7q11.23 microduplication syndrome
ORPHA:96121Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)95
Очень частый (80–99%)1
HP:0000750Delayed speech and language development
Частый (30–79%)35
HP:0000358Posteriorly rotated ears
HP:0004942Aortic aneurysm
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000248Brachycephaly
HP:0000256Macrocephaly
HP:0000268Dolichocephaly
HP:0000278Retrognathia
HP:0000322Short philtrum
HP:0000337Broad forehead
HP:0000347Micrognathia
HP:0000363Abnormality of earlobe
HP:0000455Broad nasal tip
HP:0000490Deeply set eye
HP:0000527Long eyelashes
HP:0000689Dental malocclusion
HP:0000699Diastema
HP:0000739Anxiety
HP:0000752Hyperactivity
HP:0000776Congenital diaphragmatic hernia
HP:0000954Single transverse palmar crease
HP:0001256Intellectual disability, mild
HP:0001270Motor delay
HP:0001290Generalized hypotonia
HP:0001310Dysmetria
HP:0001321Cerebellar hypoplasia
HP:0001363Craniosynostosis
HP:0001999Abnormal facial shape
HP:0002011Morphological central nervous system abnormality
HP:0002119Ventriculomegaly
HP:0002317Unsteady gait
HP:0002342Intellectual disability, moderate
HP:0009879Simplified gyral pattern
HP:0009929Abnormal columella morphology
HP:0012450Chronic constipation
Периодический (5–29%)30
HP:0012760Reduced social responsiveness
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000200Short lingual frenulum
HP:0000233Thin vermilion border
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000389Chronic otitis media
HP:0000396Overfolded helix
HP:0000565Esotropia
HP:0000718Aggressive behavior
HP:0000733Abnormal repetitive mannerisms
HP:0000753Autism with high cognitive abilities
HP:0000965Cutis marmorata
HP:0001250Seizure
HP:0001382Joint hypermobility
HP:0001510Growth delay
HP:0001513Obesity
HP:0001643Patent ductus arteriosus
HP:0002300Mutism
HP:0002307Drooling
HP:0002360Sleep abnormality
HP:0002591Polyphagia
HP:0004322Short stature
HP:0004768Sparse anterior scalp hair
HP:0009748Large earlobe
HP:0010794Impaired visuospatial constructive cognition
HP:0010864Intellectual disability, severe
HP:0011228Horizontal eyebrow
HP:0011333Asymmetric crying face
Очень редкий (1–4%)29
HP:0000047Hypospadias
HP:0000122Unilateral renal agenesis
HP:0000126Hydronephrosis
HP:0000238Hydrocephalus
HP:0000311Round face
HP:0000365Hearing impairment
HP:0000470Short neck
HP:0000483Astigmatism
HP:0000486Strabismus
HP:0000577Exotropia
HP:0000767Pectus excavatum
HP:0000805Enuresis
HP:0000957Cafe-au-lait spot
HP:0000960Sacral dimple
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001650Aortic valve stenosis
HP:0001763Pes planus
HP:0002779Tracheomalacia
HP:0002937Hemivertebrae
HP:0002967Cubitus valgus
HP:0007772Impaired smooth pursuit
HP:0008655Aplasia/Hypoplasia of the fallopian tube
HP:0008684Aplasia/hypoplasia of the uterus
HP:0012795Abnormality of the optic disc
HP:0030212Collectionism
HP:0045025Narrow palpebral fissure
HP:0100716Self-injurious behavior
HP:0100807Long fingers
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 163 | Worldwide | Case(s) |
| Point prevalence | 1-9 / 100 000 | 8 | Worldwide | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)