Phenotype #0000357373

Individual ID 00472576
Associated disease TBS
Phenotype details 18wg-oligohydramnios; 35wg-abnormal kidneys; bilateral dysplastic deep set ears, bilateral preauricular tags, leftsided preauricular pit; narrow left auditory canal; bifid right thumb, adducted left thumb; left sided retinal coloboma; bilateral dimples shoulders/elbows/knees; anteriorly placed anus; hypoplastic kidneys; severe feeding difficulty, G-tube placement, never able to eat orally; gastroesophageal reflux; hiatus hernia; hearing loss, delayed speech; renal failure, renal transplant,, pseudotumor cerebri ;
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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