Phenotype #0000325814

Individual ID 00435630
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite -
Phenotype details see paper; ..., motor delay, 2y6m-walk; speech delay; intellectual disability; seizures; pale optic nerves, strabismus, myopia; no hypotonia; MRI brain abnormal white matter signal (delayed myelination), focal dysgyria, agenesis of anterior falx cerebri; mildly tapered fingers; prominent maxilla/upper lip; micrognathia; long ears
Inheritance Isolated (sporadic)
Age/Examination 6y (6 years)
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 2023-08-06 22:51:48 +02:00 (CEST)
Date last edited N/A

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