Phenotype #0000343495

Individual ID 00454888
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite RENU
Phenotype details see paper; ..., no intra-uterine growth retardation; no short stature; microcephaly, congenital; severe global developmental delay; 18m-walk unsteady, 2y6m-walk confident; no speech (babbles only); intellectual disability; behavioral issues; Social anxiety - does not like shops, supermarkets or other busy places; no hypotonia; seizures; MRI brain abnormal, report from MRI done in India at 3yo suggests enlarged subarachnoid spaces and generalised white matter loss.
Inheritance Isolated (sporadic)
Age/Examination 11y (11 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 2024-09-30 10:26:47 +02:00 (CEST)
Date last edited N/A

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