Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
ORPHA:2269DiseaseAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)26
Очень частый (80–99%)6
HP:0001249Intellectual disability
HP:0002221Absent axillary hair
HP:0002293Alopecia of scalp
HP:0002555Absent pubic hair
HP:0005597Congenital alopecia totalis
HP:0007503Generalized ichthyosis
Частый (30–79%)11
HP:0000656Ectropion
HP:0000958Dry skin
HP:0000973Cutis laxa
HP:0001263Global developmental delay
HP:0002194Delayed gross motor development
HP:0002317Unsteady gait
HP:0005595Generalized hyperkeratosis
HP:0012472Eclabion
HP:0025092Epidermal acanthosis
HP:0031936Delayed ability to walk
HP:0040189Scaling skin
Периодический (5–29%)2
HP:0001344Absent speech
HP:0045075Sparse eyebrow
Исключён (0%)7
HP:0000135Hypogonadism
HP:0001103Abnormal macular morphology
HP:0001250Seizure
HP:0001257Spasticity
HP:0002063Rigidity
HP:0010550Paraplegia
HP:0030182Tetraplegia/tetraparesis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)