Create issue ticket

2 Possible Causes for Mutation in the Ionotropic Glutamate Receptor Delta 2 Gene

  • Autosomal Recessive Spinocerebellar Ataxia 18

    Most textbooks on neurodegenerative disorders have used a classification scheme based upon either clinical syndromes or anatomical distribution of the pathology. In contrast, this book looks to the future and uses a classification based upon molecular mechanisms, rather than clinical or anatomical boundaries. Major[…][]

  • Al-Gazali-Dattani Syndrome

    […] in the ionotropic glutamate receptor, delta 2 gene (GRID2, 602368.0002) Description A number sign (#) is used with this entry because congenital cataracts, hearing loss,[] […] and neurodegeneration (CCHLND) is caused by homozygous or compound heterozygous mutation in the SLC33A1 gene (603690) on chromosome 3q25.Congenital cataracts, hearing loss[] Patients need support with walking or are wheelchair-bound; Two consanguineous Turkish families have been reported (last curated January 2015) MOLECULAR BASIS: Caused by mutation[]

Further symptoms