X-linked intellectual disability, Hedera type
ORPHA:93952DiseaseX-linked recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)31
Очень частый (80–99%)2
HP:0001249Intellectual disability
HP:0002069Bilateral tonic-clonic seizure
Частый (30–79%)7
HP:0000750Delayed speech and language development
HP:0001270Motor delay
HP:0002317Unsteady gait
HP:0002600Hyporeflexia of lower limbs
HP:0007076Extrapyramidal muscular rigidity
HP:0010819Atonic seizure
HP:0012391Hyporeflexia of upper limbs
Периодический (5–29%)22
HP:0000338Hypomimic face
HP:0001272Cerebellar atrophy
HP:0001288Gait disturbance
HP:0001310Dysmetria
HP:0001350Slurred speech
HP:0001513Obesity
HP:0001621Weak voice
HP:0001712Left ventricular hypertrophy
HP:0001763Pes planus
HP:0001848Calcaneovalgus deformity
HP:0002079Hypoplasia of the corpus callosum
HP:0002186Apraxia
HP:0002307Drooling
HP:0002345Action tremor
HP:0002359Frequent falls
HP:0002540Inability to walk
HP:0002650Scoliosis
HP:0003438Absent Achilles reflex
HP:0003487Babinski sign
HP:0010527Astereognosia
HP:0010529Echolalia
HP:0011812Agraphesthesia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 9 | 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)