X-linked intellectual disability-hypotonia-movement disorder syndrome
ORPHA:457260DiseaseX-linked dominantAdolescent, Childhood
Ассоциированные гены1
Фенотипы (HPO)23
Облигатный (100%)1
HP:0001249Intellectual disability
Частый (30–79%)9
HP:0000252Microcephaly
HP:0000504Abnormality of vision
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0000752Hyperactivity
HP:0001257Spasticity
HP:0001290Generalized hypotonia
HP:0002136Broad-based gait
HP:0100660Dyskinesia
Периодический (5–29%)13
HP:0000202Orofacial cleft
HP:0000365Hearing impairment
HP:0000505Visual impairment
HP:0000826Precocious puberty
HP:0001000Abnormality of skin pigmentation
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001382Joint hypermobility
HP:0001999Abnormal facial shape
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002539Cortical dysplasia
HP:0002650Scoliosis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 38 | 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)