12q14 microdeletion syndrome
ORPHA:94063Malformation syndromeUnknownChildhood
Ассоциированные гены2
Фенотипы (HPO)37
Очень частый (80–99%)8
HP:0000316Hypertelorism
HP:0000750Delayed speech and language development
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0004322Short stature
Частый (30–79%)3
HP:0000953Hyperpigmentation of the skin
HP:0001337Tremor
HP:0010739Osteopoikilosis
Периодический (5–29%)26
HP:0000085Horseshoe kidney
HP:0000086Ectopic kidney
HP:0000089Renal hypoplasia
HP:0000233Thin vermilion border
HP:0000252Microcephaly
HP:0000325Triangular face
HP:0000347Micrognathia
HP:0000426Prominent nasal bridge
HP:0000445Wide nose
HP:0000490Deeply set eye
HP:0000574Thick eyebrow
HP:0000664Synophrys
HP:0000668Hypodontia
HP:0000819Diabetes mellitus
HP:0001252Hypotonia
HP:0001482Subcutaneous nodule
HP:0001743Abnormality of the spleen
HP:0002007Frontal bossing
HP:0002308Chiari malformation
HP:0002566Intestinal malrotation
HP:0002650Scoliosis
HP:0002714Downturned corners of mouth
HP:0003202Skeletal muscle atrophy
HP:0003396Syringomyelia
HP:0004209Clinodactyly of the 5th finger
HP:0005288Abnormality of the nares
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 22 | 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)