
Family Slots

Family Slots
€250.00
0 Available Slots
0 Used Slots
0 Reported Pregnancies or Births
Purchase Vials

IUI Units
€995.00
8 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 Rhine
Active
Family Slot Donor

Rhine has a warm, inviting smile that lights up his oval face. His well-groomed full beard, defined cheekbones, and straight nose give him a handsome, masculine appearance. His expressive brown eyes are framed by thick, dark eyebrows, and curly brown hair crowns his head. With very fair skin that has cool undertones, his contrasting features are striking. At 6'2" and with a solid, strong build from weightlifting and past sports, it is apparent that he is athletic.Rhine holds a bachelor's degree in exercise science and has strong academic skills. He is good at advanced math, including calculus, basic mechanical tasks, and athletics. He was a collegiate baseball pitcher and still enjoys playing golf. He speaks English and knows American Sign Language, loves cooking, and prefers dogs as his animal companions. While he may be shy at first, he becomes outgoing once he feels comfortable. He is determined, caring, and always cheers for others' success. This attitude is shaped by a close-knit family that instilled strong values and life lessons. Rhine donates to help those eager to start families of their own.
Eyes
Brown
Hair
Brown
Height
188 cm
Weight
95 kg
Blood
A Rh-
CMV
-
Ethnicity
American, Caucasian, French Canadian, German, Irish
Education/Occupation
B.S. Exercise Science / Grocery Store Manager
Live Birth/Pregnancy Confirmed
No
Genetic Carrier Screening Panel Completed by Donor
Invitae 514 Panel
Carrier Screening Results Positive For
No disease causing mutations detected
Karyotype Result
Karyotyping: 46, XY
Results with No Disease Causing Mutations
- Adenosine Deaminase Deficiency
- Autosomal recessive polycystic kidney disease
- Congenital disorder of glycosylation type Ib
- GJB2-related DFNB1 nonsyndromic hearing loss and deafness
- Aspartylglycosaminuria
- CLN5-related neuronal ceroid lipofuscinosis
- Maple syrup urine disease type 1A
- 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
- Deafness, autosomal recessive 3
- Desbuquois dysplasia 1
- Enhanced S-Cone Syndrome
- Gitelman Syndrome
- Hermansky-Pudlak syndrome (HPS4-related)
- Junctional epidermolysis bullosa (COL17A1-related)
- 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
- Ethylmalonic Encephalopathy
- Glycogen storage disease type II
- 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
- Mucopolysaccharidosis type IIIA
- Beta-Ketothiolase Deficiency
- GRACILE syndrome
- Hypophosphatasia, autosomal recessive
- Medium chain acyl-CoA dehydrogenase deficiency
- PROP1-related combined pituitary hormone deficiency
- TPP1-related neuronal ceroid lipofuscinosis
- Alstrom syndrome
- LAMA2-related muscular dystrophy
- Acute Infantile Liver Failure
- Ataxia-Telangiectasia-Like Disorder (MRE11)
- Bardet-Biedl syndrome (TRIM32-related)
- 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
- 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
- AHI1-related conditions (AHI1)
- Neuronal ceroid lipofuscinosis type 10 (CTSD)
- Fanconi anemia type I (FANCI)
- Severe combined immunodeficiency due to FOXN1 deficiency (FOXN1)
- Bartter syndrome type 2 (KCNJ1)
- LRAT-related conditions (LRAT)
- Pantothenate kinase-associated neurodegeneration (PANK2)
- Muscular dystrophy-dystroglycanopathy (RXYLT1)
- Dyskeratosis congenita spectrum disorders (TERT)
- Combined Oxidative Phosphorylation Deficiency 1
- Congenital myasthenic syndrome (CHAT-related)
- Fanconi Anemia, Group G
- 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
- Mulibrey nanism
- Retinitis pigmentosa 36
- Hermansky-Pudlak syndrome type 8 (BLOC1S3)
- BRIP1-related conditions (BRIP1)
- Refsum disease (PHYH)
- Foveal hypoplasia (SLC38A8)
- Familial hemophagocytic lymphohistiocytosis type 4 (STX11)
- Progressive Familial Intrahepatic Cholestasis, Type 2
- Spinal muscular atrophy with respiratory distress 1 / Charcot-Marie-To
- Usher Syndrome, Type ID
- RYR1-related diseases
- Immunodeficiency-centromeric instability-facial anomalies syndrome 1 (DNMT3B)
- GCH1-related conditions (GCH1)
- Hermansky-Pudlak syndrome type 5 (HPS5)
- Primary Microcephaly
- Chronic granulomatous disease (NCF2)
- Muscular dystrophy-dystroglycanopathy (POMT2)
- Cohen syndrome
- HMG-CoA Lyase Deficiency
- Hexosaminidase A deficiency (including Tay-Sachs disease)
- Joubert syndrome 2
- Methylmalonic Acidemia MMAA-related
- Segawa syndrome
- 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
- Fucosidosis
- Glycogen Storage Disease, Type VII
- Homocystinuria-Megaloblastic Anemia, Cobalamin G Type
- Intrahepatic cholestasis
- Mucopolysaccharidosis type VI
- Myoneurogastrointestinal Encephalopathy
- Oculocutaneous albinism (TYR-related)
- Osteogenesis imperfecta, type XI
- Pontocerebellar Hypoplasia, Type 6
- Pyridoxine-Dependent Epilepsy
- Thyroid Dyshormonogenesis 2A
- Werner syndrome
- Nephrotic Syndrome (NPHS2-Related)
- BBS5-related conditions (BBS5)
- OSTM1 deficiency associated osteopetrosis (OSTM1)
- RLBP1-related conditions (RLBP1)
- Metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (TANGO2)
- 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
- Carbamoylphosphate synthetase I deficiency
- Galactokinase deficiency
- Alpha-Mannosidosis
- Argininosuccinic Aciduria
- Carnitine palmitoyltransferase II deficiency
- Citrullinemia type 1
- Glycogen storage disease type III
- Nijmegen breakage syndrome
- Usher syndrome type 1F
- Delta-sarcoglycanopathy
- Dihydrolipoamide Dehydrogenase Deficiency
- Glycogen storage disease type Ia
- Hereditary fructose intolerance
- Isovaleric acidemia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Metachromatic leukodystrophy
- NEB-related nemaline myopathy
- Propionic Acidemia, PCCB-Related
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- COL4A3-related Alport syndrome
- GLDC-related glycine encephalopathy
- Mucopolysaccharidosis type IIIC
- Arthrogryposis, Mental Retardation, and Seizures (SLC35A3)
- Cerebral Creatine Deficiency Syndrome 2
- Deafness, autosomal recessive 7 / Deafness, autosomal dominant 36
- Glanzmann thrombasthenia (ITGB3-related)
- Hereditary leiomyomatosis and renal cell cancer / fumarase deficiency
- Leber congenital amaurosis (and other AIPL1-related ciliopathies)
- N-Acetylglutamate Synthase Deficiency
- Oculocutaneous albinism (SLC45A2-related)
- Pontocerebellar hypoplasia, type 2E
- Spondylocostal dysostosis 1
- Vitamin D-resistant rickets, type IIA
- Progressive familial intrahepatic cholestasis 3 (ABCB4)
- CC2D2A-related conditions (CC2D2A)
- Familial dysautonomia (ELP1)
- MKKS-related conditions (MKKS)
- PGM3-congenital disorder of glycosylation (PGM3)
- Biotin-responsive basal ganglia disease (SLC19A3)
- Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24)
- 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
- Beta-mannosidosis
- Chediak-Higashi syndrome
- Geroderma osteodysplasticum
- Junctional epidermolysis bullosa (ITGB4-related)
- Leukoencephalopathy with vanishing white matter
- Mitochondrial complex I deficiency (NDUFV1-related)
- Mitochondrial Trifunctional Protein Deficiency (HADHB-Related)
- Pyridoxamine 5-Phosphate Oxidase Deficiency
- Roberts Syndrome
- Sepiapterin Reductase Deficiency
- Stickler syndrome (and other COL11A2 related deafness disorders)
- Wolcott-Rallison syndrome
- ABCA4-related conditions
- Polymicrogyria (ADGRG1)
- Congenital disorder of glycosylation type Ik (ALG1)
- CYP7B1-related conditions (CYP7B1)
- Aicardi-Goutieres Syndrome 2
- Cardioencephalomyopathy (SCO2)
- Transcobalamin II deficiency (TCN2)
- Johanson-Blizzard syndrome (UBR1)
- ERCC6-related disorders
- Leigh syndrome, French-Canadian type
- CD59-mediated hemolytic anemia
- 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
- Glycogen Storage Disease, Type IXb
- Hermansky-Pudlak syndrome (HPS6-related)
- 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
- Thyroid Dyshormonogenesis 3
- Trimethylaminuria
- Osteogenesis imperfecta (BMP1)
- Leukoencephalopathy with vanishing white matter (EIF2B1)
- Retinitis pigmentosa 36 (GNPAT)
- Gereditary hemochromatosis type 2 (HJV)
- MVK-related conditions (MVK)
- PLEKHG5-related conditions (PLEKHG5)
- SPG11-related conditions (SPG11)
- 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
- 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 Neutropenia (VPS45-Related)
- Cytochrome c oxidase deficiency / Leigh syndrome (COX15-related)
- Joubert Syndrome 7 / Meckel Syndrome 5 / COACH Syndrome
- Leber Congenital Amaurosis 10 and Other CEP290-Related Ciliopathies
- Lethal Congenital Contracture Syndrome 1 / Lethal Arthrogryposis with
- Microcephaly 9, primary, AR / Seckel syndrome 5 (CEP152-related)
- Mitochondrial DNA depletion syndrome 2
- Pyruvate Dehydrogenase E1-Beta Deficiency
- Severe combined immunodeficiency (PTPRC-related)
- Thiamine-responsive megaloblastic anemia syndrome
- Myotonia congenita (CLCN1)
- Fanconi anemia type D2 (FANCD2)
- Fraser syndrome (FREM2)
- 17-beta hydroxysteroid dehydrogenase 3 deficiency (HSD17B3)
- Retinitis pigmentosa 62 (MAK)
- NSMCE3 deficiency (NSMCE3)
- Zellweger spectrum disorder (PEX13-related)
- GJB6-CRYL1 related nonsyndromic hearing loss
- ABCC8-related hyperinsulinism
- Galactosemia
- Holocarboxylase synthetase deficiency
- Junctional Epidermolysis Bullosa, LAMA3-related
- Methylmalonic Acidemia MMAB-related
- 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
- Aicardi-Goutieres syndrome (RNASEH2C-related)
- Bartter Syndrome, Type 4A
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratode
- Chronic Granulomatous Disease (CYBA-related)
- Andermann syndrome
- Inclusion body myopathy 2
- Maple syrup urine disease type 1B
- Megalencephalic leukoencephalopathy with subcortical cysts
- Niemann-Pick disease, SMPD1-associated
- Tyrosinemia type I
- Very long chain acyl-CoA dehydrogenase deficiency
- Peroxisome biogenesis disorder type 3
- Acyl-CoA Oxidase I Deficiency
- Bardet-Biedl syndrome (ARL6-related)
- Catecholaminergic polymorphic ventricular tachycardia
- Combined Oxidative Phosphorylation Deficiency 3
- Congenital Myasthenic Syndrome (CHRNE-Related)
- Deafness, Autosomal Recessive 77
- Familial Hypercholesterolemia (LDLR-related)
- Glutaric Acidemia, Type IIb
- Infantile Cerebral and Cerebellar Atrophy
- Leber Congenital Amaurosis 5
- Multiple congenital anomalies-hypotonia-seizures syndrome 1
- Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type
- Combined SAP Deficiency
- Congenital Neutropenia (HAX1-Related)
- 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)
- Retinitis Pigmentosa 59 (DHDDS)
- Severe combined immunodeficiency (JAK3-related)
- Isolated ectopia lentis (ADAMTSL4)
- Bardet-Biedl syndrome (BBS7)
- Hyper-IgM immunodeficiency (CD40)
- Congenital Chronic Diarrhea (DGAT1)
- Fraser syndrome (FRAS1)
- Donnai-Barrow syndrome (LRP2)
- Aicardi-Goutieres Syndrome 4
- Progressive early-onset encepahlopathy with brain atrophy and thin corpus callosum (PEBAT) (TBCD)
- GJB6-CRYL1 related nonsyndromic hearing loss UK
- Spinal muscular atrophy
- Bardet-Biedl syndrome, BBS1-related
- 21-hydroxylase deficient congenital adrenal hyperplasia
- Krabbe disease
- MTHFR deficiency
- Primary carnitine deficiency
- Smith-Lemli-Opitz syndrome
- Calpainopathy
- FKRP-related disorders
- Mucolipidosis III gamma
- Mucopolysaccharidosis type IIIB
- Spondylothoracic dysostosis
- Angelman syndrome
- Congenital secretory chloride diarrhea 1
- Ehlers-Danlos Syndrome, Type VIIC
- Junctional epidermolysis bullosa (ITGA6-related)
- Laron dwarfism
- Nephronophthisis 2
- Primary Ciliary Dyskinesia (DNAH5-Related)
- Retinitis Pigmentosa 25
- Spastic tetraplegia, thin corpus callosum, and progressive microcephal
- Thyroid Dyshormonogenesis 6
- Hermansky-Pudlak syndrome type 9 (BLOC1S6)
- Developmental and epileptic encephalopathy (CAD)
- DYNC2H1-related conditions (DYNC2H1)
- Leukoencephalopathy with vanishing white matter (EIF2B4)
- Gereditary hemochromatosis type 2 (HAMP)
- MUSK-related conditions (MUSK)
- Pontocerebellar hypoplasia, type 2A and type 4
- Pulmonary surfactant dysfunction
- Schimke Immunoosseous Dysplasia
- Steel Syndrome
- Xeroderma pigmentosum variant (POLH-related)
- Fanconi anemia type L (FANCL)
- Muscular dystrophy-dystroglycanopathy (LARGE1)
- OTOF-related conditions (OTOF)
- Microcephalic osteodysplastic primordial dwarfism type II (PCNT)
- SAMD9-related conditions (SAMD9)
- Atransferrinemia (TF)
- Ataxia with vitamin E deficiency
- Carnitine palmitoyltransferase IA deficiency
- CLN8-related neuronal ceroid lipofuscinosis
- D-bifunctional protein deficiency
- 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
- Bare Lymphocyte Syndrome, Type II
- Congenital ichthyosis 4A and 4B
- Deafness, autosomal recessive 59
- Hemochromatosis, Type 3
- MEDNIK syndrome
- Mitochondrial Complex I Deficiency (ACAD9-Related)
- Mitochondrial complex I deficiency / Leigh syndrome (NDUFS4-related)
- Mitochondrial DNA depletion syndrome 4A and 4B and other POLG-related
- Mucopolysaccharidosis Type IIID
- Niemann-Pick Disease, Type C (NPC1-Related)
- Rhizomelic Chondrodysplasia Punctata, Type 3
- Vitamin D-dependent rickets, type I
- GDF5-related conditions (GDF5)
- Childhood-onset dystonia with optic atrophy and basal ganglia abnormalities (MECR)
- PEX5-related conditions (PEX5)
- Brittle cornea syndrome (PRDM5-related)
- Bartter syndrome type 1 (SLC12A1)
- Familial hemophagocytic lymphohistiocytosis type 5 (STXBP2)
- Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 (VLDLR)
- Ataxia-telangiectasia
- Canavan disease
- Cystinosis
- Fanconi anemia type C
- Glutathione Synthetase Deficiency
- Methylmalonic Aciduria and Homocystinuria Type cbIC
- PEX1-related Zellweger Syndrome Spectrum
- Sandhoff Disease
- Wilson disease
- Argininemia
- ERCC8-related disorders
- Abetalipoproteinemia (MTTP)
- Antley-Bixler syndrome (POR-related)
- Congenital adrenal insufficiency (CYP11A1-related)
- Congenital Nongoitrous Hypothryoidism 1 / Nonautoimmune Hyperthyroidis
- Fructose-1,6-Bisphosphatase Deficiency
- Homocystinuria, cblE Type
- Leber Congenital Amaurosis 13
- Megaloblastic anemia 1
- Microphthalmia / Anophthalmia
- Mitochondrial DNA depletion syndrome 3
- Mucopolysaccharidosis Type IVa
- Multiple Sulfatase Deficiency (SUMF1)
- Renal Tubular Acidosis and Deafness
- Severe congenital neutropenia 4
- Thyroid Dyshormonogenesis 1
- Nephrotic Syndrome (NPHS1-Related)
- Spinocerebellar ataxia (ANO10)
- Combined immunodeficiency due to IKBKB deficiency (IKBKB)
- Oculocutaneous albinism type 2 OCA2)
- Zellweger spectrum disorder (PEX16-related)
- Familial hemophagocytic lymphohistiocytosis type 2 (PRF1)
- Trichohepatoenteric syndrome (SKIV2L)
- Sulfite oxidase deficiency (SUOX)
- Familial hemophagocytic lymphohistiocytosis type 3 (UNC13D)
- Alpha Thalassemia
- Cartilage-hair hypoplasia
- CLN3-related neuronal ceroid lipofuscinosis
- Glycogen storage disease type V
- Pycnodysostosis
- 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
- Bardet-Biedl syndrome (BBS4-related)
- Deafness, autosomal recessive 76
- Deafness, autosomal recessive 9 / Auditory neuropathy
- Familial hyperphosphatemic tumoral calcinosis
- Hermansky-Pudlak Syndrome, Type 1
- Immunodeficiency 18
- Infantile neuroaxonal dystrophy 1 and other PLA2G6-related disorders
- Leber Congenital Amaurosis 8 / Retinitis Pigmentosa 12 / Pigmented Par
- 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
- Leukoencephalopathy with vanishing white matter (EIF2B3)
- Fraser syndrome (GRIP1)
- Molybdenum cofactor deficiency (MOCS2)
- Alpha-N-acetylgalactosaminidase deficiency (NAGA)
- Glycogen storage disease type IXc (PHKG2)
- Muscular dystrophy-dystroglycanopathy (POMT1)
- Steroid 5-alpha-reductase deficiency (SRD5A2)
- Cystic fibrosis
- Junctional Epidermolysis Bullosa, LAMC2-related
- Limb-girdle muscular dystrophy type 2E
- Mucopolysaccharidosis Type I
- Spastic paraplegia type 15
- BH4-deficient Hyperphenylalaninemia C
- Corneal Dystrophy and Perceptive Deafness
- Dystrophic Epidermolysis Bullosa
- Galactose Epimerase Deficiency
- 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
- Pontocerebellar Hypoplasia, Type 1A
- Progressive pseudorheumatoid dysplasia
- Stuve-Wiedemann Syndrome
- Woodhouse-Sakati syndrome
- ADGRV1-related conditions (ADGRV1)
- Osteogenesis imperfecta (CRTAP)
- Warsaw syndrome
- Fanconi anemia type E (FANCE)
- Parkinson disease 15 (FBXO7)
- LIG4 syndrome (LIG4)
- Osteogenesis imperfecta (P3H1)
- ARSACS
- Glycogen storage disease type Ib
- Homocystinuria caused by cystathionine beta-synthase deficiency
- Primary hyperoxaluria type 1
- Bardet-Biedl syndrome, BBS12-related
- COL4A4-related Alport syndrome
- GNPTAB-related disorders
- MYO7A-related disorders
- Tyrosinemia type II
- Asparagine Synthetase Deficiency
- Carnitine Acylcarnitine Translocase Deficiency
- Cerebral Creatine Deficiency Syndrome 3
- Combined Pituitary Hormone Deficiency 3
- Congenital dyserythropoietic anemia type 2
- 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
- Papillon-Lefevre syndrome
- Progressive Cerebello-Cerebral Atrophy
- Severe Combined Immunodeficiency (IL7R-Related)
- Trichohepatoenteric syndrome 1
- TMEM67-related conditions
- Dubin-Johnson syndrome (ABCC2)
- Bardet-Biedl syndrome (BBS9)
- Congenital hydrocephalus-1 (CCDC88C)
- Primary Ciliary Dyskinesia (DNAH11)
- Vici syndrome
- Geme oxygenase 1 deficiency (HMOX1)
- Ichthyosis prematurity syndrome (SLC27A4)
- Brittle cornea syndrome (ZNF469)


