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| Early onset or syndromic epilepsy v3.65 | CAMLG |
Achchuthan Shanmugasundram gene: CAMLG was added gene: CAMLG was added to Genetic epilepsy syndromes. Sources: Literature Mode of inheritance for gene: CAMLG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAMLG were set to 35262690 Phenotypes for gene: CAMLG were set to Congenital disorder of glycosylation, type IIz, OMIM:620201 Review for gene: CAMLG was set to RED Added comment: Comment on classification of gene: This gene should be rated red as there is only one patient reported so far. PMID:35262690 reported one patient with homozygous c.633 + 4A>G splice variant in CAMLG presented with a predominantly neurological phenotype with psychomotor disability, hypotonia, epilepsy and structural brain abnormalities. This gene has already been associated with phenotype in OMIM (MIM #620201), but not in Gene2Phenotype. Sources: Literature |
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