2q23.1 microduplication syndrome
ORPHA:313947Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)37
Очень частый (80–99%)8
HP:0000154Wide mouth
HP:0000356Abnormality of the outer ear
HP:0000708Atypical behavior
HP:0000729Autistic behavior
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0002465Poor speech
HP:0008947Floppy infant
Частый (30–79%)20
HP:0000164Abnormality of the dentition
HP:0000219Thin upper lip vermilion
HP:0000414Bulbous nose
HP:0000448Prominent nose
HP:0000486Strabismus
HP:0000527Long eyelashes
HP:0000601Hypotelorism
HP:0000678Dental crowding
HP:0000817Reduced eye contact
HP:0001155Abnormality of the hand
HP:0001488Bilateral ptosis
HP:0001760Abnormal foot morphology
HP:0002136Broad-based gait
HP:0002360Sleep abnormality
HP:0002370Poor coordination
HP:0002553Highly arched eyebrow
HP:0004209Clinodactyly of the 5th finger
HP:0005274Prominent nasal tip
HP:0010055Broad hallux
HP:0011800Midface retrusion
Периодический (5–29%)8
HP:0000294Low anterior hairline
HP:0000331Short chin
HP:0000483Astigmatism
HP:0000505Visual impairment
HP:0000957Cafe-au-lait spot
HP:0001852Sandal gap
HP:0002013Vomiting
HP:0002020Gastroesophageal reflux
Очень редкий (1–4%)1
HP:0000718Aggressive behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)