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Autosomal dominant cerebellar ataxia; Autosomal dominant Charcot–Marie–Tooth disease type 2 with giant axons; Autosomal dominant GTP cyclohydrolase I deficiency; Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome; Autosomal dominant nocturnal frontal lobe epilepsy; Autosomal dominant partial epilepsy ...
The following is a list of genetic disorders and if known, ... autosomal dominant, autosomal recessive or X-linked recessive 2-6:100,000 Hermansky–Pudlak syndrome:
[24] [25] Some autosomal recessive disorders are common because, in the past, carrying one of the faulty genes led to a slight protection against an infectious disease or toxin such as tuberculosis or malaria. [26] Such disorders include cystic fibrosis, [27] sickle cell disease, [28] phenylketonuria [29] and thalassaemia. [30]
This is a list of disorder codes in the Online Mendelian Inheritance in Man (OMIM) database. These are diseases that can be inherited via a Mendelian genetic mechanism. OMIM is one of the databases housed in the U.S. National Center for Biotechnology Information.
Autosomal dominant cerebellar ataxia, deafness, and narcolepsy; Autosomal dominant partial epilepsy with auditory features; Autosomal dominant porencephaly type I; Autosomal recessive axonal neuropathy with neuromyotonia; Autosomal recessive bestrophinopathy
Autosomal dominant A 50/50 chance of inheritance. Sickle-cell disease is inherited in the autosomal recessive pattern. When both parents have sickle-cell trait (carrier), a child has a 25% chance of sickle-cell disease (red icon), 25% do not carry any sickle-cell alleles (blue icon), and 50% have the heterozygous (carrier) condition. [1]
Pages in category "Neurodegenerative disorders" The following 59 pages are in this category, out of 59 total. ... Autosomal dominant cerebellar ataxia;
Chromosome inheritance of genodermatosis refers to the inheritance of a skin disease caused by chromosome abnormality. The same disease can be inherited in different modes. For instance, epidermolysis bullosa can be inherited in the mode of autosomal dominant or in the mode of autosomal recessive.