Term Name: | Melnick-Needles syndrome |
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Synonyms: | Melnick-Needles osteodysplasty, MNS, osteodysplasty of Melnick and Needles |
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. |
Ontology: | Human Disease [DOID:0111788] ( DOID:0111788 ) |