrees of enzymatic deficiency, with few exceptions, but are generally asymptomatic
-
- Cystic Fibrosis
- Adenosine Deaminase Deficiency
- ABCC8-related Hyperinsulinism
- Achromatopsia
- 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
- Bloom Syndrome
- Canavan Disease
- Carnitine Palmitoyltransferase IA Deficiency
- Cartilage-hair Hypoplasia
- 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
- Fanconi Anemia Type C
- 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
- 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
- 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
- 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 IIIA
- Mucopolysaccharidosis Type IIIB
- Mucopolysaccharidosis Type IIIC
- MYO7A-related Disorders
- Niemann-Pick Disease Type C2
- 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
- Xeroderma Pigmentosum Group A
- Xeroderma Pigmentosum Group C
- 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
- 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH)
- Abetalipoproteinemia (MTTP)
- Achalasia-addisonianism-alacrimia Syndrome
- Acrodermatitis Enteropathica
- Acute Infantile Liver Failure
- Acyl-CoA Oxidase I Deficiency
- Aicardi-Gouti?res Syndrome (SAMHD1-Related)
- Aicardi-Goutieres Syndrome (RNASEH2C-related)
- Aicardi-Goutieres Syndrome 1 (and Other TREX1-related Retinal Dystroph
- 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
- Bartter Syndrome, Type 4A
- Beta-Ketothiolase Deficiency
- Beta-mannosidosis
- BH4-deficient Hyperphenylalaninemia C
- BH4-deficient Hyperphenylalaninemia D
- Carnitine Acylcarnitine Translocase Deficiency
- Carpenter Syndrome
- Catecholaminergic Polymorphic Ventricular Tachycardia
- CD59-mediated Hemolytic Anemia
- Cerebral Creatine Deficiency Syndrome 2
- Cerebral Creatine Deficiency Syndrome 3
- Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratode
- Charcot-Marie-Tooth Disease, Type 4D
- Chediak-Higashi Syndrome
- Choreoacanthocytosis
- Chronic Granulomatous Disease (CYBA-related)
- Citrin 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 Disorder Of Deglycosylation
- Congenital Dyserythropoietic Anemia Type 2
- 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
- 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
- Dystrophic Epidermolysis Bullosa
- Ehlers-Danlos Syndrome, Type VI
- Ehlers-Danlos Syndrome, Type VIIC
- Enhanced S-Cone Syndrome
- Familial Autosomal Recessive Hypercholesterolemia
- Familial Hypercholesterolemia (LDLR-related)
- Familial Hyperinsulinemic Hypoglycemia 4 / 3-Hydroxyacyl-CoA Dehydroge
- Familial Hyperphosphatemic Tumoral Calcinosis
- Fanconi Anemia, Group G
- Fructose-1,6-Bisphosphatase Deficiency
- Fucosidosis
- Galactose Epimerase Deficiency
- Galactosialidosis
- Geroderma Osteodysplasticum
- Gitelman Syndrome
- Glanzmann Thrombasthenia (ITGB3-related)
- Glutaric Acidemia, Type IIa
- Glutaric Acidemia, Type IIb
- Glutaric Acidemia, Type IIc
- Glycogen Storage Disease, Type IV / Adult Polyglucosan Body Disease
- Glycogen Storage Disease, Type IXb
- Glycogen Storage Disease, Type VII
- Hawkinsinuria / Tyrosinemia, Type III
- 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
- Homocystinuria, CblE Type
- Homocystinuria-Megaloblastic Anemia, Cobalamin G Type
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
- Hypoparathyroidism-retardation-dysmorphic Syndrome
- 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)
- 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
- Leukoencephalopathy With Vanishing White Matter
- Lipoprotein Lipase Deficiency
- Lysinuric Protein Intolerance
- Malonyl-CoA Decarboxylase Deficiency
- MEDNIK Syndrome
- Megaloblastic Anemia 1
- Mental Retardation, Autosomal Recessive 3
- 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 (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 (PET100-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 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, Type II
- Nephronophthisis 2
- 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
- Papillon-Lefevre Syndrome
- Peroxisome Biogenesis Disorder 7A And 7B
- 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 (CCDC39-related)
- Primary Ciliary Dyskinesia (DNAH5-Related)
- Primary Ciliary Dyskinesia (DNAI1-Related)
- Primary Ciliary Dyskinesia (DNAI2-related)
- Progressive Cerebello-Cerebral Atrophy
- Progressive Familial Intrahepatic Cholestasis, Type 2
- Progressive Pseudorheumatoid Dysplasia
- Prolidase Deficiency
- Pulmonary Surfactant Dysfunction
- Pyridoxamine 5'-Phosphate Oxidase Deficiency
- Pyridoxine-Dependent Epilepsy
- 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)
- 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
- Sialidosis, Type I And Type II
- Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephal
- Spinal Muscular Atrophy With Respiratory Distress 1 / Charcot-Marie-To
- Spondylocostal Dysostosis 1
- Steel Syndrome
- Stickler Syndrome (and Other COL11A2 Related Deafness Disorders)
- Stuve-Wiedemann Syndrome
- Thiamine-responsive Megaloblastic Anemia Syndrome
- Thyroid Dyshormonogenesis 1
- Thyroid Dyshormonogenesis 2A
- Thyroid Dyshormonogenesis 3
- Thyroid Dyshormonogenesis 6
- Trichohepatoenteric Syndrome 1
- Usher Syndrome, Type ID
- Vitamin D-dependent Rickets, Type I
- Vitamin D-resistant Rickets, Type IIA
- Werner Syndrome
- Wolcott-Rallison Syndrome
- Woodhouse-Sakati Syndrome
- Xeroderma Pigmentosum Variant (POLH-related)
- Nephrotic Syndrome (NPHS1-Related)
- Nephrotic Syndrome (NPHS2-Related)
- RYR1-related Diseases
- TMEM67-related Conditions
- ABCA4-related Conditions
- 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
- 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)
- Hereditary Hemochromatosis Type 2 (HAMP)
- Hereditary 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)
- GJB6-CRYL1 Related Nonsyndromic Hearing Loss UK
- GJB6-CRYL1 Related Nonsyndromic Hearing Loss