Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
ORPHA:544488DiseaseAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)56
Частый (30–79%)19
HP:0000256Macrocephaly
HP:0000316Hypertelorism
HP:0000400Macrotia
HP:0000414Bulbous nose
HP:0000490Deeply set eye
HP:0000653Sparse eyelashes
HP:0000718Aggressive behavior
HP:0001263Global developmental delay
HP:0001319Neonatal hypotonia
HP:0001488Bilateral ptosis
HP:0001520Large for gestational age
HP:0001561Polyhydramnios
HP:0001792Small nail
HP:0002003Large forehead
HP:0002223Absent eyebrow
HP:0007018Attention deficit hyperactivity disorder
HP:0008689Bilateral cryptorchidism
HP:0012520Dilation of Virchow-Robin spaces
HP:0030890Hyperintensity of cerebral white matter on MRI
Периодический (5–29%)37
HP:0000023Inguinal hernia
HP:0000278Retrognathia
HP:0000337Broad forehead
HP:0000384Preauricular skin tag
HP:0000407Sensorineural hearing impairment
HP:0000494Downslanted palpebral fissures
HP:0000561Absent eyelashes
HP:0000581Blepharophimosis
HP:0000708Atypical behavior
HP:0000902Rib fusion
HP:0000960Sacral dimple
HP:0001182Tapered finger
HP:0001250Seizure
HP:0001257Spasticity
HP:0001344Absent speech
HP:0001596Alopecia
HP:0001800Hypoplastic toenails
HP:0002099Asthma
HP:0002209Sparse scalp hair
HP:0002334Abnormality of the cerebellar vermis
HP:0002465Poor speech
HP:0002608Celiac disease
HP:0004209Clinodactyly of the 5th finger
HP:0006956Dilation of lateral ventricles
HP:0006989Dysplastic corpus callosum
HP:0007074Thick corpus callosum
HP:0007082Dilated third ventricle
HP:0007109Periventricular cysts
HP:0010880Increased nuchal translucency
HP:0011276Vascular skin abnormality
HP:0011309Tapered toe
HP:0012450Chronic constipation
HP:0032152Keratosis pilaris
HP:0032671Non-convulsive status epilepticus without coma
HP:0045075Sparse eyebrow
HP:0100716Self-injurious behavior
HP:0410018Recurrent ear infections
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 5 | 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)