PedAM
Pediatric Disease Annotations & Medicines
| Disease | ataxia |
| Phenotype | C0025362|mental retardation |
| Sentences | 8 |
| PubMedID- 24575028 | Our family phenotype included nonprogressive ataxia with ch, mental retardation, epilepsy, and mild facial anomalies. |
| PubMedID- 24369382 | The tumour suppressor gene wwox is mutated in autosomal recessive cerebellar ataxia with epilepsy and mental retardation. |
| PubMedID- 22973972 | Background: dysequilibrium syndrome is a genetically heterogeneous condition that combines autosomal recessive, nonprogressive cerebellar ataxia with mental retardation. |
| PubMedID- 25173816 | Dysequilibrium syndrome (des, omim 224050) is a genetically heterogeneous condition that combines autosomal recessive non-progressive cerebellar ataxia with mental retardation. |
| PubMedID- 25070513 | Tmem240 mutations cause spinocerebellar ataxia 21 with mental retardation and severe cognitive impairment. |
| PubMedID- 22830052 | Angelman syndrome (as) is a neurodevelopmental disorder characterized by severe mental retardation, lack of speech, ataxia, susceptibility to seizures, and unique behavioral features such as easily provoked smiling and laughter and autistic features. |
| PubMedID- 25395808 | General features: as is characterized by severe mental retardation, lack of speech, eeg abnormalities, ataxia and stiff, atactic gait, developmental delay, aggressive behaviors, prolonged episodes of inappropriate laughter and episodes of seizures. |
| PubMedID- 20531441 | Camos (cerebellar ataxia with mental retardation, optic atrophy and skin abnormalities) is a rare autosomal recessive syndrome characterized by a nonprogressive congenital cerebellar ataxia associated with mental retardation, optic atrophy, and skin abnormalities. |
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