Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
ORPHA:404473Malformation syndromeUnknownInfancy
Ассоциированные гены1
Фенотипы (HPO)32
Очень частый (80–99%)7
HP:0000252Microcephaly
HP:0001249Intellectual disability
HP:0001257Spasticity
HP:0001270Motor delay
HP:0001999Abnormal facial shape
HP:0002465Poor speech
HP:0008936Axial hypotonia
Частый (30–79%)4
HP:0000478Abnormality of the eye
HP:0000708Atypical behavior
HP:0002376Developmental regression
HP:0011451Congenital microcephaly
Периодический (5–29%)19
HP:0000219Thin upper lip vermilion
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000430Underdeveloped nasal alae
HP:0000455Broad nasal tip
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000718Aggressive behavior
HP:0000729Autistic behavior
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002144Tethered cord
HP:0002188Delayed CNS myelination
HP:0002360Sleep abnormality
HP:0003396Syringomyelia
HP:0009765Low hanging columella
HP:0025160Abnormal temper tantrums
HP:0100716Self-injurious behavior
Очень редкий (1–4%)2
HP:0000365Hearing impairment
HP:0001250Seizure
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)