NEDCAS
MCID: NRD052
MIFTS: 24
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Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures (NEDCAS)
Categories:
Genetic diseases, Neuronal diseases
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Aliases & Classifications for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...
MalaCards integrated aliases for Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:
Characteristics:HPO:31
neurodevelopmental disorder with cerebellar atrophy and with or without seizures:
Inheritance autosomal recessive inheritance Onset and clinical course infantile onset Classifications: |
UniProtKB/Swiss-Prot :
73
Neurodevelopmental disorder with cerebellar atrophy and with or without seizures: An autosomal recessive disorder characterized by psychomotor developmental delay manifesting in infancy, cerebellar atrophy, decreased myelination, and seizures in most patients. Additional features include intellectual disability, ataxia or dyspraxia, hypertonia, hyperreflexia, poor or absent speech, microcephaly, subtle dysmorphisms, and visual impairment in some patients.
MalaCards based summary : Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures, is also known as nedcas. An important gene associated with Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures is BRAT1 (BRCA1 Associated ATM Activator 1). Affiliated tissues include eye, and related phenotypes are visual impairment and intellectual disability
More information from OMIM:
618056
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Symptoms & Phenotypes for Neurodevelopmental Disorder with Cerebellar Atrophy and with or...
Human phenotypes related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:31 (show all 26)
Symptoms via clinical synopsis from OMIM®:57 (Updated 05-Mar-2021)Clinical features from OMIM®:618056 (Updated 05-Mar-2021) |
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MalaCards organs/tissues related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:40
Eye
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Articles related to Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:
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ClinVar genetic disease variations for Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures:6 (show all 12)
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Search
GEO
for disease gene expression data for Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures.
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