Total 41 clinical symptoms reported for Niemann-Pick disease, type B
Abnormal bleeding |
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Synonyms:Bleeding diathesis; Bleeding tendency; Hemorrhagic diathesis |
Uncommon |
Abnormal cerebellum morphology |
Any structural abnormality of the cerebellum.
Synonyms:Abnormality of the cerebellum; Cerebellar abnormalities; Cerebellar abnormality; Cerebellar anomaly; Cerebellar signs |
Uncommon |
Abnormal heart valve morphology |
Any structural abnormality of a cardiac valve.
Synonyms:Abnormality of the heart valves; Valvular abnormality |
Uncommon |
Acute promyelocytic leukemia |
A type of acute myeloid leukemia in which abnormal promyelocytes predominate.
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Uncommon |
Apraxia |
A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.
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Uncommon |
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 |
Uncommon |
Attention deficit hyperactivity disorder |
Attention deficit hyperactivity disorder (ADHD) manifests at age 2-3 years or by first grade at the latest. The main symptoms are distractibility, impulsivity, hyperactivity, and often trouble organizing tasks and projects, difficulty going to sleep, and social problems from being aggressive, loud, or impatient.
Synonyms:ADHD; Attention deficit; Attention deficit disorder; Attention deficit-hyperactivity disorder; Attention deficits; Childhood attention deficit/hyperactivity disorder |
Uncommon |
Autoimmune thrombocytopenia |
The presence of thrombocytopenia in combination with detection of antiplatelet antibodies.
Synonyms:Idiopathic thrombocytopenia; Immune thrombocytopenia |
Uncommon |
Behavioral abnormality |
An abnormality of mental functioning including various affective, behavioural, cognitive and perceptual abnormalities.
Synonyms:Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral/psychiatric abnormalities; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances |
Uncommon |
Bipolar affective disorder |
Synonyms:Bipolar disorder |
Uncommon |
Cholelithiasis |
Hard, pebble-like deposits that form within the gallbladder.
Synonyms:Gallstones |
Uncommon |
Cirrhosis |
A chronic disorder of the liver in which liver tissue becomes scarred and is partially replaced by regenerative nodules and fibrotic tissue resulting in loss of liver function.
Synonyms:Hepatic cirrhosis; Scar tissue replaces healthy tissue in the liver |
Uncommon |
Coronary artery atherosclerosis |
Reduction of the diameter of the coronary arteries as the result of an accumulation of atheromatous plaques within the walls of the coronary arteries, which increases the risk of myocardial ischemia.
Synonyms:Coronary atherosclerosis; Coronary disease; Plaque build-up in arteries supplying blood to heart |
Uncommon |
Depression |
Frequent feelings of being down, miserable, and/or hopeless; difficulty recovering from such moods; pessimism about the future; pervasive shame; feeling of inferior self-worth; thoughts of suicide and suicidal behavior.
Synonyms:Depression; Depressivity |
Uncommon |
Generalized non-motor (absence) seizure |
A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterised by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.
Synonyms:Absence seizure; Absence seizures; Brief seizures with staring spells; Petit mal; Petit mal seizure; Petit mal seizures |
Uncommon |
Hepatic failure |
Synonyms:Liver failure |
Uncommon |
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 |
Uncommon |
Neoplasm of the liver |
A tumor (abnormal growth of tissue) of the liver.
Synonyms:Liver cancer; Liver tumor |
Uncommon |
Nystagmus |
Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.
Synonyms:Involuntary, rapid, rhythmic eye movements |
Uncommon |
Pathologic fracture |
A pathologic fracture occurs when a bone breaks in an area that is weakened secondarily to another disease process such as tumor, infection, and certain inherited bone disorders. A pathologic fracture can occur without a degree of trauma required to cause fracture in healthy bone.
Synonyms:Spontaneous fracture |
Uncommon |
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.
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Uncommon |
Systemic lupus erythematosus |
A chronic, relapsing, inflammatory, and often febrile multisystemic disorder of connective tissue, characterized principally by involvement of the skin, joints, kidneys, and serosal membranes.
Synonyms:SLE |
Uncommon |