Flynn-Aird syndrome
ORPHA:2047DiseaseAutosomal dominantChildhood
Фенотипы (HPO)30
Очень частый (80–99%)3
HP:0000408Progressive sensorineural hearing impairment
HP:0000545Myopia
HP:0004334Dermal atrophy
Частый (30–79%)19
HP:0000510Rod-cone dystrophy
HP:0000518Cataract
HP:0000726Dementia
HP:0001250Seizure
HP:0001251Ataxia
HP:0001387Joint stiffness
HP:0001596Alopecia
HP:0002353EEG abnormality
HP:0002376Developmental regression
HP:0002381Aphasia
HP:0002621Atherosclerosis
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003202Skeletal muscle atrophy
HP:0004326Cachexia
HP:0007328Impaired pain sensation
HP:0009830Peripheral neuropathy
HP:0012062Bone cyst
HP:0200042Skin ulcer
Периодический (5–29%)8
HP:0000505Visual impairment
HP:0000670Carious teeth
HP:0000820Abnormality of the thyroid gland
HP:0002120Cerebral cortical atrophy
HP:0002514Cerebral calcification
HP:0005978Type II diabetes mellitus
HP:0008207Primary adrenal insufficiency
HP:0100022Abnormality of movement
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 10 | 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)