Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000219663 Individual ID 00283399 Associated disease TCS Diagnosis/Initial Treacher collins syndrome Diagnosis/Definite TCS3 Phenotype details downward slanting palpebral fissures; lower eyelid coloboma; hypoplasia zygomatic complex; hypoplasia mandible; microtia; no choanal stenosis/atresia; conductive deafness; cleft palate; tracheostoma; no delayed motor development; no speech delay Inheritance Familial, autosomal recessive Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Julia Lopez Database submission license Creative Commons Attribution 4.0 International Created by Julia Lopez Date created 2020-02-05 13:36:16 +01:00 (CET) Date last edited 2022-12-13 10:58:13 +01:00 (CET)

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