Phenotype #0000287336

Individual ID 00394130
Associated disease ?
Diagnosis/Initial developmental delay
Diagnosis/Definite PEERB
Phenotype details unremarkable prenatal/perinatal development; MRI brain 2y-normal; 6m-developmental delay; no illness provoked regression; 12m-sit, 18m-crawl, 2-3y-walk; severe expressive language delay; no tetraplegia; no dystonia, no seizures
Inheritance Familial, autosomal recessive
Age/Examination 33y (33 years)
Age/Diagnosis -
Age/Onset 00y06m
Phenotype/Onset developmental delay
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2021-11-30 16:42:10 +01:00 (CET)
Date last edited 2021-11-30 16:57:05 +01:00 (CET)

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