Total 42 clinical symptoms reported for Deficiency of alpha-mannosidase
| 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 |
| Coarse facial features |
Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.
Synonyms:Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies |
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 |
| Craniofacial hyperostosis |
Excessive growth of the craniofacial bones.
Synonyms:Excessive bone growth of the skull and face; Hyperostosis of craniofacial bones; Increased ossification of craniofacial bones |
Very frequent |
| Delayed skeletal maturation |
A decreased rate of skeletal maturation. Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.
Synonyms:Delayed bone age; Delayed bone age before puberty; Delayed bone maturation; Delayed skeletal development; Retarded bone age; Skeletal maturation retardation |
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 |
| 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; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development |
Very frequent |
| Hearing impairment |
A decreased magnitude of the sensory perception of sound.
Synonyms:Deafness; Hearing defect; Hearing impairment; Hypacusis |
Very frequent |
| Hepatomegaly |
Abnormally increased size of the liver.
Synonyms:Enlarged liver |
Very frequent |
| Hypoplastic inferior ilia |
This section is currently in development.
|
Very frequent |
| Intellectual disability |
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by 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 |
| Macroglossia |
Increased length and width of the tongue.
Synonyms:Abnormally large tongue; Hyperplasia of the tongue; Hypertrophy of the tongue; Increased size of tongue; Large tongue; Tongue hypertrophy |
Very frequent |
| Skeletal dysplasia |
A general term describing features characterized by abnormal development of bones and connective tissues.
|
Very frequent |
| Splenomegaly |
Abnormal increased size of the spleen.
Synonyms:Increased spleen size; Large spleen |
Very frequent |
| Type II diabetes mellitus |
A type of diabetes mellitus initially characterized by insulin resistance and hyperinsulinemia and subsequently by glucose interolerance and hyperglycemia.
Synonyms:Diabetes mellitus Type II; Diabetes mellitus, noninsulin-dependent; NIDDM; NIDDM diabetes mellitus; Non-insulin dependent diabetes; Noninsulin dependent diabetes mellitus; Noninsulin-dependent diabetes; Type 2 diabetes; Type II diabetes |
Very frequent |