Distal deletion 9p syndrome
ORPHA:1642Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)27
Очень частый (80–99%)15
HP:0000358Posteriorly rotated ears
HP:0003196Short nose
HP:0008551Microtia
HP:0009738Abnormality of the antihelix
HP:0011800Midface retrusion
HP:0000243Trigonocephaly
HP:0000316Hypertelorism
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000520Proptosis
HP:0000582Upslanted palpebral fissure
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0002705High, narrow palate
Частый (30–79%)10
HP:0000047Hypospadias
HP:0000059Hypoplastic labia majora
HP:0000164Abnormality of the dentition
HP:0000286Epicanthus
HP:0001156Brachydactyly
HP:0006610Wide intermamillary distance
HP:0009906Aplasia/Hypoplasia of the earlobes
HP:0011039Abnormality of the helix
HP:0100625Enlarged thorax
HP:0100790Hernia
Периодический (5–29%)2
HP:0000175Cleft palate
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 89 | 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)