Metadata | |
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ID | DOID:0051037 |
Name | autosomal dominant primary microcephaly 26 |
Definition | A primary microcephaly that is characterized by progressive microcephaly beginning at birth and associated with global developmental delay with variably impaired intellectual development and that has_material_basis_in heterozygous mutation in the LMNB1 gene on chromosome 5q23. https://pubmed.ncbi.nlm.nih.gov/32910914/ |
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Parent Relationships | |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |