Phenotype #0000210145

Individual ID 00275524
Associated disease TSC2
Diagnosis/Initial developmental delay
TSC/Features -
Diagnosis/Definite -
Inheritance Unknown
Phenotype details 19m-developmental delay, facial dysmorphism, craniostenosis (corrected by plastic surgery), normal cardiac echocardiogram
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Seizures -
Intellectual_dis -
Protein -
Cognitive/Impairment -
Hypertension -
Development -
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 2020-01-05 12:39:42 +01:00 (CET)
Date last edited N/A

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