1q21.1 microdeletion syndrome
ORPHA:250989Malformation syndromeAutosomal dominant, Not applicableInfancy, Neonatal
Фенотипы (HPO)47
Частый (30–79%)11
HP:0000218High palate
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000343Long philtrum
HP:0000414Bulbous nose
HP:0000431Wide nasal bridge
HP:0000490Deeply set eye
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002007Frontal bossing
HP:0004322Short stature
Периодический (5–29%)36
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000076Vesicoureteral reflux
HP:0000126Hydronephrosis
HP:0000238Hydrocephalus
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000612Iris coloboma
HP:0000716Depression
HP:0000717Autism
HP:0000739Anxiety
HP:0001161Hand polydactyly
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001274Agenesis of corpus callosum
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001643Patent ductus arteriosus
HP:0001671Abnormal cardiac septum morphology
HP:0001762Talipes equinovarus
HP:0001770Toe syndactyly
HP:0001773Short foot
HP:0001829Foot polydactyly
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0004209Clinodactyly of the 5th finger
HP:0007018Attention deficit hyperactivity disorder
HP:0008499High hypermetropia
HP:0010059Broad hallux phalanx
HP:0010296Ankyloglossia
HP:0011304Broad thumb
HP:0011611Interrupted aortic arch
HP:0100753Schizophrenia
HP:0001382Joint hypermobility
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)