Phenotype #0000350768

Individual ID 00465233
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDRSO
Phenotype details see paper; ..., birth spontaneous vaginal delivery, weight 2,138 g (1st centile), length 45.5 cm (1st centile); abnormal body weight (<1st centile); short stature (<1st centile); 8.7y-microcephaly (OFC -3.4 SD, <1st centile); spasticity; no spastic quadriparesis; 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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