Neurodevelopmental disorder with dysmorphic features and variable seizures (NEDDFAS) is caused by disease causing variants in the EMC10 gene, and is inherited in an autosomal recessive manner. The disorder is characterized by moderate to severe developmental delay, borderline too severe intellectual disability, behavioral problems, seizures, poor weight gain, growth deficiency, microcephaly, kidney and urinary tract abnormalities (nephrocalcinosis, renal cysts, and hydronephrosis). Upper limb anomalies such as cubitus valgus, arachnodactyly, and bilateral fifth digit clinodactyly have also been reported.
EMC10