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Frajil X Sendrome
Fragile X syndrome is the most common form of inherited mental retardation. Incidence frequency is 1/1200 in males and 1/2500…
Rett Syndrome
Rett Syndrome is an X-linked autosomal disease and clinical signs vary according to the gender. The disease may follow a…
Achondroplasia
Achondroplasia and Hypochondroplasia which are the most common reasons of hereditary dwarfism , caused by mutations in FGFR3 gene. The…
Hemokromatozis
Hereditary hemochromatosis (HH) which is transmitted as an autosomal recessive trait, is a common disease related to iron metabolism. Hereditary…
Alpha-1-Antitrypsin Deficiency
AAT deficiency is one of the most common hereditary diseases. It reflects its symptoms with liver disease (elevated liver enzymes,…
Congenital Hearing Loss
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
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 (SLOS)
Smith-Lemli-Opitz Syndrome (SLOS) is a cholesterol metabolic disorder caused by deficiency of 7-dehydrocholesterol (7-DHC) reductase enzyme. Patients show prenatal and…
Sialidosis (Mucolipidosis Type I)
Sialidosis (Neuraminidase-Mucolipidosis Type I ) is a lysosomal storage disease caused by insufficient neuraminidase enzyme. Patients are clinically categorized as…
Osteoprosis
Studies have revealed some polymorphisms related to reduction in bone mineral density (BMD) and fracture risk. Today, Collagen Type 1,…