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NEDMIBA
MCID: NRD070
MIFTS: 19
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Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies (NEDMIBA)
Categories:
Genetic diseases, Neuronal diseases
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Aliases & Classifications for Neurodevelopmental Disorder with Microcephaly and Structural...
MalaCards integrated aliases for Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:Characteristics:OMIM®:57 (Updated 05-Mar-2021)
Inheritance:
autosomal recessive
Miscellaneous:
onset in infancy three unrelated families have been reported (last curated july 2019) HPO:31
neurodevelopmental disorder with microcephaly and structural brain anomalies:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications: |
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UniProtKB/Swiss-Prot :
73
Neurodevelopmental disorder with microcephaly and structural brain anomalies: An autosomal recessive neurodevelopmental disorder characterized by global developmental delay, severe intellectual disability, microcephaly, dysmorphic facial features, and cerebral malformations including simplification of cerebral gyration, agenesis of the corpus callosum, and brainstem and white matter hypoplasia.
MalaCards based summary : Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies, is also known as nedmiba. An important gene associated with Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies is DYNC1I2 (Dynein Cytoplasmic 1 Intermediate Chain 2). Affiliated tissues include brain, and related phenotypes are agenesis of corpus callosum and dysarthria
More information from OMIM:
618492
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Human phenotypes related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:31 (show all 29)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618492 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:40
Brain
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Articles related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:
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Genes related to Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies (1 elite genes): - Elite gene
- Cancer Census gene in COSMIC
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:6
UniProtKB/Swiss-Prot genetic disease variations for Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies:73
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Microcephaly and Structural Brain Anomalies.
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