Total 42 clinical symptoms reported for Marinesco-Sjögren syndrome 
Abnormal cerebellar vermis morphology An anomaly of the vermis of cerebellum.
 
Synonyms:Abnormality of the cerebellar vermis
Very frequent
Aplasia/Hypoplasia involving the skeletal musculature Absence or underdevelopment of the musculature.
 
Synonyms:Absent/small skeletal muscles; Absent/underdeveloped skeletal muscles
Very frequent
Ataxia Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).
 
Synonyms:Cerebellar ataxia
Very frequent
Cataract A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
 
Synonyms:Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity
Very frequent
Cerebellar hypoplasia Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.
 
Synonyms:Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum
Very frequent
Dysarthria Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.
 
Synonyms:Difficulty articulating speech; Dysarthric speech
Very frequent
Dysphonia An impairment in the ability to produce voice sounds.
 
Synonyms:Inability to produce voice sounds; Voice change
Very frequent
External genital hypoplasia Underdevelopment of part or all of the external reproductive organs.
 
Synonyms:Hypogenitalism; Small genitalia; Underdevelopment of external reproductive organs
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
Hypogonadism A decreased functionality of the gonad.
 
Synonyms:Decreased activity of gonads
Very frequent
Hypotonia Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
 
Synonyms:Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular 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
Myopathy A disorder of muscle unrelated to impairment of innervation or neuromuscular junction.
 
Synonyms:Muscle tissue disease; Myopathic changes
Very frequent
Neurological speech impairment
 
Synonyms:Speech disorder; Speech impairment; Speech impediment
Very frequent
Severe short stature A severe degree of short stature, more than -4 SD from the mean corrected for age and sex.
 
Synonyms:Dwarfism; Proportionate dwarfism; Severe short stature; Short stature, extreme; Short stature, severe
Very frequent
Specific learning disability Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.
 
Very frequent
Strabismus A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
 
Synonyms:Cross-eyed; Squint; Squint eyes
Very frequent