FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
ORPHA:404451Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)18
Частый (30–79%)18
HP:0000028Cryptorchidism
HP:0000608Macular degeneration
HP:0000750Delayed speech and language development
HP:0001159Syndactyly
HP:0001260Dysarthria
HP:0001270Motor delay
HP:0001285Spastic tetraparesis
HP:0001332Dystonia
HP:0002120Cerebral cortical atrophy
HP:0002200Pseudobulbar signs
HP:0002307Drooling
HP:0002342Intellectual disability, moderate
HP:0003396Syringomyelia
HP:0007030Nonprogressive encephalopathy
HP:0008780Congenital bilateral hip dislocation
HP:0011506Choroidal neovascularization
HP:0012469Infantile spasms
HP:0031936Delayed ability to walk
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)