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NEDBAF
MCID: NRD079
MIFTS: 17
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Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies (NEDBAF)
Categories:
Genetic diseases, Neuronal diseases
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Aliases & Classifications for Neurodevelopmental Disorder with Structural Brain Anomalies and...
MalaCards integrated aliases for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:Characteristics:Classifications: |
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UniProtKB/Swiss-Prot :
73
Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, poor language, seizures, dysmorphic features, and thin corpus callosum.
MalaCards based summary : Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies, is also known as nedbaf. An important gene associated with Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies is RAC3 (Rac Family Small GTPase 3). Affiliated tissues include brain and eye.
More information from OMIM:
618577
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Symptoms & Phenotypes for Neurodevelopmental Disorder with Structural Brain Anomalies and...
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618577 |
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MalaCards organs/tissues related to Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:40
Brain,
Eye
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Articles related to Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:
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Genes related to Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies:6
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Structural Brain Anomalies and Dysmorphic Facies.
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