PYCR2-related microcephaly-progressive leukoencephalopathy
ORPHA:481152Malformation syndromeAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)62
Очень частый (80–99%)7
HP:0000253Progressive microcephaly
HP:0001249Intellectual disability
HP:0001344Absent speech
HP:0001508Failure to thrive
HP:0002540Inability to walk
HP:0011344Severe global developmental delay
HP:0011968Feeding difficulties
Частый (30–79%)15
HP:0000327Hypoplasia of the maxilla
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000414Bulbous nose
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001999Abnormal facial shape
HP:0002013Vomiting
HP:0002079Hypoplasia of the corpus callosum
HP:0002376Developmental regression
HP:0003202Skeletal muscle atrophy
HP:0003429CNS hypomyelination
HP:0007258Severe demyelination of the white matter
HP:0030890Hyperintensity of cerebral white matter on MRI
Периодический (5–29%)40
HP:0000218High palate
HP:0000233Thin vermilion border
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000325Triangular face
HP:0000341Narrow forehead
HP:0000343Long philtrum
HP:0000365Hearing impairment
HP:0000396Overfolded helix
HP:0000400Macrotia
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0000565Esotropia
HP:0000582Upslanted palpebral fissure
HP:0000639Nystagmus
HP:0000718Aggressive behavior
HP:0000737Irritability
HP:0000768Pectus carinatum
HP:0000924Abnormality of the skeletal system
HP:0001166Arachnodactyly
HP:0001251Ataxia
HP:0001274Agenesis of corpus callosum
HP:0001288Gait disturbance
HP:0001347Hyperreflexia
HP:0001371Flexion contracture
HP:0001382Joint hypermobility
HP:0002069Bilateral tonic-clonic seizure
HP:0002283Global brain atrophy
HP:0002365Hypoplasia of the brainstem
HP:0002465Poor speech
HP:0002509Limb hypertonia
HP:0002827Hip dislocation
HP:0005072Hyperextensibility at wrists
HP:0005659Thoracic kyphoscoliosis
HP:0006460Increased laxity of ankles
HP:0010055Broad hallux
HP:0011166Focal myoclonic seizure
HP:0011229Broad eyebrow
HP:0011304Broad thumb
HP:0100704Cerebral visual impairment
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 18 | 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)