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Metadata
ID DOID:0051038
Name autosomal dominant primary microcephaly 27
Definition A primary microcephaly that is characterized by small head circumference apparent in early childhood and associated with global developmental delay manifest as delayed walking, inability to walk, impaired intellectual development, and poor or absent speech and that has_material_basis_in heterozygous mutation in the LMNB2 gene on chromosome 19p13.
https://pubmed.ncbi.nlm.nih.gov/33033404/
Xrefs

MIM:619180

Parent Relationships

is_a autosomal dominant primary microcephaly

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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