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Tietz syndrome is caused by mutations in the MITF gene, located on human chromosome 3p14.1-p12.3. [2] [4] [7] It is inherited in an autosomal dominant manner. [2]This indicates that the defective gene responsible for a disorder is located on an autosome (chromosome 3 is an autosome), and only one copy of the defective gene is sufficient to cause the disorder, when inherited from a parent who ...
Inheritance is independent of sex, and the phenotype does not skip generations. Huntington's disease has autosomal dominant inheritance, meaning that an affected individual typically inherits one copy of the gene with an expanded trinucleotide repeat (the mutant allele) from an affected parent. [26]
Timothy syndrome is a rare autosomal-dominant disorder characterized by physical malformations, as well as neurological and developmental defects, including heart QT-prolongation, heart arrhythmias, structural heart defects, syndactyly (webbing of fingers and toes), and autism spectrum disorders. Timothy syndrome represents one clinical ...
Frequency. Ultra Rare; approx. 170 cases worldwide. Deaths. -. CHAMP1-associated intellectual disability syndrome, also known as autosomal dominant intellectual disability type 40, is a rare genetic disorder characterized by intellectual disabilities, developmental delays, facial dysmorphisms, and other anomalies. [1]
While Wolfram syndrome tends to follow an autosomal recessive inheritance pattern, [35] Wolfram-like syndrome follows an autosomal dominant inheritance pattern. [36] In Wolfram syndrome, symptoms such as intellectual disabilities , ataxia , anosmia , ageusia , and/or sleep apnea , alongside other cardiac and/or endocrine symptoms [ 37 ] are ...
Autosomal dominant inheritance means that for a person to exhibit a specific trait/disorder, only one copy of a mutated gene is enough for the trait to be exhibited, and although this mutation can be inherited, it can also occur spontaneously, and due to its dominant nature over recessive genes, it expresses itself.
Cardiology, rheumatology, medical genetics. Loeys–Dietz syndrome (LDS) is an autosomal dominant genetic connective tissue disorder. It has features similar to Marfan syndrome and Ehlers–Danlos syndrome. [3][4][5] The disorder is marked by aneurysms in the aorta, often in children, and the aorta may also undergo sudden dissection in the ...
Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome is a rare genetic disorder which is characterized by multi-systemic symptoms primarily affecting the intellect and post-natal development.