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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:
This is a list of disorder codes in the Online Mendelian Inheritance in Man ... Cataract, autosomal dominant, multiple types 1; 611597; BFSP2; Cataract, ...
Disorder prevalence (approximate) Autosomal dominant Familial hypercholesterolemia: 1 in 500 [11] Myotonic dystrophy type 1: 1 in 2,100 [12] Neurofibromatosis type I: 1 in 2,500 [13] Hereditary spherocytosis: 1 in 5,000 Marfan syndrome: 1 in 4,000 [14] Huntington's disease: 1 in 15,000 [15] Autosomal recessive Sickle cell anaemia: 1 in 625 [16 ...
The diseases were categorized into five types HSAN I-V based on the mode of inheritance, the predominant clinical features, and the age at onset. The diseases that are characterized by autosomal dominant mode of inheritance and adolescence or adulthood disease onset are categorized in HSAN I. [41] [40]
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 cerebellar ataxia (ADCA) is a form of spinocerebellar ataxia inherited in an autosomal dominant manner. ADCA is a genetically inherited condition that causes deterioration of the nervous system leading to disorder and a decrease or loss of function to regions of the body.
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.