Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
ORPHA:1970Malformation syndromeAutosomal recessiveNeonatal
Фенотипы (HPO)29
Очень частый (80–99%)24
HP:0000164Abnormality of the dentition
HP:0000174Abnormal palate morphology
HP:0000256Macrocephaly
HP:0000280Coarse facial features
HP:0000286Epicanthus
HP:0000337Broad forehead
HP:0000348High forehead
HP:0000431Wide nasal bridge
HP:0000545Myopia
HP:0000574Thick eyebrow
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000664Synophrys
HP:0001007Hirsutism
HP:0001099Fundus atrophy
HP:0001305Dandy-Walker malformation
HP:0001821Broad nail
HP:0002650Scoliosis
HP:0004374Hemiplegia/hemiparesis
HP:0006887Intellectual disability, progressive
HP:0009882Short distal phalanx of finger
HP:0010864Intellectual disability, severe
HP:0011039Abnormality of the helix
HP:0000358Posteriorly rotated ears
Частый (30–79%)2
HP:0001250Seizure
HP:0001276Hypertonia
Периодический (5–29%)3
HP:0000046Small scrotum
HP:0001252Hypotonia
HP:0000028Cryptorchidism
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)