Phenotype #0000217196

Individual ID 00285120
Associated disease ?
Diagnosis/Initial peripheral neuropathy
Diagnosis/Definite -
Phenotype details see paper; ..., intermediate Charcot-Marie-Tooth disease, developmental delay, self-abusive behavior, dysmorphic features, vestibular Schwannoma
Inheritance Familial, autosomal recessive
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
Owner name Julia Lopez
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Julia Lopez
Date created 2020-02-05 13:36:16 +01:00 (CET)
Date last edited 2020-08-31 08:38:31 +02:00 (CEST)

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