DISEASES

Disease-gene associations mined from literature

Human genes for mulibrey nanism

Mulibrey nanism [DOID:0050436]

A long QY syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly.

Synonyms:  mulibrey nanism,  DOID:0050436,  Muscle-Liver-Brain-Eye Nanism,  Perheentupa Syndrome,  PERICARDIAL CONSTRICTION AND GROWTH FAILURE ...

Linkouts:  OMIM