Cardiomyopathy, and Ischemic stroke

Diseases related with Cardiomyopathy and Ischemic stroke

In the following list you will find some of the most common rare diseases related to Cardiomyopathy and Ischemic stroke that can help you solving undiagnosed cases.


Top matches:

Medium match CARDIOMYOPATHY, DILATED, 1E; CMD1E


CARDIOMYOPATHY, DILATED, 1E; CMD1E Is also known as cdcd2|cardiomyopathy, dilated, with conduction defect 2|cardiomyopathy, dilated, with conduction disorder and arrhythmia

Related symptoms:

  • Cardiomyopathy
  • Congestive heart failure
  • Arrhythmia
  • Dyspnea
  • Stroke


SOURCES: MESH OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1E; CMD1E

Medium match HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME


Hypoparathyroidism-sensorineural deafness-renal disease syndrome is a rare, clinically heterogeneous genetic disorder characterized by the triad of hypoparathyroidism (H), sensorineural deafness (D) and renal disease (R).

HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME Is also known as barakat syndrome|hdrs|nephrosis, nerve deafness, and hypoparathyroidism|hdr syndrome|hypoparathyroidism, sensorineural deafness, and renal dysplasia syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Growth delay
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPOPARATHYROIDISM-SENSORINEURAL DEAFNESS-RENAL DISEASE SYNDROME

Medium match METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY


Methylmalonic aciduria is a genetically heterogeneous disorder of methylmalonate and cobalamin (cbl; vitamin B12) metabolism. Isolated methylmalonic aciduria is found in patients with mutations in the MUT gene causing partial, mut(-), or complete, mut(0), enzyme deficiency. This form is unresponsive to B12 therapy. Various forms of isolated methylmalonic aciduria also occur in a subset of patients with defects in the synthesis of the MUT coenzyme adenosylcobalamin (AdoCbl) and are classified according to complementation group: cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on chromosome 4q31, and cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24.Combined methylmalonic aciduria and homocystinuria may be seen in complementation groups cblC (OMIM ), cblD (OMIM ), and cblF (OMIM ).See the comprehensive review of Ledley (1990).

METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY Is also known as methylmalonic acidemia due to methylmalonyl-coa mutase deficiency mma due to mcm deficiency|methylmalonic aciduria, mut type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about METHYLMALONIC ACIDURIA DUE TO METHYLMALONYL-COA MUTASE DEFICIENCY

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Other less relevant matches:

Medium match PROPIONIC ACIDEMIA


Propionic acidemia (PA) is an organic aciduria caused by the deficient activity of the propionyl Coenzyme A carboxylase and is characterized by life threatening episodes of metabolic decompensation, neurological dysfunction and that may be complicated by cardiomyopathy.

PROPIONIC ACIDEMIA Is also known as glycinemia, ketotic|ketotic hyperglycinemia|propionyl-coa carboxylase deficiency|propionic aciduria|pcc deficiency|hyperglycinemia with ketoacidosis and leukopenia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROPIONIC ACIDEMIA

Medium match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Medium 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

Medium match MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Medium match WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Medium match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

Medium match KAWASAKI DISEASE


Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Ischemic stroke

Symptoms // Phenotype % cases
Stroke Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Fever Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Renal insufficiency Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Ischemic stroke. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability Myocardial infarction Hypertension Tubulointerstitial nephritis Nausea and vomiting Anemia Proteinuria Sensorineural hearing impairment Fatigue Sudden cardiac death Arrhythmia Abnormality of the kidney Diabetes mellitus Acidosis Myalgia Neurological speech impairment Abdominal pain Developmental regression Arthralgia Pain Global developmental delay Hypertrophic cardiomyopathy Postural instability Constipation Short stature Ptosis Vomiting Dilatation Hypothyroidism Mitral regurgitation Failure to thrive Abnormality of the cardiovascular system Growth delay Hearing impairment Abnormal endocardium morphology Dehydration Ataxia Coma Muscular hypotonia Nephropathy Respiratory distress Atrial fibrillation Cerebral ischemia Hepatomegaly Optic atrophy Respiratory insufficiency Abnormal heart valve morphology Dystonia Anorexia Pancreatitis Mitral valve prolapse Ventricular hypertrophy Cognitive impairment Subcutaneous nodule Pruritus Skin rash Coronary artery atherosclerosis Edema Dyspnea Visual impairment Arterial stenosis Cataract Diarrhea Tubulointerstitial abnormality Headache Depressivity Arthritis Anxiety Feeding difficulties in infancy Malabsorption Osteoporosis Feeding difficulties Chest pain Generalized hypotonia Lethargy Atrioventricular block Nephrocalcinosis Progressive sensorineural hearing impairment Migraine Nephrotic syndrome Chronic kidney disease Hematuria Muscle weakness

Rare Symptoms - Less than 30% cases


Midface retrusion Hyperkeratotic papule Irritability Peripheral neuropathy Dysmetria Behavioral abnormality Carious teeth Vasculitis Attention deficit hyperactivity disorder Hyperhidrosis Coarse facial features Erythema Protruding ear Jaundice Gastroesophageal reflux Corneal opacity Autism Renovascular hypertension Aortic root aneurysm Cerebral cortical atrophy Involuntary movements Hyponatremia Hypercalciuria Schizophrenia Macular degeneration Hypogonadotrophic hypogonadism Cutis laxa Redundant skin Gingival overgrowth Tricuspid regurgitation Hemiplegia/hemiparesis Hemiparesis Abnormal mitral valve morphology Multiple lipomas Telangiectasia of the skin Pulmonary arterial hypertension Abnormality of the cerebral vasculature Gait imbalance Peripheral arterial stenosis Angina pectoris Amaurosis fugax Type II diabetes mellitus Restrictive cardiomyopathy Weight loss Vertigo Delayed puberty Vascular tortuosity Interstitial pulmonary abnormality Gait disturbance Celiac disease Tremor Dysarthria Inflammatory abnormality of the eye Glomerulopathy Microcephaly Coronary artery stenosis Retinal vascular tortuosity Elevated erythrocyte sedimentation rate Dysesthesia Abnormality of the renal tubule Abnormal aortic valve morphology Ascending tubular aorta aneurysm Periorbital fullness Abnormal myocardium morphology Large earlobe Renal tubular dysfunction Transient ischemic attack Xerostomia Myopathy Abnormality of the dentition Paresthesia Exercise intolerance Abnormality of lipid metabolism Cerebellar hypoplasia Nausea Thick vermilion border Muscle cramps Delayed skeletal maturation Elevated serum creatine phosphokinase Thick lower lip vermilion Left ventricular hypertrophy Kyphosis Purpura Bundle branch block Aortic regurgitation Arteritis Progressive hearing impairment Reduced bone mineral density Easy fatigability Hemiplegia Hypertonia Personality changes Polyuria Loss of consciousness Reduced consciousness/confusion Hyperreflexia Cerebral calcification Ketonuria Immunodeficiency Thrombocytopenia Stage 5 chronic kidney disease Metabolic acidosis Aciduria Pancytopenia Hyperammonemia Organic aciduria Hypoparathyroidism Methylmalonic aciduria Hyperglycinemia Cerebellar hemorrhage Cerebral atrophy Encephalopathy Apnea Lactic acidosis Distal renal tubular acidosis Renal tubular acidosis Episodic vomiting Cleft palate Dilated cardiomyopathy Syncope Palpitations Bradycardia Ventricular arrhythmia Heart block Nystagmus Abnormal heart morphology Basal ganglia calcification Rod-cone dystrophy Vesicoureteral reflux Bilateral sensorineural hearing impairment Hyperkinesis Polycystic ovaries Psoriasiform dermatitis Unilateral renal agenesis Abnormality of immune system physiology Supraventricular tachycardia Papule Visual loss Retinopathy Scarring Joint hyperflexibility Myopia Intrauterine growth retardation Blindness Scoliosis Small for gestational age Abnormal cardiac septum morphology Blepharophimosis Craniosynostosis Wide mouth Low-set, posteriorly rotated ears Joint stiffness Paralysis Autistic behavior Broad forehead Hyperlordosis Pulmonic stenosis Arteriosclerosis Pes planus Intellectual disability, moderate Glaucoma Obesity Pectus excavatum Patent ductus arteriosus Inguinal hernia Clinodactyly of the 5th finger Recurrent respiratory infections Micropenis Cleft lip High forehead Macrotia Kyphoscoliosis Osteopenia Umbilical hernia Smooth philtrum Joint laxity Genu valgum Oral cleft Absent speech Narrow face Open mouth Abnormal form of the vertebral bodies Recurrent urinary tract infections Nephrolithiasis Amblyopia Aortic valve stenosis Hoarse voice Increased bone mineral density Small nail Increased body weight Pointed chin Hemivertebrae Abnormality of dental enamel Abnormality of the fingernails Spina bifida occulta Abnormal dermatoglyphics Recurrent otitis media Renal hypoplasia Everted lower lip vermilion Otitis media Sleep disturbance Hypodontia Broad nasal tip Macroglossia Full cheeks Dental malocclusion Esotropia Renal agenesis Hypsarrhythmia Microdontia Tetralogy of Fallot Narrow forehead Hypotelorism Hypoplasia of penis Abnormality of extrapyramidal motor function Coarctation of aorta Cardiomegaly Hernia Intellectual disability, mild Malar flattening Psychomotor deterioration Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hemianopia Motor polyneuropathy Muscle fiber atrophy Left ventricular failure Writer's cramp Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Gastroparesis Right bundle branch block Auditory hallucinations Speech apraxia Seborrheic dermatitis Renal Fanconi syndrome Facial diplegia Neonatal hypoglycemia Vitiligo Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Delusions Cardiorespiratory arrest Aortic dissection Stroke-like episode Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Left bundle branch block Ventricular extrasystoles Atherosclerosis Anterior hypopituitarism Abnormal nerve conduction velocity Psychotic episodes Long philtrum Delayed speech and language development Micrognathia Strabismus Abnormal facial shape Cryptorchidism Spasticity Flexion contracture Depressed nasal bridge Morphological abnormality of the inner ear Epicanthus Wide nasal bridge Macrocephaly Ventricular septal defect Atrial septal defect Bicuspid aortic valve Short nose Prominent ear helix Morphological abnormality of the vestibule of the inner ear Abnormality of the cerebellar vermis Cochlear malformation Crohn's disease Hemeralopia Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Progressive night blindness Bilateral intracranial calcifications Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Widely spaced teeth Arnold-Chiari malformation Sacral dimple Descending aorta hypoplasia Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Dyssynergia Stellate iris Functional abnormality of male internal genitalia Vocal cord dysfunction Bilateral vocal cord paralysis Atrophy/Degeneration involving the corticospinal tracts Skin ulcer Abnormality of skin pigmentation Hemoptysis Gangrene Bruising susceptibility Abnormal pattern of respiration Thyroid hemiagenesis Elfin facies Gastrointestinal infarctions Flat cornea Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Food intolerance Infantile hypercalcemia Abnormality of the gastric mucosa Abnormal social behavior Supravalvular aortic stenosis Medial flaring of the eyebrow Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Myxomatous mitral valve degeneration Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Gastrointestinal hemorrhage Blue sclerae Abnormality of the bladder Cervical lymphadenopathy Cholecystitis Abnormal oral mucosa morphology Glossitis Abnormal pericardium morphology Conjunctival hyperemia CSF pleocytosis Coronary artery aneurysm Cheilitis Abnormality of nail color Arthralgia/arthritis Pyuria Abnormal emotion/affect behavior Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Strawberry tongue Aseptic leukocyturia Synovitis Elevated C-reactive protein level Hypertensive crisis Conjunctivitis Increased inflammatory response Respiratory tract infection Lymphadenopathy Hepatitis Cholestasis Decreased liver function Meningitis Cranial nerve paralysis Recurrent pharyngitis Hypoalbuminemia Scaling skin Leukocytosis Pericarditis Acute kidney injury Myocarditis Allergy Renal artery stenosis Synostosis of joints Infantile muscular hypotonia Restlessness Hallux valgus Premature graying of hair Vertebral segmentation defect High hypermetropia Prematurely aged appearance Facial cleft Insomnia Glucose intolerance Megalocornea Posterior embryotoxon Arnold-Chiari type I malformation Nevus flammeus Soft skin Poor coordination Pulmonary artery stenosis Open bite Tracheoesophageal fistula Patellar dislocation Failure to thrive in infancy Hashimoto thyroiditis Adducted thumb Abnormality of pelvic girdle bone morphology Incoordination Dysphonia Cholelithiasis Hypercalcemia Radioulnar synostosis Hypoplastic toenails Precocious puberty Portal hypertension Abnormality of the voice Nephritis Chronic otitis media Obsessive-compulsive behavior Abnormality of dental morphology Abnormality of the vasculature Multiple renal cysts Nocturia Increased nuchal translucency Dysgraphia Abnormality of nervous system morphology Phonophobia Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Thyroid hypoplasia Periorbital edema Aplasia/Hypoplasia of the iris Renal duplication Colonic diverticula Abnormality of the ankles Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Rectal prolapse Peptic ulcer Down-sloping shoulders Villous atrophy Vocal cord paralysis Blue irides Hypoplasia of the zygomatic bone Chronic constipation Right ventricular hypertrophy Abnormality of the neck Enuresis Dyslexia Cystic renal dysplasia Abnormality of refraction Decreased plasma carnitine Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Abnormal renal morphology Lacrimation abnormality Bladder diverticulum Abnormality of visual evoked potentials Primary adrenal insufficiency Atopic dermatitis Severe vision loss Tetraparesis Thickened nuchal skin fold Impotence Abnormality of the mouth Severe intrauterine growth retardation Orthostatic hypotension Striae distensae Anhidrosis Abnormality of cardiovascular system morphology Glycosuria Wheezing Unilateral renal dysplasia Parathyroid hypoplasia Abnormal EKG Abnormality of T cell physiology Emphysema Choreoathetosis Bilateral renal dysplasia Prominent supraorbital ridges Abnormal intestine morphology Macrocytic anemia Corneal dystrophy Drusen Tinnitus Leukopenia Abnormality of the hand Diabetes insipidus Spastic tetraparesis Glomerulosclerosis Polydipsia Paraparesis Heart murmur Clubbing Impaired vibratory sensation Unilateral deafness Edema of the lower limbs Ventricular tachycardia Abnormal cornea morphology T-wave inversion Miosis Abnormal renal physiology Chronic pain Tubulointerstitial fibrosis Abnormal thrombosis Uterus didelphys Gastrointestinal dysmotility Supraventricular arrhythmia Conjunctival telangiectasia Microalbuminuria Primary hypothyroidism Biventricular hypertrophy Abnormality of cardiovascular system physiology Decreased female libido Proximal renal tubular acidosis Pseudopapilledema Elevated serum creatinine Chronic obstructive pulmonary disease Tubular atrophy Abnormality of the gastrointestinal tract Oligospermia Thickening of the glomerular basement membrane Heat intolerance Reduced ejection fraction Clubbing of fingers Achalasia Asymmetric septal hypertrophy Sinus bradycardia Myocardial fibrosis Chronic fatigue Abnormality of femur morphology Abnormality of the nose Septate vagina High-frequency hearing impairment Mitral stenosis Hyperlipidemia Hypocalcemic seizures Abnormal atrioventricular valve morphology Peripapillary chorioretinal atrophy Peau d'orange Subretinal fluid Erythematous papule Premature occlusive vascular stenosis Medial calcification of medium-sized arteries Medial calcification of small arteries Generalized arterial calcification Hyperglycinuria Acute encephalopathy Propionicacidemia Ketoacidosis Ketosis Limb hypertonia Poor appetite Medial calcification of large arteries Localized skin lesion Posteriorly rotated ears Angioid streaks of the fundus Pulmonary insufficiency Ectopic calcification Choroidal neovascularization Intolerance to protein Retinal hemorrhage Intermittent claudication Metamorphopsia Increased level of hippuric acid in urine Propionyl-CoA carboxylase deficiency Abnormality of connective tissue Civatte bodies Accelerated atherosclerosis Vascular calcification Subcutaneous calcification Arterial calcification Pulmonary edema Tachypnea Delayed CNS myelination Methylmalonic acidemia Chronic metabolic acidosis Lack of skin elasticity Abdominal distention Abnormal globus pallidus morphology Urinary incontinence Hypotension Abnormal lung morphology Bulbous nose Homocystinuria Hypohidrosis Lymphedema Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Aminoaciduria Thick eyebrow Tachycardia Eczema Abnormal thrombocyte morphology Hyperkeratosis Mandibular prognathia Overgrowth Decreased antibody level in blood Carcinoma Neutropenia Abnormality of the nervous system Cough Metabolic ketoacidosis Prominent nasal bridge Muscular hypotonia of the trunk Abnormality of the cerebral white matter Hypoglycemia Redundant neck skin Recurrent infections High palate Vascular skin abnormality Corneal crystals Drowsiness Reduced systolic function Status epilepticus Psychosis Premature atrial contractions Hypertrichosis Third degree atrioventricular block Decreased body weight Abnormality of retinal pigmentation Generalized-onset seizure Hallucinations Cerebral visual impairment Clonus Cardiac arrest Truncal ataxia EMG abnormality Generalized hirsutism Atrial standstill Pigmentary retinopathy Type I diabetes mellitus Polyneuropathy Anal atresia Confusion Ichthyosis Peripheral axonal neuropathy Polymicrogyria Hirsutism Abnormal cerebellum morphology Amenorrhea Generalized myoclonic seizures Sensory impairment Hyperextensible skin Increased serum lactate Memory impairment Hip dysplasia Specific learning disability ST segment elevation External ophthalmoplegia Congenital cataract Visual field defect Overlapping toe Adrenal insufficiency Aphasia Vestibular dysfunction Dysphasia Hyperkalemia Prolonged QT interval Focal segmental glomerulosclerosis Vertebral fusion Hyperthyroidism Rhabdomyolysis Thyroiditis Excessive wrinkled skin Pulmonary embolism Distal arthrogryposis Abnormality of neuronal migration Mask-like facies Reduced tendon reflexes Decreased nerve conduction velocity Ragged-red muscle fibers Hypopigmented skin patches Mutism Atrial arrhythmia Goiter Growth abnormality Cachexia Atrial flutter Bifid scrotum Bilateral ptosis Aortic aneurysm Abnormality of mitochondrial metabolism Abnormality of the skin Ophthalmoparesis Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Intracranial hemorrhage Ophthalmoplegia Limb pain Tenesmus Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Heavy proteinuria Unexplained fevers Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate ST segment depression Mucosal telangiectasiae Vaginal atresia Angiokeratoma Abnormality of temperature regulation Nephrogenic diabetes insipidus Decreased glomerular filtration rate Aplasia of the uterus Increased blood urea nitrogen Reduced sperm motility Obstructive lung disease Concentric hypertrophic cardiomyopathy Impaired temperature sensation Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Ovarian cyst Cornea verticillata Hypertelorism Arthrogryposis multiplex congenita EEG abnormality Gait ataxia Hypocalcemia Horizontal nystagmus Renal dysplasia Acne Photophobia Mental deterioration Hypogonadism Abnormality of the pinna Ectodermal dysplasia Abnormality of the thorax Abnormality of the liver Nyctalopia Hydronephrosis Generalized tonic-clonic seizures Multicystic kidney dysplasia Myoclonus Motor delay Short neck Tetany Severe postnatal growth retardation Skeletal muscle atrophy Chorioretinal atrophy Abnormal retinal morphology Dysphagia Ventriculomegaly Hypermelanotic macule Dementia Cerebellar atrophy Reduced visual acuity Cutis marmorata Polycystic kidney dysplasia Areflexia Hyporeflexia Abnormality of the urinary system Abnormal gallbladder morphology



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