MEND syndrome
ORPHA:401973Malformation syndromeX-linked recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)45
Очень частый (80–99%)2
HP:0003462Elevated 8-dehydrocholesterol
HP:0003465Elevated 8(9)-cholestenol
Частый (30–79%)39
HP:0000028Cryptorchidism
HP:0000218High palate
HP:0000238Hydrocephalus
HP:0000260Wide anterior fontanel
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000422Abnormality of the nasal bridge
HP:0000426Prominent nasal bridge
HP:0000472Long neck
HP:0000474Thickened nuchal skin fold
HP:0000506Telecanthus
HP:0000518Cataract
HP:0000568Microphthalmia
HP:0000582Upslanted palpebral fissure
HP:0000960Sacral dimple
HP:0001161Hand polydactyly
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001290Generalized hypotonia
HP:0001305Dandy-Walker malformation
HP:0001508Failure to thrive
HP:0001650Aortic valve stenosis
HP:0001845Overlapping toe
HP:0002079Hypoplasia of the corpus callosum
HP:0002509Limb hypertonia
HP:0002808Kyphosis
HP:0004322Short stature
HP:00046912-3 toe syndactyly
HP:0005590Spotty hypopigmentation
HP:0006958Abnormal auditory evoked potentials
HP:0008064Ichthyosis
HP:0009941Asymmetry of the mouth
HP:0010055Broad hallux
HP:0010557Overlapping fingers
HP:0011800Midface retrusion
HP:0012433Abnormal social behavior
HP:0100807Long fingers
Периодический (5–29%)4
HP:0000175Cleft palate
HP:0000718Aggressive behavior
HP:0000752Hyperactivity
HP:0001627Abnormal heart morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 24 | 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)