List of Human Genetic Disorders

The genetic disorder arises in humans in the following ways:
  1. By anomalies in chromosomes
  2. By gene mutations in chromosomes
  3. By Incompatibility of genes
List of Human Genetic Disorders
Human Genetic Disorder

 1. i. Abnormalies of Autosomes
    ii. Anomalies in sex chromosomes
  • Turner's syndrome
  • Klinefelter's syndrome
  • Super males
  • Super females
2. i. Gene mutations in autosomes

 a) Dominantly inherited traits
  • Achondroplasia
  • Marfan's syndrome
  • Huntington's chorea
Autosomal Dominant Inheritance
  b) Recessive inherited traits
  • Alkaptonuria
  • Phenylketonuria
  • Albinism
  • Tay-Sach's disease
  • Gaucher's disease
  • Sickle Cell Anemia
  • Thalassemia
  • Cystic Fibrosis (CF)

Autosomal Recessive Inheritance
  ii. Gene mutations in sex chromosomes (Sex-linked Disorders)
  • Hemophilia
  • Night blindness
  • Colour blindness
  • Duchenne's Muscular Dystrophy (DMD)
3. Disorders due to Incompatibility of genes
  • ABO blood  group incompatibility
  • Rh factor incompatibility


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