Phenotype #0000350409

Individual ID 00464386
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite MRD50
Inheritance Isolated (sporadic)
Phenotype details see paper; ..., (growth parameters); failure to thrive (HP:0001508); motor delay (HP:0001270), 18m-crawl, 2y-walked, 4y-jump, fine motor difficulties noted; profound global developmental delay (HP:0001263); autism spectrum disorder (HP:0000729); speech delay (HP:0000750), 4y-no words; no seizures; MRI brain normal; normal muscle tone; no facial dysmorphism; no cardiavacular anomalies; no skeletal anomalies; normal connective tissue; eczema, mild zinc deficiency and multiple allergies (dairy, eggs, peas, bananas and lentils)
Age/Examination 4y (4 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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