Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
ORPHA:3042Malformation syndromeAutosomal dominantChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)21
HP:0000135Hypogonadism
HP:0000174Abnormal palate morphology
HP:0000238Hydrocephalus
HP:0000400Macrotia
HP:0000405Conductive hearing impairment
HP:0000518Cataract
HP:0001249Intellectual disability
HP:0001288Gait disturbance
HP:0001371Flexion contracture
HP:0001903Anemia
HP:0002376Developmental regression
HP:0002650Scoliosis
HP:0002797Osteolysis
HP:0002808Kyphosis
HP:0003198Myopathy
HP:0003273Hip contracture
HP:0003301Irregular vertebral endplates
HP:0003312Abnormal form of the vertebral bodies
HP:0005103Calcification of the auricular cartilage
HP:0005121Posterior scalloping of vertebral bodies
HP:0012062Bone cyst
Частый (30–79%)12
HP:0000494Downslanted palpebral fissures
HP:0000664Synophrys
HP:0000767Pectus excavatum
HP:0000771Gynecomastia
HP:0000774Narrow chest
HP:0001250Seizure
HP:0001357Plagiocephaly
HP:0001798Anonychia
HP:0002868Narrow iliac wings
HP:0004322Short stature
HP:0008689Bilateral cryptorchidism
HP:0011800Midface retrusion
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 13 | 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)