Skip to main content
. 2018 Mar 5;13:39. doi: 10.1186/s13023-018-0778-6

Table 3.

Distribution of the most frequently reported extracutaneous manifestations in 367 patients (56%)

Developmental delay 198
Skeletal deformities 140
Seizures, epilepsy and/or abnormal EEG 137
Dysmorphic facial features 114
Psychomotor retardation 57