Severe X-linked intellectual disability, Gustavson type
ORPHA:3078Malformation syndromeX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)34
Очень частый (80–99%)6
HP:0000252Microcephaly
HP:0000648Optic atrophy
HP:0001250Seizure
HP:0001276Hypertonia
HP:0008850Severe postnatal growth retardation
HP:0012715Profound hearing impairment
Частый (30–79%)10
HP:0000618Blindness
HP:0001257Spasticity
HP:0001518Small for gestational age
HP:0002198Dilated fourth ventricle
HP:0002788Recurrent upper respiratory tract infections
HP:0005486Small fontanelle
HP:0005949Apneic episodes in infancy
HP:0010864Intellectual disability, severe
HP:0012444Brain atrophy
HP:0040288Nasogastric tube feeding
Периодический (5–29%)18
HP:0000076Vesicoureteral reflux
HP:0000239Large fontanelles
HP:0000347Micrognathia
HP:0000377Abnormal pinna morphology
HP:0000400Macrotia
HP:0001199Triphalangeal thumb
HP:0001305Dandy-Walker malformation
HP:0001321Cerebellar hypoplasia
HP:0001336Myoclonus
HP:0001374Congenital hip dislocation
HP:0001629Ventricular septal defect
HP:0001838Rocker bottom foot
HP:0001848Calcaneovalgus deformity
HP:0003196Short nose
HP:0005781Contractures of the large joints
HP:0006829Severe muscular hypotonia
HP:0006956Dilation of lateral ventricles
HP:0008110Equinovarus deformity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)