Table 2.

Clinical and Morphological findings of patients suffering from sialidosis II, subtype infantile/Juvenile form (Cases from 1980 until the date of submission are included). M = male; F = female; n/a = not available n/r = not reported; no = not detected; ECG = electrocardiogram; ** Authors reported the case “suspected as sialidosis II” after other congenital errors of metabolism investigated during her childhood, such as mucopolysaccharidosis, were excluded. No formal genomic testing is reported in the study.

References (Name of the First Author)	Gender	General Presentation	Nervous System	Ophthalmologic Findings	Skeleton	Respiratory Distress/Infections	Renal Involvement	Cardiac Involvement	Others	Course of Disease
Winter, R.M. [47]	M <1 year	Coarse feature	Psychomotor delay, Seizures	Visual loss	Dysostosis Multiplex	n/r	n/r	n/r	Hearing loss, Inguinal hernia	22 years
Kelly, T.E. [23]	F <1 year	Coarse feature, Hepatosplenomegaly	Psychomotor delay, seizures/myoclonic jerks	Cherry red spot	Dysostosis Multiplex	present	n/r	present	Umbilical hernia	5 and half years
Kelly, T.E. [23]	F Birth	Coarse feature, Hepatosplenomegaly	Psychomotor delay	Cataract	Dysostosis Multiplex	n/r	n/r	present	Hearing loss, Umbilical hernia, Hypotonia	24 months
King, M. [48]	M 5 months	Coarse feature, Hepatosplenomegaly	Psychomotor delay Ataxia	Cherry red spot, corneal Clouding, Cataract,	Dysostosis Multiplex	n/r/	n/r	n/r	Hearing loss	13 years
King, M. [48]	F N/A	Coarse feature, Hepatosplenomegaly	Psychomotor delay	Cherry red spot, Cataract,	Dysostosis Multiplex	n/r	n/r	n/r	Hearing loss	12 years
Oohira, T. [49]	F <1 year	Coarse feature, Hepatosplenomegaly	Psychomotor delay, Ataxia, myoclonic jerks	Cherry red spots	Dysostosis Multiplex	n/r	n/r	n/r	Hypotonia	5 years
Young, I.D. [50]	M 18 months	Coarse feature	Psychomotor delay, Ataxia, myoclonic jerks	Cherry red spot, Nystagmus, Optic atrophy	Dysostosis Multiplex	nr	n/r	n/r	Hearing Loss, Hypotonia	12 years
Bakker, H.D. [51]	F 6 months	Coarse feature	Psychomotor delay	Strabismus, Nystagmus	n/r	n/r	n/r	n/r	Hearing Loss, Hypotonia	30 years
Rodriguez Criado, G. [42]	M <1 year	Coarse feature, Hepatosplenomegaly	Psychomotor delay, Myoclonic movements Ataxia	n/r	Dysostosis Multiplex	n/r	n/r	present	Hearing Loss, Hypotonia	13 years
Rodriguez Criado, G. [42]	M 16 months	Coarse feature, Hepatosplenomegaly	Psychomotor delay	n/r	Dysostosis Multiplex	n/r	n/r	absent	Hearing Loss, Hypotonia	11 years
Pattison, S. [43]	n/r	Coarse feature, Hepatosplenomegaly	n/r	n/r	Dysostosis Multiplex	n/r	n/r	n/r	n/r	3 years
Pattison, S. [43]	n/r	Coarse feature, Hepatosplenomegaly	n/r	n/r	Dysostosis Multiplex	n/r	n/r	n/r	n/r	3 years
Schiff, M. [52]	F <1 year	Coarse feature, Hepatosplenomegaly	Psychomotor delay	n/r	Dysostosis Multiplex	n/r	present	n/r	n/r	11 years
Gonzalez Gonzalez G [53]	n/r	n/r	Myoclonic epilepsy	n/r	Dysostosis Multiplex	n/r	n/r	present	n/r	14 years
Caciotti, A. [22]	M 1 year	Coarse feature	Psychomotor delay Seizures	Cherry red spot, cataract,	Dysostosis Multiplex	n/r	n/r	n/r	Hearing Loss	9 years
Bonten, E.J. [7]	M birth	Coarse feature, Hepatosplenomegaly	Developmental delay, Orbital hypoplasia	normal	Craniosynostosis	n/r	n/r	n/r	n/r	Progressing at 4 months
Bonten, E.J. [7]	F 12 years	n/r	Psychomotor delay, Seizures Ataxia, Dysmetria Spasticity	Cherry red spots	Dysostosis Multiplex, microcephaly	n/r	n/r	ECG specific alterations of repolarization	Hearing Lossl	Progressing at 28 years.
Ranganath, P. [54]	F 18 months	Coarse facies, hepatomegaly	n/a	Mild corneal haziness, bilateral fundal Cherry red spots	Macrocephaly	n/r	n/r	Cardiac anomalies	Protuberant tongue, gum hypertrophy, generalized hypertrichosis, large Mongolian spots on the back, umbilical hernia	n/r
de Rezende Pintoi ** [55]	F 30 years	a high forehead and low-set ears	Advanced degree of mental deficiency.lower limb spasticity, and facial and limb myoclonic jerks	Bilateral macular cherry-red spots	n/r	n/r	n/r	n/r	A marked delayed in motor and cognitive functions present since childhood. Cognitive and motor skills had worsened over 10 years	n/r