From HPO
Myalgia- MedGen UID:
- 68541
- •Concept ID:
- C0231528
- •
- Sign or Symptom
Pain in muscle.
Shoulder girdle muscle weakness- MedGen UID:
- 96533
- •Concept ID:
- C0427063
- •
- Finding
The shoulder, or pectoral, girdle is composed of the clavicles and the scapulae. Shoulder-girdle weakness refers to lack of strength of the muscles attaching to these bones, that is, lack of strength of the muscles around the shoulders.
Shoulder girdle muscle atrophy- MedGen UID:
- 339837
- •Concept ID:
- C1847766
- •
- Finding
Amyotrophy affecting the muscles of the shoulder girdle.
Dysphagia- MedGen UID:
- 41440
- •Concept ID:
- C0011168
- •
- Disease or Syndrome
Difficulty in swallowing.
Feeding difficulties- MedGen UID:
- 65429
- •Concept ID:
- C0232466
- •
- Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Tip-toe gait- MedGen UID:
- 98104
- •Concept ID:
- C0427144
- •
- Finding
An abnormal gait pattern characterized by the failure of the heel to contact the floor at the onset of stance during gait.
Cerebellar atrophy- MedGen UID:
- 196624
- •Concept ID:
- C0740279
- •
- Disease or Syndrome
Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.
Abnormal cerebral white matter morphology- MedGen UID:
- 181756
- •Concept ID:
- C0948163
- •
- Pathologic Function
An abnormality of the cerebral white matter.
Delayed gross motor development- MedGen UID:
- 332508
- •Concept ID:
- C1837658
- •
- Finding
A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.
Cerebellar cyst- MedGen UID:
- 339835
- •Concept ID:
- C1847762
- •
- Finding
Motor delay- MedGen UID:
- 381392
- •Concept ID:
- C1854301
- •
- Finding
A type of Developmental delay characterized by a delay in acquiring motor skills.
Ventriculomegaly- MedGen UID:
- 480553
- •Concept ID:
- C3278923
- •
- Finding
An increase in size of the ventricular system of the brain.
Intellectual disability- MedGen UID:
- 811461
- •Concept ID:
- C3714756
- •
- Mental or Behavioral Dysfunction
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.
Pachygyria- MedGen UID:
- 504794
- •Concept ID:
- CN001193
- •
- Finding
Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.
Kyphosis- MedGen UID:
- 44042
- •Concept ID:
- C0022821
- •
- Anatomical Abnormality
Exaggerated anterior convexity of the thoracic vertebral column.
Hyperlordosis- MedGen UID:
- 9805
- •Concept ID:
- C0024003
- •
- Finding
Abnormally increased curvature (anterior concavity) of the lumbar or cervical spine.
Hypotonia- MedGen UID:
- 10133
- •Concept ID:
- C0026827
- •
- Finding
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.
Muscular dystrophy- MedGen UID:
- 44527
- •Concept ID:
- C0026850
- •
- Disease or Syndrome
The term dystrophy means abnormal growth. However, muscular dystrophy is used to describe primary myopathies with a genetic basis and a progressive course characterized by progressive skeletal muscle weakness and wasting, defects in muscle proteins, and histological features of muscle fiber degeneration (necrosis) and regeneration. If possible, it is preferred to use other HPO terms to describe the precise phenotypic abnormalities.
Scoliosis- MedGen UID:
- 11348
- •Concept ID:
- C0036439
- •
- Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Muscle spasm- MedGen UID:
- 52431
- •Concept ID:
- C0037763
- •
- Sign or Symptom
Sudden and involuntary contractions of one or more muscles.
Muscle weakness- MedGen UID:
- 57735
- •Concept ID:
- C0151786
- •
- Finding
Reduced strength of muscles.
Proximal muscle weakness- MedGen UID:
- 113169
- •Concept ID:
- C0221629
- •
- Finding
A lack of strength of the proximal muscles.
Difficulty climbing stairs- MedGen UID:
- 68676
- •Concept ID:
- C0239067
- •
- Finding
Reduced ability to climb stairs.
Difficulty walking- MedGen UID:
- 86319
- •Concept ID:
- C0311394
- •
- Finding
Reduced ability to walk (ambulate).
Facial palsy- MedGen UID:
- 87660
- •Concept ID:
- C0376175
- •
- Disease or Syndrome
Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.
Achilles tendon contracture- MedGen UID:
- 98052
- •Concept ID:
- C0410264
- •
- Anatomical Abnormality
A contracture of the Achilles tendon.
Weakness of facial musculature- MedGen UID:
- 98103
- •Concept ID:
- C0427055
- •
- Disease or Syndrome
Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).
Muscular atrophy- MedGen UID:
- 892680
- •Concept ID:
- C0541794
- •
- Pathologic Function
The presence of skeletal muscular atrophy (which is also known as amyotrophy).
Generalized muscle weakness- MedGen UID:
- 155433
- •Concept ID:
- C0746674
- •
- Sign or Symptom
Generalized weakness or decreased strength of the muscles, affecting both distal and proximal musculature.
Frequent falls- MedGen UID:
- 163408
- •Concept ID:
- C0850703
- •
- Finding
Elbow contracture- MedGen UID:
- 331445
- •Concept ID:
- C1833142
- •
- Anatomical Abnormality
A limitation in the passive range of motion of the elbow resulting from loss of elasticity in the periarticular tissues owing to structural changes of non-bony tissues, such as muscles, tendons, ligaments, joint capsules or skin.
Calf muscle hypertrophy- MedGen UID:
- 335868
- •Concept ID:
- C1843057
- •
- Finding
Muscle hypertrophy affecting the calf muscles.
Thigh hypertrophy- MedGen UID:
- 339581
- •Concept ID:
- C1846674
- •
- Finding
Muscle hypertrophy affecting the thighs.
Proximal amyotrophy- MedGen UID:
- 342591
- •Concept ID:
- C1850794
- •
- Disease or Syndrome
Amyotrophy (muscular atrophy) affecting the proximal musculature.
Neonatal hypotonia- MedGen UID:
- 412209
- •Concept ID:
- C2267233
- •
- Disease or Syndrome
Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.
Vertebral fusion- MedGen UID:
- 480139
- •Concept ID:
- C3278509
- •
- Anatomical Abnormality
A developmental defect leading to the union of two adjacent vertebrae.
EMG: myopathic abnormalities- MedGen UID:
- 867362
- •Concept ID:
- C4021726
- •
- Pathologic Function
The presence of abnormal electromyographic patterns indicative of myopathy, such as small-short polyphasic motor unit potentials.
Microcephaly- MedGen UID:
- 1644158
- •Concept ID:
- C4551563
- •
- Finding
Head circumference below 2 standard deviations below the mean for age and gender.
Respiratory failure- MedGen UID:
- 257837
- •Concept ID:
- C1145670
- •
- Disease or Syndrome
A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits.
Restrictive ventilatory defect- MedGen UID:
- 478856
- •Concept ID:
- C3277226
- •
- Finding
A functional defect characterized by reduced total lung capacity (TLC) not associated with abnormalities of expiratory airflow or airway resistance. Spirometrically, a restrictive defect is defined as FEV1 (forced expiratory volume in 1 second) and FVC (forced vital capacity) less than 80 per cent. Restrictive lung disease may be caused by alterations in lung parenchyma or because of a disease of the pleura, chest wall, or neuromuscular apparatus.
Elevated circulating creatine kinase concentration- MedGen UID:
- 69128
- •Concept ID:
- C0241005
- •
- Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase (CK; EC 2.7.3.2) in the blood. CK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Macroglossia- MedGen UID:
- 44236
- •Concept ID:
- C0024421
- •
- Disease or Syndrome
Increased length and width of the tongue.
- Abnormality of head or neck
- Abnormality of limbs
- Abnormality of metabolism/homeostasis
- Abnormality of the digestive system
- Abnormality of the musculoskeletal system
- Abnormality of the nervous system
- Abnormality of the respiratory system
- Constitutional symptom