Phenotype #0000337435

Individual ID 00448225
Associated disease WDSTS
Inheritance Isolated (sporadic)
Diagnosis/Initial -
Birth_Details -
Diagnosis/Definite -
Age/Examination 18y (18 years)
Height-Weight-OFC -
Phenotype details Short stature, Seizure, EEG abnormality, Intellectual disability, severe, Hypertrichosis, Midface retrusion, Hypertelorism, Poor speech
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 2024-02-23 12:19:29 +01:00 (CET)
Date last edited 2024-02-23 13:28:41 +01:00 (CET)

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