Phenotype #0000277166

Individual ID	00383381
Associated disease	?
Diagnosis/Initial	global developmental delay, abnormal muscle tone, poor weight gain, microcephaly
Diagnosis/Definite	-
Phenotype details	birth 40w, no intra-uterine growth retardation or small for age at birth, weight 25th, height 70th, OFC -4; no fractures; developmental delay; possible spasticity in ankles bilaterally (mild, with normal gait); no seizures; MRI brain normal
Inheritance	Isolated (sporadic)
Age/Examination	3y (3 years)
Age/Diagnosis	-
Age/Onset	-
Phenotype/Onset	-
Protein	-
Tumor/MSI	-
Diagnosis/Criteria	-
Owner name	Johan den Dunnen
Database submission license
Created by	Johan den Dunnen
Date created	2021-09-29 09:23:06 +02:00 (CEST)
Date last edited	N/A

Global Variome shared LOVD