Clinical Guidance
EMC10-related neurodevelopmental disorder (EMC10-NDD) is characterized by developmental delay, intellectual disability, and dysmorphic features (long face, pointed chin, nystagmus, crowded teeth). Neurobehavioral manifestations, seizures, growth deficiency, and microcephaly have been reported in some individuals. To date, 30 individuals have been identified with biallelic pathogenic variants in EMC10 [, , , ]. The following description of the phenotypic features associated with this condition is based on these reports. Table 2. EMC10-Related Neurodevelopmental Disorder: Frequency of Select Features
Feature | Proportion of Persons w/Feature | Comment |
|---|
Developmental delay | 29/30 | Moderate to severe |
Intellectual disability | 29/30 | Mild to severe |
Seizures | 13/30 | — |
Poor weight gain/ growth deficiency | 9/30 | — |
Microcephaly | 4/30 | — |
Nephrocalcinosis | 4/30 | — |
Renal cysts | 5/30 | — |
Hydronephrosis/hydroureter | 3/30 | — |
Dysmorphic facial features | 30/30 | Long face, pointed chin, nystagmus, crowded teeth Developmental delay. Most individuals with EMC10-NDD present with developmental delay affecting motor, speech, and cognition. Developmental delays are variable, with disability ranging from moderate to severe. |
Source: GeneReviews — "EMC10-Related Neurodevelopmental Disorder"
