Paternal uniparental disomy of chromosome 6 syndrome
ORPHA:96191Malformation syndromeAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)30
Очень частый (80–99%)26
HP:0000028Cryptorchidism
HP:0000065Labial hypertrophy
HP:0000158Macroglossia
HP:0000212Gingival overgrowth
HP:0000218High palate
HP:0000237Small anterior fontanelle
HP:0000269Prominent occiput
HP:0000271Abnormality of the face
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000363Abnormality of earlobe
HP:0000448Prominent nose
HP:0000586Shallow orbits
HP:0000826Precocious puberty
HP:0000857Neonatal insulin-dependent diabetes mellitus
HP:0001511Intrauterine growth retardation
HP:0001537Umbilical hernia
HP:0001562Oligohydramnios
HP:0001629Ventricular septal defect
HP:0001640Cardiomegaly
HP:0001804Hypoplastic fingernail
HP:0001944Dehydration
HP:0002123Generalized myoclonic seizure
HP:0002240Hepatomegaly
HP:0002643Neonatal respiratory distress
HP:0008897Postnatal growth retardation
Периодический (5–29%)4
HP:0001382Joint hypermobility
HP:0001643Patent ductus arteriosus
HP:0010866Abdominal wall defect
HP:0100767Abnormality of the placenta
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)