Distal 17p13.1 microdeletion syndrome
ORPHA:319171Malformation syndromeNot applicableInfancy, Neonatal
Фенотипы (HPO)23
Частый (30–79%)10
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000325Triangular face
HP:0000426Prominent nasal bridge
HP:0001270Motor delay
HP:0001999Abnormal facial shape
HP:0002172Postural instability
HP:0008947Floppy infant
HP:0011094Overbite
HP:0011343Moderate global developmental delay
Периодический (5–29%)13
HP:0000218High palate
HP:0000341Narrow forehead
HP:0000411Protruding ear
HP:0000490Deeply set eye
HP:0001166Arachnodactyly
HP:0002761Generalized joint laxity
HP:0002996Limited elbow movement
HP:0005469Flat occiput
HP:0005922Abnormal hand morphology
HP:0006927Unilateral polymicrogyria
HP:0010501Limitation of knee mobility
HP:0010669Hypoplasia of the zygomatic bone
HP:0010850EEG with spike-wave complexes
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 16 | 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)