Litcius/Paper detail

The phenotype of homozygous EMC10 variant: A new syndrome with intellectual disability and language impairment

Eliana Haddad-Eid, Noa Gur, Sharbel Eid, Tammy Pilowsky-Peleg, Rachel Straussberg

2022European Journal of Paediatric Neurology10 citationsDOI

Topics & Concepts

Intellectual disabilityNormativeExome sequencingBorderline intellectual functioningNeuropsychologyPsychologyCognitionCognitive skillPhenotypeDevelopmental psychologyClinical psychologyGeneticsPsychiatryBiologyGenePhilosophyEpistemologyGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersEpilepsy research and treatment