Phenotype #0000343470

Individual ID 00454863
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite RENU
Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; severe global developmental delay; 4y-walking with aids; no speech; intellectual disability; behavioral issues; sensory issues, stereotypies, hand flapping; hypotonia; seizures; MRI brain abnormal, mild reduction in volume with mild prominence of the extra-axial spaces (3y)
Inheritance Isolated (sporadic)
Age/Examination 4y (4 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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