4q21 microdeletion syndrome
ORPHA:238750Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)42
Очень частый (80–99%)6
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001510Growth delay
HP:0010864Intellectual disability, severe
HP:0011344Severe global developmental delay
Частый (30–79%)12
HP:0000293Full cheeks
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000337Broad forehead
HP:0000369Low-set ears
HP:0000470Short neck
HP:0001773Short foot
HP:0002007Frontal bossing
HP:0002983Micromelia
HP:0004279Short palm
HP:0005280Depressed nasal bridge
HP:0200055Small hand
Периодический (5–29%)24
HP:0000164Abnormality of the dentition
HP:0000233Thin vermilion border
HP:0000239Large fontanelles
HP:0000348High forehead
HP:0000365Hearing impairment
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000527Long eyelashes
HP:0000664Synophrys
HP:0000717Autism
HP:0000733Abnormal repetitive mannerisms
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001321Cerebellar hypoplasia
HP:0001337Tremor
HP:0001511Intrauterine growth retardation
HP:0001770Toe syndactyly
HP:0002119Ventriculomegaly
HP:0002230Generalized hirsutism
HP:0002360Sleep abnormality
HP:0002650Scoliosis
HP:0002714Downturned corners of mouth
HP:0002808Kyphosis
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 14 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)