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Duchenne / Becker Muscular Dystrophy (DMD / BMD) which is characterized by progressive muscle weakness and atrophy, caused by mutations...
Spinal Muscular Atrophy (SMA) is clinically characterized by progressive muscle weakness depending upon the degeneration in the anterior horn cells...
Rett Syndrome is an X-linked autosomal disease and clinical signs vary according to the gender. The disease may follow a...
Fragile X syndrome is the most common form of inherited mental retardation. Incidence frequency is 1/1200 in males and 1/2500...
Achondroplasia and Hypochondroplasia which are the most common reasons of hereditary dwarfism , caused by mutations in FGFR3 gene. The...
Hereditary hemochromatosis (HH) which is transmitted as an autosomal recessive trait, is a common disease related to iron metabolism. Hereditary...
AAT deficiency is one of the most common hereditary diseases. It reflects its symptoms with liver disease (elevated liver enzymes,...
A non-syndromic hearing loss (DFNB1) is a congenital and autosomal recessive disease. It can also be defined as a non-progressive...
Charcot-Marie-Tooth Neuropathy Type 1 (CMT1) is an autosomal dominant demyelinating peripheral neuropathy characterized by distal muscle weakness and atrophy, along...
Smith-Lemli-Opitz Syndrome (SLOS) is a cholesterol metabolic disorder caused by deficiency of 7-dehydrocholesterol (7-DHC) reductase enzyme. Patients show prenatal and...
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