Distal deletion 17q syndrome
ORPHA:1597Malformation syndromeNot applicable, UnknownAntenatal, Neonatal
Фенотипы (HPO)31
Очень частый (80–99%)31
HP:0000358Posteriorly rotated ears
HP:0000160Narrow mouth
HP:0000252Microcephaly
HP:0000288Abnormality of the philtrum
HP:0000316Hypertelorism
HP:0000582Upslanted palpebral fissure
HP:0000648Optic atrophy
HP:0000995Melanocytic nevus
HP:0001172Abnormal thumb morphology
HP:0001622Premature birth
HP:0001626Abnormality of the cardiovascular system
HP:0001643Patent ductus arteriosus
HP:0001671Abnormal cardiac septum morphology
HP:0002093Respiratory insufficiency
HP:0002240Hepatomegaly
HP:0002983Micromelia
HP:0003272Abnormality of the hip bone
HP:0003312Abnormal form of the vertebral bodies
HP:0004097Deviation of finger
HP:0004322Short stature
HP:0005487Prominent metopic ridge
HP:0005916Abnormal metacarpal morphology
HP:0007477Abnormal dermatoglyphics
HP:0007598Bilateral single transverse palmar creases
HP:0008551Microtia
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0010293Aplasia/Hypoplasia of the uvula
HP:0010306Short thorax
HP:0100555Asymmetric growth
HP:0100560Upper limb asymmetry
HP:0200055Small hand
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)