Mosaic Trisomy 14
Description
Mosaic trisomy 14 is a rare chromosomal anomaly disorder, with a highly variable phenotype, principally characterized by growth and developmental delay, intellectual disability, body asymmetry/hypotonia, congenital heart defects, genitourinary abnormalities (cryptorchidism, micropenis, large clitoris, labial swelling), and abnormal skin hyperpigmentation. Patients usually present with craniofacial dysmorphism such as microcephaly, abnormal palpebral fissure, hypertelorism, ear abnormalities, broad nose, low-set ears, micro/retro-gnathia, and cleft or highly arched palate.
Clinical Features
Top most frequent phenotypes and symptoms related to Mosaic Trisomy 14
- Intellectual disability
- Seizures
- Global developmental delay
- Hypertelorism
- Failure to thrive
- Micrognathia
- Cleft palate
- Cryptorchidism
- Ptosis
- High palate
And another 31 symptoms. If you need more information about this disease we can help you.
Incidence and onset information
— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)— No data available about the known clinical features onset.
Alternative names
Mosaic Trisomy 14 Is also known as mosaic trisomy chromosome 14, trisomy 14 mosaicism.
Researches and researchers
Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.Sources and references
You can check the following sources for additional information.
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