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General Information
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| Term |
autosomal dominant intellectual developmental disorder 56 |
ID (Ontology) |
DOID:0080226 (Human Disease) |
| Definition |
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay, intellectual disability and in most cases hypotonia, delayed walking, poor fine motor skills, and poor or absent speech that has_material_basis_in heterozygous mutation in the CLTC gene on chromosome 17q23. |
| Also Known As |
"autosomal dominant intellectual developmental disorder-56" ; "autosomal dominant mental retardation 56" |
| Comment |
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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 intellectual developmental disorder 56 | 1 | for disease ribbon | autosomal dominant intellectual developmental disorder 56 | 1 | model of | autosomal dominant intellectual developmental disorder 56 | 1 |
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