Presentation
[…] disability-hypotonia-recurrent Infections syndrome Prevalence: - Inheritance: - Age of onset: - ICD-10: Q87.8 OMIM: 300260 UMLS: C1846058 MeSH: C537723 GARD: - MedDRA: - Summary This disease has been moved to Trisomy Xq28 The documents contained in this web site are presented [orpha.net]
Neurologic
- Chorea
[…] musculoskeletal system Axial hypotonia Brachycephaly Facial hypotonia Hypotonia Infantile muscular hypotonia Macrocephaly Malar flattening Microcephaly Rigidity Abnormality of the nervous system Absent speech Anxiety Autistic behavior Bruxism Cerebellar ataxia Chorea [ncbi.nlm.nih.gov]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]