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NEDHIB
MCID: NRD080
MIFTS: 23
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Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities (NEDHIB)
Categories:
Eye diseases, Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities:
Name: Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities
57
73
6
17
Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal dominant
Miscellaneous:
variable phenotype de novo mutation highly variable severity HPO:31
neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities:
Inheritance autosomal dominant germline de novo mutation Classifications: |
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OMIM® :
57
Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities (NEDHIB) is characterized by early-onset hypotonia, delayed walking, poor speech, and impaired intellectual development. Additional features may include feeding difficulties, dysmorphic features, and visual defects. Brain imaging tends to show delayed myelination, thin corpus callosum, and/or enlarged ventricles. The severity of the disorder is highly variable; initial evidence suggests that the severity may depend on the type of mutation (summary by Haijes et al., 2019). (618603) (Updated 05-Mar-2021)
MalaCards based summary : Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities, is also known as nedhib. An important gene associated with Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities is POLR2A (RNA Polymerase II Subunit A). Affiliated tissues include brain, skeletal muscle and globus pallidus, and related phenotypes are agenesis of corpus callosum and failure to thrive UniProtKB/Swiss-Prot : 73 Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities: An autosomal dominant neurodevelopmental disorder characterized by profound infantile-onset hypotonia, developmental delay with poor speech, delayed walking, and impaired intellectual development. Additional variable features include feeding difficulties, dysmorphic features, and visual defects. |
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Human phenotypes related to Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities:31 (show all 33)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618603 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities:40
Brain,
Skeletal Muscle,
Globus Pallidus
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Articles related to Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities:
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Genes related to Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities:6 (show all 17)
UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities:73
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Hypotonia and Variable Intellectual and Behavioral Abnormalities.
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