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Metadata
ID DOID:0081236
Name autosomal recessive intellectual developmental disorder 77
Definition An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay with variably impaired cognitive development apparent from infancy and that has_material_basis_in homozygous mutation in the CEP104 gene on chromosome 1p36.
https://pubmed.ncbi.nlm.nih.gov/34196201/
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MIM:619988

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is_a autosomal recessive intellectual developmental disorder

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