Distal deletion 10q syndrome
ORPHA:96148Malformation syndromeNot applicable, UnknownAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)92
Очень частый (80–99%)5
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001999Abnormal facial shape
Частый (30–79%)14
HP:0000219Thin upper lip vermilion
HP:0000356Abnormality of the outer ear
HP:0000431Wide nasal bridge
HP:0000486Strabismus
HP:0000708Atypical behavior
HP:0000805Enuresis
HP:0001508Failure to thrive
HP:0002280Enlarged cisterna magna
HP:0002395Lower limb hyperreflexia
HP:0002465Poor speech
HP:0002719Recurrent infections
HP:0008897Postnatal growth retardation
HP:0008947Floppy infant
HP:0030084Clinodactyly
Периодический (5–29%)45
HP:0000175Cleft palate
HP:0000218High palate
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000319Smooth philtrum
HP:0000324Facial asymmetry
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000426Prominent nasal bridge
HP:0000448Prominent nose
HP:0000483Astigmatism
HP:0000545Myopia
HP:0000582Upslanted palpebral fissure
HP:0000657Oculomotor apraxia
HP:0000718Aggressive behavior
HP:0000954Single transverse palmar crease
HP:0001156Brachydactyly
HP:0001182Tapered finger
HP:0001250Seizure
HP:0001257Spasticity
HP:0001321Cerebellar hypoplasia
HP:0001349Facial diplegia
HP:0001622Premature birth
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001763Pes planus
HP:0001852Sandal gap
HP:0002169Clonus
HP:0000076Vesicoureteral reflux
HP:0000085Horseshoe kidney
HP:0000119Abnormality of the genitourinary system
HP:0002317Unsteady gait
HP:0002360Sleep abnormality
HP:0002389Cavum septum pellucidum
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:00057092-3 toe cutaneous syndactyly
HP:0006956Dilation of lateral ventricles
HP:0007010Poor fine motor coordination
HP:0007018Attention deficit hyperactivity disorder
HP:0007068Inferior vermis hypoplasia
HP:0008081Pes valgus
HP:0008527Congenital sensorineural hearing impairment
HP:0010743Short metatarsal
HP:0011968Feeding difficulties
Очень редкий (1–4%)28
HP:0000009Functional abnormality of the bladder
HP:0000248Brachycephaly
HP:0000325Triangular face
HP:0000337Broad forehead
HP:0000341Narrow forehead
HP:0000349Widow's peak
HP:0000411Protruding ear
HP:0000494Downslanted palpebral fissures
HP:0000520Proptosis
HP:0000601Hypotelorism
HP:0000739Anxiety
HP:0000767Pectus excavatum
HP:0001212Prominent fingertip pads
HP:0001251Ataxia
HP:0001363Craniosynostosis
HP:0001385Hip dysplasia
HP:0001800Hypoplastic toenails
HP:0001919Acute kidney injury
HP:0002007Frontal bossing
HP:0002023Anal atresia
HP:0002827Hip dislocation
HP:0002938Lumbar hyperlordosis
HP:0003196Short nose
HP:0003298Spina bifida occulta
HP:0003691Scapular winging
HP:0005487Prominent metopic ridge
HP:0008554Cochlear malformation
HP:0011376Morphological abnormality of the vestibule of the inner ear
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 40 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)