Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures (NEDCAS)

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OMIM 56 618056 MeSH 43 D065886

MedGen 41 C4748032 CN252657 SNOMED-CT via HPO 68 1023001 128613002 204043002 224958001 228156007 24199005 246545002 246635007 247578003 248583008 25136009 258211005 271611007 27272007 301348000 313307000 32566006 397540003 41581000 563001 56731001 78164000 7973008 84757009 86854008 91138005 91175000 95646004 more

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

Clinical features from OMIM:

618056

Search Clinical Trials , NIH Clinical Center for Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures

Search GEO for disease gene expression data for Neurodevelopmental Disorder with Cerebellar Atrophy and with or Without Seizures.