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| Disease found: | 15q13.3 microdeletion syndrome |
| Current as of: | Thu Nov 21 2024 |
| Disease Overview: | Random or autosomal dominant disorder caused by deletion of at least 7 genes on long arm of chromosome 15 causing mental and physical development deficits [more info] |
| Signs and Symptoms: | Mental development deficits (mild to moderate intellectual disabilities, learning delays, or normal intelligence; autism spectrum disorders; and mental illness such as schizophrenia or bipolar disorder) and physical development deficits (Epilepsy and various, non-consistent dysmorphic physical features) [more info] |
| Diagnosis: | Genetic testing (FISH), multiplex ligation-dependent probe amplification (MLPA) and array-based comparative genomic hybridization (aCGH). [more info] |
| Treatment: | Epilepsy is treated with anti-seizure medication (ASM). [more info] |
| Clinical Management: | Early intervention for mental and developmental concerns [more info] |
| Referral: | No specific physician specializes in this condition but NORD recommends doctors who specialize in epilepsy. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | Clinical trials currently recruiting |