Phenotype #0000021589

Individual ID	00025478
Associated disease	MDC
Phenotype details	motor and cognitive delay at birth,His developmental milestones were characterized by gross delay. He could control his head movements when he was 8 months old, and sit unsupported at 14 months. When he was 2 years old, he could walk a few steps with help and could say “mother” and “father”. His head circumference was 46.2 cm when he was 2 years old, he had calf muscle hypertrophy and no significant joint contracture, but had mild muscle weakness, and tendon reflexes were absent. Brain MRI revealed type II agyria deformities
Diagnosis/Initial	-
Diagnosis/Definite	-
Inheritance	Familial, autosomal recessive
Age/Examination	04y (4 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	Yanghaipo
Database submission license	No license selected
Created by	Yanghaipo
Date created	2014-12-10 14:13:36 +01:00 (CET)
Date last edited	2014-12-12 13:22:58 +01:00 (CET)

Global Variome shared LOVD