PedAM
Pediatric Disease Annotations & Medicines
| Disease | microcephaly |
| Phenotype | C0025362|mental retardation |
| Sentences | 7 |
| 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- 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- 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- 23687348 | The presence of blepharophimosis and mental retardation, with or without microcephaly and micrognathia, is described in a heterogeneous group of multiple congenital malformation disorders, including dubowitz syndrome (mim 223370), marden–walker syndrome (mim 248700), smith–lemli–opitz syndrome (mim 270400), and ohdo syndrome (mim 249620) and related phenotypes.5 in those conditions, however, individual combinations of congenital anomalies, facial gestalt, and natural history are definitely different from the constellation of features occurring in kos. |
| 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- 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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