Phenotype #0000351313

Individual ID 00465864
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRT48
Inheritance Familial, autosomal recessive
Phenotype details dsee paper; ..., moderate-severe intellectual disability; neonatal period cried excessively; psychomotor development delayed; progressive tremor; small hand length
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2025-06-10 16:22:21 +02:00 (CEST)
Date last edited 2025-06-10 16:25:49 +02:00 (CEST)

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