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General Information
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| Term |
spastic tetraplegia, thin corpus callosum, and progressive microcephaly |
ID (Ontology) |
DOID:0070537 (Human Disease) |
| Definition |
An autosomal recessive intellectual developmental disorder characterized by neonatal or infantile onset of spastic tetraplegia, thin corpus callosum, progressive microcephaly, and severely impaired global development that has_material_basis_in homozygous or compound heterozygous mutation in the SLC1A4 gene on chromosome 2p14. |
| Also Known As |
"SPATCCM" |
| 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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spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 1 | for disease ribbon | spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 1 | model of | spastic tetraplegia, thin corpus callosum, and progressive microcephaly | 1 |
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Relationships