Phenotype #0000350428

Individual ID 00464405
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRD50
Inheritance Unknown
Phenotype details see paper; ..., (growth parameters); motor delay (HP:0001270), 10m-sit, 2y-walk; intellectual disability (HP:0001249); autism spectrum disorder (HP:0000729); delayed (HP:0000750), 30m-first words; MRI brain normal;
Age/Examination 6y (6 years)
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 2025-03-08 17:44:25 +01:00 (CET)
Date last edited N/A

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