Ataxia, and Sudden cardiac death

Diseases related with Ataxia and Sudden cardiac death

In the following list you will find some of the most common rare diseases related to Ataxia and Sudden cardiac death that can help you solving undiagnosed cases.


Top matches:

Medium match FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION Is also known as cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, with conduction defect 1|cdcd1|cardiomyopathy, congestive

Related symptoms:

  • Ataxia
  • Pain
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION

Medium match DILATED CARDIOMYOPATHY WITH ATAXIA


Dilated cardiomyopathy with ataxia (DCMA) is characterized by severe early onset (before the age of three years) dilated cardiomyopathy (DCM) with conduction defects (long QT syndrome), non-progressive cerebellar ataxia, testicular dysgenesis, and 3-methylglutaconic aciduria.

DILATED CARDIOMYOPATHY WITH ATAXIA Is also known as mga5|dcma|3-methylglutaconic aciduria type 5|cardiomyopathy, dilated, with ataxia|mga, type v|dcma syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Growth delay
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DILATED CARDIOMYOPATHY WITH ATAXIA

Medium match GIANT CELL ARTERITIS


Giant cell arteritis (GCA) is a large vessel vasculitis predominantly involving the arteries originating from the aortic arch and especially the extracranial branches of the carotid arteries.

GIANT CELL ARTERITIS Is also known as horton disease|giant cell arteritis|temporal arteritis|cranial arteritis|polymyalgia rheumatica|gca

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about GIANT CELL ARTERITIS

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Other less relevant matches:

Medium match ALEXANDER DISEASE; ALXDRD


In decreasing order of frequency, 3 forms of Alexander disease are recognized, based on age of onset: infantile, juvenile, and adult. Younger patients typically present with seizures, megalencephaly, developmental delay, and spasticity. In older patients, bulbar or pseudobulbar symptoms predominate, frequently accompanied by spasticity. The disease is progressive, with most patients dying within 10 years of onset. Imaging studies of the brain typically show cerebral white matter abnormalities, preferentially affecting the frontal region (Gorospe et al., 2002). All 3 forms have been shown to be caused by mutations in the GFAP gene.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALEXANDER DISEASE; ALXDRD

Medium match AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY


EDMD is characterized by myopathic changes in certain skeletal muscles and early contractures at the neck, elbows, and Achilles tendons, as well as cardiac conduction defects. 'Classic' Emery-Dreifuss muscular dystrophy (EDMD1 ) is an X-linked disorder caused by mutation in the emerin gene (EMD ) on Xq28 (Emery, 1989).For a discussion of genetic heterogeneity of EDMD, see {310300}.

AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY Is also known as scapuloilioperoneal atrophy with cardiopathy|emd2|muscular dystrophy, limb-girdle, type 1b, formerly|emery-dreifuss muscular dystrophy, autosomal dominant|edmd2|cardiomyopathy, dilated, with quadriceps myopathy|muscular dystrophy, proximal, type 1b, forme

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT EMERY-DREIFUSS MUSCULAR DYSTROPHY

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 GITELMAN SYNDROME; GTLMNS


Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (OMIM ).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

GITELMAN SYNDROME; GTLMNS Is also known as hypomagnesemia-hypokalemia, primary renotubular, with hypocalciuria|potassium and magnesium depletion

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GITELMAN SYNDROME; GTLMNS

Low match RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME


Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

Low match MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1


A distinct group of inborn defects of complex V (ATP synthase) is represented by the enzyme deficiency due to nuclear genome mutations characterized by a selective inhibition of ATP synthase biogenesis. Biochemically, the patients show a generalized decrease in the content of ATP synthase complex which is less than 30% of normal. Most cases present with neonatal-onset hypotonia, lactic acidosis, hyperammonemia, hypertrophic cardiomyopathy, and 3-methylglutaconic aciduria. Many patients die within a few months or years (summary by Mayr et al., 2010). Genetic Heterogeneity of Mitochondrial Complex V DeficiencyOther nuclear types of mitochondrial complex V deficiency include MC5DN2 (OMIM ), caused by mutation in the TMEM70 gene (OMIM ) on chromosome 8q21; MC5DN3 (OMIM ), caused by mutation in the ATP5E gene (ATP5F1E ) on chromosome 20q13; MC5DN4 (OMIM ), caused by mutation in the ATP5A1 gene (ATP5FA1 ) on chromosome 18q; and MC5DN5 (OMIM ), caused by mutation in the ATP5D gene (ATP5F1D ) on chromosome 19p13.Mutations in the mitochondrial-encoded MTATP6 (OMIM ) and MTATP8 (OMIM ) genes can also cause mitochondrial complex V deficiency (see, e.g., {551500} and {500003}).

MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1 Is also known as mitochondrial complex v (atp synthase) deficiency, atpaf2 type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 1; MC5DN1

Top 5 symptoms//phenotypes associated to Ataxia and Sudden cardiac death

Symptoms // Phenotype % cases
Arrhythmia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Sudden cardiac death. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Congestive heart failure

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Gait disturbance Growth delay Generalized hypotonia Hypertrophic cardiomyopathy Feeding difficulties Hypertension Muscular hypotonia Fatigue Ptosis Dysarthria Optic atrophy Hypothyroidism Respiratory insufficiency Cognitive impairment Kyphosis Vertigo Abdominal pain Depressivity Hearing impairment Constipation Short stature Pain Dilated cardiomyopathy Cardiac arrest Microcephaly Elevated serum creatine phosphokinase Nausea and vomiting Myopathy Acidosis Renal insufficiency Weight loss Fever Arthralgia Anxiety Joint stiffness Stroke Paresthesia Cerebral ischemia Rhabdomyolysis Sensorineural hearing impairment Neurological speech impairment Confusion Scoliosis Developmental regression Lactic acidosis Hyperreflexia Nephropathy Tremor Postural instability Increased serum lactate Vomiting Flexion contracture Hypercalciuria Poor coordination Clonus Dysmetria Diabetes mellitus Visual impairment Hyperlordosis Nystagmus Prolonged QT interval Atrioventricular block Ventricular arrhythmia Cardiomegaly Ventricular hypertrophy Atrial fibrillation Cryptorchidism Motor delay

Rare Symptoms - Less than 30% cases


Malabsorption Nausea Abnormal cerebellum morphology Pulmonic stenosis Muscle cramps Cerebral calcification Amenorrhea Hypotension Anemia Sleep disturbance Left ventricular failure Bradycardia Dementia Wide mouth Feeding difficulties in infancy Precocious puberty Hyporeflexia Carious teeth Facial palsy EEG abnormality Osteopenia Delayed puberty Dysphonia Ventricular fibrillation Dysphagia Midface retrusion Myocardial infarction Hypogonadotrophic hypogonadism Renal hypoplasia Ichthyosis Gingival overgrowth Reduced tendon reflexes Bundle branch block Involuntary movements Ischemic stroke Dyspnea Aortic valve stenosis Hemiparesis Pectus excavatum Obesity Skeletal muscle atrophy Oral-pharyngeal dysphagia Wide nasal bridge Tubulointerstitial abnormality Schizophrenia Hyperkinesis Nocturia Dehydration Type II diabetes mellitus Enuresis Peripheral neuropathy Abnormality of the cardiovascular system Drowsiness Heart block Vocal cord paralysis Dysphasia Short neck Paralysis Frontal bossing Hyperammonemia Encephalopathy Visual field defect Delayed skeletal maturation Intrauterine growth retardation Cerebellar hypoplasia Attention deficit hyperactivity disorder Abnormal heart morphology Diplopia Anorexia Osteoporosis Absent speech Tubulointerstitial nephritis 3-Methylglutaconic aciduria Cough Cerebral cortical atrophy Aortic dissection Gait ataxia Myalgia Autism Metabolic acidosis Gastroesophageal reflux Hyperhidrosis Erythema Visual loss Protruding ear Headache Ventriculomegaly Blindness Proteinuria Gait imbalance Cerebral atrophy Ophthalmoparesis Dystonia Ventricular tachycardia Hypospadias Macrocephaly Hypoglycemia Micrognathia Aciduria High palate Spasticity Mitral regurgitation Polyuria Chest pain Tachycardia Cataract Hypertonia Hepatomegaly Palpitations Amaurosis fugax Respiratory distress Abnormality of the dentition Diarrhea Pointed chin Edema of the dorsum of hands Open mouth Progressive hearing impairment Abnormal form of the vertebral bodies Adducted thumb Abnormal dermatoglyphics Hemivertebrae Recurrent urinary tract infections Abnormality of pelvic girdle bone morphology Cutis laxa Redundant skin Nephrolithiasis Amblyopia Widely spaced teeth Incoordination Reduced bone mineral density Increased body weight Narrow face Nephrocalcinosis Sacral dimple Arnold-Chiari malformation Failure to thrive in infancy Hypercalcemia Abnormality of dental enamel Hoarse voice Abnormal mitochondrial morphology Bicuspid aortic valve Abnormality of the fingernails Polycystic ovaries Cholelithiasis Spina bifida occulta Infantile muscular hypotonia Increased bone mineral density Dental malocclusion Recurrent otitis media Abnormality of the kidney Coarse facial features Umbilical hernia Pes planus Joint laxity Cleft lip Intellectual disability, moderate Low-set, posteriorly rotated ears Cleft palate Macrotia Abnormal facial shape Strabismus Prominent ear helix Irritability Morphological abnormality of the inner ear Autistic behavior Morphological abnormality of the vestibule of the inner ear Kyphoscoliosis Delayed speech and language development Episodic quadriplegia Malar flattening Intellectual disability, mild Behavioral abnormality Atrial septal defect Short nose Ventricular septal defect Myopia Long philtrum Epicanthus High forehead Depressed nasal bridge Hernia Patent ductus arteriosus Inguinal hernia Clinodactyly of the 5th finger Recurrent respiratory infections Glaucoma Micropenis Bilateral intracranial calcifications Craniosynostosis Thick lower lip vermilion Cochlear malformation Esotropia Otitis media Renal agenesis Microdontia Cochlear degeneration Tetralogy of Fallot Progressive night blindness Narrow forehead Paralytic ileus Hypotelorism Mitral valve prolapse Hypoplasia of penis Abnormality of extrapyramidal motor function Coarctation of aorta Hypsarrhythmia Small nail Abnormal mitochondrial shape Vesicoureteral reflux Abnormality of acid-base homeostasis Corneal opacity Blepharophimosis Homonymous hemianopia Scarring Abnormal cardiac septum morphology Broad forehead Small for gestational age Abnormal cochlea morphology Genu valgum Full cheeks Joint hyperflexibility Smooth philtrum Oral cleft Thick vermilion border Everted lower lip vermilion Hypodontia Broad nasal tip Macroglossia Radioulnar synostosis Cystic renal dysplasia Portal hypertension Inflammatory abnormality of the skin Stellate iris Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Generalized muscle weakness Hypokalemia Early onset of sexual maturation Polydipsia Blurred vision Episodic fever Hyperventilation Hypomagnesemia Renal salt wasting Alkalosis Dyssynergia Overfriendliness Tetany Unilateral renal hypoplasia Abnormality of the gastric mucosa Renovascular hypertension Abnormal social behavior Flat cornea Supravalvular aortic stenosis Impaired visuospatial constructive cognition Calcification of the aorta Myxomatous mitral valve degeneration Nystagmus-induced head nodding Paroxysmal bursts of laughter Abnormal carotid artery morphology Abnormality of the diencephalon Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Chondrocalcinosis Metabolic alkalosis Food intolerance Retrognathia Prolonged QTc interval Acute rhabdomyolysis Premature pubarche Elevated plasma acylcarnitine levels Premature thelarche Low-set ears Abnormality of cardiovascular system morphology Camptodactyly Ketonuria Short philtrum Prominent nasal bridge Oligohydramnios Spontaneous abortion Severe muscular hypotonia Rocker bottom foot Severe failure to thrive Torsade de pointes Myoglobinuria Increased circulating renin level Hypochloremia Periodic paralysis Pollakisuria Hypovolemia Hypocalciuria Hypokalemic alkalosis Hypokalemic metabolic alkalosis Renal potassium wasting Renal magnesium wasting Hyperactive deep tendon reflexes Salt craving Elevated hepatic transaminase Neurodegeneration Spastic tetraplegia Drooling Myopathic facies Spastic diplegia Infantile hypercalcemia Pelvic kidney Abnormality of the voice Abnormality of the vasculature Abnormality of lipid metabolism Posterior embryotoxon Arnold-Chiari type I malformation Nevus flammeus Soft skin Pulmonary artery stenosis Patellar dislocation Insomnia Multiple renal cysts Down-sloping shoulders Blue irides Hypoplasia of the zygomatic bone Chronic constipation Right ventricular hypertrophy Large earlobe Megalocornea Restlessness Abnormality of the cerebral vasculature Glucose intolerance Nephritis Chronic otitis media Obsessive-compulsive behavior Unilateral renal agenesis Abnormality of dental morphology Hypoplastic toenails Tracheoesophageal fistula Loss of consciousness Facial cleft Open bite Hallux valgus Premature graying of hair Vertebral segmentation defect Celiac disease High hypermetropia Prematurely aged appearance Abnormality of the neck Villous atrophy Hyperacusis Abnormality of the ankles Retinal vascular tortuosity Thyroid hypoplasia Abnormal endocardium morphology Aplasia/Hypoplasia of the iris Renal duplication Colonic diverticula Vascular tortuosity Overriding aorta Abnormal glucose tolerance Aortic arch aneurysm Obsessive-compulsive trait Synostosis of joints Abnormality of the bladder Renal artery stenosis Coronary artery stenosis Retinal arteriolar tortuosity Increased nuchal translucency Urethral stenosis Dyslexia Bladder diverticulum Abnormality of refraction Periorbital fullness Decreased plasma carnitine Peripheral pulmonary artery stenosis Subvalvular aortic stenosis Abnormal renal morphology Lacrimation abnormality Spotty hypopigmentation Parathyroid hyperplasia Peptic ulcer Periorbital edema Rectal prolapse Arterial stenosis Dysgraphia Abnormality of nervous system morphology Phonophobia Paronychia Goiter Abnormal macular morphology Proximal muscle weakness Microcoria Diffuse demyelination of the cerebral white matter Pes cavus Difficulty walking Rigidity Neonatal hypotonia Muscular dystrophy Recurrent singultus Limb muscle weakness Lower limb muscle weakness Falls Syncope Waddling gait Hypertriglyceridemia Hyperpigmented nevi Progressive macrocephaly Progressive muscle weakness Atrophy/Degeneration affecting the brainstem Encephalitis Self-injurious behavior Emotional lability Bowel incontinence Progressive spasticity Muscle fibrillation Increased CSF protein Pseudobulbar signs Megalencephaly Hypothermia Bulbar signs Aqueductal stenosis Hypersomnia Large face Frequent falls Elbow flexion contracture Leukoencephalopathy Supraventricular arrhythmia Limb-girdle muscle weakness Distal lower limb amyotrophy Shoulder girdle muscle weakness Achilles tendon contracture Distal lower limb muscle weakness Proximal muscle weakness in lower limbs Abnormal atrioventricular conduction Progressive proximal muscle weakness Increased LDL cholesterol concentration Atrial arrhythmia Shoulder girdle muscle atrophy Peroneal muscle atrophy Proximal lower limb amyotrophy Proximal muscle weakness in upper limbs Proximal amyotrophy Sprengel anomaly Knee flexion contracture Spinal muscular atrophy Scapular winging Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Back pain Lipodystrophy Limb-girdle muscular dystrophy Congenital muscular dystrophy Ankle contracture Myotonia Toe walking Calf muscle hypertrophy Mildly elevated creatine phosphokinase Difficulty climbing stairs Spinal rigidity Rimmed vacuoles Sleep apnea Abnormal autonomic nervous system physiology Left anterior fascicular block Glutaric aciduria Abnormality of the genital system Hypokinesia Microcytic anemia Perineal hypospadias Microvesicular hepatic steatosis Nonprogressive cerebellar ataxia Testicular dysgenesis Hepatic steatosis Noncompaction cardiomyopathy 3-Methylglutaric aciduria Penile hypospadias Normochromic microcytic anemia Edema Alopecia Decreased testicular size Postnatal growth retardation Arthritis Abnormal EKG Dilatation Increased variability in muscle fiber diameter Pericardial effusion Abnormality of the thyroid gland Amyloidosis Thromboembolism Myocarditis Paroxysmal ventricular tachycardia Atrial flutter Sinus bradycardia Left ventricular noncompaction Skeletal myopathy Reduced systolic function Premature atrial contractions Conductive hearing impairment Hepatic failure Muscle stiffness Abnormal pyramidal sign Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Retinal arteritis Jaw claudication Hydrocephalus Agenesis of corpus callosum Respiratory failure Abnormality of the cerebral white matter Glossitis Abnormality of eye movement Tetraplegia Gliosis Chorea Peripheral demyelination Leukodystrophy Arteritis Gastrointestinal infarctions Hematuria Elevated erythrocyte sedimentation rate Optic disc pallor Epistaxis Skin ulcer Meningitis Vasculitis Diabetes insipidus Pericarditis Impaired mastication Gangrene Arterial thrombosis Abnormal thrombocyte morphology Recurrent pharyngitis Abnormality of the pleura Mediastinal lymphadenopathy Abdominal aortic aneurysm Limb-girdle muscle atrophy Peroneal muscle weakness Hemeralopia Atopic dermatitis Hyperthyroidism Thyroiditis Abnormality of immune system physiology Primary adrenal insufficiency Pulmonary embolism Distal arthrogryposis Hashimoto thyroiditis Glomerulopathy Abnormality of visual evoked potentials Neonatal hypoglycemia Vitiligo Xerostomia Hypoparathyroidism Mitochondrial myopathy Basal ganglia calcification Progressive sensorineural hearing impairment Posterior subcapsular cataract Focal segmental glomerulosclerosis Personality changes Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Hemiplegia/hemiparesis Abnormality of neuronal migration Vertebral fusion Overlapping toe Adrenal insufficiency Aphasia Vestibular dysfunction Hyperkalemia Multiple lipomas Progressive external ophthalmoplegia Transient ischemic attack Abnormality of mitochondrial metabolism Spontaneous hematomas Dysesthesia Psychomotor deterioration Muscle fiber atrophy Writer's cramp Persistence of primary teeth Leber optic atrophy Gastroparesis Episodic vomiting Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Motor polyneuropathy Abnormality of the renal tubule Delusions Reduced consciousness/confusion Cardiorespiratory arrest Facial diplegia Renal tubular dysfunction Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Anterior hypopituitarism Hemianopia Stroke-like episode Seborrheic dermatitis Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hyponatremia Aortic aneurysm Ventricular escape rhythm Ophthalmoplegia Abnormality of the liver Nyctalopia Pruritus Generalized tonic-clonic seizures Lethargy Arthrogryposis multiplex congenita Congenital cataract Mental deterioration Anal atresia Peripheral axonal neuropathy Polymicrogyria Hirsutism Polyneuropathy Coma Abnormality of the pinna Apnea Sensory impairment Absent muscle fiber emerin Scapuloperoneal amyotrophy Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Proximal spinal muscular atrophy Decreased cervical spine flexion due to contractures of posterior cervical muscles Restricted neck movement due to contractures Hypertelorism Photophobia Cerebellar atrophy Areflexia Rod-cone dystrophy Myoclonus Hypogonadism Jaundice Generalized myoclonic seizures Migraine Hemiplegia Hypopigmented skin patches Exercise intolerance Purpura Macular degeneration Pancreatitis External ophthalmoplegia Ragged-red muscle fibers Mutism Generalized hirsutism Easy fatigability Growth abnormality Chronic kidney disease Cachexia Decreased nerve conduction velocity Bilateral ptosis Type I diabetes mellitus EMG abnormality Memory impairment Pulmonary arterial hypertension Hip dysplasia Specific learning disability Pigmentary retinopathy Generalized-onset seizure Bilateral sensorineural hearing impairment Nephrotic syndrome Status epilepticus Truncal ataxia Psychosis Hypertrichosis Decreased body weight Left ventricular hypertrophy Abnormality of retinal pigmentation Hallucinations Cerebral visual impairment Severe lactic acidosis



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