19p13.13 microdeletion syndrome
ORPHA:357001Malformation syndromeUnknownInfancy, Neonatal
Фенотипы (HPO)47
Очень частый (80–99%)3
HP:0000256Macrocephaly
HP:0001999Abnormal facial shape
HP:0011220Prominent forehead
Частый (30–79%)9
HP:0000276Long face
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000767Pectus excavatum
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0007018Attention deficit hyperactivity disorder
HP:0012719Functional abnormality of the gastrointestinal tract
Периодический (5–29%)35
HP:0000158Macroglossia
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000248Brachycephaly
HP:0000268Dolichocephaly
HP:0000272Malar flattening
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000369Low-set ears
HP:0000400Macrotia
HP:0000490Deeply set eye
HP:0000527Long eyelashes
HP:0000609Optic nerve hypoplasia
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000957Cafe-au-lait spot
HP:0001250Seizure
HP:0001763Pes planus
HP:0001852Sandal gap
HP:0001869Deep plantar creases
HP:0002013Vomiting
HP:0002014Diarrhea
HP:0002027Abdominal pain
HP:0003196Short nose
HP:0003396Syringomyelia
HP:0005280Depressed nasal bridge
HP:0007099Chiari type I malformation
HP:0007333Hypoplasia of the frontal lobes
HP:0007371Corpus callosum atrophy
HP:0010880Increased nuchal translucency
HP:0011968Feeding difficulties
HP:0030084Clinodactyly
HP:0100807Long fingers
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)