Phenotype #0000350773

Individual ID 00465238
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDRSO
Phenotype details see paper; ..., birth spontaneous vaginal delivery, weight 3,400 g (54th centile); abnormal body weight (75th-90th centile); short stature (10th centile); -; developmental/motor regression (onset 24-36m); spasticity; no spastic quadriparesis; dysarthria; gait abnormalities; normal deep tendon reflexes
Inheritance Familial, autosomal recessive
Age/Examination -
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 2025-04-24 13:56:53 +02:00 (CEST)
Date last edited N/A

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