Phenotype #0000350767

Individual ID 00465232
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDRSO
Phenotype details see paper; ..., birth spontaneous vaginal delivery, weight 3,773 g (80th centile), length 53.3 cm (96th centile); normal weight; short stature (<1st centile); 3y-microcephaly (OFC -2.36 SD, 1st centile); developmental/motor regression (onset 36m); spasticity (progressive, ascending); spastic quadriparesis; dystonia; drooling, dysarthria; gait abnormalities; increased deep tendon reflexes; MRI brain normal
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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