Term Name: | primary autosomal recessive microcephaly 28 |
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Synonyms: | |
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. |
Ontology: | Human Disease [DOID:0051039] ( DOID:0051039 ) |