Maternal uniparental disomy of chromosome X syndrome
ORPHA:261519Malformation syndromeNeonatal
Фенотипы (HPO)26
Очень частый (80–99%)23
HP:0000233Thin vermilion border
HP:0000252Microcephaly
HP:0000470Short neck
HP:0000914Shield chest
HP:0001010Hypopigmentation of the skin
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001263Global developmental delay
HP:0001371Flexion contracture
HP:0001399Hepatic failure
HP:0004322Short stature
HP:0001635Congestive heart failure
HP:0001838Rocker bottom foot
HP:0002162Low posterior hairline
HP:0002650Scoliosis
HP:0002916Abnormality of chromosome segregation
HP:0002967Cubitus valgus
HP:0003186Inverted nipples
HP:0003550Predominantly lower limb lymphedema
HP:0005280Depressed nasal bridge
HP:0008193Primary gonadal insufficiency
HP:0100490Camptodactyly of finger
Частый (30–79%)3
HP:0000027Azoospermia
HP:0000062Ambiguous genitalia
HP:0003248Gonadal tissue inappropriate for external genitalia or chromosomal sex
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)