X-linked intellectual disability-cerebellar hypoplasia syndrome
ORPHA:137831DiseaseX-linked dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)33
Очень частый (80–99%)3
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001321Cerebellar hypoplasia
Частый (30–79%)18
HP:0012760Reduced social responsiveness
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000729Autistic behavior
HP:0000817Reduced eye contact
HP:0001251Ataxia
HP:0001252Hypotonia
HP:0001290Generalized hypotonia
HP:0001999Abnormal facial shape
HP:0002119Ventriculomegaly
HP:0002123Generalized myoclonic seizure
HP:0002167Abnormality of speech or vocalization
HP:0002342Intellectual disability, moderate
HP:0002384Focal impaired awareness seizure
HP:0002465Poor speech
HP:0002951Partial absence of cerebellar vermis
HP:0010864Intellectual disability, severe
HP:0400000Tall chin
Периодический (5–29%)12
HP:0000303Mandibular prognathia
HP:0000431Wide nasal bridge
HP:0000448Prominent nose
HP:0002080Intention tremor
HP:0002172Postural instability
HP:0002280Enlarged cisterna magna
HP:0002340Caudate atrophy
HP:0006817Aplasia/Hypoplasia of the cerebellar vermis
HP:0006913Frontal cortical atrophy
HP:0006951Retrocerebellar cyst
HP:0007018Attention deficit hyperactivity disorder
HP:0007112Temporal cortical atrophy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | Worldwide | Family(ies) |
| 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)