Phenotype #0000355620

Individual ID 00470724
Associated disease ID
Diagnosis/Initial intellectual disability
Diagnosis/Definite -
Inheritance Familial, autosomal recessive
Phenotype details see paper; ..., global psychomotor developmental delay; hypotonia; 23m-sit; not walking; soeech syllables; intellectual disability; no autism spectrum disorder; 4m-epilepsy; EEG mildly slow; MRI wide pericerebral spaces; plagiocephaly, wide open eyes, low frontal hairline; supernumerary nipple; hyperlaxity; normal kidney
Age/Examination 23m
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2025-12-08 15:51:34 +01:00 (CET)
Date last edited N/A

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