Total 21 clinical symptoms reported for GNPTG-mucolipidosis
| Arthralgia |
Joint pain.
Synonyms:Arthralgias; Joint pain |
Very frequent |
| Claw hand deformity |
An abnormality of the hand characterized by metacarpophalangeal (MCP) hyperextension and proximal interphalangeal (PIP) and distal interphalangeal (DIP) flexion. The position of the affected hand is said to resemble a claw.
|
Very frequent |
| Finger joint contracture |
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of a finger joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
|
Very frequent |
| Flat capital femoral epiphysis |
An abnormal flattening of the proximal epiphysis of the femur.
Synonyms:Flat capital femoral epiphyses; Flat end part of innermost thighbone; Flat femoral capital epiphyses; Flat proximal femoral epiphyses; Flattened proximal femoral epiphyses |
Very frequent |
| Genu valgum |
The legs angle inward, such that the knees are close together and the ankles far apart.
Synonyms:Genu valga; Genu valgus; Genua valga; Knee joint valgus deformity; Knock knees |
Very frequent |
| Hyperlordosis |
Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
Synonyms:Lordosis; Prominent swayback |
Very frequent |
| Joint stiffness |
Joint stiffness is a perceived sensation of tightness in a joint or joints when attempting to move them after a period of inactivity. Joint stiffness typically subsides over time.
Synonyms:Joint stiffness; Stiff joint; Stiff joints |
Very frequent |
| Myopia |
An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.
Synonyms:Close sighted; Near sighted; Near sightedness; Nearsightedness |
Very frequent |
| Pes planus |
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Synonyms:Flat feet; Flat foot |
Very frequent |
| Short neck |
Diminished length of the neck.
Synonyms:Cervical shortening; Decreased cervical height; Decreased cervical length; Decreased length of neck; Short neck |
Very frequent |
| Shoulder contracture |
Lack of full passive range of motion (restrictions in flexion, extension, or other movements) of the shoulder joint resulting from structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules and/or skin.
|
Very frequent |