Mucolipidosis type III alpha/beta

Orpha code: 423461OMIM code: 252600

Definition

Mucolipidosis III alpha/beta (MLIII alpha/beta) is a lysosomal disorder characterized by progressive slowing of the growth rate from early childhood, stiffness and pain in joints, gradual coarsening of facial features, moderate developmental delay and mild intellectual disability in most patients.

Disease data
Classification

Clinical subtype

Synonyms
ML 3 alpha/beta
ML 3 alfa/beta
ML III alfa/beta
Mukolipidoza typu 3 alfa/beta
ML III alpha/beta
Mucolipidosis type 3 alpha/beta
ORPHA code
423461
OMIM code
252600
ICD10 code
E77.0
ICD11 code
-

No additional description.

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