Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
ORPHA:3145DiseaseInfancy
Фенотипы (HPO)15
Очень частый (80–99%)13
HP:0000347Micrognathia
HP:0000494Downslanted palpebral fissures
HP:0000670Carious teeth
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001376Limitation of joint mobility
HP:0001939Abnormality of metabolism/homeostasis
HP:0002514Cerebral calcification
HP:0004322Short stature
HP:0009738Abnormality of the antihelix
HP:0009806Nephrogenic diabetes insipidus
HP:0010669Hypoplasia of the zygomatic bone
HP:0011069Supernumerary tooth
Частый (30–79%)2
HP:0000405Conductive hearing impairment
HP:0000823Delayed puberty
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 19 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)