King Denborough syndrome (Q100776): Difference between revisions
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Revision as of 17:32, 16 August 2026
Rare condition characterised by a susceptibility to malignant hyperthermia, delayed motor development, short stature, cryptorchidism, skeletal abnormalities, and variable dysmorphic features. Autosomal dominant inheritance with variable expressivity has been reported in several cases, although either recessive inheritance, mosaicism or highly variable penetrance have been described.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1140335303 |
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| English | King Denborough syndrome |
Rare condition characterised by a susceptibility to malignant hyperthermia, delayed motor development, short stature, cryptorchidism, skeletal abnormalities, and variable dysmorphic features. Autosomal dominant inheritance with variable expressivity has been reported in several cases, although either recessive inheritance, mosaicism or highly variable penetrance have been described. |
