X-linked cerebral-cerebellar-coloboma syndrome
ORPHA:163961DiseaseX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)31
Частый (30–79%)15
HP:0000238Hydrocephalus
HP:0000369Low-set ears
HP:0000567Chorioretinal coloboma
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001320Cerebellar vermis hypoplasia
HP:0002119Ventriculomegaly
HP:0002363Abnormal brainstem morphology
HP:0002538Abnormality of the cerebral cortex
HP:0002876Episodic tachypnea
HP:0005949Apneic episodes in infancy
HP:0008947Floppy infant
HP:0011968Feeding difficulties
HP:0040288Nasogastric tube feeding
Периодический (5–29%)16
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0001284Areflexia
HP:0001305Dandy-Walker malformation
HP:0002007Frontal bossing
HP:0002015Dysphagia
HP:0002033Poor suck
HP:0002245Meckel diverticulum
HP:0002335Agenesis of cerebellar vermis
HP:0003196Short nose
HP:0005815Supernumerary ribs
HP:0007738Uncontrolled eye movements
HP:0007965Undetectable visual evoked potentials
HP:0009928Thick nasal alae
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 3 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)