NEDLIB
MCID: NRD104
MIFTS: 19
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Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities (NEDLIB)
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
onset in infancy highly variable phenotype de novo mutation HPO:31
neurodevelopmental disorder with language impairment and behavioral abnormalities:
Inheritance autosomal dominant inheritance Classifications: |
UniProtKB/Swiss-Prot :
73
Neurodevelopmental disorder with language impairment and behavioral abnormalities: A neurodevelopmental disorder characterized by global developmental delay, impaired intellectual development, poor or absent speech, and behavioral abnormalities, such as autism spectrum disorder, repetitive behaviors, and hyperactivity. Some patients develop seizures and manifest developmental regression.
MalaCards based summary : Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities, is also known as nedlib. An important gene associated with Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities is GRIA2 (Glutamate Ionotropic Receptor AMPA Type Subunit 2). Related phenotypes are intellectual disability and spasticity OMIM® : 57 Neurodevelopmental disorder with speech impairment and behavioral abnormalities (NEDLIB) is characterized by impaired intellectual development or developmental delay, behavioral abnormalities including autistic features, and language impairment. Other features include seizures and developmental regression (Salpietro et al., 2019). (618917) (Updated 05-Mar-2021) |
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Human phenotypes related to Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities:31 (show all 22)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618917 (Updated 05-Mar-2021) |
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Articles related to Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities:
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Language Impairment and Behavioral Abnormalities:6
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Search
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