Phenotype #0000321808

Individual ID 00431199
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details severe developmental delay; 4m-seizures, absences, drops, tonic extensions; refractory seizures; spastic quadriplegia; thin upper lips, anteverted nostrils, high frontal hairline, wide nasal bridge; OFC 0.4-2nd percentile; dysgyria bilateral diffuse ( anterior>posterior); reduced white matter, enlarged lateral ventricles, hypoplastic corpus callosum, dysmorphic basal ganglia
Inheritance Isolated (sporadic)
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 2023-02-01 21:19:33 +01:00 (CET)
Date last edited N/A

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