King Denborough syndrome (Q100776): Difference between revisions
From determinar.ia.br - Determine suas informações
Created a new Item |
Changed label, description and/or aliases in pt-br, en |
||
| description / pt-br | description / pt-br | ||
Condição rara caracterizada por suscetibilidade à hipertermia maligna, atraso no desenvolvimento motor, baixa estatura, criptorquidia, anormalidades esqueléticas e características dismórficas variáveis. Herança autossômica dominante com expressividade variável foi relatada em vários casos, embora herança recessiva, mosaicismo ou penetrância altamente variável tenham sido descritos. | |||
| description / en | description / en | ||
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. | |||
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 |
|---|---|---|---|
| default for all languages | ID_1140335303 |
||
| 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. |
