21q22.11q22.12 microdeletion syndrome
Your Results
Sign InDescription
A rare genetic chromosomal anomaly syndrome resulting from a partial deletion of the long arm of chromosome 21. The disease has characteristics of pre and post-natal growth delay, short stature, intellectual disability, developmental delay with severe language impairment, thrombocytopenia and craniofacial dysmorphism which may include microcephaly, downslanted palpebral fissures, low-set ears, broad nose, thin upper vermillion and downturned corners of the mouth. Brain MRI abnormalities (such as agenesis of the corpus callosum) behavioural problems and seizures may be associated.
Mode of Inheritance
VARIANTS
0