Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
ORPHA:488627Malformation syndromeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)4
HP:0000280Coarse facial features
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001531Failure to thrive in infancy
Частый (30–79%)10
HP:0000093Proteinuria
HP:0000253Progressive microcephaly
HP:0001288Gait disturbance
HP:0002120Cerebral cortical atrophy
HP:0002187Intellectual disability, profound
HP:0002465Poor speech
HP:0007052Multifocal cerebral white matter abnormalities
HP:0007334Bilateral tonic-clonic seizure with focal onset
HP:0012213Decreased glomerular filtration rate
HP:0012622Chronic kidney disease
Периодический (5–29%)26
HP:0000100Nephrotic syndrome
HP:0000407Sensorineural hearing impairment
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000592Blue sclerae
HP:0000639Nystagmus
HP:0000709Psychosis
HP:0000718Aggressive behavior
HP:0000961Cyanosis
HP:0001260Dysarthria
HP:0001290Generalized hypotonia
HP:0001344Absent speech
HP:0001347Hyperreflexia
HP:0001970Tubulointerstitial nephritis
HP:0002015Dysphagia
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002141Gait imbalance
HP:0002193Pseudobulbar behavioral symptoms
HP:0002367Visual hallucinations
HP:0002857Genu valgum
HP:0006956Dilation of lateral ventricles
HP:0006989Dysplastic corpus callosum
HP:0040329Multifocal hyperintensity of cerebral white matter on MRI
HP:0100702Arachnoid cyst
HP:0100814Blue nevus
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)