Maternal uniparental disomy of chromosome 6 syndrome
ORPHA:96181Malformation syndromeAntenatal, Neonatal
Фенотипы (HPO)21
Частый (30–79%)16
HP:0000023Inguinal hernia
HP:0000034Hydrocele testis
HP:0000175Cleft palate
HP:0000204Cleft upper lip
HP:0000325Triangular face
HP:0000510Rod-cone dystrophy
HP:0000512Abnormal electroretinogram
HP:0000529Progressive visual loss
HP:0000964Eczematoid dermatitis
HP:0001249Intellectual disability
HP:0001511Intrauterine growth retardation
HP:0001873Thrombocytopenia
HP:0002119Ventriculomegaly
HP:0002721Immunodeficiency
HP:0003100Slender long bone
HP:0005268Spontaneous abortion
Периодический (5–29%)5
HP:0002194Delayed gross motor development
HP:0002805Accelerated bone age after puberty
HP:0008258Congenital adrenal hyperplasia
HP:0008665Clitoral hypertrophy
HP:0030088Increased serum testosterone level
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)