Childhood-Onset Neurodegeneration With Progressive Microcephaly (CONPM) due to a DTYMK Homozygous Pathogenic Variant: Outlining the Phenotype of an Ultra-Rare Disease.

Abstract excerpt

Childhood-onset neurodegeneration with progressive microcephaly (CONPM) is a rare autosomal recessive disorder caused by pathogenic variants in the DTYMK gene. This ultra-rare condition is characterized by progressive neurological regression, epilepsy, severe microcephaly, and global cerebral atrophy. Only four cases have been reported in the literature to date. This paper's objective is to describe the fifth...

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