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Norman–roberts syndrome
lissencephaly that has_material_basis_in homozygous mutation in the gene encoding reelin (RELN) on chromosome 7q22.
Pronunciation
/ˈnɔːmən – ˈrɒbəts ˈsɪndrəʊm/
/ˈnɔrmən – ˈrɑbərts ˈsɪnˌdroʊm/
Categories
autosomal recessive disease
lissencephaly
genetic disease
Microlissencephaly
rare disease