Meet Ephriam (12900)
Ephriam is a fantastic addition to our donor program. At 6ft tall, he has a slender build, which he maintains with athletics, such as soccer. He has a fair complexion, compliments of his Romanian roots. He has genuinely kind almond shape brown-green eyes that stand in contrast to his medium brown short hair. Ephriam has a round face, accentuated by high cheekbones, full lips and pleasant smile.
Ephriam has obtained a degree in computer science and plans to pursue a career as a software engineer. As an immigrant to this country, he prides himself on defying adversity with dedication and kindness. He strives to mirror the motivation and fortitude that his parents showed him growing up. He credits his mother with showing him where hard work can take you and his father for his compassion and empathy. Ephraim is an old soul and is a lovely choice for anyone searching for their special donor.
Brown/Green
Brown
6'00"
185
B Rh-
+
Caucasian, Romanian
No
B.S. Computer Science / Student
No
Sema4 Elements 502 Panel
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- This donor can only be distributed to Monash IVF QLD. Please contact the clinic to see about availability and to place an order.
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Brisbane
Level 1, 55 Little Edward Street
Leichhardt Court
Spring Hill, QLD 4000
Gold Coast
Level 1
7 Short Street
Southport
Rockhampton/Townsville
293 Campbell Street
Rockhampton
Sunshine Coast/Bundaberg
Fertility Solutions
23 Elsa Wilson Drive
Buderim
(07 5478 2482)07 3232 7088
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- 21-hydroxylase Deficient Congenital Adrenal Hyperplasia : Carrier
- Medium Chain Acyl-CoA Dehydrogenase Deficiency : Carrier
- Bartter Syndrome, Type 3 : Carrier
- Limb-girdle Muscular Dystrophy, Type 2L : Carrier
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- Spinal Muscular Atrophy : No disease causing mutations detected
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- Karyotyping
- Cystic Fibrosis
- Adenosine Deaminase Deficiency
- ABCC8-related Hyperinsulinism
- Achromatopsia
- Alkaptonuria
- 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
- Choroideremia
- Citrullinemia Type 1
- CLN3-related Neuronal Ceroid Lipofuscinosis
- CLN5-related Neuronal Ceroid Lipofuscinosis
- CLN8-related Neuronal Ceroid Lipofuscinosis
- Cohen Syndrome
- 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
- Factor XI Deficiency
- Familial Dysautonomia
- Familial Mediterranean Fever
- Fanconi Anemia Type C
- Fragile X Syndrome
- 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
- 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
- Short Chain Acyl-CoA Dehydrogenase Deficiency
- 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
- ATP7A-related Disorders
- 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
- Dystrophinopathy (including Duchenne/Becker Muscular Dystrophy)
- ERCC6-related Disorders
- ERCC8-related Disorders
- EVC-related Ellis-van Creveld Syndrome
- EVC2-related Ellis-van Creveld Syndrome
- Fabry Disease
- Fanconi Anemia Complementation Group A
- FKRP-related Disorders
- Galactokinase Deficiency
- Gamma-sarcoglycanopathy
- GLB1-related Disorders
- GLDC-related Glycine Encephalopathy
- 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 II
- Mucopolysaccharidosis Type IIIA
- Mucopolysaccharidosis Type IIIB
- Mucopolysaccharidosis Type IIIC
- MYO7A-related Disorders
- Niemann-Pick Disease Type C2
- Ornithine Transcarbamylase Deficiency
- 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
- X-linked Adrenoleukodystrophy
- X-linked Alport Syndrome
- X-linked Congenital Adrenal Hypoplasia
- X-linked Juvenile Retinoschisis
- X-linked Myotubular Myopathy
- X-linked Severe Combined Immunodeficiency
- Xeroderma Pigmentosum Group A
- Xeroderma Pigmentosum Group C
- Tay-Sachs Enzyme (panel Part)
- 2-methylbutyrylglycinuria
- 3-Beta-Hydroxysteroid Dehydrogenase Type II Deficiency
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC1-Related)
- 3-Methylcrotonyl-CoA Carboxylase Deficiency (MCCC2-Related)
- 3-Phosphoglycerate Dehydrogenase Deficiency (PHGDH)
- Abetalipoproteinemia (MTTP)
- Achalasia-addisonianism-alacrimia Syndrome
- Achromatopsia 2
- Acrodermatitis Enteropathica
- Acute Infantile Liver Failure
- Acyl-CoA Oxidase I Deficiency
- Adams-Oliver Syndrome 4
- Adrenocorticotropic Hormone Deficiency
- Agammaglobulinemia (X-linked)
- Agenesis Of The Corpus Callosum
- Aicardi-Gouti?res Syndrome (SAMHD1-Related)
- Aicardi-Goutieres Syndrome (RNASEH2C-related)
- Aicardi-Goutieres Syndrome 1 (and Other TREX1-related Retinal Dystroph
- Alpha-Thalassemia Mental Retardation Syndrome
- 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
- Barth Syndrome
- Bartter Syndrome, Type 4A
- Bernard-Soulier Syndrome, Type A1
- Bernard-Soulier Syndrome, Type C
- Beta-Ketothiolase Deficiency
- Beta-mannosidosis
- BH4-deficient Hyperphenylalaninemia C
- BH4-deficient Hyperphenylalaninemia D
- Bilateral Frontoparietal Polymicrogyria
- Carnitine Acylcarnitine Translocase Deficiency
- Carpenter Syndrome
- Catecholaminergic Polymorphic Ventricular Tachycardia
- CD59-mediated Hemolytic Anemia
- Central Hypothyroidism And Testicular Enlargement
- Cerebral Creatine Deficiency Syndrome 1
- Cerebral Creatine Deficiency Syndrome 2
- Cerebral Creatine Deficiency Syndrome 3
- Cerebral Dysgenesis, Neuropathy, Ichthyosis, And Palmoplantar Keratode
- Charcot-Marie-Tooth Disease, Type 4D
- Charcot-Marie-Tooth Disease, Type 5 / Arts Syndrome
- Charcot-Marie-Tooth Disease, X-Linked
- Chediak-Higashi Syndrome
- Chondrodysplasia Punctata (X-linked)
- Choreoacanthocytosis
- Chronic Granulomatous Disease (CYBA-related)
- Chronic Granulomatous Disease (CYBB-related)
- Citrin Deficiency
- Combined Factor V And VIII 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 Bile Acid Synthesis Defect (AKR1D1-Related)
- Congenital Bile Acid Synthesis Defect (HSD3B7-Related)
- Congenital Disorder Of Deglycosylation
- Congenital Disorder Of Glycosylation, Type Im
- Congenital Dyserythropoietic Anemia Type 2
- Congenital Dyserythropoietic Anemia, Type Ia
- 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
- Cystinuria (SLC3A1-related)
- Cytochrome C Oxidase Deficiency / Leigh Syndrome (COX15-related)
- Deafness, Autosomal Recessive 3
- Deafness, Autosomal Recessive 59
- 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
- Desmosterolosis
- Diaphanospondylodysostosis
- Distal Renal Tubular Acidosis / Spherocytosis, Type 4
- Dyskeratosis Congenita (X-linked)
- Dystrophic Epidermolysis Bullosa
- Ehlers-Danlos Syndrome, Type VI
- Ehlers-Danlos Syndrome, Type VIIC
- Emery-Dreifuss Myopathy 1
- Enhanced S-Cone Syndrome
- Factor IX Deficiency
- Factor VII Deficiency
- Familial Autosomal Recessive Hypercholesterolemia
- Familial Hypercholesterolemia (LDLR-related)
- Familial Hyperinsulinemic Hypoglycemia 4 / 3-Hydroxyacyl-CoA Dehydroge
- Familial Hyperphosphatemic Tumoral Calcinosis
- Fanconi Anemia, Group G
- Fanconi-Bickel Syndrome
- Fructose-1,6-Bisphosphatase Deficiency
- Fucosidosis
- Fundus Albipunctatus (RDH5-related)
- Galactose Epimerase Deficiency
- Galactosialidosis
- Generalized Thyrotropin-Releasing Hormone Resistance
- Geroderma Osteodysplasticum
- Gitelman Syndrome
- Glanzmann Thrombasthenia (ITGA2B-related)
- Glanzmann Thrombasthenia (ITGB3-related)
- Glutaric Acidemia, Type IIa
- Glutaric Acidemia, Type IIb
- Glutaric Acidemia, Type IIc
- Glycogen Storage Disease, Type 0
- Glycogen Storage Disease, Type IV / Adult Polyglucosan Body Disease
- Glycogen Storage Disease, Type IXb
- Glycogen Storage Disease, Type VI
- Glycogen Storage Disease, Type VII
- Gray Platelet Syndrome
- Growth Hormone Deficiency, Type IB
- Hawkinsinuria / Tyrosinemia, Type III
- Hemochromatosis, Type 2A
- 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
- HMG-CoA Synthase 2 Deficiency
- Homocystinuria, CblE Type
- Homocystinuria-Megaloblastic Anemia, Cobalamin G Type
- Hydrocephalus (X-linked)
- Hyper-IgM Syndrome (X-linked)
- Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
- Hyperparathyroidism/hypocalcemia/type I Hypocalciuric Hypercalcemia/ps
- Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis
- Hypohidrotic Ectodermal Dysplasia 1
- Hypomagnesemia 1
- Hypomyelinating Leukodystrophy 3
- Hypoparathyroidism-retardation-dysmorphic Syndrome
- Hypophosphatemic Rickets With Hypercalciuria
- Hypotrichosis 8 / Autosomal Recessive Woolly Hair 1
- 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)
- Kohlschutter-Tonz Syndrome
- 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
- Lethal Congenital Contracture Syndrome 2
- Lethal Congenital Contracture Syndrome 3
- Leukoencephalopathy With Vanishing White Matter
- Lipoprotein Lipase Deficiency
- Lowe Syndrome (X-linked)
- Lysinuric Protein Intolerance
- Malonyl-CoA Decarboxylase Deficiency
- MEDNIK Syndrome
- Megaloblastic Anemia 1
- Mental Retardation, Autosomal Recessive 3
- Methionine Adenosyltransferase I/III Deficiency
- 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 (NDUFA11-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 (COX20-related)
- Mitochondrial Complex IV Deficiency (COX6B1-related)
- Mitochondrial Complex IV Deficiency (APOPT1-related)
- Mitochondrial Complex IV Deficiency (PET100-related)
- Mitochondrial Complex IV Deficiency (SCO1-Related)
- Mitochondrial Complex IV Deficiency / Leigh Syndrome (COX10-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 5
- Mitochondrial DNA Depletion Syndrome 6 / Navajo Neurohepatopathy
- Mitochondrial Myopathy And Sideroblastic Anemia 1
- Mitochondrial Trifunctional Protein Deficiency (HADHB-Related)
- Molybdenum Cofactor Deficiency A
- Mucolipidosis II / IIIA
- 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 (AVPR2-Related) / Nephrogenic Syndrome
- Nephrogenic Diabetes Insipidus, Type II
- Nephronophthisis 2
- Neurodegeneration Due To Cerebral Folate Transport Deficiency
- 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
- Osteopetrosis 8
- Papillon-Lefevre Syndrome
- Peroxisome Biogenesis Disorder 7A And 7B
- PLAA-related Neurodevelopmental Disorders
- 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 (CCDC151-related)
- Primary Ciliary Dyskinesia (CCDC39-related)
- Primary Ciliary Dyskinesia (DNAH5-Related)
- Primary Ciliary Dyskinesia (DNAI1-Related)
- Primary Ciliary Dyskinesia (DNAI2-related)
- Primary Ciliary Dyskinesia (RSPH9-related)
- Primary Coenzyme Q10 Deficiency 7
- Progressive Cerebello-Cerebral Atrophy
- Progressive Familial Intrahepatic Cholestasis, Type 2
- Progressive Myoclonic Epilepsy, Type 1B
- Progressive Pseudorheumatoid Dysplasia
- Prolidase Deficiency
- Pulmonary Surfactant Dysfunction
- Pyridoxamine 5'-Phosphate Oxidase Deficiency
- Pyridoxine-Dependent Epilepsy
- Pyruvate Dehydrogenase E1-Alpha Deficiency
- 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)
- Retinitis Pigmentosa 64 (and Other C8orf37-related Retinal Dystrophies
- Rh Deficiency Syndrome
- 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
- Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
- Shwachman-Diamond Syndrome
- Sialidosis, Type I And Type II
- SMN2 COPIES
- Spastic Tetraplegia, Thin Corpus Callosum, And Progressive Microcephal
- Spherocytosis, Type 5
- Spinal Muscular Atrophy With Respiratory Distress 1 / Charcot-Marie-To
- Spinocerebellar Ataxia With Axonal Neuropathy 3
- Spondylocostal Dysostosis 1
- Spondylometaepiphyseal Dysplasia (DDR2-related)
- 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 4
- Thyroid Dyshormonogenesis 5
- Thyroid Dyshormonogenesis 6
- Trichohepatoenteric Syndrome 1
- Usher Syndrome, Type ID
- Vitamin D-dependent Rickets, Type I
- Vitamin D-resistant Rickets, Type IIA
- Werner Syndrome
- Wiskott-Aldrich Syndrome (WAS-related, X-linked)
- Wolcott-Rallison Syndrome
- Woodhouse-Sakati Syndrome
- Xeroderma Pigmentosum Variant (POLH-related)
- Xeroderma Pigmentosum, Group G
- Nephrotic Syndrome (NPHS1-Related)
- Nephrotic Syndrome (NPHS2-Related)