Very frequent
- Anomalies of ear and hearing
- Antitragus abnormal
- Camptodactyly of some fingers
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Clinodactyly of fifth finger
- Cortical atrophy without hydrocephaly / cerebral hemiatrophy / subcortical atrophy
- Dilated cerebral ventricles without hydrocephaly
- Dysplastic / thick / grooved fingernails
- EEG anomalies
- Fine hair
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Hearing loss / hypoacusia / deafness
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Long philtrum
- Long / large / bulbous nose
- Macrostomia / big mouth
- Metacarpal anomalies / Archibald's sign
- Microcephaly
- Movement disorder
- Seizures / epilepsy / absences / spasms / status epilepticus
- Thick lips
- Thin / hypoplastic ala nasi
- Urinary / renal lithiasis / kidney stones / nephritic colic