Xq12-q13.3 duplication syndrome
ORPHA:314389Malformation syndromeX-linked recessiveInfancy, Neonatal
Фенотипы (HPO)37
Очень частый (80–99%)35
HP:0000028Cryptorchidism
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000325Triangular face
HP:0000543Optic disc pallor
HP:0000649Abnormality of visual evoked potentials
HP:0000708Atypical behavior
HP:0000713Agitation
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0000767Pectus excavatum
HP:0010554Cutaneous finger syndactyly
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0000964Eczematoid dermatitis
HP:0004322Short stature
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002521Hypsarrhythmia
HP:0000232Everted lower lip vermilion
HP:0003236Elevated circulating creatine kinase concentration
HP:0003282Low alkaline phosphatase
HP:0003700Generalized amyotrophy
HP:00046912-3 toe syndactyly
HP:0005280Depressed nasal bridge
HP:0001054Numerous nevi
HP:0007328Impaired pain sensation
HP:0009908Anterior creases of earlobe
HP:0011265Cleft earlobe
HP:0011343Moderate global developmental delay
HP:0012751Abnormal basal ganglia MRI signal intensity
HP:0030353Decreased serum insulin-like growth factor 1
HP:0100739Bulimia
Частый (30–79%)2
HP:0002123Generalized myoclonic seizure
HP:0002788Recurrent upper respiratory tract infections
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)