Phenotype #0000343465

Individual ID 00454858
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite RENU
Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; no microcephaly (OFC borderline); global developmental delay; 3y6m-walk; no speech; intellectual disability; hypotonia; seizures; MRI brain abnormal, thinning of corpus callosum, partial empty sella, posterior pit bright spot not visualized
Inheritance Isolated (sporadic)
Age/Examination 12y (12 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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