These include * Severe pre- and postnatal growth retardation * Microcephaly * Intellectual disability * Dysmorphic features * Small and elongated face * Narrow bifrontal diameter * Prominent cheeks * Small nares * Flat philtrum * Relatively large mouth * Bilateral epicanthal folds * High arched palate * Microretrognathism * Coloboma of the optic disc * Strabismus * Cup-shaped ears * Sensorineural deafness * Short neck * Jugular hypoplasia * Cardiac features * Ventricular septal defect * Tetralogy of Fallot * Sketelal features * Clinodactyly of the fifth fingers * Syndactyly of the second and third toes * Small thumbs * Small fibulae * Others * Abnormal skin pigmentation * Single palmar crease
Warsaw breakage syndrome
Nijmegen breakage syndrome
22q13 deletion syndrome
1p36 deletion syndrome
Chromosome instability syndrome
9q34 deletion syndrome
13q deletion syndrome
2q37 deletion syndrome