ONTOLOGY REPORT - ANNOTATIONS


Term:Microcephaly, Growth Deficiency, Seizures, and Brain Malformations
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Accession:DOID:9009317 term browser browse the term
Definition:Microcephaly, growth deficiency, seizures, and brain malformations (MIGSB) is a severe autosomal recessive disorder characterized by intrauterine growth retardation, postnatal growth deficiency with severe microcephaly, and poor or absent psychomotor development. Additional features include optic atrophy, early-onset seizures, dysmorphic facial features, and brain malformations, such as partial agenesis of the corpus callosum and simplified gyration. MIGSB is caused by homozygous mutation in the WDR4 gene on chromosome 21q22. (OMIM)
Synonyms:exact_synonym: MIGSB
 primary_id: OMIM:618346
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Microcephaly, Growth Deficiency, Seizures, and Brain Malformations term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Wdr4 WD repeat domain 4 JBrowse link 20 10,240,571 10,264,818 RGD:7240710

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Term Annotations click to browse term
  disease 14875
    physical disorder 742
      congenital nervous system abnormality 299
        microcephaly 208
          Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        central nervous system disease 6913
          brain disease 6418
            complex cortical dysplasia with other brain malformations 420
              Malformations of Cortical Development, Group I 275
                microcephaly 208
                  Microcephaly, Growth Deficiency, Seizures, and Brain Malformations 1
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