Phenotype #0000350121

Individual ID 00464060
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite OCNDS
Phenotype details see paper; ..., birth weight 3.02 (SD-0.8); 7.7y-weight 21.8kg (SD-0.2), height 113.4cm (SD-1.3), OFC 49.2cm (SD-1.9); 6m-sit; 40m-walk; 96m-first words; no behavioral issues; no neonatal hypotonia; no swallowing difficulties; no seizures; no cardiac anomalies; MRI brain normal; eczema
Inheritance Isolated (sporadic)
Age/Examination 10.9y
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2025-02-14 19:45:17 +01:00 (CET)
Date last edited N/A

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