Metadata | |
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ID | DOID:0051039 |
Name | primary autosomal recessive microcephaly 28 |
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. https://pubmed.ncbi.nlm.nih.gov/33199730/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |