SATB2-associated syndrome due to a pathogenic variant
ORPHA:576283Etiological subtypeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)48
Очень частый (80–99%)4
HP:0000164Abnormality of the dentition
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
Частый (30–79%)26
HP:0000175Cleft palate
HP:0000219Thin upper lip vermilion
HP:0000319Smooth philtrum
HP:0000324Facial asymmetry
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000490Deeply set eye
HP:0000504Abnormality of vision
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0000924Abnormality of the skeletal system
HP:0000938Osteopenia
HP:0001344Absent speech
HP:0002307Drooling
HP:0002342Intellectual disability, moderate
HP:0002360Sleep abnormality
HP:0002500Abnormal cerebral white matter morphology
HP:0007018Attention deficit hyperactivity disorder
HP:0008872Feeding difficulties in infancy
HP:0008897Postnatal growth retardation
HP:0008947Floppy infant
HP:0010864Intellectual disability, severe
HP:0011304Broad thumb
HP:0012448Delayed myelination
HP:0040082Happy demeanor
HP:0410263Brain imaging abnormality
Периодический (5–29%)18
HP:0000193Bifid uvula
HP:0000218High palate
HP:0000486Strabismus
HP:0000951Abnormality of the skin
HP:0001155Abnormality of the hand
HP:0001250Seizure
HP:0001382Joint hypermobility
HP:0001510Growth delay
HP:0001601Laryngomalacia
HP:0001773Short foot
HP:0002015Dysphagia
HP:0002020Gastroesophageal reflux
HP:0002465Poor speech
HP:0002608Celiac disease
HP:0004209Clinodactyly of the 5th finger
HP:0011147Typical absence seizure
HP:0100559Lower limb asymmetry
HP:0100886Abnormality of globe location
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)