Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
ORPHA:500159Malformation syndromeAutosomal dominantChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)2
HP:0001249Intellectual disability
HP:0001263Global developmental delay
Частый (30–79%)11
HP:0000252Microcephaly
HP:0000708Atypical behavior
HP:0000733Abnormal repetitive mannerisms
HP:0001250Seizure
HP:0001270Motor delay
HP:0001344Absent speech
HP:0001627Abnormal heart morphology
HP:0002465Poor speech
HP:0008872Feeding difficulties in infancy
HP:0008947Floppy infant
HP:0011968Feeding difficulties
Периодический (5–29%)37
HP:0000028Cryptorchidism
HP:0000047Hypospadias
HP:0000194Open mouth
HP:0000256Macrocephaly
HP:0000363Abnormality of earlobe
HP:0000403Recurrent otitis media
HP:0000407Sensorineural hearing impairment
HP:0000426Prominent nasal bridge
HP:0000463Anteverted nares
HP:0000819Diabetes mellitus
HP:0000964Eczematoid dermatitis
HP:0001321Cerebellar hypoplasia
HP:0001357Plagiocephaly
HP:0001382Joint hypermobility
HP:0001537Umbilical hernia
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0001647Bicuspid aortic valve
HP:0001655Patent foramen ovale
HP:0001999Abnormal facial shape
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002126Polymicrogyria
HP:0002280Enlarged cisterna magna
HP:0002365Hypoplasia of the brainstem
HP:0002518Abnormal periventricular white matter morphology
HP:0002553Highly arched eyebrow
HP:0002650Scoliosis
HP:0002786Tracheobronchomalacia
HP:0003086Acromesomelia
HP:0006532Recurrent pneumonia
HP:0007033Cerebellar dysplasia
HP:0008527Congenital sensorineural hearing impairment
HP:0009237Short 5th finger
HP:0009765Low hanging columella
HP:0030515Moderately reduced visual acuity
HP:0200007Abnormal size of the palpebral fissures
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)