Lelis syndrome
ORPHA:140936Malformation syndromeAutosomal recessiveAdolescent, Adult, Childhood
Фенотипы (HPO)22
Облигатный (100%)3
HP:0000956Acanthosis nigricans
HP:0000966Hypohidrosis
HP:0008070Sparse hair
Очень частый (80–99%)1
HP:0000153Abnormality of the mouth
Частый (30–79%)6
HP:0000221Furrowed tongue
HP:0000668Hypodontia
HP:0000972Palmoplantar hyperkeratosis
HP:0001249Intellectual disability
HP:0008404Nail dystrophy
HP:0010802Perioral hyperpigmentation
Периодический (5–29%)12
HP:0000276Long face
HP:0000303Mandibular prognathia
HP:0000577Exotropia
HP:0000582Upslanted palpebral fissure
HP:0000670Carious teeth
HP:0001045Vitiligo
HP:0001620Abnormally high-pitched voice
HP:0005338Sparse lateral eyebrow
HP:0007646Absent lower eyelashes
HP:0008388Abnormal toenail morphology
HP:0011367Yellow nails
HP:0011800Midface retrusion
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)