SIN3-related intellectual disability syndrome due to a point mutation
ORPHA:500166Etiological subtypeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)20
Очень частый (80–99%)3
HP:0001256Intellectual disability, mild
HP:0001999Abnormal facial shape
HP:0410263Brain imaging abnormality
Частый (30–79%)7
HP:0000365Hearing impairment
HP:0000729Autistic behavior
HP:0000924Abnormality of the skeletal system
HP:0001382Joint hypermobility
HP:0002119Ventriculomegaly
HP:0032059Mild malformation of cortical development
HP:0040195Decreased head circumference
Периодический (5–29%)10
HP:0000164Abnormality of the dentition
HP:0000722Compulsive behaviors
HP:0000736Short attention span
HP:0001250Seizure
HP:0001808Fragile nails
HP:0002213Fine hair
HP:0002500Abnormal cerebral white matter morphology
HP:0002750Delayed skeletal maturation
HP:0006989Dysplastic corpus callosum
HP:0030084Clinodactyly
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)