Phenotype #0000343471

Individual ID 00454864
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; 2y-walk; no speech; intellectual disability; behavioral issues; motor stereotypy - recurring hand movements. Sensory seeking behaviour.; hypotonia; no seizures; MRI brain abnormal, 8m-slight prominence of the temporal horns of lateral ventricles. Scan performed in Dubai and neither images or details of report accessible.
Inheritance Isolated (sporadic)
Age/Examination 5y10m (5 years, 10 months)
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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