Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
ORPHA:314655Etiological subtypeUnknownInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)37
Частый (30–79%)20
HP:0000218High palate
HP:0000341Narrow forehead
HP:0000347Micrognathia
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0000750Delayed speech and language development
HP:0001270Motor delay
HP:0001319Neonatal hypotonia
HP:0002002Deep philtrum
HP:0002098Respiratory distress
HP:0002353EEG abnormality
HP:0005280Depressed nasal bridge
HP:0005338Sparse lateral eyebrow
HP:0005487Prominent metopic ridge
HP:0008872Feeding difficulties in infancy
HP:0010804Tented upper lip vermilion
HP:0010864Intellectual disability, severe
HP:0012444Brain atrophy
HP:0012448Delayed myelination
HP:0410263Brain imaging abnormality
Периодический (5–29%)17
HP:0000369Low-set ears
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0001250Seizure
HP:0001336Myoclonus
HP:0001627Abnormal heart morphology
HP:0002104Apnea
HP:0002791Hypoventilation
HP:0003196Short nose
HP:0006532Recurrent pneumonia
HP:0006829Severe muscular hypotonia
HP:0010442Polydactyly
HP:0011097Epileptic spasm
HP:0011098Speech apraxia
HP:0011167Focal tonic seizure
HP:0011951Aspiration pneumonia
HP:0025190Bilateral tonic-clonic seizure with generalized onset
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)