Phenotype #0000351462

Individual ID 00466078
Associated disease RSTS1
Phenotype details Global developmental delay, Atypical behavior, Abnormality of the face, Clinodactyly, Sensorineural hearing impairment, Intellectual disability, Bicuspid aortic valve, Cryptorchidism
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 12y (12 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Andreas Laner
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Andreas Laner
Date created 2025-07-31 14:56:52 +02:00 (CEST)
Date last edited 2025-08-01 12:52:48 +02:00 (CEST)

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