Phenotype #0000348108

Individual ID 00460384
Associated disease NF
Phenotype details see paper; ..., fulfills NIH criteria (also when excluding family history); less then 6 cafĂ©-au-lait macules; freckling (bilateral axillary); no Lisch nodules; no plexiform neurofibroma; no cutaneous neurofibroma; no subcutaenous neurofibroma; spinal neurofibroma (symptomatic); no skeletal abnormalities; normal development; mitral valve prolapse, asymptomatic internal neurofibromasension
Diagnosis/Initial neurofibromatosis
Inheritance Isolated (sporadic)
Diagnosis/Definite NF1
Age/Examination >18y (later than 18 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Owner name Ludwine Messiaen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-01-25 16:41:57 +01:00 (CET)
Date last edited N/A

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