X-linked intellectual disability, Najm type
ORPHA:163937DiseaseX-linked dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)5
HP:0000253Progressive microcephaly
HP:0001321Cerebellar hypoplasia
HP:0002342Intellectual disability, moderate
HP:0011344Severe global developmental delay
HP:0012110Hypoplasia of the pons
Частый (30–79%)29
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000316Hypertelorism
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000407Sensorineural hearing impairment
HP:0000431Wide nasal bridge
HP:0000455Broad nasal tip
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000545Myopia
HP:0000639Nystagmus
HP:0001250Seizure
HP:0001288Gait disturbance
HP:0001332Dystonia
HP:0002120Cerebral cortical atrophy
HP:0002360Sleep abnormality
HP:0002553Highly arched eyebrow
HP:0003196Short nose
HP:0008872Feeding difficulties in infancy
HP:0008936Axial hypotonia
HP:0008947Floppy infant
HP:0011097Epileptic spasm
HP:0012171Stereotypical hand wringing
HP:0032794Myoclonic seizure
HP:0034353Appendicular spasticity
HP:0200134Epileptic encephalopathy
Периодический (5–29%)12
HP:0000609Optic nerve hypoplasia
HP:0000648Optic atrophy
HP:0000729Autistic behavior
HP:0001257Spasticity
HP:0001344Absent speech
HP:0001508Failure to thrive
HP:0002063Rigidity
HP:0002317Unsteady gait
HP:0002650Scoliosis
HP:0003508Proportionate short stature
HP:0100660Dyskinesia
HP:0000543Optic disc pallor
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 35 | 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)