Phenotype #0000343463

Individual ID 00454856
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite RENU
Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; microcephaly, congenital; severe global developmental delay; non-ambulatory (walks with gait trainer and can take a few steps independently); no speech; intellectual disability; behavioral issues; Repetitive behaviors and hand stereotypies. No aggressive or self-injurious behaviors.; hypotonia; seizures; MRI brain abnormal, reduced white matter volume (predominantly affecting posterior white matter) and thin corpus callosum
Inheritance Isolated (sporadic)
Age/Examination 6y (6 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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