Autosomal recessive chorioretinopathy-microcephaly syndrome
ORPHA:2518Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены3
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| PLK4 | polo like kinase 4 | Disease-causing germline mutation(s) in | gene with protein product | 605031 |
| TUBGCP6 | tubulin gamma complex component 6 | Disease-causing germline mutation(s) in | gene with protein product | 610053 |
| TUBGCP4 | tubulin gamma complex component 4 | Disease-causing germline mutation(s) in | gene with protein product | 609610 |
Фенотипы (HPO)22
Очень частый (80–99%)2
HP:0000252Microcephaly
HP:0007703Abnormality of retinal pigmentation
Частый (30–79%)20
HP:0000307Pointed chin
HP:0000340Sloping forehead
HP:0000411Protruding ear
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000486Strabismus
HP:0000499Abnormal eyelash morphology
HP:0000505Visual impairment
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001511Intrauterine growth retardation
HP:0002120Cerebral cortical atrophy
HP:0002269Abnormality of neuronal migration
HP:0002650Scoliosis
HP:0004322Short stature
HP:0004422Biparietal narrowing
HP:0007360Aplasia/Hypoplasia of the cerebellum
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)