Distal duplication 5q syndrome
ORPHA:96097Malformation syndromeNeonatal
Фенотипы (HPO)30
Очень частый (80–99%)2
HP:0000252Microcephaly
HP:0004322Short stature
Частый (30–79%)23
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000160Narrow mouth
HP:0000233Thin vermilion border
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000400Macrotia
HP:0000426Prominent nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000670Carious teeth
HP:0000750Delayed speech and language development
HP:0001156Brachydactyly
HP:0001363Craniosynostosis
HP:0001629Ventricular septal defect
HP:0002342Intellectual disability, moderate
HP:0002984Hypoplasia of the radius
HP:0003022Hypoplasia of the ulna
HP:0003196Short nose
HP:0012368Flat face
HP:0100790Hernia
Периодический (5–29%)5
HP:0000567Chorioretinal coloboma
HP:0000964Eczematoid dermatitis
HP:0001651Dextrocardia
HP:0009777Absent thumb
HP:0011466Aplasia/Hypoplasia of the gallbladder
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)