Phenotype #0000350196

Individual ID 00464134
Associated disease RSTS
Diagnosis/Initial Rubinstein-Taybi syndrome
Diagnosis/Definite RSTS1
Phenotype details broad thumbs/halluces, narrow palate, convex nasal ridge; intellectual disability, postnatal growth retardation; hypertrichosis; mild upslanted palpebral fissures, long eyelashes, ptosis, micrognathia, 2-3 toes cutaneous syndactyly, postaxial polydactyly of the left hand, atresia of the nasolacrimal duct, inguinal and umbilical hernia
Inheritance Unknown
Age/Examination 4y (4 years)
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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