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General Information
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| Term |
neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy |
ID (Ontology) |
DOID:0060934 (Human Disease) |
| Definition |
An autosomal recessive intellectual developmental disorder characterized by global developmental delay, severe intellectual disability with poor or absent speech and autistic stereotypic behaviors, microcephaly, early-onset generalized seizures, and hypotonia that has_material_basis_in homozygous mutation in the TRAPPC6B gene on chromosome 14q21. |
| Also Known As |
"NEDMEBA" |
| 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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| 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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neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 1 | 1 | 1 | for disease ribbon | neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | -- | 1 | -- | model of | neurodevelopmental disorder with microcephaly, epilepsy, and brain atrophy | 1 | 1 | -- |
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Relationships