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Meet Dumar
Active
Family Slot Donor

Meet Dumar! Standing at 178 cm with a graceful, well-proportioned build, he carries himself with natural poise. His close-shaven head highlights his facial features, drawing attention to his warm, hooded brown eyes. His fair skin has a healthy glow, complemented by a slightly crooked yet distinguished pointed nose and thin lips that form a wide, inviting smile.
Intellectually, Dumar excels as a sharp, analytical thinker who thrives in finance, where he has a natural aptitude for numbers and patterns. His discipline and dedication extend beyond his professional life, evidenced by his brown belt in Kung Fu—a testament to his perseverance and mind-body mastery.
Dumar enjoys camping as a way to connect with nature and challenge himself outside urban environments. His creative talents are equally impressive, as he plays multiple instruments—drums, violin, and guitar—and possesses a strong singing voice.
Eyes
Brown
Hair
Brown
Height
178 cm
Weight
77 kg
Blood
O Rh+
CMV
-
Ethnicity
Austrian, Caucasian, English, French, Northern European
Education/Occupation
B.S. in Business / Team Admin
Live Birth/Pregnancy Confirmed
Yes
Genetic Carrier Screening Panel Completed by Donor
Invitae 514 Panel
Medical Update Letters
Carrier Screening Results Positive For
No disease causing mutations detected
Karyotype Result
Karyotyping: 46,XY
Results with No Disease Causing Mutations
- 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
- Biotinidase Deficiency
- Bloom syndrome
- Canavan disease
- Carnitine palmitoyltransferase IA deficiency
- Carnitine palmitoyltransferase II 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
- GNPTAB-related disorders
- 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 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
- 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
- Hypomyelinating leukodystrophy-12
- 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
- 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
- PJVK-related conditions (DFNB59 aka PJVK)
- 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
- 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)
- Gereditary hemochromatosis type 2 (HAMP)
- Gereditary 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)


