1q41q42 microdeletion syndrome
ORPHA:250999Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)32
Очень частый (80–99%)9
HP:0000271Abnormality of the face
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001319Neonatal hypotonia
HP:0001510Growth delay
HP:0004322Short stature
HP:0002007Frontal bossing
HP:0011344Severe global developmental delay
Частый (30–79%)10
HP:0000430Underdeveloped nasal alae
HP:0000455Broad nasal tip
HP:0000490Deeply set eye
HP:0000582Upslanted palpebral fissure
HP:0000708Atypical behavior
HP:0001762Talipes equinovarus
HP:0001792Small nail
HP:0002011Morphological central nervous system abnormality
HP:0005280Depressed nasal bridge
HP:0012471Thick vermilion border
Периодический (5–29%)13
HP:0000028Cryptorchidism
HP:0000078Abnormality of the genital system
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000280Coarse facial features
HP:0000486Strabismus
HP:0000525Abnormality iris morphology
HP:0000601Hypotelorism
HP:0000776Congenital diaphragmatic hernia
HP:0000815Hypergonadotropic hypogonadism
HP:0001360Holoprosencephaly
HP:0002089Pulmonary hypoplasia
HP:0011447Hyposegmentation of neutrophil nuclei
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)