Distal deletion 13q syndrome
ORPHA:1590Malformation syndromeAntenatal, Infancy, Neonatal
Фенотипы (HPO)22
Периодический (5–29%)22
HP:0000062Ambiguous genitalia
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000612Iris coloboma
HP:0000648Optic atrophy
HP:0001155Abnormality of the hand
HP:0001276Hypertonia
HP:0001360Holoprosencephaly
HP:0001671Abnormal cardiac septum morphology
HP:0002023Anal atresia
HP:0002084Encephalocele
HP:0002323Anencephaly
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0005916Abnormal metacarpal morphology
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0008207Primary adrenal insufficiency
HP:0008678Renal hypoplasia/aplasia
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0100543Cognitive impairment
HP:0100589Urogenital fistula
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 150 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)