Phenotype #0000321807

Individual ID 00431198
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details severe developmental delay; birth/prenatal-seizures; no refractory seizures; hypertonia; long palpebral fissures, shallow orbits, overlapping fingers; OFC 41.5 cm (-5.2 SD); dysgyria bilateral diffuse ( anterior>posterior); reduced white matter, enlarged lateral ventricles, hypoplastic corpus callosum, abnormal myelination in brainstem, dysmorphic hippocampus
Inheritance Isolated (sporadic)
Age/Examination 19m
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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