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MCID: NRD060
MIFTS: 11
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Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
Categories:
Genetic diseases, Neuronal diseases
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MalaCards integrated aliases for Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia:
Name: Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia
58
6
Characteristics:OMIM:58
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy three patients from 2 unrelated families have been reported (last curated january 2019) Classifications: |
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MalaCards based summary
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Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia, is also known as neurodevelopmental disorder, impaired intellectual development, hypotonia, and ataxia. An important gene associated with Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia is DOCK3 (Dedicator Of Cytokinesis 3).
Description from OMIM:
618292
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Symptoms via clinical synopsis from OMIM:58Clinical features from OMIM:618292 |
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Genes related to Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia:6
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia.
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