Down Syndrome

Down syndrome(DS) is the most commonly observed chromosomal abnormality and occurrence frequency is one out of every 600-700 births. Since it has its own unique...

Osteoprosis

Studies have revealed some polymorphisms related to reduction in bone mineral density (BMD) and fracture risk. Today, Collagen Type 1, vitamin D, estrogen and calcitonin...

Sialidosis (Mucolipidosis Type I)

Sialidosis (Neuraminidase-Mucolipidosis Type I ) is a lysosomal storage disease caused by insufficient neuraminidase enzyme. Patients are clinically categorized as Type...

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...

Charcot-Marie-Tooth

Charcot-Marie-Tooth Nöropati Tip 1 (CMT1); distal kas zayıflığı ve atrofisi, sinir ileti hızında yavaşlama ile karakterize otozomal dominant bir demyelinizan...

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 sensorineural hearing loss ranging from...

Alpha-1-Antitrypsin Deficiency

AAT deficiency is one of the most common hereditary diseases. It reflects its symptoms with liver disease (elevated liver enzymes, neonatal hepatitis, chronic liver...

Hemokromatozis

Hereditary hemochromatosis (HH) which is transmitted as an autosomal recessive trait, is a common disease related to iron metabolism. Hereditary hemochromatosis which...

Achondroplasia

Achondroplasia and Hypochondroplasia which are the most common reasons of hereditary dwarfism , caused by mutations in FGFR3 gene. The disease is characterized by short...

Rett Syndrome

Rett Syndrome is an X-linked autosomal disease and clinical signs vary according to the gender. The disease may follow a classic or atypical course in girls and patients...

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 in females. It has been localized at Xq27.3...

Spinal Muscular Atrophy (SMA)

Spinal Muscular Atrophy (SMA) is clinically characterized by progressive muscle weakness depending upon the degeneration in the anterior horn cells of spinal cord and...

DMD / BMD Muscular Diseases

Duchenne / Becker Muscular Dystrophy (DMD / BMD) which is characterized by progressive muscle weakness and atrophy, caused by mutations in the dystrophin gene....

Cystic Fibrosis

Cystic fibrosis is an autosomal recessive disease which is characterized by observed elevation in the sweat chloride concentration via evidences in the lungs and...

Alpha Thalassemia

Alpha thalassemia has clinically 2 significant forms. These are Bart hydrops fotalis hemoglobin (Hb Bart) syndrome and hemoglobin H (HBH) disease. Hb Bart syndrome is...

Sickle Cell Anemia

Sickle Cell Anemia is a kind of typical blood disease showing autosomal recessive character and it can be characterized by chronic anemia and periodic pain attacks. The...

Beta thalassemia (Mediterranean anemia)

Beta thalassemia is a very common type of blood disease seen in Turkey as well as other mediterranean countries. Although carrier frequency for this disease may rise up...

Familial Mediterranean Fever

Familial Mediterranean Fever (FMF) which is an autosomal recessive inherited disease and characterized by short term repetitive severe abdominal pain with high fever...