Phenotype #0000350194

Individual ID 00464132
Associated disease RSTS
Diagnosis/Initial Rubinstein-Taybi syndrome
Diagnosis/Definite RSTS1
Phenotype details microcephaly, downslanted palpebral fissures, highly arched eyebrow, columella below alae nasi, broad thumbs/halluces, intellectual disability, postnatal growth retardation; hypertrichosis; obesity, scoliosis, strabismus, epicanthal folds, hypermetropia, low anterior hairline
Inheritance Unknown
Age/Examination 14y (14 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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