Gene: [01p/WS2B] Waardenburg syndrome, type 2B;


COM

Lalwani-1994 mapped a WS2B gene to 1p21-p13.3.

PAT

The main symptoms are: sensorineural hearing loss, heterochromia irides, white forelock and early graying."

FOG

Autosomal dominant.

REF

PAT,FOG,HET "Farrer LA &: AJHG, 55, 728-737, 1994
PAT,LOC,LIN "Lalwani AK &: AJHG, 55, A14-14, 1994

KEY

neu, eye

CLA

unknown, basic

LOC

01 p21-13.3

MIM

MIM: 600193

Смотрите также:

  • Gene: [02q36/PAX3] paired box homeotic gene 3; Waardenburg syndrome, type 1; Waardenburg syndrome, type 3 (with upper limb anomalies; Klein-Waardenburg syndrome; MIM:148820); rhabdomyosarcoma, type 2 (alveolar; MIM:268220); craniofacial-dea
  • Gene: [03p1/MITF] microphthalmia-associated transcription factor; Waardenburg syndrome, type 2A (WS2A; MIM:193510); [WS2A ]