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General Information
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| Term |
intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies |
ID (Ontology) |
DOID:0081262 (Human Disease) |
| Definition |
An autosomal dominant intellectual developmental disorder that is characterized by global developmental delay with impaired intellectual development and poor or absent speech, hypotonia, ophthalmologic abnormalities, and nonspecific dysmorphic features, and that has_material_basis_in heterozygous mutation in the TNPO2 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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| Data Class | Field | Records |
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| Human Disease Models (FBhh) | DOID | 1 |
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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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| Alleles | Genes | Human Disease Models |
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intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 12 | 2 | 1 | for disease ribbon | intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | -- | 1 | -- | model of | intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies | 12 | 1 | -- |
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Relationships