Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
ORPHA:457365Malformation syndromeUnknownInfancy, Neonatal
Фенотипы (HPO)24
Частый (30–79%)18
HP:0000160Narrow mouth
HP:0000189Narrow palate
HP:0000426Prominent nasal bridge
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000670Carious teeth
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001324Muscle weakness
HP:0001328Specific learning disability
HP:0001763Pes planus
HP:0001845Overlapping toe
HP:0002352Leukoencephalopathy
HP:0002553Highly arched eyebrow
HP:0002750Delayed skeletal maturation
HP:0003458EMG: myopathic abnormalities
HP:0004322Short stature
HP:0010761Broad columella
Периодический (5–29%)6
HP:0000179Thick lower lip vermilion
HP:0000331Short chin
HP:0000508Ptosis
HP:0000592Blue sclerae
HP:0000602Ophthalmoplegia
HP:0001337Tremor
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)