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General Information
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| Term |
neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities |
ID (Ontology) |
DOID:0081263 (Human Disease) |
| Definition |
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, microcephaly, cataracts, and renal abnormalities and that has_material_basis_in homozygous mutation of the GEMIN4 gene on chromosome 17p13. |
| Also Known As |
"NEDMCR syndrome" |
| 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, cataracts, and renal abnormalities | 1 | 1 | 1 | model of | neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities | 1 | -- | -- |
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Relationships