Phenotype #0000350115

Individual ID 00464054
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite OCNDS
Phenotype details see paper; ..., birth weight 2.88 (SD-1.9); 11.1y-weight 17.6kg (SD-4.7), height 111cm (SD-5.1), OFC 51.5cm (SD-0.9); 7m-sit; 24m-walk; 36m-first words; no behavioral issues; no neonatal hypotonia; no swallowing difficulties; no seizures; Tetralogy of Fallot; 8m-severe infantile scoliosis
Inheritance Isolated (sporadic)
Age/Examination 11.1y
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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