Phenotype #0000357380

Individual ID 00472583
Associated disease TBS
Phenotype details birth weight 3560 g, length 50 cm, OFC 35 cm; duplicated right thumb, broad left thumb normal terminal phalanx; right preauricular appendix right side; everted, simple ears; anteriorly placed anus; deep presacral dimple; complete cutaneous syndactyly toes III-IV right foot; 2y-normal hearing; mild psychomotor developmental delay;
Diagnosis/Initial Townes-Brocks syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite TBS1
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2026-02-23 19:54:27 +01:00 (CET)
Date last edited N/A

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