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General Information
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| Term |
neurodevelopmental disorder with microcephaly, absent speech, and hypotonia |
ID (Ontology) |
DOID:0051030 (Human Disease) |
| Definition |
An autosomal recessive intellectual developmental disorder that is characterized by global developmental delay, hypotonia with virtually no motor skill acquisition, and profoundly impaired intellectual development with absent speech and that has_material_basis_in homozygous or compound heterozygous mutation in the FLVCR1 gene on chromosome 1q32. |
| Also Known As |
"NEDMISH" |
| 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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neurodevelopmental disorder with microcephaly, absent speech, and hypotonia | 1 | for disease ribbon | neurodevelopmental disorder with microcephaly, absent speech, and hypotonia | 1 | model of | neurodevelopmental disorder with microcephaly, absent speech, and hypotonia | 1 |
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Relationships