9q33.3q34.11 microdeletion syndrome
ORPHA:495818Malformation syndromeNot applicableChildhood, Infancy
Ассоциированные гены2
Фенотипы (HPO)53
Очень частый (80–99%)15
HP:0000233Thin vermilion border
HP:0000293Full cheeks
HP:0000311Round face
HP:0000414Bulbous nose
HP:0000750Delayed speech and language development
HP:0001250Seizure
HP:0001270Motor delay
HP:0002003Large forehead
HP:0002015Dysphagia
HP:0002164Nail dysplasia
HP:0002999Patellar dislocation
HP:0008936Axial hypotonia
HP:0010864Intellectual disability, severe
HP:0011822Broad chin
HP:0200005Abnormal shape of the palpebral fissure
Частый (30–79%)17
HP:0000160Narrow mouth
HP:0000252Microcephaly
HP:0000421Epistaxis
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000506Telecanthus
HP:0000708Atypical behavior
HP:0001357Plagiocephaly
HP:0001762Talipes equinovarus
HP:0002019Constipation
HP:0002099Asthma
HP:0002540Inability to walk
HP:0002553Highly arched eyebrow
HP:0003065Patellar hypoplasia
HP:0005487Prominent metopic ridge
HP:0006471Fixed elbow flexion
HP:0010665Bilateral coxa valga
Периодический (5–29%)21
HP:0000028Cryptorchidism
HP:0000046Small scrotum
HP:0000054Micropenis
HP:0000077Abnormality of the kidney
HP:0000248Brachycephaly
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0000445Wide nose
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000954Single transverse palmar crease
HP:0001009Telangiectasia
HP:0001285Spastic tetraparesis
HP:0001643Patent ductus arteriosus
HP:0002188Delayed CNS myelination
HP:0002518Abnormal periventricular white matter morphology
HP:0006443Patellar aplasia
HP:0006855Cerebellar vermis atrophy
HP:0010720Abnormal hair pattern
HP:0011825Tented philtrum
HP:0100633Esophagitis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)