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Term:multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly
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Accession:DOID:0080327 term browser browse the term
Definition:A syndrome that is characterized by severe hydranencephaly with almost complete absence of the cerebral hemispheres, which are replaced by fluid, relative preservation of the posterior fossa structures, and renal dysplasia or agenesis and has_material_basis_in autosomal recessive homozygous mutation in the CEP55 gene on chromosome 10q23. (DO)
Synonyms:exact_synonym: MARCH
 primary_id: OMIM:236500
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multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Cep55 centrosomal protein 55 JBrowse link 1 256,745,251 256,760,794 RGD:13592920
RGD:7240710

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  disease 14759
    syndrome 4210
      multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal recessive disease 1250
                multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia and hydranencephaly 1
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