Total 50 clinical symptoms reported for Infantile GM1 gangliosidosis
Abnormal facial shape |
An abnormal morphology (form) of the face or its components.
Synonyms:Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies |
Very frequent |
Abnormality of the nervous system |
An abnormality of the nervous system.
Synonyms:Abnormality of the nervous system; Neurologic abnormalities; Neurological abnormality |
Very frequent |
Abnormality of the skeletal system |
An abnormality of the skeletal system.
Synonyms:Abnormality of the skeletal system; Skeletal abnormalities; Skeletal anomalies |
Very frequent |
Blindness |
Blindness is the condition of lacking visual perception defined as visual perception below 3/60 and/or a visual field of no greater than 10 degrees in radius around central fixation.
Synonyms:Blindness; Total vision loss |
Very frequent |
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 |
Hearing impairment |
A decreased magnitude of the sensory perception of sound.
Synonyms:Deafness; Hearing defect; Hearing impairment; Hypacusis |
Very frequent |
Hepatosplenomegaly |
Simultaneous enlargement of the liver and spleen.
Synonyms:Enlarged liver and spleen |
Very frequent |
Infantile muscular hypotonia |
Muscular hypotonia (abnormally low muscle tone) manifesting in infancy.
Synonyms:Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia |
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 |
Psychomotor retardation |
Synonyms:Motormental retardation; Psychomotor impairment; Psychomotor slowing |
Very frequent |