Elucidating the behavioral phenotype of patients affected with mucolipidosis IV: What can we learn from the parents?

BACKGROUND Mucolipidosis type IV (ML-IV) is a rare autosomal recessive lysosomal storage disorder which presents with nonspecific developmental delay. Nowadays with the use of new tools such as next generation sequencing, more ML-IV affected patients are diagnosed. Still, identifying the behavioral phenotype might be of help for early diagnosis and… CONTINUE READING