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General Information
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| Term |
autosomal dominant primary microcephaly 27 |
ID (Ontology) |
DOID:0051038 (Human Disease) |
| 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. |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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autosomal dominant primary microcephaly 27 | 2 | for disease ribbon | autosomal dominant primary microcephaly 27 | 2 | model of | autosomal dominant primary microcephaly 27 | 2 |
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