TABLE 2.

Human disorders with sensory deficits reported in human and their associated causative genes.

Gene name	Sensory deficits associated with human congenital disease	OMIM number and other references
EYA1	Branchiootic syndrome 1 Branchiootorenal syndrome 1, with or without cataracts	602588 113650
SIX1	Branchiootic syndrome 3 Deafness, autosomal dominant 23	608389 605192
NEUROG1	Congenital cranial dysinnervation disorder (Moebius syndrome variant)	Schröder et al. (2013)
NEUROD1	Permanent neonatal diabetes with neurological abnormalities	Rubio-Cabezas et al. (2010)
PHOX2B	Central hypoventilation syndrome, congenital, with or without Hirschsprung disease	209880
PRDM12	Neuropathy, hereditary sensory and autonomic, type VIII (or congenital insensitivity to pain) Midface toddler excoriation syndrome (MiTES)	616488 Moss et al. (2018); Inamadar et al. (2019)
GATA3	Hypoparathyroidism, sensorineural deafness and renal dysplasia	146255
C-MAF	Ayme-Gripp syndrome	601088