Melnick-Needles syndrome Gene Set

Dataset ClinVar Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description Osteodysplasty, Melnick-Needles type (MNS) is a severe form of frontootopalatodigital syndrome (see this term) and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in significant effects on the craniofacial skeleton including impaired speech and masticatory problems. (Orphanet Rare Disease Ontology, Orphanet_2484)
External Link http://www.omim.org/entry/309350
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Genes

1 genes associated with the Melnick-Needles syndrome phenotype from the curated ClinVar Gene-Phenotype Associations dataset.

Symbol Name
FLNA filamin A, alpha