Maternal uniparental disomy of chromosome 9 syndrome
ORPHA:96183Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)21
Очень частый (80–99%)19
HP:0000276Long face
HP:0000324Facial asymmetry
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000470Short neck
HP:0000545Myopia
HP:0001263Global developmental delay
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001558Decreased fetal movement
HP:0001795Hyperconvex nail
HP:0002546Incomprehensible speech
HP:0002751Kyphoscoliosis
HP:0002999Patellar dislocation
HP:0003070Elbow ankylosis
HP:0003089Hamstring contractures
HP:0003468Abnormal vertebral morphology
HP:0011968Feeding difficulties
HP:0040188Osteochondrosis
Периодический (5–29%)2
HP:0000851Congenital hypothyroidism
HP:0007973Retinal dysplasia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)