Phenotype #0000348324

Individual ID 00460602
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite SIHIWES
Phenotype details see paper; ..., motor delay, 12m-crawl, 18m-first step, 20m-walk; speech delay, currently speaking in 2-3 word phrases/few sentences; hypotonia; no hearing loss; no hand anomalies; MRI brain mild ventriculomegaly; ECG normal; no eye anomalies; GERD toddler diahrrea
Inheritance Isolated (sporadic)
Age/Examination 4y (4 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 2025-01-28 15:50:33 +01:00 (CET)
Date last edited N/A

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