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Term:
autosomal recessive limb-girdle muscular dystrophy type 2X
(DOID:0110290)
Annotations:
Rat: (1)
Mouse: (1)
Human: (1)
Chinchilla: (1)
Bonobo: (1)
Dog: (1)
Squirrel: (1)
Pig: (1)
Naked Mole-rat: (1)
Green Monkey: (1)
Parent Terms
Term With Siblings
Child Terms
autosomal recessive limb-girdle muscular dystrophy
+
Cardiac Arrhythmias
+
ankyrin-B-related cardiac arrhythmia
atrial fibrillation
+
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 23
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 26
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 27
Autosomal Recessive Limb-Girdle Muscular Dystrophy Type 29
autosomal recessive limb-girdle muscular dystrophy type 2A
autosomal recessive limb-girdle muscular dystrophy type 2B
autosomal recessive limb-girdle muscular dystrophy type 2C
autosomal recessive limb-girdle muscular dystrophy type 2D
autosomal recessive limb-girdle muscular dystrophy type 2E
autosomal recessive limb-girdle muscular dystrophy type 2F
autosomal recessive limb-girdle muscular dystrophy type 2G
autosomal recessive limb-girdle muscular dystrophy type 2H
autosomal recessive limb-girdle muscular dystrophy type 2I
autosomal recessive limb-girdle muscular dystrophy type 2J
autosomal recessive limb-girdle muscular dystrophy type 2K
autosomal recessive limb-girdle muscular dystrophy type 2L
autosomal recessive limb-girdle muscular dystrophy type 2M
autosomal recessive limb-girdle muscular dystrophy type 2N
autosomal recessive limb-girdle muscular dystrophy type 2O
autosomal recessive limb-girdle muscular dystrophy type 2P
autosomal recessive limb-girdle muscular dystrophy type 2Q
autosomal recessive limb-girdle muscular dystrophy type 2S
autosomal recessive limb-girdle muscular dystrophy type 2T
autosomal recessive limb-girdle muscular dystrophy type 2U
autosomal recessive limb-girdle muscular dystrophy type 2W
autosomal recessive limb-girdle muscular dystrophy type 2X
An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the BVES gene on chromosome 6q21. (DO)
autosomal recessive limb-girdle muscular dystrophy type 2Y
autosomal recessive limb-girdle muscular dystrophy type 2Z
Bradycardia
+
Brugada syndrome
+
Cardiac Conduction Defect, Nonprogressive
Cardiac Conduction Disease with or without Dilated Cardiomyopathy
chronic atrial and intestinal dysrhythmia
Commotio Cordis
Congenital Disorder of Glycosylation Type 1O
Heart Block
+
intellectual developmental disorder with cardiac arrhythmia
LANGUAGE DELAY AND ATTENTION DEFICIT-HYPERACTIVITY DISORDER/COGNITIVE IMPAIRMENT WITH OR WITHOUT CARDIAC ARRHYTHMIA
long QT syndrome
+
MUSCULAR DYSTROPHY, LIMB-GIRDLE, AUTOSOMAL RECESSIVE 28
muscular dystrophy-dystroglycanopathy type B14
muscular dystrophy-dystroglycanopathy type C12
muscular dystrophy-dystroglycanopathy type C8
myofibrillar myopathy 1
Parasystole
Pre-Excitation Syndromes
+
Premature Cardiac Complexes
+
QT Interval, Variation In
Secundum Atrial Septal Defect with Various Cardiac and Noncardiac Defects
short QT syndrome
+
Simpson-Golabi-Behmel syndrome type 1
Sinus Arrhythmia
+
Tachycardia
+
TANGO2-related metabolic encephalopathy and arrythmias
Ventricular Fibrillation
+
Ventricular Flutter
Woodhouse-Sakati syndrome
Synonyms
Exact Synonyms:
BVES-RELATED CONDITION ; CARDIAC ARRHYTHMIA WITH INCREASED SERUM CREATINE KINASE ; CARICK ; LGMD2X ; LGMDR25 ; limb-girdle muscular dystrophy, autosomal recessive 25 ; limb-girdle muscular dystrophy, type 2X
Primary IDs:
MIM:616812
Xrefs:
ORDO:476084
Definition Sources:
PMID:26642364
"DO" "DO"