OBO ID: DOID:0111788 |
Term Name: | Melnick-Needles syndrome | Search Ontology: | |
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Definition: | An otopalatodigital syndrome spectrum disorder characterized by short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems that has_material_basis_in heterozygous or hemizygous mutation in the FLNA gene on chromosome Xq28. (3) | ||
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Ontology: | Human Disease ( DOID:0111788 ) |
OTHER Melnick-Needles syndrome PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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