primary autosomal recessive microcephaly 28 Disease Ontology Browser

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Disease Ontology Browser

primary autosomal recessive microcephaly 28 (DOID:0051039)
Alliance: disease page
Alt IDs: OMIM:619453
Definition: A primary autosomal recessive microcephaly that is characterized by reduced head size (down to -8 SD) and variably impaired intellectual development apparent from early childhood and that has_material_basis_in homozygous mutation in the RRP7A gene on chromosome 22q13.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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