Isolated exencephaly
ORPHA:563612Clinical subtypeAntenatal
Ассоциированные гены2
Фенотипы (HPO)16
Частый (30–79%)9
HP:0000520Proptosis
HP:0000929Abnormal skull morphology
HP:0001274Agenesis of corpus callosum
HP:0001360Holoprosencephaly
HP:0001561Polyhydramnios
HP:0002683Abnormality of the calvaria
HP:0005466Hypoplasia of the frontal bone
HP:0007360Aplasia/Hypoplasia of the cerebellum
HP:0012443Abnormality of brain morphology
Периодический (5–29%)7
HP:0000369Low-set ears
HP:0005280Depressed nasal bridge
HP:0009800Maternal diabetes
HP:0010627Anterior pituitary hypoplasia
HP:0011756Posterior pituitary agenesis
HP:0011821Abnormality of facial skeleton
HP:0030244Maternal fever in pregnancy
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)