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Several genes have been implicated in a highly variable presentation of developmental delay with psychomotor retardation. Mutations in EMC1 gene have recently been reported. Herein, we describe a proband born… Click to show full abstract
Several genes have been implicated in a highly variable presentation of developmental delay with psychomotor retardation. Mutations in EMC1 gene have recently been reported. Herein, we describe a proband born of a consanguineous marriage, who presented with early infantile onset epilepsy, scaphocephaly, developmental delay, central hypotonia, muscle wasting, and severe cerebellar and brainstem atrophy.
Keywords:
epilepsy;
psychomotor retardation;
novel splice;
psychomotor;
atrophy
Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018
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Journal Title: Molecular Genetics & Genomic Medicine
Year Published: 2018
Link to full text (if available)
Share on Social Media: Sign Up to like & get
recommendations!