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General Information
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| Term |
neurodevelopmental disorder with cerebellar atrophy and motor dysfunction |
ID (Ontology) |
DOID:0070443 (Human Disease) |
| Definition |
An autosomal recessive intellectual developmental disorder characterized by cerebellar atrophy and global developmental delay with cognitive impairment, speech delay, and prominent motor abnormalities including axial hypotonia, gait ataxia, and appendicular spasticity that has_material_basis_in homozygous or compound heterozygous mutation in the GEMIN5 gene on chromosome 5q33.2. |
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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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| Alleles (FBal) | HUMAN_DISEASE_INTERACTIONS | 1 | | 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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neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 1 | 1 | 1 | for disease ribbon | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | -- | 1 | -- | model of | neurodevelopmental disorder with cerebellar atrophy and motor dysfunction | 1 | 1 | -- |
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Relationships