Acrofacial dysostosis, Weyers type
ORPHA:952Malformation syndromeAutosomal dominantNeonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| EVC | EvC ciliary complex subunit 1 | Disease-causing germline mutation(s) in | gene with protein product | 604831 |
| EVC2 | EvC ciliary complex subunit 2 | Disease-causing germline mutation(s) in | gene with protein product | 607261 |
| CTNNB1 | catenin beta 1 | Disease-causing germline mutation(s) (gain of function) in | gene with protein product | 116806 |
Фенотипы (HPO)19
Очень частый (80–99%)14
HP:0000164Abnormality of the dentition
HP:0000190Abnormal oral frenulum morphology
HP:0000668Hypodontia
HP:0000698Conical tooth
HP:0001162Postaxial hand polydactyly
HP:0001231Abnormal fingernail morphology
HP:0001792Small nail
HP:0001800Hypoplastic toenails
HP:0003502Mild short stature
HP:0006288Advanced eruption of teeth
HP:0006315Single median maxillary incisor
HP:0008388Abnormal toenail morphology
HP:0008404Nail dystrophy
HP:0100797Toenail dysplasia
Частый (30–79%)5
HP:0002006Facial cleft
HP:0004209Clinodactyly of the 5th finger
HP:0009738Abnormality of the antihelix
HP:0010557Overlapping fingers
HP:0200055Small hand
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)