MSL3

Clinical Characteristics

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