syndromic hearing impairment Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description hearing impairment that is usually associated with malformations of the external ear and other inherited signs and symptoms (Mammalian Phenotype Ontology, MP_0006330)
External Link
Similar Terms
Downloads & Tools


6 gene mutations causing the syndromic hearing impairment phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
ATP2B2 ATPase, Ca++ transporting, plasma membrane 2
EMX2 empty spiracles homeobox 2
IGF1 insulin-like growth factor 1 (somatomedin C)
KCNQ1 potassium channel, voltage gated KQT-like subfamily Q, member 1
LMX1A LIM homeobox transcription factor 1, alpha
MARVELD2 MARVEL domain containing 2