Maternal uniparental disomy of chromosome 2 syndrome
ORPHA:96179Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)28
Очень частый (80–99%)3
HP:0001511Intrauterine growth retardation
HP:0001560Abnormality of the amniotic fluid
HP:0008897Postnatal growth retardation
Частый (30–79%)6
HP:0000821Hypothyroidism
HP:0001562Oligohydramnios
HP:0002643Neonatal respiratory distress
HP:0003028Abnormality of the ankles
HP:0004639Elevated amniotic fluid alpha-fetoprotein
HP:0005781Contractures of the large joints
Периодический (5–29%)18
HP:0000041Chordee
HP:0000047Hypospadias
HP:0000083Renal insufficiency
HP:0000110Renal dysplasia
HP:0000546Retinal degeneration
HP:0000824Decreased response to growth hormone stimulation test
HP:0001177Preaxial hand polydactyly
HP:0001622Premature birth
HP:0001763Pes planus
HP:0002089Pulmonary hypoplasia
HP:0002652Skeletal dysplasia
HP:0002721Immunodeficiency
HP:0004209Clinodactyly of the 5th finger
HP:0004880Respiratory infections in early life
HP:0005268Spontaneous abortion
HP:0008209Premature ovarian insufficiency
HP:0008440C1-C2 vertebral abnormality
HP:0008689Bilateral cryptorchidism
Очень редкий (1–4%)1
HP:0001263Global developmental delay
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)