Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
ORPHA:457351Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)5
HP:0000252Microcephaly
HP:0000407Sensorineural hearing impairment
HP:0000505Visual impairment
HP:0001263Global developmental delay
HP:0002353EEG abnormality
Частый (30–79%)17
HP:0000729Autistic behavior
HP:0000817Reduced eye contact
HP:0001250Seizure
HP:0001257Spasticity
HP:0001344Absent speech
HP:0002069Bilateral tonic-clonic seizure
HP:0002121Generalized non-motor (absence) seizure
HP:0002123Generalized myoclonic seizure
HP:0002342Intellectual disability, moderate
HP:0002540Inability to walk
HP:0006808Cerebral hypomyelination
HP:0006863Severe expressive language delay
HP:0008947Floppy infant
HP:0010864Intellectual disability, severe
HP:0011352Severe receptive language delay
HP:0012443Abnormality of brain morphology
HP:0100704Cerebral visual impairment
Периодический (5–29%)20
HP:0000278Retrognathia
HP:0000430Underdeveloped nasal alae
HP:0001319Neonatal hypotonia
HP:0001873Thrombocytopenia
HP:0002019Constipation
HP:0002079Hypoplasia of the corpus callosum
HP:0002120Cerebral cortical atrophy
HP:0002283Global brain atrophy
HP:0002509Limb hypertonia
HP:0002521Hypsarrhythmia
HP:0002553Highly arched eyebrow
HP:0002721Immunodeficiency
HP:0003189Long nose
HP:0005280Depressed nasal bridge
HP:0010838High nonceruloplasmin-bound serum copper
HP:0011229Broad eyebrow
HP:0011290EEG with frontal sharp slow waves
HP:0011451Congenital microcephaly
HP:0012444Brain atrophy
HP:0012469Infantile spasms
Очень редкий (1–4%)8
HP:0000733Abnormal repetitive mannerisms
HP:0001631Atrial septal defect
HP:0002451Limb dystonia
HP:0002650Scoliosis
HP:0004532Sacral hypertrichosis
HP:0011471Gastrostomy tube feeding in infancy
HP:0020049Exodeviation
HP:0100716Self-injurious behavior
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | 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)