Deafness Mutation Database
GENE LOCUS or SYNDROME Last Updated Gate Keeper Contact Information
CDH23 DFNB12 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Usher Syndrome, Type 1D
8/30/2002
 Robin Williamson rw001d@yahoo.com
CLD14 DFNB29 
8/30/2002
 Robin Williamson rw001d@yahoo.com
COCH DFNA9 
8/30/2002
 Robin Williamson rw001d@yahoo.com
COL2A1 Achondrogenesis II
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Hypochondrogenesis
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Kniest Dysplasia
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Spondylarthopathy
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Spondyloepiphyseal Dysplasia
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Stickler Syndrome, Type I
8/30/2002
 Robin Williamson rw001d@yahoo.com
COL4A3 Alport Syndrome 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Benign Familial Hematuria
8/30/2002
 Robin Williamson rw001d@yahoo.com
COL4A4 Alport Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Alport Syndrome Dominant
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Benign Familial Hematuria
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Thin Basement Membrane Disease
8/30/2002
 Robin Williamson rw001d@yahoo.com
COL4A5 Alport Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
COL11A1 Stickler Syndrome, Type II
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Marshall Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
COL11A2 DFNA13
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Osteochondrodysplasia
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Otospondylomegaepiphyseal
Dysplasia
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Stickler Syndrome, Type III
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Weissenbacher-Zweymuller
Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
DDP (TIMM8A) DFN1 = Mohr-Tranebjaerg 
8/30/2002
 Robin Williamson rw001d@yahoo.com
DFNA5  DFNA5
8/30/2002
 Robin Williamson rw001d@yahoo.com
DSPP DFNA39 -Dentinogenesis
Imperfecta 1
8/30/2002
 Robin Williamson rw001d@yahoo.com
EDN3 Central Hypoventilation Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Hirschsprung Disease
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Waardenburg IV 
8/30/2002
 Robin Williamson rw001d@yahoo.com
EDNRB Hirschsprung Disease
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Waardenburg IV 
8/30/2002
 Robin Williamson rw001d@yahoo.com
EYA1 Brachiooto Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Brachiootorenal Syndrome 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Iris Anomaly
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Peters' anomaly with cataracts
8/30/2002
 Robin Williamson rw001d@yahoo.com
EYA4 DFNA10
8/30/2002
 Robin Williamson rw001d@yahoo.com
FLJ13782 DFNA28 
8/30/2002
 Robin Williamson rw001d@yahoo.com
GJA1 Recessive Hearing Loss
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Heart Malformations?
8/30/2002
 Robin Williamson rw001d@yahoo.com
GJB2 DFNA3 
8/30/2002
 Connexins and Deafness http://www.crg.es/deafness/
  DFNB1
8/30/2002
 Connexins and Deafness http://www.crg.es/deafness/
  Keratitis-Ichthyosis-Deafness Syndrome 
8/30/2002
 Connexins and Deafness http://www.crg.es/deafness/
  Palmoplantar Hyperkeratosis
8/30/2002
 Connexins and Deafness http://www.crg.es/deafness/
  Palmoplantar Keratoderma
8/30/2002
 Connexins and Deafness http://www.crg.es/deafness/
  Vohwinkel's Syndrome
8/30/2002
 Connexins and Deafness http://www.crg.es/deafness/
 GJB3 DFNA2
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Erythrokeratodermia Variabilis
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Neuropathy and Hearing Impairment
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Recessive Deafness
8/30/2002
 Robin Williamson rw001d@yahoo.com
GJB6 DFNA3 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Hidrotic Ectodermal
Dysplasia (Clouston Syndrome)
8/30/2002
 Robin Williamson rw001d@yahoo.com
HDIA1 (DIAPH1) DFNA1
8/30/2002
 Robin Williamson rw001d@yahoo.com
KCNE1/IsK Jervell and Lange-Nielson Syndrome 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Long QT Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
KCNQ1 Jervell and Lange-Nielson Syndrome 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Long QT Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
KCNQ4 DFNA2
8/30/2002
 Robin Williamson rw001d@yahoo.com
MITF Tietz Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Waardenburg II 
8/30/2002
 Robin Williamson rw001d@yahoo.com
MYH9 Alport Syndrome with macrothrombocytopenia (MYH9)
8/30/2002
 Robin Williamson rw001d@yahoo.com
  DFNA17 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Epstein Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Fechtner Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
  May-Hegglin Anomaly/
Sebastian Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
MYO3A DFNB30
8/30/2002
 Robin Williamson rw001d@yahoo.com
MYO6 DFNA22 
8/30/2002
 Robin Williamson rw001d@yahoo.com
MYO7A DFNA11 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  DFNB2
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Usher Syndrome, Type 1B
8/30/2002
 Robin Williamson rw001d@yahoo.com
MYO15 DFNB3  
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Smith-Magenis
8/30/2002
 Robin Williamson rw001d@yahoo.com
NDP Coats' Disease
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Familial Exudative Vitreoretinopathy
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Norrie Disease
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Retinopathy of Prematurity
8/30/2002
 Robin Williamson rw001d@yahoo.com
OTOF DFNB9 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  NSRAN
8/30/2002
 Robin Williamson rw001d@yahoo.com
 PAX3 Waardenburg I/III
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Craniofacial-Deafness-
Hand Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
PCDH15 Usher Syndrome, Type 1F 
8/30/2002
 Robin Williamson rw001d@yahoo.com
PDS (SLC26A4) DFNB4 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Pendred Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
POU3F4  DFN3 
8/30/2002
 Robin Williamson rw001d@yahoo.com
POU4F3 DFNA15 
8/30/2002
 Robin Williamson rw001d@yahoo.com
SOX10 Peripheral nueropathy with
hypomyelination +deafness
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Waardenburg IV 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Yemenite Deaf-Blind
Hypopigmentation (Mild)
8/30/2002
 Robin Williamson rw001d@yahoo.com
STRC DFNB16 
8/30/2002
 Robin Williamson rw001d@yahoo.com
TCOF1 Treacher Collins
8/30/2002
 Robin Williamson rw001d@yahoo.com
TECTA DFNA8/12
8/30/2002
 Robin Williamson rw001d@yahoo.com
  DFNB21
8/30/2002
 Robin Williamson rw001d@yahoo.com
TMC1 DFNA36 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  DFNB7/11
8/30/2002
 Robin Williamson rw001d@yahoo.com
TMIE DFNB6
8/30/2002
 Robin Williamson rw001d@yahoo.com
TMPRSS3 DFNB8/10 
8/30/2002
 Robin Williamson rw001d@yahoo.com
USH1C Usher Syndrome, Type 1C 
8/30/2002
 Robin Williamson rw001d@yahoo.com
USH2A Usher Syndrome, Type 2A 
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Recessive Retinitis Pigmentosa
without hearing loss
8/30/2002
 Robin Williamson rw001d@yahoo.com
USH3 Usher Syndrome, Type 3
8/30/2002
 Robin Williamson rw001d@yahoo.com
WFS1 Affective Disorder
8/30/2002
 Robin Williamson rw001d@yahoo.com
  DFNA6/14/38
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Diabetes type I association
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Diabetes type II ?
8/30/2002
 Robin Williamson rw001d@yahoo.com
  Wolfram Syndrome
8/30/2002
 Robin Williamson rw001d@yahoo.com
MINSD (12S rRNA)  
8/30/2002
 Robin Williamson rw001d@yahoo.com
MINSD (tRNA ser(UCN))  
8/30/2002
 Robin Williamson rw001d@yahoo.com
MINSD (tRNA trp(UCN))  
8/30/2002
 Robin Williamson rw001d@yahoo.com