X-linked recessive inheritance: Difference between revisions

Revision as of 13:06, 21 April 2022

Revision as of 00:40, 20 June 2022

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* [[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|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 mentalintellectual retardationdisability 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 mentalintellectual retardationdisability.

* [[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)

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* [[Occipital horn syndrome]]; deformations in the skeleton

* [[Ocular albinism]]; lack of pigmentation in the eye

* [[Ornithine transcarbamylase deficiency]]; developmental delay and mentalintellectual retardationdisability. 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 mentalintellectual retardationdisability 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