Sandhoff disease, infantile form
ORPHA:309155Clinical subtypeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)23
Облигатный (100%)1
HP:0033978Reduced beta-hexosaminidase activity
Очень частый (80–99%)5
HP:0001250Seizure
HP:0001347Hyperreflexia
HP:0002376Developmental regression
HP:0008936Axial hypotonia
HP:0012758Neurodevelopmental delay
Частый (30–79%)11
HP:0001257Spasticity
HP:0001336Myoclonus
HP:0002069Bilateral tonic-clonic seizure
HP:0002120Cerebral cortical atrophy
HP:0002267Exaggerated startle response
HP:0003429CNS hypomyelination
HP:0004481Progressive macrocephaly
HP:0007083Hyperactive patellar reflex
HP:0010729Cherry red spot of the macula
HP:0012696Abnormal thalamic MRI signal intensity
HP:0032794Myoclonic seizure
Периодический (5–29%)5
HP:0000280Coarse facial features
HP:0001433Hepatosplenomegaly
HP:0001653Mitral regurgitation
HP:0010780Hyperacusis
HP:0100814Blue nevus
Очень редкий (1–4%)1
HP:0001634Mitral valve prolapse
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)