NEDDFAS caused by EMC10 pathogenesis constitute diverse phenotypic presentation including moderate to severe developmental delay, intellectual disability, behavioral abnormalities, impaired social skills, seizures, multifocal generalized tonic-clonic, and/or febrile seizures, poor weight gain and growth deficiency, microcephaly, and polyuria. Affected individuals also revealed upper limb anomalies such as cubitus valgus, arachnodactyly, and fifth finger clinodactyly.
Renal imaging findings revealed medullary nephrocalcinosis, renal cysts, and hydronephrosis in some patients.
EMC10