| Main clinical features
|
developmental disabilities, macrocephaly, and dysmorphic features
neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases
hypertelorism, arched eyebrows, prominent eyes or proptosis, ptosis, epicanthal folds, broad nasal tip, long face, retrognathia, also atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures |