Hydranencephaly
ORPHA:2177Malformation syndromeAutosomal recessive, UnknownAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)7
HP:0000618Blindness
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0002120Cerebral cortical atrophy
HP:0008610Infantile sensorineural hearing impairment
HP:0008897Postnatal growth retardation
HP:0010994Abnormal corpus striatum morphology
Частый (30–79%)17
HP:0000601Hypotelorism
HP:0001250Seizure
HP:0001254Lethargy
HP:0001264Spastic diplegia
HP:0001287Meningitis
HP:0002179Opisthotonus
HP:0006698Dilatation of the ventricular cavity
HP:0007023Antenatal intracerebral hemorrhage
HP:0009145Abnormal cerebral artery morphology
HP:0010652Abnormal dura mater morphology
HP:0011328Abnormality of fontanelles
HP:0025040Thalamic edema
HP:0025099Dysgenesis of the thalamus
HP:0025258Stiff neck
HP:0025517Hypoplastic hippocampus
HP:0410279Atrophic pituitary gland
HP:3000062Abnormal internal carotid artery morphology
Периодический (5–29%)4
HP:0000533Chorioretinal atrophy
HP:0000609Optic nerve hypoplasia
HP:0002119Ventriculomegaly
HP:0011451Congenital microcephaly
Эпидемиология4
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | — | Worldwide | Class only |
| Point prevalence | Unknown | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.1 | Japan | Value and class |
| Prevalence at birth | 1-9 / 100 000 | 2.8 | United States | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)