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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 ...
Download as PDF; Printable version; ... Autosomal dominant disorders (3 C, 211 P) Autosomal recessive disorders (5 C, 441 P) M. Mitochondrial diseases (25 P) X.
The following is a list of genetic disorders and if known, type of mutation and for the chromosome involved. Although the parlance "disease-causing gene" is common, it is the occurrence of an abnormality in the parents that causes the impairment to develop within the child.
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
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.
The following is a list of all the symptoms: [2] Moderate to severe intellectual disabilities; Speech delay; Macrocephaly; Childhood low muscle tone; Feeding problems; Variable cardiac anomalies; Facial dysmorphisms; Additional symptoms include polyhydramnios and epilepsy. [3]
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]
This is called autosomal recessive inheritance. More rarely described are individuals with a single dysfunctional copy of C19orf12 causing disease, considered to be an autosomal dominant form of the disease that can either be inherited or arise from a de novo mutation .