The main clinical features include flat occiput, long face, global developmental delay, hypotonia, ataxia, hearing loss, absent corneal reflex, lack of facial mimicry, bilateral agenesis of cranial nerve VIII, cochlear and auditory canals abnormality.
Other features include bilateral agenesis of cranial nerve V, axonal sensory neuropathy, corneal opacity, high arched eyebrows, elongated palpebral fissures, high narrow palate and oromotor dysfunction (chewing and swallowing difficulty).
NEUROG1