PedAM
Pediatric Disease Annotations & Medicines
| Disease | n syndrome |
| Phenotype | C0025958|microcephaly |
| Sentences | 5 |
| PubMedID- 22558107 | The activity of the mglur pathway is regulated by several pathway components responsible for syndromic asds (indicated by asterisks), including nf1 (neurofibromatosis type 1), ras/erk cascade members (cardiofaciocutaneous/noonan syndromes), pten (asd with microcephaly), tsc1 and tsc2 (tuberous sclerosis complex), fmrp (fragile x mental retardation syndrome), and ube3a (angelman's syndrome). |
| PubMedID- 21633703 | We suggest that a defective chromosome segregation mechanism is responsible for the development of microcephaly in angelman syndrome. |
| PubMedID- 25424989 | This gene is frequently involved in 1q44 deletion syndrome in patients with microcephaly, intellectual disability, and dysmorphic features. |
| PubMedID- 26238961 | We identified a deleted region of 496 kb by whole genome array cgh in a patient who fulfilled criteria for 2q37 microdeletion syndrome with developmental delay, microcephaly, hypoplasia of the corpus callosum, hand wringing, toe walking, and seizures. |
| PubMedID- 26257835 | In addition to microcephaly, other manifestations of chromosome 3pter-p25 deletion syndrome also exist in one or two of our patients, such as high-arched palate, second and third toe syndactyly, fifth finger clinodactyly, ptosis, joint laxity. |
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