A rare genetic neurodegenerative disorder with characteristics of severe, persistent hypotonia (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), pr
syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère
SNOMEDCT-BE (presenting at birth or in early infancy), severe global developmental delay (with poor or absent speech, difficulty or inability to roll, sit or walk), pr / 763722004
SNOMEDCT-BE (disorder) / 763722004
