Microtriplication 11q24.1 syndrome
ORPHA:289522Malformation syndromeChildhood
Фенотипы (HPO)39
Очень частый (80–99%)31
HP:0000280Coarse facial features
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000322Short philtrum
HP:0000358Posteriorly rotated ears
HP:0000445Wide nose
HP:0000527Long eyelashes
HP:0000563Keratoconus
HP:0000574Thick eyebrow
HP:0000582Upslanted palpebral fissure
HP:0000664Synophrys
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001373Joint dislocation
HP:0001376Limitation of joint mobility
HP:0001513Obesity
HP:0001762Talipes equinovarus
HP:0001773Short foot
HP:0001840Metatarsus adductus
HP:0001999Abnormal facial shape
HP:0002487Hyperkinetic movements
HP:0002857Genu valgum
HP:0003077Hyperlipidemia
HP:0003763Bruxism
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0006316Irregularly spaced teeth
HP:0009907Attached earlobe
HP:0011098Speech apraxia
HP:0011822Broad chin
HP:0200055Small hand
Частый (30–79%)7
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000365Hearing impairment
HP:0000470Short neck
HP:0001290Generalized hypotonia
HP:0002650Scoliosis
HP:0006951Retrocerebellar cyst
Исключён (0%)1
HP:0001250Seizure
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)