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  • [[File:X-linked dominant.svg|thumb|upright=1.75|X-linked dominant inheritance]] ...order. In this case, someone who [[Gene expression|expresses]] an X-linked dominant allele will exhibit the disorder and be considered affected.{{cn|date=Janua ...
    8 KB (1,170 words) - 06:31, 2 June 2025
  • {{short description|Rare X-linked form of chondrodysplasia punctata}} ...}}</ref>{{rp|500}} "Happle syndrome,"<ref name="Bolognia" /> and "X-linked dominant chondrodysplasia punctata"<ref name="Bolognia">{{cite book| author = Rapini ...
    7 KB (897 words) - 05:31, 2 November 2024
  • X-linked dominant erythropoietic protoporphyria is a relatively mild version of [[porphyria]] ...al deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload |journal=Am. J. Hum. Genet. ...
    6 KB (726 words) - 15:35, 18 December 2024
  • ...rinciples of [[Mendelian inheritance]] can determine whether a trait has a dominant or recessive pattern of inheritance. Pedigrees are often constructed after File:Wiki Drawing - Mitochondrial.svg|Mitochondrial disorders are only passed on if the mother is affected. If the mother is affected, al ...
    9 KB (1,352 words) - 03:07, 27 May 2025
  • | name = Autosomal dominant hypophosphatemic rickets | image = File:Autosomal dominant - en.svg ...
    4 KB (539 words) - 19:02, 14 January 2025
  • ...rength, and elasticity to connective tissue. Type II and type XI collagen disorders are grouped together because both types of collagen are components of the [ ...t palate]] with a small lower jaw, are common. Some individuals with these disorders have distinctive facial features such as protruding eyes and a flat nasal b ...
    3 KB (453 words) - 05:18, 29 July 2022
  • | synonyms = Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy | image = Autosomal dominant - en.svg ...
    6 KB (725 words) - 10:17, 25 May 2025
  • | image = Autosomal dominant - en.svg | caption = Léri–Weill dyschondrosteosis is inherited in an autosomal dominant manner ...
    4 KB (432 words) - 05:53, 12 June 2024
  • | image = Autosomal dominant - en.svg | caption = Flynn–Aird syndrome has an autosomal dominant pattern of [[inheritance]]. ...
    7 KB (970 words) - 00:59, 23 October 2023
  • ...dysplasia congenita are similar to, but milder than, the related skeletal disorders [[achondrogenesis type 2]] and [[hypochondrogenesis]]. Spondyloepiphyseal d Spondyloepiphyseal dysplasia congenita is one of a spectrum of skeletal disorders caused by mutations in the ''[[COL2A1]]'' gene.<ref>{{cite web |last1=Refer ...
    7 KB (835 words) - 04:10, 25 February 2025
  • {{Short description|Muscular degenerative disorders caused by dysfunction of spinal neurons}} ...are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of [[lower motor neuron]]s ([[neuron]]al ...
    16 KB (1,935 words) - 03:55, 4 September 2024
  • ...symptoms is also noted. Anticipation is common in [[trinucleotide repeat disorders]], such as [[Huntington's disease]] and [[myotonic dystrophy]], where a [[d ...in which the repeat is found (ex. [[fragile X]]) or many genes through a [[dominant negative]] effect (ex. [[myotonic dystrophy]]).{{cn|date=September 2021}} ...
    5 KB (780 words) - 00:36, 17 June 2025
  • | image = X-linked recessive.svg | caption = This condition is inherited in an X-linked recessive manner ...
    15 KB (1,941 words) - 18:31, 25 May 2025
  • [[File:X-linked recessive (2).svg|thumb|right|upright=1.75|X-linked recessive inheritance]] '''X-linked recessive inheritance''' is a mode of [[Mendelian inheritance|inheritance]] ...
    15 KB (2,122 words) - 15:40, 28 March 2025
  • | image = X-linked recessive.svg | caption = This condition is inherited in an X-linked recessive manner. ...
    13 KB (1,669 words) - 19:58, 2 May 2025
  • ...lieved to be inherited in an [[autosome|autosomal]] [[dominance (genetics)|dominant]] manner.<ref name="pmid10607719"/><ref name=mad>{{Cite journal| pmid = 932 [[Category:Congenital disorders]] ...
    3 KB (392 words) - 20:34, 27 May 2025
  • | image = File:Autosomal dominant - en.svg | caption = Hypochondroplasia is autosomal dominant in inheritance. ...
    7 KB (884 words) - 14:29, 27 October 2023
  • {{short description|Rare X-linked dominant genetic disorder}} | image = X-linked dominant (affected mother).svg ...
    11 KB (1,423 words) - 04:13, 24 June 2025
  • ...OSMED, Heterozygous. (2006). Retrieved from National Organization for Rare Disorders: http://rarediseases.org/rare-diseases/osmed-heterozygous </ref> After the Dominant genetic disorders can be caused by just a single copy of an abnormal gene. This abnormal gene ...
    6 KB (838 words) - 23:07, 29 October 2024
  • {{Short description|Family of disorders causing dry, thickened, scaly skin}} ...ce (e.g., [[Dominance (genetics)|dominant, recessive]], [[autosomal]] or [[X-linked]]). Ichthyosis comes {{ety|el|''ἰχθύς'' (ichthys)|fish}}, since dry, scaly ...
    15 KB (1,826 words) - 14:16, 27 April 2025
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