Müllerian derivatives-lymphangiectasia-polydactyly syndrome
ORPHA:1655Malformation syndromeUnknownAntenatal, Neonatal
Фенотипы (HPO)41
Очень частый (80–99%)39
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000126Hydronephrosis
HP:0000130Abnormality of the uterus
HP:0000148Vaginal atresia
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000455Broad nasal tip
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0000774Narrow chest
HP:0000998Hypertrichosis
HP:0001090Abnormally large globe
HP:0001162Postaxial hand polydactyly
HP:0001290Generalized hypotonia
HP:0001399Hepatic failure
HP:0001433Hepatosplenomegaly
HP:0001541Ascites
HP:0001561Polyhydramnios
HP:0001629Ventricular septal defect
HP:0001744Splenomegaly
HP:0002119Ventriculomegaly
HP:0002240Hepatomegaly
HP:0002901Hypocalcemia
HP:0003075Hypoproteinemia
HP:0003270Abdominal distention
HP:0005469Flat occiput
HP:0005989Redundant neck skin
HP:0006273Pancreatic lymphangiectasis
HP:0006521Pulmonary lymphangiectasia
HP:0008897Postnatal growth retardation
HP:0009085Alveolar ridge overgrowth
HP:0011027Abnormality of the fallopian tube
HP:0011800Midface retrusion
HP:0012210Abnormal renal morphology
Частый (30–79%)2
HP:0000054Micropenis
HP:0002243Protein-losing enteropathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)