Phenotype #0000027854

Individual ID 00034457
Associated disease CDG-1C
Phenotype details Axial hypotonia, limited exercise tolerance, psychomotor developmental delay, inverted nipples , disturbed coagulation pathway
Diagnosis/Initial -
Inheritance Unknown
Diagnosis/Definite -
Age/Examination 05y (5 years)
Age/Diagnosis -
Age/Onset 05y
Phenotype/Onset -
Protein -
Owner name Anke Rietveld