Symptoms include: * intellectual disability (more than half of the patients have an IQ below 50) * microcephaly * sometimes pancytopenia (low blood counts) * cryptorchidism in males * low birth weight * dislocations of pelvis and elbow * unusually large eyes * blindness or visual impairment * large, low-set ears * small chin due to receded lower jaw
Seckel syndrome
Meckel–Gruber syndrome
Familial multiple intestinal atresia
Ackerman syndrome
Van Gogh syndrome
Hartnup disease
Silver–Russell syndrome
Scheuermann's disease