X linked Recessive diseases

Adrenoleukodystrophy which leads to progressive brain damage, failure of the adrenal glands and eventually death.

Alport syndrome which includes glomerulonephritis-renal failure and deafness.

Androgen insensitivity syndrome with receptor resistance to the effect of androgens. The patient is typically a young woman (phenotypically) with XY chromosomes.

Charcot-Marie-Tooth disease which is a hereditary neuropathy.

Duchenne and Becker muscular dystrophy characterized by rapid progression of muscle degeneration, eventually leading to loss in ambulation and death.

Fabry disease- a lysosomal storage disease due to deficiency of the enzyme ceraminidase.

Fragile X syndrome resulting from expansion of a single trinucleotide gene sequence (CGG) on the X chromosome. Clinical features include long face, testicular enlargement, Mental retardation.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency.

Hemophilia A and B (Deficiency of factor 8 and 9 respectively). Hemophilia B is also known as Christmas disease.

Hunter's Syndrome which is one of the Mucopolysachharidosis.

Kabuki syndrome with multiple congenital anomalies and mental retardation.

Lesch-Nyhan syndrome is a disorder of purine metabolism with neurologic dysfunction, cognitive and behavioral disturbances including self-mutilation.

Lowe Syndrome- Oculo-cerebro-renal syndrome.

Menkes disease with sparse and coarse hair, growth failure, and neurological symptoms.

Ornithine transcarbamylase deficiency is relatively common disorder of protein metabolism.

Red-Green color blindness, also known as daltonism.

Rett syndrome with acquired microcephaly and small hands and feet. Stereotypic, repetitive hand movements.

Wiskott-Aldrich syndrome is the classic triad of eczema, thrombocytopenia and immune deficiency.

X-linked agammaglobulinemia (XLA) also known as Bruton's disease.

X-linked ichthyosis (fish skin) is a hereditary deficiency of the steroid sulfatase (STS) enzyme.

X-linked Severe Combined Immunodeficiency (SCID); is a severe form of immunodeficiency usually causing death in the first years of life.