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| Disease found: | 15q11.2 microdeletion |
| Current as of: | October 8, 2024 |
| Disease Overview: | Random or inherited disorder caused by deletion of a piece of genetic material on long arm of chromosome 15 causing mental and physical development deficits. [more info] |
| Signs and Symptoms: | Mental development deficits (behavior and emotional problems, attention deficit disorders, autism spectrum disorder, schizophrenia) and physical development deficits (motor delay, seizure, mild dysmorphic features) [more info] |
| Diagnosis: | Genetic testing (FISH) or microarrys [more info] |
| Treatment: | Supportive Treatment Only |
| Clinical Management: | Therapy for mental and developmental concerns [more info] |
| Referral: | No specific phsician is specializing in this condition, NORD recommends various Centers for Rare Diseases. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | One clinical trial currently recruiting |