X-linked intellectual disability-short stature-overweight syndrome
ORPHA:457240Malformation syndromeX-linked recessiveAdolescent, Childhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)37
Частый (30–79%)9
HP:0000218High palate
HP:0000708Atypical behavior
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001256Intellectual disability, mild
HP:0001337Tremor
HP:0002342Intellectual disability, moderate
HP:0004322Short stature
HP:0025502Overweight
Периодический (5–29%)28
HP:0000054Micropenis
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000348High forehead
HP:0000400Macrotia
HP:0000486Strabismus
HP:0000639Nystagmus
HP:0000716Depression
HP:0000729Autistic behavior
HP:0000733Abnormal repetitive mannerisms
HP:0000739Anxiety
HP:0000742Self-mutilation
HP:0000824Decreased response to growth hormone stimulation test
HP:0000954Single transverse palmar crease
HP:0001250Seizure
HP:0001288Gait disturbance
HP:0001385Hip dysplasia
HP:0001658Myocardial infarction
HP:0002069Bilateral tonic-clonic seizure
HP:0002171Gliosis
HP:0002206Pulmonary fibrosis
HP:0002487Hyperkinetic movements
HP:0004437Cranial hyperostosis
HP:0006986Upper limb spasticity
HP:0007033Cerebellar dysplasia
HP:0008734Decreased testicular size
HP:0010864Intellectual disability, severe
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)