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POBINDS
MCID: PRR044
MIFTS: 16
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Poirier-Bienvenu Neurodevelopmental Syndrome (POBINDS)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Poirier-Bienvenu Neurodevelopmental Syndrome:
Name: Poirier-Bienvenu Neurodevelopmental Syndrome
56
6
Characteristics:OMIM:56
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy de novo mutation seizures may be refractory seizures may be responsive to levetiracetam treatment Classifications: |
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OMIM :
56
Poirier-Bienvenu neurodevelopmental syndrome (POBINDS) is a neurologic disorder characterized in most cases by early-onset seizures and variably impaired intellectual development (ID). The severity of neurologic impairment is highly variable: some patients may have refractory seizures and be bedridden with no meaningful speech, whereas others may have treatment-responsive seizures and achieve normal psychomotor development (summary by Li et al., 2019). (618732)
MalaCards based summary : Poirier-Bienvenu Neurodevelopmental Syndrome, is also known as pobinds. An important gene associated with Poirier-Bienvenu Neurodevelopmental Syndrome is CSNK2B (Casein Kinase 2 Beta). Affiliated tissues include tongue. |
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Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618732 |
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MalaCards organs/tissues related to Poirier-Bienvenu Neurodevelopmental Syndrome:40
Tongue
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Articles related to Poirier-Bienvenu Neurodevelopmental Syndrome:
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Genes related to Poirier-Bienvenu Neurodevelopmental Syndrome (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Poirier-Bienvenu Neurodevelopmental Syndrome:6
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Search
GEO
for disease gene expression data for Poirier-Bienvenu Neurodevelopmental Syndrome.
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