DISEASES

Disease-gene associations mined from literature

Human genes for Melnick-Needles syndrome

Melnick-Needles syndrome [DOID:0111788]

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 FLNA on chromosome Xq28.

Synonyms:  Melnick-Needles syndrome,  DOID:0111788,  MelnickNeedles syndrome,  Melnick-Needles disease,  Melnick-Needles disorder ...