All individuals with variants in gene CAMK2G

3 entries on 1 page. Showing entries 1 - 3.
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00183053 23033978-Trio32 PubMed: de Ligt 2012 - M - Netherlands - - - - - ID see paper; … 1 1 Johan den Dunnen
00447932 Pat2 PubMed: Proietti Onori 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - ID see paper; ..., infancy generalized hypotonia, developmental delay, remained hypotonic with markedly delayed gross motor and speech/language skills; 5y-severe intellectual disability, autism; relative macrocephaly, prominent capillary vascular malformations forehead and glabella, minor dysmorphic facial features, severe hypotonia 1 1 Johan den Dunnen
00447942 Pat10 PubMed: Ostrander 2018 2-generation family, 1 affected, unaffected non-carrier parents M - United States - - - - - EIEE see paper; ..., global developmental delay, spastic cerebral palsy, postnatal microcephaly; seizure types flexor spasms, tonic spasms, generalized tonic clonic; EEG Hypsarrhythmia, multifocal spike wave; MRI brain delayed myelination 1 1 Johan den Dunnen
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