Abnormal facial shape, and Atrial fibrillation

Diseases related with Abnormal facial shape and Atrial fibrillation

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Atrial fibrillation that can help you solving undiagnosed cases.


Top matches:

Low match LEFT VENTRICULAR NONCOMPACTION


Left ventricular noncompaction (LVNC) is a rare cardiomyopathy characterized anatomically by prominent left ventricular trabeculae and deep intratrabecular recesses causing progressive systolic and diastolic dysfunction, conduction abnormalities, and occasionally thromboembolic events.

LEFT VENTRICULAR NONCOMPACTION Is also known as spongy myocardium|lvnc|left ventricular hypertrabeculation|left ventricular noncompaction 1 with or without congenital heart defects

Related symptoms:

  • Abnormal facial shape
  • Ventricular septal defect
  • Respiratory distress
  • Congestive heart failure
  • Patent ductus arteriosus


SOURCES: OMIM ORPHANET MENDELIAN

More info about LEFT VENTRICULAR NONCOMPACTION

Low match FAMILIAL MITRAL VALVE PROLAPSE


Mitral valve prolapse (MVP) has a prevalence of approximately 2 to 3% in the general population. It is characterized by fibromyxomatous changes in mitral leaflet tissue, with upward displacement of 1 or both leaflets into the left atrium during systole; MVP is diagnosed when the movement of the mitral leaflets exceeds 2 mm. In classic MVP, leaflets are at least 5 mm thick, whereas in nonclassic MVP, they are less than 5 mm thick. Auscultatory findings, when present, consist of a midsystolic click and/or a late systolic murmur. The natural history of MVP varies from benign, with a normal life expectancy, to severe complications associated with the development of significant mitral regurgitation, including congestive heart failure, bacterial endocarditis, atrial fibrillation, thromboembolism, and even sudden death. However, complications are uncommon, affecting less than 3% of individuals with MVP (Freed et al., 1999; Grau et al., 2007; Delling and Vasan, 2014).Grau et al. (2007) provided a detailed review of the genetics of mitral valve prolapse. Delling and Vasan (2014) reviewed the epidemiology and pathophysiology of MVP, with discussion of disease progression, genetics, and molecular basis. Genetic Heterogeneity of Familial Mitral Valve ProlapseSeveral loci for mitral valve prolapse (MVP) have been been mapped: MVP1 to chromosome 16p; MVP2 (OMIM ) to chromosome 11p; and MVP3 (OMIM ) to chromosome 13q.

FAMILIAL MITRAL VALVE PROLAPSE Is also known as myxomatous mitral valve prolapse 1|barlow syndrome|pmv|mmvp1|floppy mitral valve|myxomatous valvular disease, familial|mitral regurgitation, familial|mvp prolapsed mitral valve|mitral valve prolapse, myxomatous 1|click-murmur syndrome|mitral valve prolaps

Related symptoms:

  • Intellectual disability
  • Short stature
  • Growth delay
  • Micrognathia
  • Pain


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL MITRAL VALVE PROLAPSE

Low match AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY


Emery-Dreifuss muscular dystrophy is characterized classically by the triad of weakness of the shoulder and pelvic girdle muscles, contractures of the elbows, neck, and Achilles tendon, and cardiac involvement, most commonly arrhythmias (summary by Jimenez-Escrig et al., 2012).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as edmd3

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Micrognathia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE EMERY-DREIFUSS MUSCULAR DYSTROPHY

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Other less relevant matches:

Low match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Low match BOR SYNDROME


Branchiootorenal (BOR) syndrome is characterized by branchial arch anomalies (branchial clefts, fistulae, cysts), hearing impairment (malformations of the auricle with pre-auricular pits, conductive or sensorineural hearing impairment), and renal malformations (urinary tree malformation, renal hypoplasia or agenesis, renal dysplasia, renal cysts).

BOR SYNDROME Is also known as melnick-fraser syndrome|branchiootorenal syndrome|branchiootorenal dysplasia

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Cleft palate
  • High palate
  • Myopia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BOR SYNDROME

Low match FRIEDREICH ATAXIA


Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Low match ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15


Atrial fibrillation (AF) is a supraventricular tachyarrhythmia characterized by uncoordinated atrial activation with consequent deterioration of atrial mechanical function. It is the most common sustained cardiac rhythm disturbance, and its prevalence increases as the population ages. An estimated 70,000 strokes each year are caused by atrial fibrillation (summary by Oberti et al., 2004).For a discussion of genetic heterogeneity of atrial fibrillation, see {608583}.

Related symptoms:

  • Cardiomyopathy
  • Abnormal heart morphology
  • Tachycardia
  • Atrial fibrillation
  • Supraventricular tachycardia


SOURCES: OMIM MENDELIAN

More info about ATRIAL FIBRILLATION, FAMILIAL, 15; ATFB15

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Atrial fibrillation

Symptoms // Phenotype % cases
Cardiomyopathy Common - Between 50% and 80% cases
Tachycardia Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Uncommon - Between 30% and 50% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Ptosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Atrial fibrillation. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Arrhythmia Intellectual disability High palate Dysphagia Short stature Growth delay Micrognathia Pain Scoliosis Pectus excavatum Posteriorly rotated ears Left ventricular hypertrophy Muscle weakness Limb muscle weakness Supraventricular tachycardia Mitral valve prolapse Chest pain High, narrow palate Hypertension Myopathy Dilated cardiomyopathy Lymphedema Lower limb muscle weakness Renal insufficiency Ventricular hypertrophy Kyphoscoliosis Nystagmus Asymmetric septal hypertrophy Abnormal heart morphology Concentric hypertrophic cardiomyopathy Seizures Cognitive impairment Edema Myopia Vertigo Sensorineural hearing impairment Hearing impairment Clumsiness Respiratory insufficiency Feeding difficulties Cryptorchidism Global developmental delay Pulmonic stenosis Palpitations Long face Ventricular septal defect Atrial septal defect Ventricular arrhythmia Sudden cardiac death Atrioventricular block Mitral regurgitation Joint laxity Restrictive cardiomyopathy

Rare Symptoms - Less than 30% cases


Hypertelorism Dilatation Postprandial hyperglycemia Headache Bundle branch block Hydrocephalus Vomiting Exercise intolerance Schwannoma Constipation Fever Abnormality of the kidney Ventricular tachycardia Cataract Broad forehead Hyperkeratosis Hyperhidrosis Abnormality of the nervous system Large earlobe Areflexia Diabetes mellitus Respiratory failure Osteopenia Loose anagen hair Facial palsy Insulin resistance Abdominal pain Narrow face Congenital hip dislocation Carcinoma Infantile muscular hypotonia Glucose intolerance Coarse facial features Glycosuria Strabismus Neoplasm Epicanthus Low-set ears Poor suck Abnormal EKG Sparse hair Peripheral neuropathy Dysarthria Optic atrophy Fatigue Talipes equinovarus Depressivity Postnatal growth retardation Pes cavus Arnold-Chiari malformation Cerebral cortical atrophy Patent ductus arteriosus Impaired vibratory sensation Webbed neck Respiratory distress Failure to thrive in infancy Low-set, posteriorly rotated ears Depressed nasal bridge Abnormality of cardiovascular system physiology Generalized hypotonia Downslanted palpebral fissures Short neck Hydrops fetalis Intellectual disability, mild Abnormality of cardiovascular system morphology Hernia Body odor Myocardial fibrosis Arnold-Chiari type I malformation T-wave inversion Syncope Hypogonadism Proptosis Neuroblastoma Polyhydramnios Gastroesophageal reflux Failure to thrive Hyperglycemia Biventricular hypertrophy Abdominal distention Abnormal myocardium morphology Thick vermilion border Hematuria Achilles tendon contracture Abnormality of the cardiovascular system Dyspnea Flexion contracture Progeroid facial appearance Aortic regurgitation Waddling gait Abnormal lung morphology Heart murmur Abnormal heart valve morphology Abnormal mitral valve morphology Thick lower lip vermilion Muscular hypotonia Long philtrum Reduced tendon reflexes Lumbar hyperlordosis Tricuspid regurgitation Abnormal thrombosis Atrial flutter Intellectual disability, moderate Muscular dystrophy Permanent atrial fibrillation Proximal muscle weakness Skeletal muscle atrophy Delayed puberty Kyphosis Gait disturbance Supraventricular arrhythmia Paresthesia Absent speech Apnea Tubulointerstitial fibrosis Osteoporosis Abnormality of the renal tubule Hypoglycemia Angina pectoris Clubbing of fingers Severe short stature Dysesthesia Abnormal cornea morphology Inguinal hernia Chronic obstructive pulmonary disease Delayed skeletal maturation Feeding difficulties in infancy Periorbital fullness Irritability Sinus bradycardia Abnormality of the skin Growth hormone deficiency Abnormality of femur morphology Premature birth Nevus Full cheeks Sepsis Macroglossia Tetraplegia Ascites Postural instability Sleep disturbance Wide nose Joint hypermobility Chronic pain Abnormality of the nose Astigmatism Joint hyperflexibility Hypermetropia Arthrogryposis multiplex congenita High-frequency hearing impairment Pectus carinatum Cerebral atrophy Achalasia Gastrointestinal dysmotility Abnormal aortic valve morphology Miosis Abnormal renal physiology Wide mouth Conjunctival telangiectasia ST segment depression Short nose Hyperkeratotic papule Abnormal ST segment Abnormal common carotid artery morphology Angiokeratoma Acroparesthesia Chronic fatigue Heavy proteinuria Obstructive lung disease Impaired temperature sensation Tenesmus Tubular atrophy Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyposthenuria Shortened QT interval Increased blood urea nitrogen Angiokeratoma corporis diffusum Abnormality of the forehead Decreased lacrimation Abnormality of the gastrointestinal tract Oligospermia Shortened PR interval Coronary artery stenosis Mucosal telangiectasiae Unexplained fevers Heat intolerance Overgrowth Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Reduced sperm motility Distal renal tubular acidosis Microalbuminuria Cornea verticillata Abnormality of the dentition Anteverted nares Ventriculomegaly Abnormality of the skeletal system Frontal bossing Functional abnormality of the gastrointestinal tract Macrocephaly Hepatomegaly Peripheral arterial stenosis Motor delay Delayed speech and language development Primary hypothyroidism Abnormal endocardium morphology Reduced ejection fraction Increased carotid artery intimal medial thickness Decreased female libido Abnormal glomerular filtration rate Vascular skin abnormality Retinal vascular tortuosity Corneal crystals Abnormality of the common coagulation pathway Limb pain Abnormality of temperature regulation Increased glomerular filtration rate Tubulointerstitial nephritis Elevated serum creatinine Nephrogenic diabetes insipidus Decreased glomerular filtration rate Vascular tortuosity Hip dysplasia Soft skin Eczema Leukemia Microcephaly Brachydactyly Splenomegaly Thrombocytopenia Clinodactyly Rod-cone dystrophy Abnormal cardiac septum morphology Hypotrichosis Systolic heart murmur Facial asymmetry Bruising susceptibility Triangular face Abnormal bleeding Dental malocclusion Wide intermamillary distance Amenorrhea Coarctation of aorta Increased corneal curvature Thickened Achilles tendon Primary amenorrhea Choroid plexus papilloma Ganglioneuroblastoma Frontal hirsutism Vestibular Schwannoma Deep-set nails Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Neonatal sepsis Bladder carcinoma Congenital neuroblastoma Cardiomyocyte hypertrophy Macrocephaly at birth Enlarged cerebellum Myofiber disarray Vitreomacular adhesion Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Low posterior hairline Amblyopia Hypopnea Superior pectus carinatum Synovitis Multiple lentigines Asymmetry of the thorax Optic disc hypoplasia Lymphangioma Hypoplastic aortic arch Amegakaryocytic thrombocytopenia Reduced factor XII activity Nonimmune hydrops fetalis Neurofibrosarcoma Panuveitis Juvenile myelomonocytic leukemia Pectus excavatum of inferior sternum Gonadal neoplasm Reduced factor XIII activity Nasogastric tube feeding Preductal coarctation of the aorta Shield chest Drusen Plagiocephaly Radial deviation of finger Azoospermia Bicuspid aortic valve Pterygium Elevated alkaline phosphatase Patent foramen ovale Myelodysplasia Cubitus valgus Abnormality of the coagulation cascade Malignant hyperthermia Leukocytosis Abnormality of color vision Neurofibromas Cystic hygroma Male infertility Abnormality of the vertebral column Abnormality of blood and blood-forming tissues Gonadal dysgenesis Transitional cell carcinoma of the bladder Shyness Apraxia Large for gestational age Pyloric stenosis Redundant skin Aortic aneurysm Pleural effusion Bilateral cryptorchidism Hypoplastic toenails Rocker bottom foot Neurodevelopmental delay Laryngomalacia Reduced subcutaneous adipose tissue Keratoconus Curly hair Rhabdomyolysis Ulnar deviation of finger Generalized hyperpigmentation Tracheomalacia Central hypotonia Hyperextensible skin Relative macrocephaly Neonatal hypoglycemia Abnormality of the hair Epidermal acanthosis Hypoplasia of dental enamel Decreased body weight Long eyelashes Hyperpigmentation of the skin Wide anterior fontanel Cafe-au-lait spot Hoarse voice Hemangioma Pointed chin Narrow palate Abnormality of dental enamel Short chin Abnormality of the fingernails Acanthosis nigricans Cutis laxa Abnormal dermatoglyphics Syringomyelia Renal tubular dysfunction Ulnar deviation of the wrist Large face Rhabdomyosarcoma Broad femoral neck Abnormality of earlobe Limited elbow movement Fetal distress Bronchomalacia Papilloma Thin nail Pneumothorax Deep plantar creases Hematemesis Melena Triangular mouth Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Duodenal ulcer Hyperextensibility of the finger joints Concave nail Obstructive sleep apnea Large forehead Severe postnatal growth retardation Microscopic hematuria Thickened nuchal skin fold Fragile nails Megalencephaly Barrel-shaped chest Woolly hair Thick upper lip vermilion Verrucae Hypoplasia of teeth Central apnea Lack of skin elasticity Abnormality of the testis Redundant neck skin Labial hypoplasia Deep palmar crease Broad philtrum Fasting hypoglycemia Edema of the lower limbs Stroke Transient ischemic attack Oligohydramnios Pulmonary hypoplasia Bifid uvula Vesicoureteral reflux Intestinal malrotation Renal agenesis Microdontia Bilateral sensorineural hearing impairment Microtia Renal hypoplasia Renal dysplasia Preauricular skin tag Multicystic kidney dysplasia Renal hypoplasia/aplasia Atresia of the external auditory canal Polycystic kidney dysplasia Flat face Paralysis Epiphora Limb joint contracture Multiple joint contractures Bulbar palsy Weak cry Centrally nucleated skeletal muscle fibers Difficulty running Insulin-resistant diabetes mellitus Nemaline bodies Abnormal glucose tolerance Abnormality of the pinna Spinal deformities Type 1 fibers relatively smaller than type 2 fibers Cleft palate Microphthalmia Retrognathia Conductive hearing impairment Hydronephrosis Cupped ear Preauricular pit Respiratory insufficiency due to muscle weakness Cholesteatoma Lacrimal duct aplasia Abnormality of the renal collecting system Abnormality of the cerebrum Abnormal lacrimal duct morphology Incomplete partition of the cochlea type II Dilatated internal auditory canal Enlarged cochlear aqueduct Unilateral renal hypoplasia Gustatory lacrimation Ataxia Spasticity Visual impairment Cerebellar atrophy Dystonia Visual loss Euthyroid goiter Bilateral renal dysplasia Ectopic kidney Overbite Premature graying of hair Mixed hearing impairment External ear malformation Stenosis of the external auditory canal Lacrimation abnormality Ureteropelvic junction obstruction Lacrimal duct stenosis Bilateral renal agenesis Renal steatosis Abnormality of the middle ear ossicles Branchial cyst Arteria lusoria Branchial fistula Renal malrotation Cochlear malformation Hypoplasia of the cochlea Hyperinsulinemia Progressive muscle weakness Hyperactivity Bacterial endocarditis Striae distensae Thromboembolism Endocarditis Tricuspid valve prolapse Asthenia Mastoiditis Quadricuspid aortic valve Dental crowding Reversed usual vertebral column curves Obesity Elevated serum creatine phosphokinase Hyperlordosis Joint stiffness Ichthyosis Hypertriglyceridemia Disproportionate tall stature Limb undergrowth Elbow flexion contracture Abnormal left ventricle morphology Right bundle branch block Hypoplastic left heart Pulmonary embolism Left bundle branch block Wolff-Parkinson-White syndrome Concave nasal ridge Left ventricular noncompaction Right ventricular failure Convex nasal ridge Left ventricular noncompaction cardiomyopathy Noncompaction cardiomyopathy Abnormality of the fascia Upslanted palpebral fissure Thin upper lip vermilion Short philtrum Small hand Diplopia Scapular winging Decreased fetal movement Pelvic girdle muscle atrophy Shoulder girdle muscle atrophy Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Limb-girdle muscle atrophy Ventricular escape rhythm Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Absent muscle fiber emerin Pelvic girdle muscle weakness Decreased cervical spine flexion due to contractures of posterior cervical muscles Restricted neck movement due to contractures Neonatal hypotonia Muscular hypotonia of the trunk Ophthalmoplegia Hirsutism Generalized muscle weakness Increased LDL cholesterol concentration Proximal muscle weakness in lower limbs EMG: myopathic abnormalities Restrictive ventilatory defect Back pain Lipodystrophy Limb-girdle muscular dystrophy Myotonia Congenital muscular dystrophy Toe walking Generalized amyotrophy Spinal rigidity Hyporeflexia of lower limbs Rimmed vacuoles Sprengel anomaly Ankle contracture Shoulder girdle muscle weakness Limb-girdle muscle weakness Decreased HDL cholesterol concentration Increased connective tissue Babinski sign Gait ataxia Xerostomia Nephropathy Malabsorption Nausea and vomiting Stage 5 chronic kidney disease Nausea Bulbous nose Thick eyebrow Muscle cramps Pruritus Urinary incontinence Hypotension Nephrotic syndrome Myocardial infarction Subcutaneous nodule Anorexia Hypohidrosis Abnormality of the cerebral white matter Papule Fasciculations Arthralgia Atrophic superior cerebellar peduncle Anemia Diarrhea Behavioral abnormality Midface retrusion Hypothyroidism Mandibular prognathia Myalgia Corneal opacity Arthritis Anxiety Proteinuria Developmental regression Skin rash Cough Prominent nasal bridge Bradycardia Abnormal autonomic nervous system physiology Structural foot deformity Progressive sensorineural hearing impairment Anhidrosis Emphysema Loss of consciousness Impotence Coronary artery atherosclerosis Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Orthostatic hypotension Diabetes insipidus Celiac disease Telangiectasia of the skin Glomerulopathy Renal tubular acidosis Wheezing Aortic root aneurysm Abnormality of lipid metabolism Polyuria Clubbing Spontaneous abortion Reduced bone mineral density Aminoaciduria Purpura Hyperlipidemia Abnormal intestine morphology Progressive hearing impairment Corneal dystrophy Ischemic stroke Tinnitus Personality changes Easy fatigability Chronic kidney disease Prominent supraorbital ridges Abnormality of the hand Hemiplegia Glomerulosclerosis Polydipsia Impaired visually enhanced vestibulo-ocular reflex Abolished vibration sense Reduced visual acuity Muscle stiffness Intention tremor Involuntary movements Lower limb spasticity Limb ataxia Spastic gait Truncal ataxia Paraparesis Peripheral demyelination Spastic paraparesis Slurred speech Incoordination Cachexia Dysdiadochokinesis Hammertoe Sensory axonal neuropathy Optic disc pallor Sensory impairment Visual field defect Dysmetria Pes planus Difficulty walking Pallor Abnormal pyramidal sign Abnormality of the foot Abnormality of eye movement Abnormality of movement Unsteady gait Chorea Peripheral axonal neuropathy Falls Inability to walk Sensory neuropathy Neurodegeneration Abnormal cerebellum morphology Progressive cerebellar ataxia Decreased motor nerve conduction velocity Hyperactive deep tendon reflexes Spinal cord posterior columns myelin loss Hemifacial hypertrophy Reduced systolic function Decreased sensory nerve conduction velocity Diabetic ketoacidosis Cerebellar cortical atrophy Upper limb amyotrophy Incomprehensible speech Abnormality of the autonomic nervous system Decreased amplitude of sensory action potentials Sinus tachycardia Muscular subvalvular aortic stenosis Cervical spinal cord atrophy Mitochondrial malic enzyme reduced Decreased pyruvate carboxylase activity Abnormality of the dentate nucleus Temporal optic disc pallor Palmar hyperhidrosis Hand muscle atrophy Abnormal saccadic eye movements Optic neuropathy Areflexia of lower limbs Thoracic scoliosis Abnormality of visual evoked potentials Heart block Ketosis Urinary bladder sphincter dysfunction Ketoacidosis Increased reactive oxygen species production Hyposmia Positive Romberg sign Spinocerebellar tract degeneration Gait imbalance Impaired proprioception Subvalvular aortic stenosis Poor fine motor coordination Abnormal echocardiogram Lower limb amyotrophy Postductal coarctation of the aorta



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