Phenotype #0000324397

Individual ID	00434018
Associated disease	BMD/DMD
Diagnosis/Initial	muscle weakness
Diagnosis/Definite	DMD
Phenotype details	see paper; ..., 31w-birth caesarean section maternal eclampsia, hypospadias with repair, sickle cell trait, prematurity, pregnancy complicated by maternal sickle cell disease; neonatal jaundice; 2<y6m-normal motor milestones; 2.5y-walk tiptoes with in-toeing of the feet, fatigue, tachypnea with exertion; 7y-falls, difficulty walking endurance due to muscle weakness; bilaterally shortened heel cords, walker prescribed; tachypnea, occasional tachycardia related to exertion persisted; never reached age-appropriate gross motor skill milestones (climbing stairs, hopping, maintaining balance), attentive, and interactive personality, no cranial nerve abnormalities; 7y-positive Gower sign, bilateral calf hypertrophy, shortened feet and lumbar lordosis
Inheritance	Isolated (sporadic)
Age/Examination	09y (9 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2023-03-17 09:20:47 +01:00 (CET)
Date last edited	N/A

Global Variome shared LOVD