Neurological features:
• global developmental delay, intellectual disability (mainly mild and moderate)
• abnormal muscle tone: truncal muscular hypotonia and/or spasticity of the upper and lower limbs
• movement disorders: dystonia, brady-/hypokinesia, ataxia, diagnosis of cerebral palsy in some patients
• autism spectrum disorder , attention deficit–hyperactivity disorder, aggressive behavior, anxiety
• seizures
• brain MRI: hypoplasia of the inferior part of the cerebellar vermis
Additional findings:
• facial dysmorphism: round face, broad nasal bridge, epicanthal folds, hypertelorism, prominent forehead, coarse facial features, abnormal dentition, set and/or posteriorly rotated ears, preauricular tags
• macrocephaly
• short stature
• gastrointestinal problems: constipation, gastroesophageal reflux disease, vomiting
• urinary symptoms: urinary retention, hydronephrosis, pyeloureteral junction stenosis
• conductive and/or sensorineural hearing loss
• skeletal features: pes planus, plagiocephaly, pectus carinatum, clinodactyly, tapered and slender fingers
MSL3