Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
ORPHA:284169Clinical subtypeNot applicable, UnknownInfancy
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)9
HP:0000505Visual impairment
HP:0000708Atypical behavior
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001627Abnormal heart morphology
HP:0007018Attention deficit hyperactivity disorder
HP:0012443Abnormality of brain morphology
Частый (30–79%)11
HP:0000293Full cheeks
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000718Aggressive behavior
HP:0000739Anxiety
HP:0001250Seizure
HP:0001319Neonatal hypotonia
HP:0002019Constipation
HP:0002360Sleep abnormality
HP:0011968Feeding difficulties
HP:0012745Short palpebral fissure
Периодический (5–29%)26
HP:0001629Ventricular septal defect
HP:0001642Pulmonic stenosis
HP:0001643Patent ductus arteriosus
HP:0001647Bicuspid aortic valve
HP:0001680Coarctation of aorta
HP:0001714Ventricular hypertrophy
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002608Celiac disease
HP:0003196Short nose
HP:0005280Depressed nasal bridge
HP:0010800Absent cupid's bow
HP:0011220Prominent forehead
HP:0000358Posteriorly rotated ears
HP:0000365Hearing impairment
HP:0000414Bulbous nose
HP:0000453Choanal atresia
HP:0000490Deeply set eye
HP:0000494Downslanted palpebral fissures
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000567Chorioretinal coloboma
HP:0000646Amblyopia
HP:0000664Synophrys
HP:0000729Autistic behavior
HP:0001321Cerebellar hypoplasia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 19 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)