For detailed information on a specific inherited genetic disease or non-inheritable genetic condition, select from the list below.

Disease Name
X-linked Juvenile Retinoschisis
Wilson Disease
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency
Usher Syndrome Type 3
Usher Syndrome Type 1F & III
Type I Tyrosinemia
TPP1-Related Neuronal Ceroid Lipofuscinosis
Tay-Sachs Disease
Sulfate Transporter-Related Osteochondrodysplasia
Steroid-Resistant Nephrotic Syndrome
Spinal Muscular Atrophy
Smith-Lemli-Opitz Syndrome
Sjögren-Larsson Syndrome
Sickle Cell Anemia
Short Chain Acyl-CoA Dehydrogenase Deficiency
Segawa Syndrome
Salla Disease
Rhizomelic Chondrodysplasia Punctata Type 1
Retinitis Pigmentosa 59
Pseudocholinesterase Deficiency
Prothrombin-related Thrombophilia
Primary Hyperoxaluria Type 2
Primary Hyperoxaluria Type 1
Primary Carnitine Deficiency
PPT1-Related Neuronal Ceroid Lipofuscinosis
Pompe Disease
Phenylalanine Hydroxylase Deficiency
PEX1-related Zellweger Syndrome Spectrum
Pendred Syndrome
Northern Epilepsy
Nijmegen Breakage Syndrome
Niemann-Pick Disease Type C
NEB-related Nemaline Myopathy
Muscle-Eye-Brain Disease
Multiple Sulfatase Deficiency
Mucolopidosis IV
Metachromatic Leukodystrophy
Megalencephalic Leukoencephalopathy with Subcortical Cysts
Medium Chain Acyl-CoA Dehydrogenase Deficiency
Maple Syrup Urine Disease
Long Chain 3-hydroxyacyl-CoA Dehydrogenase Deficiency
Limb-Girdle Muscular Dystrophy Type 2E
Limb-Girdle Muscular Dystrophy Type 2D
LAMC2-Related Junctional Epidermolysis Bullosa
LAMB3-Related Junctional Epidermolysis Bullosa
LAMA3-Related Junctional Epidermolysis Bullosa
Krabbe Disease
Joubert Syndrome 2
Isovaleric Acidemia
Inclusion Body Myopathy 2
Hurler Syndrome (Mucopolysaccharidosis Type 1)
HFE-Associated Hereditary Hemochromatosis
Hereditary Thymine-Uraciluria
Hereditary Fructose Intolerance
Gracile Syndrome
Glycogen Storage Disease Type V
Glycogen Storage Disease Type 3
Glycogen Storage Disease Type 1a
Glutaric Acidemia Type Ia
Glucose-6-Phosphate Dehydrogenase Deficiency
GJB2-Related DFNB1 Nonsyndromic Hearing Loss and Deafness
Gaucher Disease
Fragile X
FKTN-Related Walker-Warburg Syndrome
FANCC-Associated Fanconi Anemia
Familial Mediterranean Fever
Familial Dysautonomia
Factor XI Deficiency
Factor V Leiden Thrombophilia
Ehlers-Danlos Syndrome Type VIIC
Dyskeratosis Congenita (autosomal)
Dyskeratosis Congenita
D-Bifunctional Protein Deficiency
Cystic Fibrosis
Costeff Optic Atrophy Syndrome
Congenital Finnish Nephrosis
Congenital Disorder of Glycosylation, Type Ib
Congenital Disorder of Glycosylation, Type Ia
Congenital Amegakaryocytic Thrombocytopenia
Combined Pituitary Hormone Deficiency
Cohen Syndrome
CLN5-Related Neuronal Ceroid Lipofuscinosis
CLN3-Related Neuronal Ceroid Lipofuscinosis
Classic Citrullinemia
Cartilage-Hair Hypoplasia – Anauxetic Dysplasia Spectrum Disorders
Carnitine Palmitoyltransferase II Deficiency
Carnitine Palmitoyltransferase IA Deficiency
Canavan Disease
Bloom Syndrome
Biotinidase Deficiency
Beta Thalassemia
Bardet-Biedl Syndrome (BBS10-related)
Bardet-Biedl Syndrome (BBS1-related)
Autosomal Recessive Polycystic Kidney Disease
Autosomal Recessive Alport Syndrome
Autoimmune Polyglandular Syndrome Type 1
Ataxia with Vitamin E Deficiency
Arthrogryposis, Mental Retardation, and Seizures
Andermann Syndrome
Alpha-1 Antitrypsin Deficiency
Alpha Thalassemia
ABCC8-Related Hyperinsulinism
3-Phosphoglycerate Dehydrogenase Deficiency

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