Table 2. Major signs and symptoms of LDs.

Major LD category	Examples	Major signs and symptoms *
Mucopolysaccharidoses	MPS I (IH, IS, and IH/S); MPS II;, MPS III (A, B, C, and D); MPS IV (A and B); MPS VI; MPS VII, MPS IX	Coarse facial features, hepatosplenomegaly, corneal clouding, skeletal abnormalities, joint limitation, and short stature; progressive mental retardation occurs in some types
Mucolipidoses	Type I; Type II; Type III; Type IV	Coarse facial features, hepatosplenomegaly, dysostosis multiplex, finger contractures, scoliosis, short stature; progressive mental retardation occurs in some types
Sphingolipidoses	GM2-gangliosidoses; Niemann-Pick (types A, B, and C); Gaucher disease (types I, II, and III); Fabry disease; Metachromatic leukodystrophy; Krabbe disease; Farber lipogranulomatosis	Neurodegeneration, “cherry red” spot in the retina, hepatosplenomegaly, pulmonary involvement, gaze palsy, ataxia, bone changes, paresthesias, angiokeratomas, renal failure
Oligosaccharidoses	α-mannosidosis; β-mannosidosis; fucosidosis; aspartylglucosaminuria; Schindler disease; ISSD; Salla disease; Galactosialidosis; GM1-gangliosidosis	Coarse facial features, dysostosis multiplex; “cherry red” spot in the retina, hepatosplenomegaly, mental retardation, ataxia, hearing loss, angiokeratoma
Neuronal ceroid lipofuscinoses	Types 1 to 14	Neurodegeneration, vision issues, seizures, ataxia

IH: Hurler; IS: Sheie; IH/S: Hurler-Scheie; ISSD: Infantile sialic acid storage disease.

^*May not be present in all diseases in the same category.