Phenotype #0000335930

Individual ID 00446728
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite GDACCF
Phenotype details see paper; ..., birth 40w; no respiratory distress; no fetal hydrops/edema; no feeding difficulty, no corpus callosum hypoplasia; MRI brain normal; febrile seizures; delayed fine motor development, 16m-walk; intellectual disability (IQ46); speech delay, poor comprehension, irrelevant verbal responses; ADHD, ASD, disruptive habitus
Inheritance Isolated (sporadic)
Age/Examination 8y (8 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 2024-01-22 13:14:03 +01:00 (CET)
Date last edited N/A

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