Distal duplication 17q syndrome
ORPHA:3379Malformation syndromeNeonatal
Фенотипы (HPO)42
Очень частый (80–99%)2
HP:0001263Global developmental delay
HP:0010864Intellectual disability, severe
Частый (30–79%)27
HP:0000028Cryptorchidism
HP:0000076Vesicoureteral reflux
HP:0000154Wide mouth
HP:0000175Cleft palate
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000347Micrognathia
HP:0000581Blepharophimosis
HP:0000768Pectus carinatum
HP:0001161Hand polydactyly
HP:0001761Pes cavus
HP:0001822Hallux valgus
HP:0002000Short columella
HP:0002007Frontal bossing
HP:0002162Low posterior hairline
HP:0002572Episodic vomiting
HP:0002857Genu valgum
HP:0003510Severe short stature
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0008905Rhizomelia
HP:0009911Abnormal temporal bone morphology
HP:0000358Posteriorly rotated ears
Периодический (5–29%)13
HP:0000075Renal duplication
HP:0000411Protruding ear
HP:0000752Hyperactivity
HP:0001166Arachnodactyly
HP:0001250Seizure
HP:0001321Cerebellar hypoplasia
HP:0001627Abnormal heart morphology
HP:0001747Accessory spleen
HP:0001845Overlapping toe
HP:0002650Scoliosis
HP:0006897Abducens palsy
HP:0008619Bilateral sensorineural hearing impairment
HP:0001382Joint hypermobility
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)