PedAM
Pediatric Disease Annotations & Medicines
| Disease | hypotonia |
| Phenotype | C0025362|mental retardation |
| Sentences | 3 |
| PubMedID- 24058414 | Furthermore, haploinsufficiency of mef2c also results in a form of severe mental retardation, with absent speech, hypotonia and epilepsy [49,50]. |
| PubMedID- 20052369 | The phenotype progressed and they all currently showed severe dysarthria, contractures of both ankle and wrist, both knee contractures, spasticity in both lower extremity, spinal scoliosis, dystonic hands, and generalized hypotonia, retropulsion, with mild mental retardation. |
| PubMedID- 21326285 | Xq28 duplications including mecp2 are a well-known cause of severe mental retardation in males with seizures, muscular hypotonia, progressive spasticity, poor speech and recurrent infections that often lead to early death. |
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