Barth Syndrome
Barth Syndrome - X-linked Cardiomyopathy and Neutropenia Richard I.[web.archive.org]
acquisition of gross motor skills Exercise intolerance Muscle weakness Easily fatigued Chronic or recurrent diarrhea Feeding problems in infancy, "picky eating" in children[verywellhealth.com]
[…] of gross motor skills.[rarediseases.org]
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Muscular Dystrophy-Dystroglycanopathy Type C4
Disease Type of connection Congenital muscular dystrophy without intellectual disability Familial isolated dilated cardiomyopathy Muscle-eye-brain disease Walker-Warburg syndrome[csbg.cnb.csic.es]
1A Dilated cardiomyopathy 1A Dilated cardiomyopathy 1AA Dilated cardiomyopathy 1BB Dilated cardiomyopathy 1C Dilated cardiomyopathy 1D Dilated cardiomyopathy 1E Dilated cardiomyopathy[pentacorelab.hu]
[…] of cardiomyopathy.[invitae.com]
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Limb-Girdle Muscular Dystrophy Type 2Q
LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ].[pubs.sciepub.com]
Cardiomyopathy, familial hypertrophic (CAV3) Dilated cardiomyopathy, 1I (DES) Cardiomyopathy, dilated, 3B, X-linked (DMD) Cardiomyopathy, familial hypertrophic, 1 (MYH7)[meduniwien.ac.at]
, Congenital cataract and cardiomyopathy, Dilated cardiomyopathy (DCM), Myopathy, myofibrillar, Cataract 16, multiple types, Myopathy, myofibrillar, fatal infantile hypertonic[blueprintgenetics.com]
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Congenital Muscular Dystrophy due to LMNA Mutation
[…] laminopathy Autosomal dominant limb-girdle muscular dystrophy type 1B Autosomal recessive Emery-Dreifuss muscular dystrophy Charcot-Marie-Tooth disease type 2B1 Dilated cardiomyopathy[csbg.cnb.csic.es]
Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion, although[invitae.com]
Keywords: Lamin A/c Lmna / Arrhythmia / Automatic Implantable Cardiac Defibrillator / cardiomyopathy / congenital muscular dystrophy Click here to see the statistics on "[scilit.net]
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Muscular Dystrophy-Dystroglycanopathy Type C1
Keywords Dilated cardiomyopathy Dystroglycanopathy Limb Girdle Mutation References 1.[link.springer.com]
LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ].[pubs.sciepub.com]
Cardiomyopathy, familial hypertrophic (CAV3) Dilated cardiomyopathy, 1I (DES) Cardiomyopathy, dilated, 3B, X-linked (DMD) Cardiomyopathy, familial hypertrophic, 1 (MYH7)[meduniwien.ac.at]
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Multicore Myopathy with External Ophthalmoplegia
Multicore myopathy and restrictive cardiomyopathy were diagnosed. Literature concerning the coexistence of multicore myopathy and cardiomyopathy is reviewed.[ncbi.nlm.nih.gov]
A boy with multicore myopathy associated with multiple pterygium syndrome and hypertrophic cardiomyopathy is described.[ncbi.nlm.nih.gov]
A girl affected by a restrictive cardiomyopathy with neuromuscular involvement is described.[ncbi.nlm.nih.gov]
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Hemochromatosis
[…] or odd colored skin (ashen gray green or reddish) • Abdominal pain (upper right quadrant—in area of the liver) • Joint pain • Rapid weight loss • Gall bladder, pancreas or[irondisorders.org]
Lenihan, Infiltrative Cardiomyopathy and Pericardial Disease, Seminars in Oncology, 40, 2, (199), (2013). Hussam Ghoti, Eliezer A.[doi.org]
The most common complications of transfusional hemochromatosis are hepatic cirrhosis, hypopituitarism, hypogonadism, diabetes mellitus, other endocrinopathies, and cardiomyopathy[ncbi.nlm.nih.gov]
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Delayed Acquisition of Motor Skills
Congenital Myopathy with Excess of Thin Filaments
[…] myopathy Congenital fiber-type disproportion myopathy Intermediate nemaline myopathy Typical nemaline myopathy Severe congenital nemaline myopathy Familial isolated dilated cardiomyopathy[csbg.cnb.csic.es]
cardiomyopathy 5 ) and non-muscle myosin (deafness 6 ).[nature.com]
The most dramatic example of this property is actin, mutations in which are associated with hypertrophic cardiomyopathy, dilated cardiomyopathy, nemaline myopathy and actin[link.springer.com]
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Muscular Dystrophy-Dystroglycanopathy Type C2
LGMD1B patients often exhibit findings of both cardiomyopathy and dysrhythmia [ 7 ].[pubs.sciepub.com]
Cardiomyopathy, familial hypertrophic (CAV3) Dilated cardiomyopathy, 1I (DES) Cardiomyopathy, dilated, 3B, X-linked (DMD) Cardiomyopathy, familial hypertrophic, 1 (MYH7)[meduniwien.ac.at]
Cardiac and respiratory function are generally not affected; however, dilated cardiomyopathy has been rarely reported.[mdfgauteng.org]
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Muscular Dystrophy-Dystroglycanopathy Type B6
Among the nonspecified dystroglycanopathies, CI manifests as dilated cardiomyopathy, hypertrophic cardiomyopathy (CMP) or systolic dysfunction.[pediatrics.aappublications.org]
Since delay of motor skill acquisition may be a presenting symptom of CMD, onset of manifestations before age two years may be a reasonable diagnostic criterion.[ncbi.nlm.nih.gov]
[…] type 1G; limb-girdle muscular dystrophy type 2J; early-onset myopathy with fatal cardiomyopathy; familial hypertrophic cardiomyopathy type 9 AD, AR 100 VCP 601023 amyotrophic[centogene.com]
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