Phenotype #0000307721

Individual ID 00415950
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., severe neurodevelopmental delay, delayed social/cognitive abilities; delayed sit, delayed walk; no speech; no epilepsy; MRI slightly thickened cortex, decreased white matter volume, ventriculomegaly, bilateral enlarged frontal gyri; microcephaly, micrognathia, low set ears; patent ductus arteriosus, resolved at 6m; recurrent pneumonia; no immunological anomalies
Inheritance Familial, autosomal recessive
Age/Examination 03y (3 years)
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 2022-08-19 10:37:55 +02:00 (CEST)
Date last edited 2025-12-02 13:47:03 +01:00 (CET)

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