Genetic Disorders with Psychiatric Phenotypes

Some genetic disorders can cause psychiatric phenotypes in a proband, even in the absence of a family history. Genetic disorders that may have psychiatric manifestations (although generally in a small subset of patients) include:

• Velocardiofacial disorder (22q deletion)
• Homocystinuria
• Metachromatic leukodystrophy, late-onset
• Coproporphyria
• Acute intermittent porphyria
• Wolfram syndrome
• Fragile X Syndrome.pdf

This list is not intended to be comprehensive, and does not include disorders that cause severe phenotypes in childhood (for instance Rett, Prader-Willi, and Smith-Magenis syndromes), as those individuals likely will not be ascertained through psychiatric features.