Distal deletion 19p syndrome
ORPHA:96129Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)23
Очень частый (80–99%)23
HP:0000175Cleft palate
HP:0000276Long face
HP:0000322Short philtrum
HP:0000327Hypoplasia of the maxilla
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000574Thick eyebrow
HP:0001166Arachnodactyly
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001537Umbilical hernia
HP:0001596Alopecia
HP:0001629Ventricular septal defect
HP:0001704Tricuspid valve prolapse
HP:0004313Decreased circulating antibody level
HP:0010511Long toe
HP:0010562Keloids
HP:0010882Pulmonary valve atresia
HP:0100672Vaginal hernia
HP:0001382Joint hypermobility
HP:0000358Posteriorly rotated ears
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)