AREDYLD syndrome
ORPHA:1133Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)26
Очень частый (80–99%)26
HP:0000358Posteriorly rotated ears
HP:0000069Abnormality of the ureter
HP:0000160Narrow mouth
HP:0000303Mandibular prognathia
HP:0000319Smooth philtrum
HP:0000582Upslanted palpebral fissure
HP:0000682Abnormality of dental enamel
HP:0001156Brachydactyly
HP:0001511Intrauterine growth retardation
HP:0001744Splenomegaly
HP:0002231Sparse body hair
HP:0002240Hepatomegaly
HP:0002644Abnormality of pelvic girdle bone morphology
HP:0002650Scoliosis
HP:0004322Short stature
HP:0004326Cachexia
HP:0004493Craniofacial hyperostosis
HP:0004828Refractory anemia with ringed sideroblasts
HP:0005105Abnormal nasal morphology
HP:0005978Type II diabetes mellitus
HP:0006288Advanced eruption of teeth
HP:0009912Abnormal tragus morphology
HP:0010311Aplasia/Hypoplasia of the breasts
HP:0100578Lipoatrophy
HP:0100651Type I diabetes mellitus
HP:0100840Aplasia/Hypoplasia of the eyebrow
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)