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GENE - TERM ANNOTATION REPORT

RGD ID: 18901898
Species: Heterocephalus glaber
RGD Object: Gene
Symbol: Gad1
Name: glutamate decarboxylase 1
Acc ID: DOID:9004548
Term: Neurodevelopmental Disorder with Progressive Spasticity and Brain White Matter Abnormalities
Definition: An autosomal recessive disorder characterized by impaired psychomotor development apparent in infancy. Affected individuals show poor overall growth, progressive microcephaly, and axial hypotonia, with later onset of spasticity. Brain imaging shows variable white matter abnormalities, including thin corpus callosum and poor myelination
Definition Source(s): MIM:619026
Note: Use of the qualifier "multiple interactions" designates that the annotated interaction is comprised of a complex set of reactions and/or regulatory events, possibly involving additional chemicals and/or gene products.
Object SymbolQualifierEvidenceWithReferenceSourceNotesOriginal Reference(s)
Gad1 ISOGAD1 (Homo sapiens)8554872ClinVarClinVar Annotator: match by term: Neurodevelopmental disorder with progressive spasticity and brain white matter abnormalitiesPMID:15571623 PMID:16199547 PMID:17576681 PMID:22662185 PMID:25741868 PMID:28492532 PMID:28832565 PMID:32282878 PMID:32705143 PMID:33634263 PMID:9084927 PMID:9536098
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