Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
ORPHA:457284Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)2
HP:0001249Intellectual disability
HP:0001250Seizure
Частый (30–79%)14
HP:0000194Open mouth
HP:0000297Facial hypotonia
HP:0000316Hypertelorism
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0001344Absent speech
HP:0001357Plagiocephaly
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002465Poor speech
HP:0002650Scoliosis
HP:0012448Delayed myelination
HP:0100704Cerebral visual impairment
Периодический (5–29%)22
HP:0000023Inguinal hernia
HP:0000122Unilateral renal agenesis
HP:0000151Aplasia of the uterus
HP:0000238Hydrocephalus
HP:0000324Facial asymmetry
HP:0000463Anteverted nares
HP:0000478Abnormality of the eye
HP:0000609Optic nerve hypoplasia
HP:0000752Hyperactivity
HP:0000767Pectus excavatum
HP:0001382Joint hypermobility
HP:0001385Hip dysplasia
HP:0003250Aplasia of the vagina
HP:0004209Clinodactyly of the 5th finger
HP:0005487Prominent metopic ridge
HP:0006955Olivopontocerebellar hypoplasia
HP:0010055Broad hallux
HP:0010721Abnormal hair whorl
HP:0011471Gastrostomy tube feeding in infancy
HP:0012304Hypoplastic aortic arch
HP:0025607Upper eyelid entropion
HP:0100259Postaxial polydactyly
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)