Multiple congenital anomalies-hypotonia-seizures syndrome
ORPHA:280633Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)86
Очень частый (80–99%)5
HP:0000639Nystagmus
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0006829Severe muscular hypotonia
HP:0011344Severe global developmental delay
Частый (30–79%)17
HP:0000218High palate
HP:0000280Coarse facial features
HP:0000486Strabismus
HP:0001156Brachydactyly
HP:0001182Tapered finger
HP:0001265Hyporeflexia
HP:0001337Tremor
HP:0001615Hoarse cry
HP:0001655Patent foramen ovale
HP:0001773Short foot
HP:0002020Gastroesophageal reflux
HP:0004488Macrocephaly at birth
HP:0008872Feeding difficulties in infancy
HP:0010291Prominent palatine ridges
HP:0011247Prominent superior crus of antihelix
HP:0012448Delayed myelination
HP:0200055Small hand
Периодический (5–29%)64
HP:0000034Hydrocele testis
HP:0000072Hydroureter
HP:0000126Hydronephrosis
HP:0000154Wide mouth
HP:0000160Narrow mouth
HP:0000212Gingival overgrowth
HP:0000219Thin upper lip vermilion
HP:0000269Prominent occiput
HP:0000286Epicanthus
HP:0000293Full cheeks
HP:0000308Microretrognathia
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000350Small forehead
HP:0000396Overfolded helix
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000498Blepharitis
HP:0000565Esotropia
HP:0000582Upslanted palpebral fissure
HP:0000646Amblyopia
HP:0000664Synophrys
HP:0000774Narrow chest
HP:0000932Abnormality of the posterior cranial fossa
HP:0001272Cerebellar atrophy
HP:0001347Hyperreflexia
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001667Right ventricular hypertrophy
HP:0001761Pes cavus
HP:0001804Hypoplastic fingernail
HP:0002015Dysphagia
HP:0002023Anal atresia
HP:0002025Anal stenosis
HP:0002079Hypoplasia of the corpus callosum
HP:0002092Pulmonary arterial hypertension
HP:0002100Recurrent aspiration pneumonia
HP:0002119Ventriculomegaly
HP:0002265Large fleshy ears
HP:0002286Fair hair
HP:0002305Athetosis
HP:0002616Aortic root aneurysm
HP:0002951Partial absence of cerebellar vermis
HP:0003196Short nose
HP:0003324Generalized muscle weakness
HP:0004681Deep longitudinal plantar crease
HP:0004742Abnormal renal collecting system morphology
HP:0004969Peripheral pulmonary artery stenosis
HP:0005830Flexion contracture of toe
HP:0006165Proportionate shortening of all digits
HP:0006254Elevated alpha-fetoprotein
HP:0007441Hyperpigmented/hypopigmented macules
HP:0008551Microtia
HP:0008635Urinary bladder wall hypertrophy
HP:0008676Congenital megaureter
HP:0008718Unilateral renal dysplasia
HP:0008994Proximal muscle weakness in lower limbs
HP:0010282Thin lower lip vermilion
HP:0010544Vertical nystagmus
HP:0010804Tented upper lip vermilion
HP:0010880Increased nuchal translucency
HP:0011271Prominent tragus
HP:0011333Asymmetric crying face
HP:0025025Rectovestibular fistula
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)