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Meet Spruce
Active
Family Slot Donor
Spruce stands tall at 5'11" with an athletic build that suggests he’s always on the move. A lefty with a flair for creativity, he sees the world through his captivating almond-shaped hazel eyes, which seem to hold so much curiosity behind them. His short brown hair complements his full eyebrows, adding to his charmingly approachable vibe. Whether he’s conquering a new hiking trail or sharing a laugh with friends, Spruce is always ready for an adventure—preferably one that involves a bit of playful banter!Spruce is a law enforcement officer with a heart of gold and a love for the great outdoors. When he's not keeping the peace, you’ll find him casting a line at his favorite fishing spot, where he swears the fish are just waiting to be caught. Family is his number one priority, and his bond with his brother is legendary—they’re basically a dynamic duo, minus the capes. Whether it’s a backyard BBQ or a camping trip, Spruce is all about making memories with the people who matter most
Eyes
Brown/Green
Hair
Brown
Height
180 cm
Weight
83 kg
Blood
B Rh+
CMV
-
Ethnicity
Caucasian, Italian, Mexican
Education/Occupation
Studied Fire Science and Technology / Deputy Sheriff
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 results not available.
Results with No Disease Causing Mutations
- Cystic fibrosis
- Bardet-Biedl syndrome, BBS10-related
- Congenital disorder of glycosylation type Ia
- Gaucher disease
- Limb-girdle muscular dystrophy type 2E
- Mucopolysaccharidosis Type I
- Carbamoylphosphate synthetase I deficiency
- Galactokinase deficiency
- BH4-deficient Hyperphenylalaninemia C
- Corneal Dystrophy and Perceptive Deafness
- Dystrophic Epidermolysis Bullosa
- Galactose Epimerase Deficiency
- Geroderma osteodysplasticum
- Mitochondrial Complex I Deficiency (NDUFAF5-Related)
- Mitochondrial complex I deficiency / Leigh syndrome (FOXRED1-related)
- Alpha Thalassemia
- Cartilage-hair hypoplasia
- CLN3-related neuronal ceroid lipofuscinosis
- Glycogen storage disease type V
- 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
- Combined Malonic and Methylmalonic Aciduria
- Congenital Insensitivity to Pain with Anhidrosis
- Ataxia-telangiectasia
- Fanconi anemia type C
- Hereditary fructose intolerance
- Isovaleric acidemia
- Metachromatic leukodystrophy
- PEX1-related Zellweger Syndrome Spectrum
- Propionic Acidemia, PCCB-Related
- 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
- ABCC8-related hyperinsulinism
- Biotinidase Deficiency
- Galactosemia
- Holocarboxylase synthetase deficiency
- Junctional Epidermolysis Bullosa, LAMA3-related
- Methylmalonic Acidemia MMAB-related
- Rhizomelic chondrodysplasia punctata type 1
- Congenital disorder of glycosylation type Ic
- Mucopolysaccharidosis Type IVa
- Multiple Sulfatase Deficiency (SUMF1)
- Oculocutaneous albinism (SLC45A2-related)
- Pontocerebellar hypoplasia, type 2E
- Renal Tubular Acidosis and Deafness
- Severe congenital neutropenia 4
- Spondylocostal dysostosis 1
- Thyroid Dyshormonogenesis 1
- Vitamin D-resistant rickets, type IIA
- 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)
- Sulfite oxidase deficiency (SUOX)
- Bardet-Biedl syndrome, BBS1-related
- 21-hydroxylase deficient congenital adrenal hyperplasia
- Krabbe disease
- MTHFR deficiency
- Muscle-eye-brain disease
- Phenylalanine hydroxylase deficiency
- Calpainopathy
- Mitochondrial DNA Depletion Syndrome 6 / Navajo Neurohepatopathy
- Molybdenum cofactor deficiency A
- Pontocerebellar Hypoplasia, Type 1A
- Progressive pseudorheumatoid dysplasia
- Pyridoxamine 5-Phosphate Oxidase Deficiency
- Roberts 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
- Transcobalamin II deficiency (TCN2)
- 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
- Methylmalonic Aciduria and Homocystinuria, Cobalamin D Type
- Mitochondrial complex IV deficiency (PET100-related)
- Andermann syndrome
- Ethylmalonic Encephalopathy
- Inclusion body myopathy 2
- Megalencephalic leukoencephalopathy with subcortical cysts
- Niemann-Pick disease, SMPD1-associated
- Tyrosinemia type I
- Very long chain acyl-CoA dehydrogenase deficiency
- Alstrom syndrome
- Mucopolysaccharidosis?type IX
- Ornithine Aminotransferase Deficiency
- Primary Ciliary Dyskinesia (DNAI2-related)
- Retinitis Pigmentosa 28
- Sialidosis, type I and type II
- Trimethylaminuria
- Osteogenesis imperfecta (BMP1)
- Alpha-N-acetylgalactosaminidase deficiency (NAGA)
- Glycogen storage disease type IXc (PHKG2)
- Muscular dystrophy-dystroglycanopathy (POMT1)
- Steroid 5-alpha-reductase deficiency (SRD5A2)
- LAMA2-related muscular dystrophy
- Catecholaminergic polymorphic ventricular tachycardia
- Niemann-Pick disease type C2
- Peroxisome biogenesis disorder type 6
- USH1C-related disorders
- Aicardi-Goutieres syndrome (RNASEH2C-related)
- Bartter Syndrome, Type 4A
- Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratode
- Combined SAP Deficiency
- Congenital Neutropenia (HAX1-Related)
- Desbuquois dysplasia 1
- Hermansky-Pudlak syndrome (HPS4-related)
- Joubert syndrome (and other NPHP1-related ciliopathies)
- Leber congenital amaurosis (and other TULP1-related retinopathies)
- 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)
- Hyper-IgM immunodeficiency (CD40)
- Congenital Chronic Diarrhea (DGAT1)
- Fraser syndrome (FRAS1)
- Hermansky-Pudlak syndrome type 5 (HPS5)
- Donnai-Barrow syndrome (LRP2)
- Chronic granulomatous disease (NCF2)
- Aicardi-Goutieres Syndrome 4
- Progressive early-onset encepahlopathy with brain atrophy and thin corpus callosum (PEBAT) (TBCD)
- Achromatopsia
- ARSACS
- Glycogen storage disease type Ib
- Homocystinuria caused by cystathionine beta-synthase deficiency
- Primary hyperoxaluria type 1
- Bardet-Biedl syndrome, BBS12-related
- MYO7A-related disorders
- Primary hyperoxaluria type 3
- Tyrosinemia type II
- Xeroderma pigmentosum group A
- Asparagine Synthetase Deficiency
- Carnitine Acylcarnitine Translocase Deficiency
- Congenital dyserythropoietic anemia type 2
- Cytochrome c oxidase deficiency / Leigh syndrome (COX15-related)
- Hereditary Spastic Paraparesis 49
- Hypoparathyroidism-retardation-dysmorphic syndrome
- Joubert Syndrome 7 / Meckel Syndrome 5 / COACH Syndrome
- Leber congenital amaurosis (and other GUCY2D-related ciliopathies)
- Lysinuric Protein Intolerance
- Carnitine palmitoyltransferase IA deficiency
- 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
- Segawa syndrome
- Maple syrup urine disease type II
- CLN6-related neuronal ceroid lipofuscinosis
- Papillon-Lefevre syndrome
- Progressive Cerebello-Cerebral Atrophy
- Trichohepatoenteric syndrome 1
- Bardet-Biedl syndrome (BBS9)
- Primary Ciliary Dyskinesia (DNAH11)
- Vici syndrome
- Fraser syndrome (FREM2)
- Geme oxygenase 1 deficiency (HMOX1)
- Retinitis pigmentosa 62 (MAK)
- Ichthyosis prematurity syndrome (SLC27A4)
- Brittle cornea syndrome (ZNF469)
- Combined Oxidative Phosphorylation Deficiency 3
- Congenital Myasthenic Syndrome (CHRNE-Related)
- Deafness, Autosomal Recessive 77
- Familial Hypercholesterolemia (LDLR-related)
- Fanconi Anemia, Group G
- Glutaric Acidemia, Type IIb
- Glycogen Storage Disease, Type IV / Adult Polyglucosan Body Disease
- Multiple congenital anomalies-hypotonia-seizures syndrome 1
- Omenn Syndrome / Severe Combined Immunodeficiency, Athabaskan-Type
- Primary Ciliary Dyskinesia (DNAH5-Related)
- Retinitis Pigmentosa 25
- 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)
- Foveal hypoplasia (SLC38A8)
- FKRP-related disorders
- Mucolipidosis III gamma
- Mucopolysaccharidosis type IIIB
- Spondylothoracic dysostosis
- Angelman syndrome
- Beta-Ketothiolase Deficiency
- Congenital Amegakaryocytic Thrombocytopenia (MPL)
- Ehlers-Danlos Syndrome, Type VIIC
- Junctional epidermolysis bullosa (ITGA6-related)
- Laron dwarfism
- Lipoprotein Lipase Deficiency
- Mitochondrial Complex I Deficiency (NDUFS6-Related)
- Mitochondrial Myopathy and Sideroblastic Anemia 1
- Pontocerebellar hypoplasia, type 2A and type 4
- Pulmonary surfactant dysfunction
- Schimke Immunoosseous Dysplasia
- Steel Syndrome
- Xeroderma pigmentosum variant (POLH-related)
- AHI1-related conditions (AHI1)
- Neuronal ceroid lipofuscinosis type 10 (CTSD)
- Microcephalic osteodysplastic primordial dwarfism type II (PCNT)
- SAMD9-related conditions (SAMD9)
- Atransferrinemia (TF)
- GLB1-related disorders
- RTEL1-related disorders
- Achalasia-addisonianism-alacrimia syndrome
- Aromatase Deficiency
- Bare Lymphocyte Syndrome, Type II
- Congenital ichthyosis 4A and 4B
- Hemochromatosis, Type 3
- Mitochondrial Complex I Deficiency (ACAD9-Related)
- Mitochondrial DNA depletion syndrome 4A and 4B and other POLG-related
- Myoneurogastrointestinal Encephalopathy
- Niemann-Pick Disease, Type C (NPC1-Related)
- Osteogenesis imperfecta, type XI
- Rhizomelic Chondrodysplasia Punctata, Type 3
- Thyroid Dyshormonogenesis 2A
- 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)
- Cerebellar ataxia, intellectual disability, and dysequilibrium syndrome 1 (VLDLR)
- Aspartylglycosaminuria
- Canavan disease
- CLN5-related neuronal ceroid lipofuscinosis
- Cystinosis
- Glutathione Synthetase Deficiency
- Maple syrup urine disease type 1A
- Methylmalonic Aciduria and Homocystinuria Type cbIC
- Primary hyperoxaluria type 2
- Sulfate transporter-related osteochondrodysplasia (SLC26A2)
- MKS1-related disorders
- Pyruvate carboxylase deficiency
- Xeroderma pigmentosum group C
- Carpenter Syndrome
- Citrin Deficiency
- Deafness, autosomal recessive 3
- Enhanced S-Cone Syndrome
- Gitelman Syndrome
- Junctional epidermolysis bullosa (COL17A1-related)
- Malonyl-CoA Decarboxylase Deficiency
- Microphthalmia / Anophthalmia
- Mitochondrial complex I deficiency / Leigh syndrome (NDUFAF2-related)
- Mitochondrial DNA depletion syndrome 3
- 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)
- Primary Microcephaly
- Zellweger spectrum disorder (PEX16-related)
- Muscular dystrophy-dystroglycanopathy (POMT2)
- Trichohepatoenteric syndrome (SKIV2L)
- Familial hemophagocytic lymphohistiocytosis type 3 (UNC13D)
- Adenosine Deaminase Deficiency
- Autosomal recessive polycystic kidney disease
- Congenital disorder of glycosylation type Ib
- GJB2-related DFNB1 nonsyndromic hearing loss and deafness
- Junctional Epidermolysis Bullosa, LAMC2-related
- 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 disorder of deglycosylation
- Corticosterone Methyloxidase Deficiency
- Ehlers-Danlos syndrome, type VI
- Galactosialidosis
- Hawkinsinuria / Tyrosinemia, type III
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
- Nephrogenic Diabetes Insipidus, Type II
- Neuronal Ceroid-Lipofuscinosis (MFSD8-Related)
- Pontocerebellar hypoplasia, type 1B
- Prolidase deficiency
- Salt and pepper developmental regression syndrome
- Stuve-Wiedemann Syndrome
- Woodhouse-Sakati syndrome
- 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)
- Glycogen storage disease type II
- GRACILE syndrome
- Hypophosphatasia, autosomal recessive
- Medium chain acyl-CoA dehydrogenase deficiency
- PROP1-related combined pituitary hormone deficiency
- Pycnodysostosis
- TPP1-related neuronal ceroid lipofuscinosis
- Usher syndrome type 3
- 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
- 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)
- Primary ciliary dyskinesia (CCDC39-related)
- Retinitis pigmentosa 36
- Hermansky-Pudlak syndrome type 8 (BLOC1S3)
- BRIP1-related conditions (BRIP1)
- Leukoencephalopathy with vanishing white matter (EIF2B3)
- Fraser syndrome (GRIP1)
- Molybdenum cofactor deficiency (MOCS2)
- Familial hemophagocytic lymphohistiocytosis type 4 (STX11)
- Cohen syndrome
- HMG-CoA Lyase Deficiency
- Joubert syndrome 2
- Methylmalonic Acidemia MMAA-related
- COL4A4-related Alport syndrome
- EVC-related Ellis-van Creveld syndrome
- GNPTAB-related disorders
- Lysosomal acid lipase deficiency
- Peroxisome biogenesis disorder type 5
- Aicardi-Gouti?res Syndrome (SAMHD1-Related)
- BH4-deficient Hyperphenylalaninemia D
- Cerebral Creatine Deficiency Syndrome 3
- Choreoacanthocytosis
- Combined Pituitary Hormone Deficiency 3
- Congenital Myasthenic Syndrome (RAPSN-Related)
- Congenital Nongoitrous Hypothryoidism 4
- Familial Autosomal Recessive Hypercholesterolemia
- Fucosidosis
- Glutaric Acidemia, Type IIa
- Glycogen Storage Disease, Type VII
- Homocystinuria-Megaloblastic Anemia, Cobalamin G Type
- Intrahepatic cholestasis
- Mucopolysaccharidosis type VI
- Oculocutaneous albinism (TYR-related)
- Pontocerebellar Hypoplasia, Type 6
- Pyridoxine-Dependent Epilepsy
- Severe Combined Immunodeficiency (IL7R-Related)
- Werner syndrome
- Nephrotic Syndrome (NPHS2-Related)
- TMEM67-related conditions
- Dubin-Johnson syndrome (ABCC2)
- BBS5-related conditions (BBS5)
- Congenital hydrocephalus-1 (CCDC88C)
- PJVK-related conditions (DFNB59 aka PJVK)
- OSTM1 deficiency associated osteopetrosis (OSTM1)
- RLBP1-related conditions (RLBP1)
- Metabolic crises with rhabdomyolysis, cardiac arrhythmias and neurodegeneration (TANGO2)
- Alpha-Mannosidosis
- Argininosuccinic Aciduria
- Carnitine palmitoyltransferase II deficiency
- Citrullinemia type 1
- Glycogen storage disease type III
- Maple syrup urine disease type 1B
- Nijmegen breakage syndrome
- Usher syndrome type 1F
- Delta-sarcoglycanopathy
- ERCC6-related disorders
- Leigh syndrome, French-Canadian type
- Peroxisome biogenesis disorder type 3
- Acyl-CoA Oxidase I Deficiency
- Bardet-Biedl syndrome (ARL6-related)
- Combined Pituitary Hormone Deficiency 1
- 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)
- Infantile Cerebral and Cerebellar Atrophy
- Leber Congenital Amaurosis 5
- 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
- Spastic tetraplegia, thin corpus callosum, and progressive microcephal
- Thyroid Dyshormonogenesis 3
- Thyroid Dyshormonogenesis 6
- Dihydrolipoamide Dehydrogenase Deficiency
- Glycogen storage disease type Ia
- Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
- NEB-related nemaline myopathy
- 6-pyruvoyl-tetrahydropterin synthase deficiency
- Autosomal recessive osteopetrosis type 1
- COL4A3-related Alport syndrome
- EVC2-related Ellis-van Creveld syndrome
- GLDC-related glycine encephalopathy
- Mucopolysaccharidosis type IIIC
- Arthrogryposis, Mental Retardation, and Seizures (SLC35A3)
- Cerebral Creatine Deficiency Syndrome 2
- Chronic Granulomatous Disease (CYBA-related)
- 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
- Retinitis Pigmentosa 59 (DHDDS)
- Progressive familial intrahepatic cholestasis 3 (ABCB4)
- Bardet-Biedl syndrome (BBS7)
- CC2D2A-related conditions (CC2D2A)
- Familial dysautonomia (ELP1)
- Glutaric acidemia type 1
- Limb-girdle muscular dystrophy type 2D
- Mucolipidosis IV
- Polyglandular autoimmune syndrome type 1
- Primary carnitine deficiency
- Smith-Lemli-Opitz syndrome
- 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
- Junctional epidermolysis bullosa (ITGB4-related)
- Leukoencephalopathy with vanishing white matter
- Mitochondrial complex I deficiency (NDUFV1-related)
- Mitochondrial Trifunctional Protein Deficiency (HADHB-Related)
- Nephronophthisis 2
- 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)
- Muscular dystrophy-dystroglycanopathy (LARGE1)
- OTOF-related conditions (OTOF)
- Cardioencephalomyopathy (SCO2)
- Johanson-Blizzard syndrome (UBR1)
- Leukoencephalopathy with vanishing white matter (EIF2B1)
- Retinitis pigmentosa 36 (GNPAT)
- Gereditary hemochromatosis type 2 (HJV)
- MVK-related conditions (MVK)
- MKKS-related conditions (MKKS)
- PGM3-congenital disorder of glycosylation (PGM3)
- Biotin-responsive basal ganglia disease (SLC19A3)
- Immunodeficiency-centromeric instability-facial anomalies syndrome 2 (ZBTB24)
- Ataxia with vitamin E deficiency
- Bloom syndrome
- CLN8-related neuronal ceroid lipofuscinosis
- 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
- USH2A-related disorders
- 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH)
- Charcot-Marie-Tooth Disease, Type 4D
- Congenital Adrenal Hyperplasia due to 17-Alpha-Hydroxylase Deficiency
- Congenital Neutropenia (VPS45-Related)
- 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 complex I deficiency / Leigh syndrome (NDUFS4-related)
- Mitochondrial DNA depletion syndrome 2
- Mucopolysaccharidosis Type IIID
- Pyruvate Dehydrogenase E1-Beta Deficiency
- Severe combined immunodeficiency (PTPRC-related)
- Thiamine-responsive megaloblastic anemia syndrome
- Myotonia congenita (CLCN1)
- Fanconi anemia type D2 (FANCD2)
- 17-beta hydroxysteroid dehydrogenase 3 deficiency (HSD17B3)
- PLEKHG5-related conditions (PLEKHG5)
- SPG11-related conditions (SPG11)
- NSMCE3 deficiency (NSMCE3)
- Zellweger spectrum disorder (PEX13-related)
- Brittle cornea syndrome (PRDM5-related)
- Familial hemophagocytic lymphohistiocytosis type 5 (STXBP2)
