Trisomy 9p syndrome
ORPHA:236Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)27
Очень частый (80–99%)15
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000400Macrotia
HP:0000411Protruding ear
HP:0000470Short neck
HP:0000490Deeply set eye
HP:0000615Abnormal pupil morphology
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001800Hypoplastic toenails
HP:0001804Hypoplastic fingernail
HP:0002714Downturned corners of mouth
HP:0005105Abnormal nasal morphology
HP:0006610Wide intermamillary distance
HP:0007477Abnormal dermatoglyphics
Частый (30–79%)11
HP:0000316Hypertelorism
HP:0000494Downslanted palpebral fissures
HP:0000678Dental crowding
HP:0000960Sacral dimple
HP:0001156Brachydactyly
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0004209Clinodactyly of the 5th finger
HP:0007598Bilateral single transverse palmar creases
HP:0011079Impacted tooth
HP:0100798Fingernail dysplasia
Периодический (5–29%)1
HP:0100335Non-midline cleft of the upper lip
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 150 | 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)