Developmental and speech delay due to SOX5 deficiency
ORPHA:313892Clinical subtypeAutosomal dominant, Not applicableInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)31
Облигатный (100%)2
HP:0001249Intellectual disability
HP:0001270Motor delay
Очень частый (80–99%)2
HP:0000750Delayed speech and language development
HP:0430028Hyperplasia of the maxilla
Частый (30–79%)16
HP:0000189Narrow palate
HP:0000486Strabismus
HP:0000545Myopia
HP:0000577Exotropia
HP:0000648Optic atrophy
HP:0000678Dental crowding
HP:0000739Anxiety
HP:0000768Pectus carinatum
HP:0001252Hypotonia
HP:0002007Frontal bossing
HP:0002711Exaggerated median tongue furrow
HP:0002938Lumbar hyperlordosis
HP:0002948Vertebral fusion
HP:00046912-3 toe syndactyly
HP:0005659Thoracic kyphoscoliosis
HP:0012443Abnormality of brain morphology
Периодический (5–29%)11
HP:0000078Abnormality of the genital system
HP:0000718Aggressive behavior
HP:0000733Abnormal repetitive mannerisms
HP:0001250Seizure
HP:0001653Mitral regurgitation
HP:0002020Gastroesophageal reflux
HP:0002650Scoliosis
HP:0003316Butterfly vertebrae
HP:0007018Attention deficit hyperactivity disorder
HP:0011968Feeding difficulties
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | 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)