Currently recognized symptoms include: * Autism or autistic behaviors * ADHD * Learning disability * Large head * Dysmorphic facial appearance - mild * Prominent forehead * Wide-set eyes (hypertelorism) * Loose joints * GERD * Sleep disturbances * Sleep Apnea * Underdeveloped parts of brain - corpus callosum and cerebellar vermis * Speech & developmental delays * Chiari malformation of the brain * Congenital heart defects * Hypotonia It is not clear whether the list of symptoms is complete. Very little information is known about the syndrome. The symptomology may be different among individuals, even in the same family.
1q21.1 duplication syndrome
13q deletion syndrome
2q37 deletion syndrome
1q21.1 deletion syndrome
22q11.2 duplication syndrome
22q13 deletion syndrome
Chromosome 5q deletion syndrome
22q11.2 distal deletion syndrome