Distal deletion 10p syndrome
ORPHA:1580Clinical groupNot applicable, UnknownChildhood
Фенотипы (HPO)31
Очень частый (80–99%)5
HP:0000028Cryptorchidism
HP:0000431Wide nasal bridge
HP:0000444Convex nasal ridge
HP:0001249Intellectual disability
HP:0011344Severe global developmental delay
Частый (30–79%)16
HP:0000358Posteriorly rotated ears
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000364Hearing abnormality
HP:0000365Hearing impairment
HP:0000400Macrotia
HP:0000470Short neck
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0001511Intrauterine growth retardation
HP:0001800Hypoplastic toenails
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0007598Bilateral single transverse palmar creases
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)10
HP:0000147Polycystic ovaries
HP:0000175Cleft palate
HP:0000465Webbed neck
HP:0001231Abnormal fingernail morphology
HP:0001387Joint stiffness
HP:0002023Anal atresia
HP:0004397Ectopic anus
HP:0008736Hypoplasia of penis
HP:0009811Abnormality of the elbow
HP:0100335Non-midline cleft of the upper lip
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Europe | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)