SSR4-CDG
ORPHA:370927DiseaseX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Облигатный (100%)5
HP:0000252Microcephaly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0001999Abnormal facial shape
Очень частый (80–99%)11
HP:0000154Wide mouth
HP:0000400Macrotia
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000687Widely spaced teeth
HP:0001508Failure to thrive
HP:0002013Vomiting
HP:0002020Gastroesophageal reflux
HP:0011024Abnormality of the gastrointestinal tract
HP:0011339Abnormality of upper lip vermillion
HP:0011968Feeding difficulties
Частый (30–79%)1
HP:0001250Seizure
Периодический (5–29%)9
HP:0000085Horseshoe kidney
HP:0000924Abnormality of the skeletal system
HP:0001331Absent septum pellucidum
HP:0001373Joint dislocation
HP:0001626Abnormality of the cardiovascular system
HP:0001928Abnormality of coagulation
HP:0002079Hypoplasia of the corpus callosum
HP:0002518Abnormal periventricular white matter morphology
HP:0002650Scoliosis
Очень редкий (1–4%)2
HP:0003256Abnormality of the coagulation cascade
HP:0001643Patent ductus arteriosus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)