PLAA-associated neurodevelopmental disorder
ORPHA:521426Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)51
Частый (30–79%)46
HP:0000218High palate
HP:0000252Microcephaly
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000648Optic atrophy
HP:0000750Delayed speech and language development
HP:0000768Pectus carinatum
HP:0000954Single transverse palmar crease
HP:0001007Hirsutism
HP:0001162Postaxial hand polydactyly
HP:0001187Hyperextensibility of the finger joints
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001283Bulbar palsy
HP:0001332Dystonia
HP:0001508Failure to thrive
HP:0001830Postaxial foot polydactyly
HP:0001838Rocker bottom foot
HP:0001999Abnormal facial shape
HP:0002063Rigidity
HP:0002071Abnormality of extrapyramidal motor function
HP:0002079Hypoplasia of the corpus callosum
HP:0002093Respiratory insufficiency
HP:0002104Apnea
HP:0002119Ventriculomegaly
HP:0002267Exaggerated startle response
HP:0002352Leukoencephalopathy
HP:0002478Progressive spastic quadriplegia
HP:0002509Limb hypertonia
HP:0002521Hypsarrhythmia
HP:0002536Abnormal cortical gyration
HP:0002808Kyphosis
HP:0003196Short nose
HP:0005781Contractures of the large joints
HP:0007514Edema of the dorsum of hands
HP:0008278Cerebellar cortical atrophy
HP:0010804Tented upper lip vermilion
HP:0011968Feeding difficulties
HP:0012098Edema of the dorsum of feet
HP:0012448Delayed myelination
HP:0012762Cerebral white matter atrophy
HP:0031162Impaired oropharyngeal swallow response
HP:0100807Long fingers
Периодический (5–29%)5
HP:0000407Sensorineural hearing impairment
HP:0000639Nystagmus
HP:0000975Hyperhidrosis
HP:0001250Seizure
HP:0002483Bulbar signs
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 15 | 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)