Family Slots
Family Slots
€250.00
0 Available Slots
0 Used Slots
0 Reported Pregnancies or Births
Purchase Vials
IUI Units
€995.00
18 units available
ICI Units
Inventory field not found for this product SKU.
No Current Inventory
IUI A.R.T. Units
€895.00
0 units available
No Current Inventory
ICI A.R.T. Units
Inventory field not found for this product SKU.
No Current Inventory
ICSI Units
€795.00
0 units available
No Current Inventory
Meet Rogue
Active
Family Slot Donor
Rogue is a charismatic, outgoing, intelligent, and handsome new addition to the donor program. Standing at 6ft he has a solid build with broad shoulders and defined muscles. He maintains an active lifestyle and makes health and fitness a priority. He has a fair complexion that allows his dazzling large blue eyes to really shine. Rogue has a luxurious head of light brown hair that he always has styled and on point. He has symmetrical facial features that are highlighted by high set cheekbones with just a little rose color to them, full lips, straight white teeth, and a genuinely kind smile.Rogue has completed his education obtaining a bachelor's degree in business and works as an investment analyst. In his spare time, he enjoys heading outdoors for hiking and backpacking, tinkering with circuit boards, and delving into a good book. He is easy to talk to and a natural conversationalist. Rogue strives to be the best at everything he tries, and we believe he will have a very successful future.
Eyes
Blue
Hair
Light Brown
Height
183 cm
Weight
82 kg
Blood
A Rh+
CMV
+
Ethnicity
Caucasian, German, Scottish
Education/Occupation
B.A. Finance o / Investment Analyst
Live Birth/Pregnancy Confirmed
No
Genetic Carrier Screening Panel Completed by Donor
Sema4 Elements 502 Panel
Carrier Screening Results Positive For
No disease causing mutations detected
Karyotype Result
Karyotyping results not available.
Results with No Disease Causing Mutations
- Dihydrolipoamide Dehydrogenase Deficiency
- Fanconi anemia type C
- Glycogen storage disease type Ia
- Hereditary fructose intolerance
- Isovaleric acidemia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Metachromatic leukodystrophy
- Propionic Acidemia, PCCB-Related
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- COL4A3-related Alport syndrome
- GLDC-related glycine encephalopathy
- Mucopolysaccharidosis type IIIC
- Achromatopsia 2
- Agenesis of the corpus callosum
- Barth Syndrome
- Cerebral Creatine Deficiency Syndrome 2
- Cystic fibrosis
- Bardet-Biedl syndrome, BBS10-related
- Congenital disorder of glycosylation type Ia
- Gaucher disease
- Glutaric acidemia type 1
- Limb-girdle muscular dystrophy type 2D
- Mucolipidosis IV
- Polyglandular autoimmune syndrome type 1
- Short chain acyl-CoA dehydrogenase deficiency
- Carbamoylphosphate synthetase I deficiency
- Galactokinase deficiency
- Mucopolysaccharidosis type II
- TGM1-related autosomal recessive congenital ichthyosis
- 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
- Aicardi-Goutieres syndrome 1 (and other TREX1-related retinal dystroph
- Anterior segment dysgenesis (CYP1B1-related) / Glaucoma (CYP1B1-relate
- Alpha-Mannosidosis
- Argininosuccinic Aciduria
- Carnitine palmitoyltransferase II deficiency
- Citrullinemia type 1
- Nijmegen breakage syndrome
- Usher syndrome type 1F
- Delta-sarcoglycanopathy
- ERCC6-related disorders
- Bardet-Biedl syndrome (BBS4-related)
- CD59-mediated hemolytic anemia
- Deafness, autosomal recessive 7 / Deafness, autosomal dominant 36
- Factor VII deficiency
- Glanzmann thrombasthenia (ITGB3-related)
- Hereditary leiomyomatosis and renal cell cancer / fumarase deficiency
- Hypomyelinating leukodystrophy 3
- Leber congenital amaurosis (and other AIPL1-related ciliopathies)
- Mitochondrial complex I deficiency (NDUFA11-related)
- Mitochondrial DNA depletion syndrome 5
- Mucopolysaccharidosis Type IVa
- N-Acetylglutamate Synthase Deficiency
- Oculocutaneous albinism (SLC45A2-related)
- Osteopetrosis 8
- Pontocerebellar hypoplasia, type 2E
- Spondylocostal dysostosis 1
- Vitamin D-resistant rickets, type IIA
- Bernard-Soulier Syndrome, Type A1
- Beta-mannosidosis
- Chediak-Higashi syndrome
- Emery-Dreifuss Myopathy 1
- Galactose Epimerase Deficiency
- Geroderma osteodysplasticum
- Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis
- Junctional epidermolysis bullosa (ITGB4-related)
- Leukoencephalopathy with vanishing white matter
- Lowe syndrome (X-linked)
- Mitochondrial complex I deficiency (NDUFV1-related)
- Progressive pseudorheumatoid dysplasia
- Pyridoxamine 5-Phosphate Oxidase Deficiency
- Roberts Syndrome
- Sepiapterin Reductase Deficiency
- Stickler syndrome (and other COL11A2 related deafness disorders)
- Wolcott-Rallison syndrome
- Combined Malonic and Methylmalonic Aciduria
- Combined Pituitary Hormone Deficiency 1
- Congenital Insensitivity to Pain with Anhidrosis
- Congenital myasthenic syndrome (DOK7-related)
- Deafness, autosomal recessive 8
- Familial Hyperinsulinemic Hypoglycemia 4 / 3-Hydroxyacyl-CoA Dehydroge
- Glutaric Acidemia, Type IIc
- Hermansky-Pudlak syndrome (HPS6-related)
- Leber Congenital Amaurosis 8 / Retinitis Pigmentosa 12 / Pigmented Par
- Methylmalonic Aciduria and Homocystinuria, Cobalamin D Type
- Mitochondrial complex IV deficiency (PET100-related)
- Mucopolysaccharidosis?type IX
- Multiple pterygium syndrome
- Odonto-Onycho-Dermal Dysplasia / Schopf-Schulz-Passarge Syndrome
- Omenn syndrome and other RAG1-related disorders
- Primary Ciliary Dyskinesia (DNAI1-Related)
- Retinitis Pigmentosa 26
- Shwachman-Diamond syndrome
- Achromatopsia
- Bloom syndrome
- Costeff optic atrophy syndrome
- Junctional Epidermolysis Bullosa, LAMB3-related
- Methylmalonic Acidemia MUT-related
- Pendred syndrome
- Salla disease
- Walker-Warburg syndrome
- AMT-related glycine encephalopathy
- Hydrolethalus syndrome
- Ornithine transcarbamylase deficiency
- Primary hyperoxaluria type 3
- USH2A-related disorders
- Xeroderma pigmentosum group A
- 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH)
- Charcot-Marie-Tooth Disease, Type 4D
- Congenital Adrenal Hyperplasia due to 17-Alpha-Hydroxylase Deficiency
- Congenital dyserythropoietic anemia type 2
- Congenital Neutropenia (VPS45-Related)
- Cytochrome c oxidase deficiency / Leigh syndrome (COX15-related)
- Desmosterolosis
- Fanconi-Bickel syndrome
- Growth hormone deficiency, type IB
- Hyper-IgM syndrome (X-linked)
- Hypotrichosis 8 / autosomal recessive woolly hair 1
- Joubert Syndrome 7 / Meckel Syndrome 5 / COACH Syndrome
- Lethal Congenital Contracture Syndrome 1 / Lethal Arthrogryposis with
- Microcephaly 9, primary, AR / Seckel syndrome 5 (CEP152-related)
- Mitochondrial DNA depletion syndrome 2
- Primary ciliary dyskinesia (CCDC151-related)
- Pyruvate Dehydrogenase E1-Beta Deficiency
- Severe combined immunodeficiency (PTPRC-related)
- Thiamine-responsive megaloblastic anemia syndrome
- Trichohepatoenteric syndrome 1
- Xeroderma Pigmentosum, Group G
- Adenosine Deaminase Deficiency
- Autosomal recessive polycystic kidney disease
- Congenital disorder of glycosylation type Ib
- Aspartylglycosaminuria
- CLN5-related neuronal ceroid lipofuscinosis
- Familial dysautonomia
- Maple syrup urine disease type 1A
- MTHFR deficiency
- Muscle-eye-brain disease
- Phenylalanine hydroxylase deficiency
- PPT1-related neuronal ceroid lipofuscinosis
- Sjogren-Larsson syndrome
- Bardet-Biedl syndrome, BBS2-related
- Cerebrotendinous xanthomatosis
- Fanconi anemia complementation group A
- Gamma-sarcoglycanopathy
- Angelman syndrome
- Beta-Ketothiolase Deficiency
- Charcot-Marie-Tooth Disease, X-Linked
- Congenital Amegakaryocytic Thrombocytopenia (MPL)
- Congenital disorder of deglycosylation
- Corticosterone Methyloxidase Deficiency
- Ehlers-Danlos syndrome, type VI
- Galactosialidosis
- Hawkinsinuria / Tyrosinemia, type III
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
- Laron dwarfism
- Lipoprotein Lipase Deficiency
- Mitochondrial Complex I Deficiency (NDUFS6-Related)
- Mitochondrial Myopathy and Sideroblastic Anemia 1
- Nephrogenic Diabetes Insipidus, Type II
- Neuronal Ceroid-Lipofuscinosis (MFSD8-Related)
- Pontocerebellar hypoplasia, type 1B
- Prolidase deficiency
- Salt and pepper developmental regression syndrome
- Spondylometaepiphyseal dysplasia (DDR2-related)
- Xeroderma pigmentosum variant (POLH-related)
- Primary hyperoxaluria type 2
- Sulfate transporter-related osteochondrodysplasia (SLC26A2)
- MKS1-related disorders
- Niemann-Pick disease type C2
- Pyruvate carboxylase deficiency
- USH1C-related disorders
- Xeroderma pigmentosum group C
- Carpenter Syndrome
- Citrin Deficiency
- Congenital dyserythropoietic anemia, type Ia
- Congenital Neutropenia (HAX1-Related)
- Deafness, autosomal recessive 3
- Desbuquois dysplasia 1
- Enhanced S-Cone Syndrome
- Hermansky-Pudlak syndrome (HPS4-related)
- Hypophosphatemic rickets with hypercalciuria
- Leber congenital amaurosis (and other TULP1-related retinopathies)
- Malonyl-CoA Decarboxylase Deficiency
- Mitochondrial complex I deficiency / Leigh syndrome (NDUFAF2-related)
- Peroxisome biogenesis disorder 7A and 7B
- Progressive Familial Intrahepatic Cholestasis, Type 2
- Rh deficiency syndrome
- Spinal muscular atrophy with respiratory distress 1 / Charcot-Marie-To
- Usher Syndrome, Type ID
- Andermann syndrome
- Choroideremia
- Ethylmalonic Encephalopathy
- Glycogen storage disease type II
- GRACILE syndrome
- Hypophosphatasia, autosomal recessive
- Medium chain acyl-CoA dehydrogenase deficiency
- PROP1-related combined pituitary hormone deficiency
- Very long chain acyl-CoA dehydrogenase deficiency
- Alstrom syndrome
- Dystrophinopathy (including Duchenne/Becker muscular dystrophy)
- LAMA2-related muscular dystrophy
- X-linked Alport syndrome
- X-linked myotubular myopathy
- Acute Infantile Liver Failure
- Adrenocorticotropic hormone deficiency
- Ataxia-Telangiectasia-Like Disorder (MRE11)
- Bardet-Biedl syndrome (TRIM32-related)
- Central Hypothyroidism and Testicular Enlargement
- Combined Oxidative Phosphorylation Deficiency 1
- Fanconi Anemia, Group G
- Glutaric Acidemia, Type IIb
- Glycogen Storage Disease, Type IV / Adult Polyglucosan Body Disease
- Hermansky-Pudlak Syndrome, Type 3
- Immunodeficiency 19
- Leber Congenital Amaurosis 2 / Retinitis pigmentosa 20
- Leigh syndrome (NDUFS7-related)
- Mental retardation, autosomal recessive 3
- Methylmalonic Aciduria and Homocystinuria, Cobalamin F Type
- Mitochondrial complex IV deficiency (SCO1-Related)
- Primary Ciliary Dyskinesia (DNAH5-Related)
- Retinitis Pigmentosa 25
- Retinitis pigmentosa 36
- SMN2 COPIES
- Thyroid Dyshormonogenesis 5
- Cohen syndrome
- Fragile X syndrome
- HMG-CoA Lyase Deficiency
- Hexosaminidase A deficiency (including Tay-Sachs disease)
- Joubert syndrome 2
- Segawa syndrome
- ATP7A-related disorders
- EVC-related Ellis-van Creveld syndrome
- Lysosomal acid lipase deficiency
- Peroxisome biogenesis disorder type 5
- Achalasia-addisonianism-alacrimia syndrome
- Aicardi-Gouti?res Syndrome (SAMHD1-Related)
- Aromatase Deficiency
- BH4-deficient Hyperphenylalaninemia D
- Choreoacanthocytosis
- Congenital Nongoitrous Hypothryoidism 4
- Distal Renal Tubular Acidosis / Spherocytosis, Type 4
- Fucosidosis
- Glycogen Storage Disease, Type VII
- Homocystinuria-Megaloblastic Anemia, Cobalamin G Type
- Intrahepatic cholestasis
- Mitochondrial complex IV deficiency (COX6B1-related)
- Mitochondrial DNA depletion syndrome 4A and 4B and other POLG-related
- Mucopolysaccharidosis type VI
- Myoneurogastrointestinal Encephalopathy
- Oculocutaneous albinism (TYR-related)
- Osteogenesis imperfecta, type XI
- Pontocerebellar Hypoplasia, Type 6
- Primary ciliary dyskinesia (RSPH9-related)
- Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis
- Thyroid Dyshormonogenesis 2A
- Nephrotic Syndrome (NPHS2-Related)
- Spinal muscular atrophy
- Bardet-Biedl syndrome, BBS1-related
- 21-hydroxylase deficient congenital adrenal hyperplasia
- ABCC8-related hyperinsulinism
- Biotinidase Deficiency
- Galactosemia
- Glycogen storage disease type III
- Inclusion body myopathy 2
- Maple syrup urine disease type 1B
- Megalencephalic leukoencephalopathy with subcortical cysts
- Niemann-Pick disease, SMPD1-associated
- Tyrosinemia type I
- Leigh syndrome, French-Canadian type
- Peroxisome biogenesis disorder type 3
- X-linked congenital adrenal hypoplasia
- Tay-Sachs Enzyme (panel part)
- Acyl-CoA Oxidase I Deficiency
- Bardet-Biedl syndrome (ARL6-related)
- Catecholaminergic polymorphic ventricular tachycardia
- Cerebral Creatine Deficiency Syndrome 1
- Combined Oxidative Phosphorylation Deficiency 3
- Congenital Myasthenic Syndrome (CHRNE-Related)
- Deafness, Autosomal Recessive 77
- Familial Hypercholesterolemia (LDLR-related)
- Glycogen Storage Disease, Type IXb
- HMG-CoA Synthase 2 Deficiency
- Infantile Cerebral and Cerebellar Atrophy
- Leber Congenital Amaurosis 5
- Methionine Adenosyltransferase I/III Deficiency
- Mitochondrial complex IV deficiency (APOPT1-related)
- Mitochondrial complex IV deficiency / Leigh Syndrome (COX10-related)
- Multiple congenital anomalies-hypotonia-seizures syndrome 1
- Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type
- Spastic tetraplegia, thin corpus callosum, and progressive microcephal
- Thyroid Dyshormonogenesis 3
- Thyroid Dyshormonogenesis 6
- Krabbe disease
- Primary carnitine deficiency
- Smith-Lemli-Opitz syndrome
- Calpainopathy
- FKRP-related disorders
- Mucolipidosis III gamma
- Mucopolysaccharidosis type IIIB
- Spondylothoracic dysostosis
- 2-methylbutyrylglycinuria
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC2-Related)
- Congenital Bile Acid Synthesis Defect (AKR1D1-Related)
- Congenital secretory chloride diarrhea 1
- Cystinuria (SLC3A1-related)
- Dyskeratosis congenita (X-linked)
- Ehlers-Danlos Syndrome, Type VIIC
- Generalized Thyrotropin-Releasing Hormone Resistance
- Hyperparathyroidism/hypocalcemia/type I hypocalciuric hypercalcemia/ps
- Hypomagnesemia 1
- Junctional epidermolysis bullosa (ITGA6-related)
- Mitochondrial Trifunctional Protein Deficiency (HADHB-Related)
- Nephronophthisis 2
- PLAA-related neurodevelopmental disorders
- Pontocerebellar hypoplasia, type 2A and type 4
- Progressive myoclonic epilepsy, type 1B
- Pulmonary surfactant dysfunction
- Schimke Immunoosseous Dysplasia
- Steel Syndrome
- Wiskott-Aldrich syndrome (WAS-related, X-linked)
- Holocarboxylase synthetase deficiency
- Junctional Epidermolysis Bullosa, LAMA3-related
- Methylmalonic Acidemia MMAB-related
- NEB-related nemaline myopathy
- Rhizomelic chondrodysplasia punctata type 1
- Autosomal recessive osteopetrosis type 1
- Congenital disorder of glycosylation type Ic
- EVC2-related Ellis-van Creveld syndrome
- Peroxisome biogenesis disorder type 6
- X-linked severe combined immunodeficiency
- Aicardi-Goutieres syndrome (RNASEH2C-related)
- Arthrogryposis, Mental Retardation, and Seizures (SLC35A3)
- Bartter Syndrome, Type 4A
- Bilateral Frontoparietal Polymicrogyria
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratode
- Chronic Granulomatous Disease (CYBA-related)
- Combined SAP Deficiency
- Congenital disorder of glycosylation, type Im
- Fundus albipunctatus (RDH5-related)
- Gray platelet syndrome
- Hydrocephalus (X-linked)
- Joubert syndrome (and other NPHP1-related ciliopathies)
- Leigh syndrome (SURF1-related)
- Methylmalonyl-CoA Epimerase Deficiency
- Mucopolysaccharidosis VII
- Oculocutaneous albinism (TYRP1-related)
- Primary ciliary dyskinesia (CCDC103-related)
- Primary coenzyme Q10 deficiency 7
- Pyruvate Dehydrogenase E1-Alpha Deficiency
- Retinitis Pigmentosa 59 (DHDDS)
- Severe combined immunodeficiency (JAK3-related)
- Telephone Genetic Counseling Summary
- Ataxia with vitamin E deficiency
- Carnitine palmitoyltransferase IA deficiency
- CLN8-related neuronal ceroid lipofuscinosis
- D-bifunctional protein deficiency
- Familial Mediterranean fever
- Hb beta chain-related hemoglobinopathy (including beta thalassemia and sickle cell disease)
- Propionic Acidemia, PCCA-Related
- Maple syrup urine disease type II
- CLN6-related neuronal ceroid lipofuscinosis
- GLB1-related disorders
- RTEL1-related disorders
- Agammaglobulinemia (X-linked)
- Bare Lymphocyte Syndrome, Type II
- Combined factor V and VIII deficiency
- Congenital ichthyosis 4A and 4B
- Deafness, autosomal recessive 59
- Factor IX Deficiency
- Glanzmann thrombasthenia (ITGA2B-related)
- Hemochromatosis, Type 3
- Leber Congenital Amaurosis 10 and Other CEP290-Related Ciliopathies
- Lethal congenital contracture syndrome 3
- MEDNIK syndrome
- Mitochondrial Complex I Deficiency (ACAD9-Related)
- Mitochondrial complex I deficiency / Leigh syndrome (NDUFS4-related)
- Mucopolysaccharidosis Type IIID
- Niemann-Pick Disease, Type C (NPC1-Related)
- Rhizomelic Chondrodysplasia Punctata, Type 3
- Spinocerebellar ataxia with axonal neuropathy 3
- Vitamin D-dependent rickets, type I
- GJB2-related DFNB1 nonsyndromic hearing loss and deafness
- Junctional Epidermolysis Bullosa, LAMC2-related
- Limb-girdle muscular dystrophy type 2E
- Mucopolysaccharidosis Type I
- Mucopolysaccharidosis type IIIA
- Alpha Thalassemia
- Cartilage-hair hypoplasia
- CLN3-related neuronal ceroid lipofuscinosis
- Factor XI deficiency
- Glycogen storage disease type V
- Pycnodysostosis
- TPP1-related neuronal ceroid lipofuscinosis
- Usher syndrome type 3
- 11-beta-hydroxylase-deficient congenital adrenal hyperplasia
- Dysferlinopathy
- KCNJ11-related familial hyperinsulinism
- Lipoid congenital adrenal hyperplasia
- Peroxisome biogenesis disorder type 4
- Acrodermatitis Enteropathica
- Adams-Oliver syndrome 4
- Congenital myasthenic syndrome (CHAT-related)
- Deafness, autosomal recessive 76
- Deafness, autosomal recessive 9 / Auditory neuropathy
- Familial hyperphosphatemic tumoral calcinosis
- Glycogen storage disease, Type 0
- Hermansky-Pudlak Syndrome, Type 1
- Immunodeficiency 18
- Infantile neuroaxonal dystrophy 1 and other PLA2G6-related disorders
- Mulibrey nanism
- Omenn Syndrome (RAG2-Related)
- Ornithine Aminotransferase Deficiency
- Primary ciliary dyskinesia (CCDC39-related)
- Primary Ciliary Dyskinesia (DNAI2-related)
- Retinitis Pigmentosa 28
- Sialidosis, type I and type II
- Thyroid Dyshormonogenesis 4
- Spastic paraplegia type 15
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC1-Related)
- Alpha-Thalassemia Mental Retardation Syndrome
- Bernard-Soulier Syndrome, Type C
- BH4-deficient Hyperphenylalaninemia C
- Charcot-Marie-Tooth Disease, Type 5 / Arts syndrome
- Chondrodysplasia punctata (X-linked)
- Congenital Bile Acid Synthesis Defect (HSD3B7-Related)
- Corneal Dystrophy and Perceptive Deafness
- Dystrophic Epidermolysis Bullosa
- Hemochromatosis, Type 2A
- Hypohidrotic Ectodermal Dysplasia 1
- Kohlschutter-Tonz syndrome
- Limb-girdle muscular dystrophy, type 2L
- Mitochondrial Complex I Deficiency (NDUFAF5-Related)
- Mitochondrial complex I deficiency / Leigh syndrome (FOXRED1-related)
- Mitochondrial DNA Depletion Syndrome 6 / Navajo Neurohepatopathy
- Molybdenum cofactor deficiency A
- Neurodegeneration due to Cerebral Folate Transport Deficiency
- Pontocerebellar Hypoplasia, Type 1A
- Stuve-Wiedemann Syndrome
- Alkaptonuria
- Ataxia-telangiectasia
- Canavan disease
- Cystinosis
- Glutathione Synthetase Deficiency
- Methylmalonic Aciduria and Homocystinuria Type cbIC
- PEX1-related Zellweger Syndrome Spectrum
- Sandhoff Disease
- Wilson disease
- Argininemia
- ERCC8-related disorders
- X-linked adrenoleukodystrophy
- Abetalipoproteinemia (MTTP)
- Antley-Bixler syndrome (POR-related)
- Congenital adrenal insufficiency (CYP11A1-related)
- Congenital Nongoitrous Hypothryoidism 1 / Nonautoimmune Hyperthyroidis
- Diaphanospondylodysostosis
- Fructose-1,6-Bisphosphatase Deficiency
- Gitelman Syndrome
- Glycogen storage disease, Type VI
- Homocystinuria, cblE Type
- Junctional epidermolysis bullosa (COL17A1-related)
- Leber Congenital Amaurosis 13
- Lethal congenital contracture syndrome 2
- Megaloblastic anemia 1
- Microphthalmia / Anophthalmia
- Mitochondrial complex IV deficiency (COX20-related)
- Mitochondrial DNA depletion syndrome 3
- Multiple Sulfatase Deficiency (SUMF1)
- Renal Tubular Acidosis and Deafness
- Severe congenital neutropenia 4
- Thyroid Dyshormonogenesis 1
- ARSACS
- Glycogen storage disease type Ib
- Homocystinuria caused by cystathionine beta-synthase deficiency
- Methylmalonic Acidemia MMAA-related
- Primary hyperoxaluria type 1
- Bardet-Biedl syndrome, BBS12-related
- COL4A4-related Alport syndrome
- Fabry disease
- GNPTAB-related disorders
- MYO7A-related disorders
- Tyrosinemia type II
- Asparagine Synthetase Deficiency
- Bartter syndrome, type 3
- Carnitine Acylcarnitine Translocase Deficiency
- Cerebral Creatine Deficiency Syndrome 3
- Chronic Granulomatous Disease (CYBB-related)
- Combined Pituitary Hormone Deficiency 3
- Congenital Myasthenic Syndrome (RAPSN-Related)
- Familial Autosomal Recessive Hypercholesterolemia
- Glutaric Acidemia, Type IIa
- Hereditary Spastic Paraparesis 49
- Hypoparathyroidism-retardation-dysmorphic syndrome
- Leber congenital amaurosis (and other GUCY2D-related ciliopathies)
- Lysinuric Protein Intolerance
- Nephrogenic Diabetes Insipidus (AVPR2-Related) / Nephrogenic Syndrome
- Papillon-Lefevre syndrome
- Progressive Cerebello-Cerebral Atrophy
- Pyridoxine-Dependent Epilepsy
- Retinitis pigmentosa 64 (and other C8orf37-related retinal dystrophies
- Severe Combined Immunodeficiency (IL7R-Related)
- Spherocytosis, Type 5
- Werner syndrome
- Nephrotic Syndrome (NPHS1-Related)
- Woodhouse-Sakati syndrome
