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Encephalopathy, axonal, with necrotizing myopathy, cardiomyopathy, and cataracts

MedGen UID:
341669
Concept ID:
C1856990
Disease or Syndrome
Synonym: LYON SYNDROME
 
Monarch Initiative: MONDO:0009164
OMIM®: 225740

Clinical features

From HPO
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.
Cataract
MedGen UID:
39462
Concept ID:
C0086543
Disease or Syndrome
A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.
Corpus callosum atrophy
MedGen UID:
96560
Concept ID:
C0431370
Finding
The presence of atrophy (wasting) of the corpus callosum.
Cardiomyopathy
MedGen UID:
209232
Concept ID:
C0878544
Disease or Syndrome
A myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality.
Generalized hypotonia
MedGen UID:
346841
Concept ID:
C1858120
Finding
Generalized muscular hypotonia (abnormally low muscle tone).
Necrotizing myopathy
MedGen UID:
870175
Concept ID:
C4024608
Disease or Syndrome
Congenital encephalopathy
MedGen UID:
870471
Concept ID:
C4024917
Congenital Abnormality

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