2q31.1 microdeletion syndrome
ORPHA:251014Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)63
Очень частый (80–99%)2
HP:0001249Intellectual disability
HP:0001263Global developmental delay
Частый (30–79%)27
HP:0000252Microcephaly
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000414Bulbous nose
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0001156Brachydactyly
HP:0001182Tapered finger
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001595Abnormality of the hair
HP:0001770Toe syndactyly
HP:0001800Hypoplastic toenails
HP:0001852Sandal gap
HP:0002002Deep philtrum
HP:0002463Language impairment
HP:0002714Downturned corners of mouth
HP:0002750Delayed skeletal maturation
HP:0003422Vertebral segmentation defect
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0005487Prominent metopic ridge
HP:0005916Abnormal metacarpal morphology
HP:0010059Broad hallux phalanx
HP:0012745Short palpebral fissure
HP:0100490Camptodactyly of finger
Периодический (5–29%)34
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000175Cleft palate
HP:0000232Everted lower lip vermilion
HP:0000233Thin vermilion border
HP:0000243Trigonocephaly
HP:0000275Narrow face
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000294Low anterior hairline
HP:0000316Hypertelorism
HP:0000324Facial asymmetry
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000520Proptosis
HP:0000568Microphthalmia
HP:0000588Optic disc coloboma
HP:0000589Coloboma
HP:0000612Iris coloboma
HP:0000664Synophrys
HP:0000864Abnormality of the hypothalamus-pituitary axis
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001773Short foot
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002991Abnormal fibula morphology
HP:0002992Abnormality of tibia morphology
HP:0004279Short palm
HP:0006101Finger syndactyly
HP:0040071Abnormal morphology of ulna
HP:0100257Ectrodactyly
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)