11q22.2q22.3 microdeletion syndrome
ORPHA:444002Malformation syndromeNot applicableInfancy, Neonatal
Фенотипы (HPO)44
Частый (30–79%)3
HP:0000739Anxiety
HP:0001252Hypotonia
HP:0001263Global developmental delay
Периодический (5–29%)40
HP:0000219Thin upper lip vermilion
HP:0000286Epicanthus
HP:0000341Narrow forehead
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000545Myopia
HP:0000574Thick eyebrow
HP:0000722Compulsive behaviors
HP:0000736Short attention span
HP:0000750Delayed speech and language development
HP:0000753Autism with high cognitive abilities
HP:0000817Reduced eye contact
HP:0000953Hyperpigmentation of the skin
HP:0001028Hemangioma
HP:0001156Brachydactyly
HP:0001250Seizure
HP:0001256Intellectual disability, mild
HP:0001260Dysarthria
HP:0001513Obesity
HP:0001773Short foot
HP:0002079Hypoplasia of the corpus callosum
HP:0002194Delayed gross motor development
HP:0002307Drooling
HP:0002421Poor head control
HP:0002705High, narrow palate
HP:0004209Clinodactyly of the 5th finger
HP:0005280Depressed nasal bridge
HP:0007018Attention deficit hyperactivity disorder
HP:0007598Bilateral single transverse palmar creases
HP:0011368Epidermal thickening
HP:0011968Feeding difficulties
HP:0012433Abnormal social behavior
HP:0012448Delayed myelination
HP:0012758Neurodevelopmental delay
HP:0030190Oral motor hypotonia
HP:0200034Papule
HP:0200055Small hand
Очень редкий (1–4%)1
HP:0000708Atypical behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)