20q13.33 microdeletion syndrome
ORPHA:261311Malformation syndromeNot applicableNeonatal
Фенотипы (HPO)43
Очень частый (80–99%)8
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001510Growth delay
HP:0001518Small for gestational age
HP:0002813Abnormality of limb bone morphology
HP:0012520Dilation of Virchow-Robin spaces
HP:0012758Neurodevelopmental delay
Частый (30–79%)6
HP:0000358Posteriorly rotated ears
HP:0000494Downslanted palpebral fissures
HP:0000582Upslanted palpebral fissure
HP:0001250Seizure
HP:0001531Failure to thrive in infancy
HP:0006385Short lower limbs
Периодический (5–29%)29
HP:0000047Hypospadias
HP:0000233Thin vermilion border
HP:0000286Epicanthus
HP:0000297Facial hypotonia
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000325Triangular face
HP:0000341Narrow forehead
HP:0000414Bulbous nose
HP:0000460Narrow nose
HP:0000520Proptosis
HP:0000729Autistic behavior
HP:0000960Sacral dimple
HP:0001182Tapered finger
HP:0001562Oligohydramnios
HP:0001631Atrial septal defect
HP:0001713Abnormal cardiac ventricle morphology
HP:0001762Talipes equinovarus
HP:0001763Pes planus
HP:0001822Hallux valgus
HP:0002079Hypoplasia of the corpus callosum
HP:0002188Delayed CNS myelination
HP:0002553Highly arched eyebrow
HP:0002573Hematochezia
HP:0002827Hip dislocation
HP:0006709Aplasia/Hypoplasia of the nipples
HP:0009899Prominent crus of helix
HP:0012304Hypoplastic aortic arch
HP:0012858Decreased scrotal rugation
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)