17p13.3 microduplication syndrome
ORPHA:217385Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Ассоциированные гены2
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | Role in the phenotype of | gene with protein product | 601545 |
| YWHAE | tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein epsilon | Role in the phenotype of | gene with protein product | 605066 |
Фенотипы (HPO)19
Очень частый (80–99%)8
HP:0000160Narrow mouth
HP:0000316Hypertelorism
HP:0000348High forehead
HP:0000445Wide nose
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0002007Frontal bossing
HP:0003196Short nose
Частый (30–79%)3
HP:0000369Low-set ears
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
Периодический (5–29%)8
HP:0000023Inguinal hernia
HP:0000098Tall stature
HP:0000218High palate
HP:0001374Congenital hip dislocation
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0004209Clinodactyly of the 5th finger
HP:0008736Hypoplasia of penis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | 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)