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Fragile X syndrome is the most common form of inherited mental retardation. Incidence frequency is 1/1200 in males and 1/2500...
Rett Syndrome is an X-linked autosomal disease and clinical signs vary according to the gender. The disease may follow a...
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 Nöropati Tip 1 (CMT1); distal kas zayıflığı ve atrofisi, sinir ileti hızında yavaşlama ile karakterize otozomal dominant bir demyelinizan...
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 (Neuraminidase-Mucolipidosis Type I ) is a lysosomal storage disease caused by insufficient neuraminidase enzyme. Patients are clinically categorized as...
Down syndrome(DS) is the most commonly observed chromosomal abnormality and occurrence frequency is one out of every 600-700 births. Since...
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