Paternal uniparental disomy of chromosome 5 syndrome
ORPHA:96190Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)13
Очень частый (80–99%)13
HP:0000075Renal duplication
HP:0001090Abnormally large globe
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0001561Polyhydramnios
HP:0001684Secundum atrial septal defect
HP:0002654Multiple epiphyseal dysplasia
HP:0002751Kyphoscoliosis
HP:0004991Rhizomelic arm shortening
HP:0006385Short lower limbs
HP:0010593Abnormality of fibular epiphyses
HP:0011327Posterior plagiocephaly
HP:0100753Schizophrenia
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)