Phenotype #0000359554

Individual ID 00474761
Associated disease ?
Diagnosis/Initial neurodevelopmental disorder
Diagnosis/Definite MPAPA
Phenotype details see paper; ..., severe intellectual disability, motor delay, postnatal growth retardation, megalencephaly; MRI brain ventriculomegaly, no hydrocephalus, no bilateral perisylvian polymicrogyria, hypoplastic corpus callosum; ventricular septal defect; postaxial polydactyly, no toe syndactyly, no brachymesophalangy; tracheomalacia; no gastrointestinal atresia; 7y-neuroblastome (19y-remission)
Inheritance Isolated (sporadic)
Age/Examination 15y (15 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2026-03-25 09:27:25 +01:00 (CET)
Date last edited 2026-03-25 09:37:51 +01:00 (CET)

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