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Meet Voss
Active
Family Slot Donor

Voss has a clean-cut appearance with naturally handsome, approachable features. He has a youthful but mature look with symmetrical facial structure, an athletic, well-proportioned build, and an overall wholesome appearance that reflects his warm personality. His dirty blonde hair is styled in a neat, casual cut that frames an oval face with well-balanced features. His clear blue-green eyes convey kindness, complemented by a straight nose and naturally pleasant expression. He has fair skin that has healthy, neutral undertones. His tidy casual style mirrors his genuine, down-to-earth personality.Beyond his appealing physical features, Voss has an impressive character and a desire to help others. With a psychology degree and a naturally curious mind, he's someone who values both intellectual growth and hands-on learning, whether he's exploring neuroscience concepts, working on 3D printing projects, or expressing his creativity through drawing and sculpture. His "golden retriever" personality shines through in his loyalty to friends and his passion for meaningful relationships, particularly the strong marriage he considers the foundation of his life goals. An accomplished long-distance runner who has completed half marathons, he balances his love for physical challenges with quieter pursuits like playing piano and dreaming of travel adventures. His motivation for becoming a donor stems from his deep desire to support others and his understanding of how precious the gift of family truly is, approaching this opportunity with the same humility, resilience, and thoughtful consideration that guide all aspects of his life.
Eyes
Blue/Green
Hair
Blonde
Height
175 cm
Weight
90 kg
Blood
O Rh+
CMV
+
Ethnicity
Caucasian, English, German, Irish, Norwegian
Education/Occupation
B.A. Psychology / Technical Specialist
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
- Aspartylglycosaminuria
- Canavan disease
- CLN5-related neuronal ceroid lipofuscinosis
- Maple syrup urine disease type 1A
- Primary hyperoxaluria type 2
- Sulfate transporter-related osteochondrodysplasia (SLC26A2)
- MKS1-related disorders
- Pyruvate carboxylase deficiency
- USH1C-related disorders
- Xeroderma pigmentosum group C
- Carpenter Syndrome
- Citrin Deficiency
- Deafness, autosomal recessive 3
- Enhanced S-Cone Syndrome
- Gitelman Syndrome
- 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
- 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)
- Zellweger spectrum disorder (PEX16-related)
- Muscular dystrophy-dystroglycanopathy (POMT2)
- Adenosine Deaminase Deficiency
- Autosomal recessive polycystic kidney disease
- Congenital disorder of glycosylation type Ib
- GJB2-related DFNB1 nonsyndromic hearing loss and deafness
- Muscle-eye-brain disease
- 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
- Spastic paraplegia type 15
- 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
- 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)
- Ethylmalonic Encephalopathy
- Glycogen storage disease type II
- GRACILE syndrome
- Hypophosphatasia, autosomal recessive
- Medium chain acyl-CoA dehydrogenase deficiency
- PROP1-related combined pituitary hormone deficiency
- TPP1-related neuronal ceroid lipofuscinosis
- LAMA2-related muscular dystrophy
- Acute Infantile Liver Failure
- Ataxia-Telangiectasia-Like Disorder (MRE11)
- Bardet-Biedl syndrome (TRIM32-related)
- Combined Oxidative Phosphorylation Deficiency 1
- Congenital myasthenic syndrome (CHAT-related)
- Deafness, autosomal recessive 76
- 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
- Omenn Syndrome (RAG2-Related)
- Retinitis pigmentosa 36
- Hermansky-Pudlak syndrome type 8 (BLOC1S3)
- BRIP1-related conditions (BRIP1)
- Leukoencephalopathy with vanishing white matter (EIF2B3)
- Foveal hypoplasia (SLC38A8)
- Familial hemophagocytic lymphohistiocytosis type 4 (STX11)
- Cohen syndrome
- HMG-CoA Lyase Deficiency
- 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
- Cerebral Creatine Deficiency Syndrome 3
- Choreoacanthocytosis
- Congenital Nongoitrous Hypothryoidism 4
- Fucosidosis
- Glycogen Storage Disease, Type VII
- Homocystinuria-Megaloblastic Anemia, Cobalamin G Type
- Intrahepatic cholestasis
- Mucopolysaccharidosis type VI
- Oculocutaneous albinism (TYR-related)
- Osteogenesis imperfecta, type XI
- Pontocerebellar Hypoplasia, Type 6
- Pyridoxine-Dependent Epilepsy
- Severe Combined Immunodeficiency (IL7R-Related)
- Thyroid Dyshormonogenesis 2A
- Werner syndrome
- Nephrotic Syndrome (NPHS2-Related)
- TMEM67-related conditions
- BBS5-related conditions (BBS5)
- OSTM1 deficiency associated osteopetrosis (OSTM1)
- RLBP1-related conditions (RLBP1)
- Metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (TANGO2)
- 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
- Primary carnitine 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
- ERCC6-related disorders
- Leigh syndrome, French-Canadian type
- Peroxisome biogenesis disorder type 3
- 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)
- Mitochondrial complex IV deficiency (PET100-related)
- Dihydrolipoamide Dehydrogenase Deficiency
- Glycogen storage disease type Ia
- Isovaleric acidemia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- Metachromatic leukodystrophy
- NEB-related nemaline myopathy
- Propionic Acidemia, PCCB-Related
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- Autosomal recessive osteopetrosis type 1
- 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
- Pontocerebellar hypoplasia, type 2E
- Retinitis Pigmentosa 59 (DHDDS)
- Spondylocostal dysostosis 1
- Vitamin D-resistant rickets, type IIA
- Progressive familial intrahepatic cholestasis 3 (ABCB4)
- CC2D2A-related conditions (CC2D2A)
- Familial dysautonomia (ELP1)
- Achromatopsia
- Ataxia with vitamin E deficiency
- Bloom syndrome
- Costeff optic atrophy syndrome
- Junctional Epidermolysis Bullosa, LAMB3-related
- Methylmalonic Acidemia MUT-related
- Pendred syndrome
- Salla disease
- Walker-Warburg syndrome
- 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)
- Galactokinase deficiency
- 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
- Congenital secretory chloride diarrhea 1
- Geroderma osteodysplasticum
- Junctional epidermolysis bullosa (ITGB4-related)
- Leukoencephalopathy with vanishing white matter
- Mitochondrial complex I deficiency (NDUFV1-related)
- Mitochondrial Trifunctional Protein Deficiency (HADHB-Related)
- Nephronophthisis 2
- Pyridoxamine 5-Phosphate Oxidase Deficiency
- 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)
- Fanconi anemia type L (FANCL)
- Cardioencephalomyopathy (SCO2)
- Transcobalamin II deficiency (TCN2)
- Johanson-Blizzard syndrome (UBR1)
- MKKS-related conditions (MKKS)
- PGM3-congenital disorder of glycosylation (PGM3)
- Biotin-responsive basal ganglia disease (SLC19A3)
- Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24)
- Retinitis pigmentosa 36 (GNPAT)
- Gereditary hemochromatosis type 2 (HJV)
- MVK-related conditions (MVK)
- PLEKHG5-related conditions (PLEKHG5)
- SPG11-related conditions (SPG11)
- AMT-related glycine encephalopathy
- Hydrolethalus syndrome
- 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)
- 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
- MEDNIK syndrome
- 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)
- Spinal muscular atrophy
- Bardet-Biedl syndrome, BBS1-related
- 21-hydroxylase deficient congenital adrenal hyperplasia
- Krabbe disease
- MTHFR deficiency
- Phenylalanine hydroxylase deficiency
- ABCC8-related hyperinsulinism
- Galactosemia
- Holocarboxylase synthetase deficiency
- Junctional Epidermolysis Bullosa, LAMA3-related
- 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)
- Brittle cornea syndrome (PRDM5-related)
- GJB6-CRYL1 related nonsyndromic hearing loss
- Methylmalonic Acidemia MMAB-related
- Andermann syndrome
- Inclusion body myopathy 2
- Maple syrup urine disease type 1B
- Megalencephalic leukoencephalopathy with subcortical cysts
- Niemann-Pick disease, SMPD1-associated
- Rhizomelic chondrodysplasia punctata type 1
- Congenital disorder of glycosylation type Ic
- EVC2-related Ellis-van Creveld syndrome
- Niemann-Pick disease type C2
- 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)
- Combined SAP Deficiency
- Congenital Neutropenia (HAX1-Related)
- Desbuquois dysplasia 1
- Hermansky-Pudlak syndrome (HPS4-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)
- 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)
- Tyrosinemia type I
- Very long chain acyl-CoA dehydrogenase deficiency
- Alstrom syndrome
- 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
- Primary Ciliary Dyskinesia (DNAH5-Related)
- 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)
- Hexosaminidase A deficiency (including Tay-Sachs 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
- Smith-Lemli-Opitz syndrome
- Calpainopathy
- FKRP-related disorders
- Mucolipidosis III gamma
- Mucopolysaccharidosis type IIIB
- Spondylothoracic dysostosis
- Angelman syndrome
- Beta-Ketothiolase Deficiency
- Ehlers-Danlos Syndrome, Type VIIC
- Junctional epidermolysis bullosa (ITGA6-related)
- Laron dwarfism
- Aicardi-Goutieres Syndrome 4
- Progressive early-onset encepahlopathy with brain atrophy and thin corpus callosum (PEBAT) (TBCD)
- GJB6-CRYL1 related nonsyndromic hearing loss UK
- 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)
- Refsum disease (PHYH)
- Lipoprotein Lipase Deficiency
- Pontocerebellar hypoplasia, type 2A and type 4
- Pulmonary surfactant dysfunction
- Schimke Immunoosseous Dysplasia
- Steel Syndrome
- Xeroderma pigmentosum variant (POLH-related)
- Muscular dystrophy-dystroglycanopathy (LARGE1)
- OTOF-related conditions (OTOF)
- Microcephalic osteodysplastic primordial dwarfism type II (PCNT)
- SAMD9-related conditions (SAMD9)
- Atransferrinemia (TF)
- 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
- Myoneurogastrointestinal Encephalopathy
- 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)
- Bartter syndrome type 1 (SLC12A1)
- Familial hemophagocytic lymphohistiocytosis type 5 (STXBP2)
- Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 (VLDLR)
- Ataxia-telangiectasia
- Cystinosis
- Fanconi anemia type C
- Glutathione Synthetase Deficiency
- Hereditary fructose intolerance
- 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)
- Oculocutaneous albinism (SLC45A2-related)
- 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)
- 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)
- CD59-mediated hemolytic anemia
- Deafness, autosomal recessive 9 / Auditory neuropathy
- Familial hyperphosphatemic tumoral calcinosis
- Hermansky-Pudlak Syndrome, Type 1
- Cystic fibrosis
- Bardet-Biedl syndrome, BBS10-related
- Junctional Epidermolysis Bullosa, LAMC2-related
- Limb-girdle muscular dystrophy type 2E
- Mucopolysaccharidosis Type I
- Carbamoylphosphate synthetase I deficiency
- 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
- Roberts Syndrome
- 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)
- Aicardi-Goutieres Syndrome 2
- Immunodeficiency 18
- Infantile neuroaxonal dystrophy 1 and other PLA2G6-related disorders
- Leber Congenital Amaurosis 8 / Retinitis Pigmentosa 12 / Pigmented Par
- Methylmalonic Aciduria and Homocystinuria, Cobalamin D Type
- Ornithine Aminotransferase Deficiency
- Primary ciliary dyskinesia (CCDC39-related)
- Primary Ciliary Dyskinesia (DNAI2-related)
- Retinitis Pigmentosa 28
- Sialidosis, type I and type II
- 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)
- 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
- Primary hyperoxaluria type 3
- Tyrosinemia type II
- Asparagine Synthetase Deficiency
- Carnitine Acylcarnitine Translocase Deficiency
- Combined Pituitary Hormone Deficiency 3
- Congenital dyserythropoietic anemia type 2
- Congenital Myasthenic Syndrome (RAPSN-Related)
- Cytochrome c oxidase deficiency / Leigh syndrome (COX15-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
- Trichohepatoenteric syndrome 1
- 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)


