All identified patients (7/7) have been diagnosed with autism and mild to severe DD/ID. One patient is also affected with pica disorder, automutilation, and high pain threshold. Other neurological findings are ritualistic or repetitive behaviors (3/7), possible speech regression (2/7), dystonia or hypotonia (2/7).
Concerning dysmorphic features, 5/7 patients have been reported with upward slanting palpebral fissures, slight ectropion, prominent forehead with frontal upsweep, high anterior hairline, downslanting corners of the mouth, anteverted nares, bilateral epicanthus, mild hypertelorism, downslanting palpebral fissures, full lips, Darwin tuberculum on both ears, fetal pads, sandal gaps, prominent forehead, flat face, full eyebrows, epicanthal folds, long fingers with mild clinodactyly 5th fingers and/or normal feet with sandal gaps. No dysmorphisms were identified in 2/7 patients.
Growth was found to be normal in all individuals.
NPTN