Juvenile sialidosis type 2
ORPHA:93399Clinical subtypeAutosomal recessiveAdolescent
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)4
HP:0000280Coarse facial features
HP:0000943Dysostosis multiplex
HP:0001263Global developmental delay
HP:0003271Visceromegaly
Частый (30–79%)5
HP:0000365Hearing impairment
HP:0000518Cataract
HP:0001250Seizure
HP:0008947Floppy infant
HP:0010729Cherry red spot of the macula
Периодический (5–29%)28
HP:0000023Inguinal hernia
HP:0000077Abnormality of the kidney
HP:0000212Gingival overgrowth
HP:0000369Low-set ears
HP:0000486Strabismus
HP:0000572Visual loss
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001270Motor delay
HP:0001310Dysmetria
HP:0001336Myoclonus
HP:0001433Hepatosplenomegaly
HP:0001537Umbilical hernia
HP:0001618Dysphonia
HP:0001627Abnormal heart morphology
HP:0002015Dysphagia
HP:0002061Lower limb spasticity
HP:0002086Abnormality of the respiratory system
HP:0002123Generalized myoclonic seizure
HP:0002240Hepatomegaly
HP:0002505Loss of ambulation
HP:0003312Abnormal form of the vertebral bodies
HP:0004554Generalized hypertrichosis
HP:0007957Corneal opacity
HP:0009891Underdeveloped supraorbital ridges
HP:0010808Protruding tongue
Очень редкий (1–4%)1
HP:0010864Intellectual disability, severe
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)