The clinical features of this disease may include following findings:
Neurologica
• Seizures
The age of onset of seizures is usually within the first 2 years of life.
The most common seizure types are generalized tonic–clonic (GTCS), absence and myoclonic seizures. One of the patients experienced only a single GTCS, although most of the patients reported in the literature have multiple seizure types and episodes. Most of the patients have normal interictal EEG and cranial MRI results. Status epilepticus has also been observed.
• Developmental delay
o Intellectual disability – mild, moderate, severe
o Delayed psychomotor development
o Impaired language development
o Fine motor difficulties with tremors
• Behavioral abnormalities
o Autistic features
o Attention deficit hyperactive disorder
o Anxiety
o Obsessive-compulsive traits
• Coordination
o Ataxia
o Wide-based gait
• Skeletal
o Thoracolumbar kyphoscoliosis
o Scoliosis
• Facial dysmorphism
o Prominent forehead
o Long palpebral fissures
o Bulbous nose
o Absent Cupid’s bow
YWHAG