Total 28 clinical symptoms reported for Multiple sulfatase deficiency
Developmental regression |
Loss of developmental skills, as manifested by loss of developmental milestones.
Synonyms:Loss of developmental milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive |
Very frequent |
Global developmental delay |
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Synonyms:Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; Lack of psychomotor development; Motor and developmental delay; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
Very frequent |
Hepatomegaly |
Abnormally increased size of the liver.
Synonyms:Enlarged liver |
Very frequent |
Ichthyosis |
An abnormality of the skin characterized the presence of excessive amounts of dry surface scales on the skin resulting from an abnormality of keratinization.
Synonyms:Ichthyosiform abnormality of the skin; Ichthyotic skin |
Very frequent |
Intellectual disability |
Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.
Synonyms:Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation |
Very frequent |
Neonatal hypotonia |
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Synonyms:Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset |
Very frequent |
Rapid neurologic deterioration |
This information is currently in development.
|
Very frequent |
Splenomegaly |
Abnormal increased size of the spleen.
Synonyms:Increased spleen size |
Very frequent |
Visual impairment |
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.
Synonyms:Impaired vision; Loss of eyesight; Poor vision; Visual impairment |
Very frequent |