Hypotonia-speech impairment-severe cognitive delay syndrome
ORPHA:371364DiseaseAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)55
Очень частый (80–99%)9
HP:0000486Strabismus
HP:0000565Esotropia
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001344Absent speech
HP:0008947Floppy infant
HP:0009884Tapered distal phalanges of finger
HP:0010864Intellectual disability, severe
Частый (30–79%)31
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000319Smooth philtrum
HP:0000322Short philtrum
HP:0000325Triangular face
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000426Prominent nasal bridge
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0001166Arachnodactyly
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001319Neonatal hypotonia
HP:0001357Plagiocephaly
HP:0001525Severe failure to thrive
HP:0001762Talipes equinovarus
HP:0001999Abnormal facial shape
HP:0002007Frontal bossing
HP:0002019Constipation
HP:0002353EEG abnormality
HP:0002650Scoliosis
HP:0004322Short stature
HP:0004326Cachexia
HP:0009931Enlarged naris
HP:0010804Tented upper lip vermilion
HP:0011968Feeding difficulties
HP:0100660Dyskinesia
HP:0100963Hyperesthesia
HP:0200055Small hand
Периодический (5–29%)15
HP:0000470Short neck
HP:0000639Nystagmus
HP:0001511Intrauterine growth retardation
HP:0002079Hypoplasia of the corpus callosum
HP:0002360Sleep abnormality
HP:0002510Spastic tetraplegia
HP:0002870Obstructive sleep apnea
HP:0002987Elbow flexion contracture
HP:0003273Hip contracture
HP:0003458EMG: myopathic abnormalities
HP:0006380Knee flexion contracture
HP:0008936Axial hypotonia
HP:0011470Nasogastric tube feeding in infancy
HP:0100024Conspicuously happy disposition
HP:0100716Self-injurious behavior
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)