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:
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
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
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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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
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
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
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
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
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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Micrognathia and Omphalocele, related diseases and genetic alterations
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