Phenotype #0000154107

Individual ID 00205966
Associated disease LGSS
Phenotype details >6 CALMs larger than 15mm diameter / axillary freckling / normal cognitive development / no scoliosis. Mother and older brother have multiple CALMs but no molecular testing available
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis 14y
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Ludwine Messiaen
Database submission license No license selected
Created by Ludwine Messiaen