Phenotype #0000356246

Individual ID 00471407
Associated disease NDD
Diagnosis/Initial neurodevelopmental delay
Diagnosis/Definite IDLDP
Phenotype details see paper; ..., 6m-seizures; global developmental delay; speech/language impairment; motor delay; sensory sensitivity; MRI brain pontine hypoplasia, ventriculomegaly; severe hypotonia, feeding difficulties; facial dysmorphism, sleep disordered breathing
Inheritance Isolated (sporadic)
Age/Examination 2y (2 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 2025-12-21 13:37:07 +01:00 (CET)
Date last edited N/A

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