X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
ORPHA:85317Malformation syndromeX-linked recessiveChildhood
Фенотипы (HPO)21
Очень частый (80–99%)9
HP:0000303Mandibular prognathia
HP:0000664Synophrys
HP:0000998Hypertrichosis
HP:0001250Seizure
HP:0002342Intellectual disability, moderate
HP:0002344Progressive neurologic deterioration
HP:0004313Decreased circulating antibody level
HP:0005487Prominent metopic ridge
HP:0007598Bilateral single transverse palmar creases
Частый (30–79%)12
HP:0000175Cleft palate
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000336Prominent supraorbital ridges
HP:0000411Protruding ear
HP:0001251Ataxia
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001324Muscle weakness
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0009830Peripheral neuropathy
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)