CLCN4-related X-linked intellectual disability syndrome
ORPHA:485350DiseaseX-linked dominantChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)1
HP:0001263Global developmental delay
Частый (30–79%)6
HP:0000708Atypical behavior
HP:0001250Seizure
HP:0002120Cerebral cortical atrophy
HP:0002342Intellectual disability, moderate
HP:0002500Abnormal cerebral white matter morphology
HP:0010864Intellectual disability, severe
Периодический (5–29%)29
HP:0000252Microcephaly
HP:0000256Macrocephaly
HP:0000486Strabismus
HP:0000716Depression
HP:0000718Aggressive behavior
HP:0000722Compulsive behaviors
HP:0000729Autistic behavior
HP:0000739Anxiety
HP:0000752Hyperactivity
HP:0001336Myoclonus
HP:0002020Gastroesophageal reflux
HP:0002061Lower limb spasticity
HP:0002069Bilateral tonic-clonic seizure
HP:0002073Progressive cerebellar ataxia
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002121Generalized non-motor (absence) seizure
HP:0002384Focal impaired awareness seizure
HP:0002650Scoliosis
HP:0006970Periventricular leukomalacia
HP:0007302Bipolar affective disorder
HP:0008947Floppy infant
HP:0011167Focal tonic seizure
HP:0011193EEG with focal spikes
HP:0011968Feeding difficulties
HP:0012448Delayed myelination
HP:0012469Infantile spasms
HP:0100704Cerebral visual impairment
HP:0100716Self-injurious behavior
Очень редкий (1–4%)9
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000276Long face
HP:0000307Pointed chin
HP:0001763Pes planus
HP:0002072Chorea
HP:0002317Unsteady gait
HP:0006986Upper limb spasticity
HP:0011800Midface retrusion
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 38 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)