Congenital sialidosis type 2
ORPHA:93400Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)42
Частый (30–79%)11
HP:0000280Coarse facial features
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000518Cataract
HP:0000943Dysostosis multiplex
HP:0000969Edema
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001433Hepatosplenomegaly
HP:0001541Ascites
HP:0010729Cherry red spot of the macula
Периодический (5–29%)23
HP:0000023Inguinal hernia
HP:0000077Abnormality of the kidney
HP:0000238Hydrocephalus
HP:0000486Strabismus
HP:0000519Developmental cataract
HP:0000572Visual loss
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000967Petechiae
HP:0001009Telangiectasia
HP:0001250Seizure
HP:0001251Ataxia
HP:0001257Spasticity
HP:0001310Dysmetria
HP:0001336Myoclonus
HP:0001537Umbilical hernia
HP:0001627Abnormal heart morphology
HP:0002376Developmental regression
HP:0007750Hypoplasia of the fovea
HP:0007957Corneal opacity
HP:0009891Underdeveloped supraorbital ridges
HP:0011947Respiratory tract infection
HP:0030506Yellow/white lesions of the retina
Очень редкий (1–4%)8
HP:0000212Gingival overgrowth
HP:0000256Macrocephaly
HP:0000348High forehead
HP:0002240Hepatomegaly
HP:0003115Abnormal EKG
HP:0004554Generalized hypertrichosis
HP:0010442Polydactyly
HP:0010808Protruding tongue
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)