eRAM
encyclopedia of Rare Disease Annotation for Precision Medicine
| Disease | hypothyroidism |
| Comorbidity | C0025362|mental retardation |
| Sentences | 3 |
| PubMedID- 20537182 | A mutation in a gene encoding monocarboxylase transporter 8 (mct8) has been reported in five boys as a cause of x-linked hypothyroidism associated with mental retardation and neurologic abnormalities including quadriplegia. |
| PubMedID- 24381310 | Mutations of the thyroid hormone receptor alpha gene (thra) cause hypothyroidism in patients with growth and developmental retardation, and skeletal dysplasia. |
| PubMedID- 26313902 | Summary: although newborn screening has virtually eradicated mental retardation due to congenital hypothyroidism in parts of the world, new information continues to accumulate and new questions to arise about the diagnosis, physiology, and optimal management of this disorder. |
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