X-linked intellectual disability, Snyder type
ORPHA:3063DiseaseX-linked recessiveAdolescent, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)66
Очень частый (80–99%)1
HP:0002751Kyphoscoliosis
Частый (30–79%)15
HP:0000175Cleft palate
HP:0000179Thick lower lip vermilion
HP:0000275Narrow face
HP:0000276Long face
HP:0000324Facial asymmetry
HP:0000939Osteoporosis
HP:0001166Arachnodactyly
HP:0001519Disproportionate tall stature
HP:0001611Hypernasal speech
HP:0002317Unsteady gait
HP:0002808Kyphosis
HP:0003199Decreased muscle mass
HP:0008947Floppy infant
HP:0010511Long toe
HP:0011308Slender toe
Периодический (5–29%)31
HP:0000028Cryptorchidism
HP:0000029Testicular atrophy
HP:0000047Hypospadias
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000369Low-set ears
HP:0000414Bulbous nose
HP:0000426Prominent nasal bridge
HP:0000463Anteverted nares
HP:0000465Webbed neck
HP:0000582Upslanted palpebral fissure
HP:0000664Synophrys
HP:0000678Dental crowding
HP:0000750Delayed speech and language development
HP:0001256Intellectual disability, mild
HP:0001336Myoclonus
HP:0001344Absent speech
HP:0001999Abnormal facial shape
HP:0002123Generalized myoclonic seizure
HP:0002353EEG abnormality
HP:0002540Inability to walk
HP:0002757Recurrent fractures
HP:0003698Difficulty standing
HP:0004305Involuntary movements
HP:0007509Patchy hypo- and hyperpigmentation
HP:0007687Unilateral ptosis
HP:0010722Asymmetry of the ears
HP:0011153Focal motor seizure
HP:0045075Sparse eyebrow
Очень редкий (1–4%)19
HP:0000086Ectopic kidney
HP:0000232Everted lower lip vermilion
HP:0000248Brachycephaly
HP:0000303Mandibular prognathia
HP:0000322Short philtrum
HP:0000378Cupped ear
HP:0000385Small earlobe
HP:0000391Thickened helices
HP:0000520Proptosis
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0001355Megalencephaly
HP:0002181Cerebral edema
HP:0002187Intellectual disability, profound
HP:0004322Short stature
HP:0006610Wide intermamillary distance
HP:0010789Abnormality of the Leydig cells
HP:0011003High myopia
HP:0012385Camptodactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 21 | 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)