9q21.13 microdeletion syndrome
ORPHA:531151Malformation syndromeNot applicableChildhood, Infancy
Фенотипы (HPO)24
Очень частый (80–99%)5
HP:0000028Cryptorchidism
HP:0000126Hydronephrosis
HP:0001288Gait disturbance
HP:0001627Abnormal heart morphology
HP:0002579Gastrointestinal dysmotility
Частый (30–79%)13
HP:0000508Ptosis
HP:0000637Long palpebral fissure
HP:0000750Delayed speech and language development
HP:0001385Hip dysplasia
HP:0001883Talipes
HP:0002650Scoliosis
HP:0002714Downturned corners of mouth
HP:0003186Inverted nipples
HP:0003422Vertebral segmentation defect
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008897Postnatal growth retardation
HP:0012811Wide nasal ridge
HP:0030809Abnormal tongue morphology
Периодический (5–29%)6
HP:0000729Autistic behavior
HP:0001250Seizure
HP:0001363Craniosynostosis
HP:0002282Gray matter heterotopia
HP:0003396Syringomyelia
HP:0010442Polydactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)