Figure 1.

Prevalent clinical features of individuals with bi-allelic variants in SPATA5L1

(A) Bar graph illustrating the prevalence of the most relevant clinical features from the 25 individuals for whom full datasets were available from 18 families with the neurodevelopmental phenotype. Blue: individuals with the clinical feature. Gray: individuals without the clinical feature.

(B) Representative clinical features of individuals carrying bi-allelic SPATA5L1 variants with the severe neurodevelopmental phenotype, showing subtle and non-specific dysmorphic features, including downslanting palpebral fissures, bitemporal narrowing, and depressed nasal bridge.