Phenotype #0000350192

Individual ID 00464130
Associated disease RSTS
Diagnosis/Initial Rubinstein-Taybi syndrome
Diagnosis/Definite RSTS1
Phenotype details highly arched palate, broad thumbs/halluces, intellectual disability; hypertrichosis; hypotonia, conductive deafness, left ear canal atresia, narrow forehead, gastroesophageal reflux, diaphragmatic hernia, constipation
Inheritance Isolated (sporadic)
Age/Examination 6.6y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2025-02-22 11:39:16 +01:00 (CET)
Date last edited N/A

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