Frequent clinical attributes include absent or severely reduced speech and low muscle tone with an abnormal gait and delayed growth that can affect all growth parameters. Several patients have received a diagnosis of autism.
Ophthalmological findings are common and have included congenital or juvenile cataracts, strabismus, and refractive errors.
Facial anomalies comprise widely-spaced and deep-set eyes, a broad nasal bridge and a short nose with a broad tip, low-set ears with anomalous helices, downturned corners of the mouth and an abnormal dentition.
Other features have included pectus deformities, a short neck and minor digital findings with overlapping toes. Imaging of the brain has revealed defects in corpus callosum and cerebellar formation. Renal dysplasia with a multicystic kidney, pelviectasis and a horseshoe kidney have been noted.
INTS1