Phenotype #0000337062

Individual ID 00447866
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite NEDBAF
Phenotype details see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; no seizures; feeding difficulties; hydrocephalus requiring ventriculoperitoneal shunting; severe scoliosis; no malignancy
Inheritance Isolated (sporadic)
Age/Examination 14y (14 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 2024-01-29 16:06:49 +01:00 (CET)
Date last edited N/A

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