PedAM
Pediatric Disease Annotations & Medicines
| Disease | hypotonia |
| Phenotype | C0017567|gingival hypertrophy |
| Sentences | 2 |
| PubMedID- 24698225 | Coarse facial features and gingival hypertrophy, associated with axial hypotonia, upper airway obstruction, and moderate hepatomegaly, led to the early diagnosis of mps i at 3 weeks of age and was confirmed by an abnormally elevated amount of dermatan and heparan sulphate in the urine and complete deficiency of alpha-l-iduronidase lysosomal enzyme activity. |
| PubMedID- 21234408 | In mannosidosis, gingival hypertrophy was associated with deafness, muscle hypotonia, craniofacial dysmorphism, mental retardation, and immunoglobulin deficiency [13]. |
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