The NDD caused by EMC10 pathogenesis constitute diverse phenotypic presentation including moderate to severe developmental delay, intellectual disability, behavioural abnormalities and impaired social skills, seizures, multifocal generalized tonic-clonic, and/or febrile seizures, poor weight gain and growth deficiency, microcephaly, and polyuria. Affected individuals revealed upper limb anomalies such as cubitus valgus, arachnodactyly, and fifth finger clinodactyly.
Renal imaging findings showed medullary nephrocalcinosis, renal cysts, and hydronephrosis in some patients.
Table 1: Clinical manifestation EMC10 (N=25). [Kaiyrzhanov et al., 2022; Umair et al., 2020; Shao et al., 2021]
| Feature | % of Persons w/Feature |
Developmental delay | 24/25 |
| Intellectual disability | 24/25 |
| Seizures | 11/25 |
| Poor weight gain/growth deficiency | 9/25 |
| Microcephaly | 4/25 |
| Dysmorphic facial features | 25/25 |