Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
ORPHA:369837Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)71
Очень частый (80–99%)13
HP:0000248Brachycephaly
HP:0000341Narrow forehead
HP:0000343Long philtrum
HP:0000348High forehead
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0000938Osteopenia
HP:0001252Hypotonia
HP:0003100Slender long bone
HP:0005280Depressed nasal bridge
HP:0010864Intellectual disability, severe
HP:0011842Abnormality of skeletal morphology
HP:0100704Cerebral visual impairment
Частый (30–79%)20
HP:0000079Abnormality of the urinary system
HP:0000121Nephrocalcinosis
HP:0000365Hearing impairment
HP:0000431Wide nasal bridge
HP:0000540Hypermetropia
HP:0000767Pectus excavatum
HP:0001627Abnormal heart morphology
HP:0002069Bilateral tonic-clonic seizure
HP:0002123Generalized myoclonic seizure
HP:0002150Hypercalciuria
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0002714Downturned corners of mouth
HP:0002750Delayed skeletal maturation
HP:0003072Hypercalcemia
HP:0003282Low alkaline phosphatase
HP:0008676Congenital megaureter
HP:0009824Upper limb undergrowth
HP:0010818Generalized tonic seizure
HP:0012373Abnormal eye physiology
Периодический (5–29%)38
HP:0000107Renal cyst
HP:0000110Renal dysplasia
HP:0000272Malar flattening
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000483Astigmatism
HP:0000545Myopia
HP:0000582Upslanted palpebral fissure
HP:0000826Precocious puberty
HP:0000829Hypoparathyroidism
HP:0001272Cerebellar atrophy
HP:0001363Craniosynostosis
HP:0001382Joint hypermobility
HP:0001513Obesity
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001723Restrictive cardiomyopathy
HP:0002020Gastroesophageal reflux
HP:0002101Abnormal lung lobation
HP:0002121Generalized non-motor (absence) seizure
HP:0002155Hypertriglyceridemia
HP:0002263Exaggerated cupid's bow
HP:0002283Global brain atrophy
HP:0002720Decreased circulating IgA level
HP:0002850Decreased circulating total IgM
HP:0002870Obstructive sleep apnea
HP:0003186Inverted nipples
HP:0006480Premature loss of teeth
HP:0006961Jerky head movements
HP:0010536Central sleep apnea
HP:0010804Tented upper lip vermilion
HP:0010841Multifocal epileptiform discharges
HP:0010850EEG with spike-wave complexes
HP:0011199EEG with generalized sharp slow waves
HP:0011470Nasogastric tube feeding in infancy
HP:0012718Morphological abnormality of the gastrointestinal tract
HP:0025330Downgaze palsy
HP:0030856Posterior staphyloma
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)