Intellectual disability-strabismus syndrome
ORPHA:363528DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)72
Очень частый (80–99%)3
HP:0000486Strabismus
HP:0001249Intellectual disability
HP:0001508Failure to thrive
Частый (30–79%)11
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000582Upslanted palpebral fissure
HP:0000750Delayed speech and language development
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0008947Floppy infant
HP:0011220Prominent forehead
HP:0012443Abnormality of brain morphology
Периодический (5–29%)45
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000154Wide mouth
HP:0000218High palate
HP:0000276Long face
HP:0000316Hypertelorism
HP:0000324Facial asymmetry
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000400Macrotia
HP:0000403Recurrent otitis media
HP:0000418Narrow nasal ridge
HP:0000448Prominent nose
HP:0000470Short neck
HP:0000506Telecanthus
HP:0000664Synophrys
HP:0000718Aggressive behavior
HP:0000752Hyperactivity
HP:0000824Decreased response to growth hormone stimulation test
HP:0000966Hypohidrosis
HP:0001250Seizure
HP:0001357Plagiocephaly
HP:0001376Limitation of joint mobility
HP:0001511Intrauterine growth retardation
HP:0001561Polyhydramnios
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001762Talipes equinovarus
HP:0001771Achilles tendon contracture
HP:0001838Rocker bottom foot
HP:0002020Gastroesophageal reflux
HP:0002553Highly arched eyebrow
HP:0003196Short nose
HP:0007162Diffuse demyelination of the cerebral white matter
HP:0012408Medullary nephrocalcinosis
HP:0012444Brain atrophy
HP:0012448Delayed myelination
HP:0012471Thick vermilion border
HP:0030353Decreased serum insulin-like growth factor 1
HP:0031123Recurrent gastroenteritis
HP:0100710Impulsivity
Очень редкий (1–4%)13
HP:0000164Abnormality of the dentition
HP:0000776Congenital diaphragmatic hernia
HP:0000821Hypothyroidism
HP:0001274Agenesis of corpus callosum
HP:0001288Gait disturbance
HP:0002079Hypoplasia of the corpus callosum
HP:0002172Postural instability
HP:0005879Congenital finger flexion contractures
HP:0009473Joint contracture of the hand
HP:0009830Peripheral neuropathy
HP:0011968Feeding difficulties
HP:0012450Chronic constipation
HP:0100702Arachnoid cyst
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 34 | 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)