The most common symptoms are intellectual disability and recurrent seizures developing in infancy or early childhood. Typically the seizures are resistant to treatment with anti-epileptic drugs. Other symptoms may include: * Microcephaly * Lymphedema * Facial abnormalities * Immune deficiencies * Abnormalities of retina * Slow growth * Short stature
Ring chromosome 14 syndrome
Ring chromosome 20 syndrome
Smith Martin Dodd syndrome
Kaufman oculocerebrofacial syndrome
13q deletion syndrome
2q37 deletion syndrome
22q11.2 duplication syndrome
8p23.1 duplication syndrome