Total 51 clinical symptoms reported for Zellweger spectrum disorders 
Cognitive impairment Abnormal cognition with deficits in thinking, reasoning, or remembering.
 
Synonyms:Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment
Very frequent
Corneal opacity A reduction of corneal clarity.
 
Synonyms:Corneal clouding; Corneal opacities; Reduction of corneal clarity; Scarring or clouding of the cornea of the eye
Very frequent
Depressed nasal bridge Posterior positioning of the nasal root in relation to the overall facial profile for age.
 
Synonyms:Depressed bridge of nose; Depressed nasal bridge; Depressed nasal root; Flat bridge of nose; Flat nasal bridge; Flat nasal root; Flat, nasal bridge; Flattened nasal bridge; Low nasal bridge; Low nasal root; Retruded bridge of nose; Retruded nasal bridge
Very frequent
Epicanthus A fold of skin starting above the medial aspect of the upper eyelid and arching downward to cover, pass in front of and lateral to the medial canthus.
 
Synonyms:Epicanthal fold; Epicanthal folds; Epicanthic folds; Eye folds; Palpebronasal fold; Plica palpebronasalis; Prominent eye folds
Very frequent
Epiphyseal stippling The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses.
 
Synonyms:Epiphyseal punctate calcifications; Speckled calcifications in end part of bone; Stippled epiphyses; Stippling of the epiphyses
Very frequent
External ear malformation A malformation of the auricle of the ear.
 
Synonyms:External ear malformation
Very frequent
Failure to thrive Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
 
Synonyms:Faltering weight; Postnatal failure to thrive; Weight faltering
Very frequent
Feeding difficulties in infancy Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.
 
Very frequent
Flat face Absence of concavity or convexity of the face when viewed in profile.
 
Synonyms:Flat face; Flat facial profile; Flat facial shape; Flat facies
Very frequent
Hepatic failure
 
Synonyms:Liver failure
Very frequent
Hepatomegaly Abnormally increased size of the liver.
 
Synonyms:Enlarged liver
Very frequent
High forehead An abnormally increased height of the forehead.
 
Synonyms:High forehead
Very frequent
Jaundice Yellow pigmentation of the skin due to bilirubin, which in turn is the result of increased bilirubin concentration in the bloodstream.
 
Synonyms:Icterus; Jaundice; Yellow skin; Yellowing of the skin
Very frequent
Profound global developmental delay A profound delay in the achievement of motor or mental milestones in the domains of development of a child.
 
Synonyms:Global developmental delay, profound
Very frequent
Reduced tendon reflexes Diminution of tendon reflexes, which is an invariable sign of peripheral nerve disease.
 
Synonyms:Absent or decreased deep tendon reflexes; Decreased deep tendon reflexes; Decreased tendon reflexes; Decreased to absent deep tendon reflexes; Decreased/absent deep tendon reflexes; Depressed tendon reflexes; Diminished deep tendon reflexes; Diminished or absent deep tendon reflexes; Diminished or absent tendon reflexes; Hypoactive to absent deep tendon reflexes; Impaired tendon reflexes; Reduced/absent deep tendon reflexes; Weak or absent deep tendon reflexes
Very frequent
Respiratory insufficiency
 
Synonyms:Respiratory impairment
Very frequent
Severe muscular hypotonia A severe degree of muscular hypotonia characterized by markedly reduced muscle tone.
 
Synonyms:Hypotonia, severe; Severely decreased muscle tone
Very frequent
Short stature A height below that which is expected according to age and gender norms. Although there is no universally accepted definition of short stature, many refer to 'short stature' as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms).
 
Synonyms:Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile
Very frequent
Skeletal dysplasia A general term describing features characterized by abnormal development of bones and connective tissues.
 
Very frequent
Upslanted palpebral fissure The palpebral fissure inclination is more than two standard deviations above the mean for age (objective); or, the inclination of the palpebral fissure is greater than typical for age.
 
Synonyms:Mongoloid slant; Upslanting palpebral fissures; Upward slanted palpebral fissures; Upward slanting of palpebral fissures; Upward slanting of the opening between the eyelids; Upward slanting palpebral fissures
Very frequent
Wide anterior fontanel Enlargement of the anterior fontanelle with respect to age-dependent norms.
 
Synonyms:Large anterior fontanel; Large anterior fontanelle; Large open anterior fontanel; Large open anterior fontanelle; Wide anterior fontanelle; Wide open anterior fontanelle; Wider-than-typical soft spot of skull
Very frequent
Wide nasal bridge Increased breadth of the nasal bridge (and with it, the nasal root).
 
Synonyms:Broad nasal bridge; Broad nasal root; Broadened nasal bridge; Increased breadth of bridge of nose; Increased breadth of nasal bridge; Increased width of bridge of nose; Increased width of nasal bridge; Nasal bridge broad; Nasal bridge, wide; Wide bridge of nose; Wide nasal bridge; Widened nasal bridge
Very frequent