X-linked alpha-thalassemia-intellectual disability syndrome
ORPHA:847Malformation syndromeX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)66
Очень частый (80–99%)14
HP:0000028Cryptorchidism
HP:0000037Male pseudohermaphroditism
HP:0000062Ambiguous genitalia
HP:0000252Microcephaly
HP:0000271Abnormality of the face
HP:0000316Hypertelorism
HP:0000708Atypical behavior
HP:0001249Intellectual disability
HP:0002020Gastroesophageal reflux
HP:0002381Aphasia
HP:0010461Abnormality of the male genitalia
HP:0011328Abnormality of fontanelles
HP:0012368Flat face
HP:0012736Profound global developmental delay
Частый (30–79%)21
HP:0000158Macroglossia
HP:0000179Thick lower lip vermilion
HP:0000232Everted lower lip vermilion
HP:0000286Epicanthus
HP:0000457Depressed nasal ridge
HP:0000463Anteverted nares
HP:0000505Visual impairment
HP:0000506Telecanthus
HP:0000717Autism
HP:0001250Seizure
HP:0001270Motor delay
HP:0001762Talipes equinovarus
HP:0002307Drooling
HP:0002360Sleep abnormality
HP:0002808Kyphosis
HP:0004322Short stature
HP:0008736Hypoplasia of penis
HP:0010804Tented upper lip vermilion
HP:0010806U-Shaped upper lip vermilion
HP:0011800Midface retrusion
HP:0011902Abnormal hemoglobin
Периодический (5–29%)31
HP:0000648Optic atrophy
HP:0000716Depression
HP:0000939Osteoporosis
HP:0001156Brachydactyly
HP:0001252Hypotonia
HP:0001258Spastic paraplegia
HP:0001274Agenesis of corpus callosum
HP:0001371Flexion contracture
HP:0001387Joint stiffness
HP:0001510Growth delay
HP:0001522Death in infancy
HP:0001627Abnormal heart morphology
HP:0001903Anemia
HP:0002017Nausea and vomiting
HP:0002019Constipation
HP:0002120Cerebral cortical atrophy
HP:0002251Aganglionic megacolon
HP:0002383Infectious encephalitis
HP:0002580Volvulus
HP:0002650Scoliosis
HP:0004209Clinodactyly of the 5th finger
HP:0008872Feeding difficulties in infancy
HP:0100022Abnormality of movement
HP:0100716Self-injurious behavior
HP:0000010Recurrent urinary tract infections
HP:0000077Abnormality of the kidney
HP:0000126Hydronephrosis
HP:0000164Abnormality of the dentition
HP:0000407Sensorineural hearing impairment
HP:0000545Myopia
HP:0000618Blindness
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)