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NEDIDHA
MCID: NRD060
MIFTS: 17
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Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia (NEDIDHA)
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
56
73
6
Characteristics:OMIM:56
Inheritance:
autosomal recessive
Miscellaneous:
onset in early infancy three patients from 2 unrelated families have been reported (last curated january 2019) HPO:31
neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia:
Inheritance autosomal recessive inheritance Classifications: |
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UniProtKB/Swiss-Prot :
73
Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia: An autosomal recessive disease characterized by global developmental delay, hypotonia, ataxic gait, hyporeflexia, poor or absent speech, and variable and mild dysmorphic features.
MalaCards based summary : Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia, is also known as nedidha. An important gene associated with Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia is DOCK3 (Dedicator Of Cytokinesis 3). Related phenotypes are high palate and global developmental delay
More information from OMIM:
618292
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Human phenotypes related to Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia:31 (show all 14)
Symptoms via clinical synopsis from OMIM:56Clinical features from OMIM:618292 |
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Articles related to Neurodevelopmental Disorder with Impaired Intellectual Development, Hypotonia, and Ataxia:
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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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