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Toluene embryopathy

ORPHA:1920Malformation syndromeNot applicableAntenatal, Neonatal

Фенотипы (22)

Очень частый (80–99%)11
HP:0000252Microcephaly
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0001182Tapered finger
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001347Hyperreflexia
HP:0002167Abnormality of speech or vocalization
HP:0004322Short stature
HP:0004422Biparietal narrowing
Частый (30–79%)9
HP:0000028Cryptorchidism
HP:0000126Hydronephrosis
HP:0000286Epicanthus
HP:0000319Smooth philtrum
HP:0003196Short nose
HP:0007477Abnormal dermatoglyphics
HP:0010669Hypoplasia of the zygomatic bone
HP:0012745Short palpebral fissure
HP:0100542Abnormal localization of kidney
Периодический (5–29%)2
HP:0000233Thin vermilion border
HP:0000486Strabismus

Эпидемиология (1)

Point prevalence
Unknown
Worldwide

Лекарства и терапия

Источник: Open Targets Platform (в реальном времени)

Клинические исследования

Источник: ClinicalTrials.gov (в реальном времени)

Внешние ресурсы