eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | microcephaly |
| Comorbidity | C0025362|mental retardation |
| Sentences | 6 |
| PubMedID- 26179630 | We present herein the case of a 32-year-old japanese man with mental retardation due to microcephaly who presented with advanced tongue cancer. |
| PubMedID- 23049588 | Glut1 deficiency syndrome is characterized by an infantile-onset epileptic encephalopathy, mental retardation, deceleration of head growth, acquired microcephaly, incoordination, and spasticity. |
| PubMedID- 22258528 | However, in one patient with severe mental retardation, lack of speech, microcephaly, cheilognathopalatoschisis and bilateral hearing loss, we discovered a second smaller deletion, inherited from the other healthy parent, resulting in loss of both alleles of the highly conserved heat shock factor binding protein 1 (hsbp1) gene. |
| PubMedID- 20420029 | The syndrome (omim 210600) is a form of primordial dwarfism, characterized by severe intrauterine growth restriction, postnatal dwarfism, severe microcephaly with variable mental retardation, facial anomalies and skeletal abnormalities. |
| PubMedID- 21423666 | Deficiency of phgdh (phosphoglycerate dehydrogenase, commonly down-regulated in ywhae and dcx mutants) leads to mental retardation associated with microcephaly and seizures (mim: 601815, [36]). |
| PubMedID- 22479190 | The overall structure or architecture of the brain may or may not be affected, but in each case microcephaly is strongly associated with mental retardation [9]. |
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