eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | c syndrome |
| Comorbidity | C0025362|mental retardation |
| Sentences | 5 |
| PubMedID- 24531606 | Deletion of the short arm of chromosome 18 is a rare syndrome clinically presenting with variable mental retardation, growth retardation, low height, pectus excavatum, craniofacial malformations including long ear, ptosis, microcephaly and short neck. |
| PubMedID- 23815237 | Lenz microphthalmia syndrome comprises microphthalmia-anophthalmia with mental retardation, malformed ears and skeletal anomalies, and is inherited in an x-linked recessive pattern. |
| PubMedID- 22826540 | The genetalk community finds this annotation trustworthy and rates the described mutation as highly likely to cause a syndrome called hyperphosphatasia with mental retardation. |
| PubMedID- 21595885 | A very rare form of congenital neutropenia, this autosomal recessive syndrome associates mental retardation with a dysmorphic syndrome that includes microcephaly, facial abnormalities (moon face), myopia, pigmentary retinitis, trunk obesity, and ligament hyperlaxity [72]. |
| PubMedID- 20559145 | Electroconvulsive therapy turned out to be a powerful tool for treating catatonic syndromes in patients with mental retardation and should be considered as a potent treatment option in otherwise therapy-resistant cases. |
Page: 1