X連鎖隱性遺傳
Examples > Less common disorders

参见：X-linked intellectual disability
Theoretically, a mutation in any of the genes on chromosome X may cause disease, but below are some notable ones, with short description of symptoms:
Adrenoleukodystrophy; leads to progressive brain damage, failure of the adrenal glands and eventually death.
Alport syndrome; glomerulonephritis, endstage kidney disease, and hearing loss. A minority of Alport syndrome cases are due to an autosomal recessive mutation in the gene coding for type IV collagen.
Androgen insensitivity syndrome; variable degrees of undervirilization and/or infertility in XY persons of either sex
Barth syndrome; metabolism distortion, delayed motor skills, stamina deficiency, hypotonia, chronic fatigue, delayed growth, cardiomyopathy, and compromised immune system.
Blue cone monochromacy; low vision acuity, color blindness, photophobia, infantile nystagmus.
Centronuclear myopathy; where cell nuclei are abnormally located in skeletal muscle cells. In CNM the nuclei are located at a position in the center of the cell, instead of their normal location at the periphery.
Charcot–Marie–Tooth disease (CMTX2-3); disorder of nerves (neuropathy) that is characterized by loss of muscle tissue and touch sensation, predominantly in the feet and legs but also in the hands and arms in the advanced stages of disease.
Coffin–Lowry syndrome; severe intellectual disability sometimes associated with abnormalities of growth, cardiac abnormalities, kyphoscoliosis as well as auditory and visual abnormalities.
Fabry disease; A lysosomal storage disease causing anhidrosis, fatigue, angiokeratomas, burning extremity pain and ocular involvement.
Hunter syndrome; potentially causing hearing loss, thickening of the heart valves leading to a decline in cardiac function, obstructive airway disease, sleep apnea, and enlargement of the liver and spleen.
Hypohidrotic ectodermal dysplasia, presenting with hypohidrosis, hypotrichosis, hypodontia
Kabuki syndrome (the KDM6A variant); multiple congenital anomalies and intellectual disability.
Spinal and bulbar muscular atrophy; muscle cramps and progressive weakness
Lesch–Nyhan syndrome; neurologic dysfunction, cognitive and behavioral disturbances including self-mutilation, and uric acid overproduction (hyperuricemia)
Lowe syndrome; hydrophthalmia, cataracts, intellectual disabilities, aminoaciduria, reduced renal ammonia production and vitamin D-resistant rickets
Menkes disease; sparse and coarse hair, growth failure, and deterioration of the nervous system
Nasodigitoacoustic syndrome; misshaped nose, brachydactyly of the distal phalanges, sensorineural deafness
Nonsyndromic deafness; hearing loss
Norrie disease; cataracts, leukocoria along with other developmental issues in the eye
Occipital horn syndrome; deformations in the skeleton
Ocular albinism; lack of pigmentation in the eye
Ornithine transcarbamylase deficiency; developmental delay and intellectual disability. Progressive liver damage, skin lesions, and brittle hair may also be seen
Oto-palato-digital syndrome; facial deformities, cleft palate, hearing loss
Siderius X-linked mental retardation syndrome; cleft lip and palate with intellectual disability and facial dysmorphism, caused by mutations in the histone demethylase PHF8
Simpson–Golabi–Behmel syndrome; coarse faces with protruding jaw and tongue, widened nasal bridge, and upturned nasal tip
Spinal muscular atrophy caused by UBE1 gene mutation; weakness due to loss of the motor neurons of the spinal cord and brainstem
Wiskott–Aldrich syndrome; eczema, thrombocytopenia, immune deficiency, and bloody diarrhea
X-linked severe combined immunodeficiency (SCID); infections, usually causing death in the first years of life
X-linked sideroblastic anemia; skin paleness, fatigue, dizziness and enlarged spleen and liver.