Низькорослість, зумовлена частковим дефіцитом GHR
ORPHA:314802· ICD-10 E34.3· Short stature due to partial GHR deficiency
Визначення(English summary)
Short stature due to partial GHR deficiency is a rare, genetic, endocrine disease characterized by idiopathic short stature due to diminished GHR function (decreased ligand binding or reduced availability of receptor), thus resulting in partial insensitivity to growth hormone.
- Поширеність
- Unknown
- Успадкування
- Unknown
- Вік початку
- Childhood