Phenotype #0000352981

Individual ID 00467827
Associated disease NDD
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite NEDHYBA
Phenotype details see paper; ..., 29wg-placental abruption; 40wg-birth, required breathing assistance; 3d-MRI brain diffuse polymicrogyria, total agenesis corpus callosum, large frontal horns, hypoplastic pons, hypoplastic cerebellum, markedly decreased white matter volume, delayed myelination; 9m-optic nerve hypoplasia, coloboma; mild ptosis left eye, horizontal nystagmus, rotary nystagmus; laryngomalacia, mild choanal ; severe developmental delay, intellectual disability, severe hypotonia, poor sucking, poor swallowing reflexes; 17y-coo, smile, no speech/babble, never stand/walked
Inheritance Isolated (sporadic)
Age/Examination 1y7
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 2025-10-31 19:23:15 +01:00 (CET)
Date last edited N/A

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