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| Disease found: | 19p13.12 microdeletion syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | A 19p13.12 microdeletion is a very rare genetic condition, in which there is a tiny piece from the region known as p13.12, on chromosome 19. [more info] |
| Signs and Symptoms: | Physical structure abnormalities (Anteverted nares, Arrhythmia, Atrial septal defect, Brachycephaly, Broad forehead, Clinodactyly of the 5th finger), speech development delay, and seizures [more info] |
| Diagnosis: | Microarray comparative genomic hybridisation (array CGH) and FISH used for diagnosis [more info] |
| Treatment: | ASM are used to treat seizures [more info] |
| Clinical Management: | ASM, therapy, and sometimes surgical interventions can be used for long term management [more info] |
| Referral: | No specific physicians specialize in this condition but NORD recommends various rare disease clinics. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health. |
| Clinical Trials: | One clinical study going on now, register here |