Intellectual disability-myopathy-short stature-endocrine defect syndrome
ORPHA:3068DiseaseNeonatal
Фенотипы (HPO)30
Очень частый (80–99%)19
HP:0000044Hypogonadotropic hypogonadism
HP:0000174Abnormal palate morphology
HP:0000316Hypertelorism
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000545Myopia
HP:0000597Ophthalmoparesis
HP:0001519Disproportionate tall stature
HP:0002231Sparse body hair
HP:0002750Delayed skeletal maturation
HP:0003202Skeletal muscle atrophy
HP:0003307Hyperlordosis
HP:0004209Clinodactyly of the 5th finger
HP:0004303Abnormal muscle fiber morphology
HP:0004322Short stature
HP:0004493Craniofacial hyperostosis
HP:0008736Hypoplasia of penis
HP:0010628Facial palsy
HP:0010864Intellectual disability, severe
Частый (30–79%)5
HP:0000252Microcephaly
HP:0000411Protruding ear
HP:0000426Prominent nasal bridge
HP:0001376Limitation of joint mobility
HP:0003272Abnormality of the hip bone
Периодический (5–29%)6
HP:0000324Facial asymmetry
HP:0000377Abnormal pinna morphology
HP:0000768Pectus carinatum
HP:0000772Abnormal rib morphology
HP:0002575Tracheoesophageal fistula
HP:0030680Abnormal cardiovascular system morphology
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)