Dysarthria, and Autism

Diseases related with Dysarthria and Autism

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Ataxia
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55

Focal epilepsy with speech disorder is a childhood-onset seizure disorder with a highly variable phenotype. Seizures typically occur in the temporal lobe, or rolandic brain region, which affects speech and language, and electroencephalogram (EEG) characteristically shows centrotemporal spike-wave discharges. EEG abnormalities often occur during sleep and may manifest as continuous spike-wave discharges during slow-wave sleep (CSWS or CSWSS). FESD represents an electroclinical spectrum that ranges from severe early-onset seizures associated with delayed psychomotor development, persistent speech difficulties, and mental retardation to a more benign entity characterized by childhood onset of mild or asymptomatic seizures associated with transient speech difficulties followed by remission of seizures in adolescence and normal psychomotor development. There is incomplete penetrance and intrafamilial variability, even among family members who carry the same GRIN2A mutation (summary by Lesca et al., 2013; Lemke et al., 2013; Carvill et al., 2013).The disorder represented here encompasses several clinical entities, including Landau-Kleffner syndrome (LKS), epileptic encephalopathy with continuous spike and wave during slow-wave sleep (ECSWS; CSWSS), autosomal dominant rolandic epilepsy, mental retardation, and speech dyspraxia (ADRESD; RESDAD), and benign epilepsy with centrotemporal spikes (BECTS; see {117100}). LKS is classically described as a childhood-onset variant of epileptic aphasia. It is associated with EEG abnormalities occurring in the temporal lobe of the language-dominant hemisphere, even in the absence of overt clinical seizures. LKS is sometimes referred to as an 'acquired aphasia' because most affected children show normal psychomotor development until the onset of seizures, usually between 3 and 7 years, although some may have prior delayed development. A hallmark of the disorder is severe impairment in auditory language comprehension and speech. Some patients may also have persistent intellectual disability or behavioral abnormalities reminiscent of autism or attention deficit-hyperactivity disorder. EEG abnormalities typically include centrotemporal spikes suggestive of rolandic epilepsy or continuous spike and waves during slow-wave sleep. The presence of CSWS is associated with more widespread behavioral and cognitive regression than LKS, although the 2 disorders may be considered part of a spectrum. There is controversy about the precise definition of LKS and its relationship to CSWS that stems mainly from the phenotypic heterogeneity of the disorder (summary by Stefanatos, 2011).

EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD Is also known as aphasia, acquired, with epilepsy

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPSY, FOCAL, WITH SPEECH DISORDER AND WITH OR WITHOUT MENTAL RETARDATION; FESD

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Other less relevant matches:

Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart is an autosomal dominant syndrome characterized by onset in infancy of developmental delay, intellectual disability, and behavioral disorders, such as autism spectrum disorders. About half of patients have additional abnormalities, most commonly involving the eye, heart, and genitourinary system. The phenotype is reminiscent of that observed in patients with 1p36 deletion syndrome (OMIM ); RERE is located in the proximal 1p36 critical region (summary by Fregeau et al., 2016).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT ANOMALIES OF THE BRAIN, EYE, OR HEART; NEDBEH

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

High 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

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

High 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

Top 5 symptoms//phenotypes associated to Dysarthria and Autism

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Autistic behavior Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Autism. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Delayed speech and language development

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Gastroesophageal reflux Feeding difficulties Hearing impairment Attention deficit hyperactivity disorder Depressivity Behavioral abnormality Abnormal heart morphology Generalized hypotonia Abnormality of the cardiovascular system EEG abnormality Cerebral cortical atrophy Hypertelorism Hypothyroidism Visual impairment Strabismus Epicanthus Dysphagia Hypertension Anxiety Pain Micrognathia Growth delay Low-set, posteriorly rotated ears Hemiparesis Scoliosis Failure to thrive Ptosis Abnormal facial shape Hypertrophic cardiomyopathy Neurological speech impairment Microcephaly Feeding difficulties in infancy Abnormality of the dentition Tremor Muscular hypotonia Failure to thrive in infancy Macrocephaly Cataract Dental malocclusion Cardiomyopathy Cryptorchidism Blindness Congestive heart failure Hypertonia Kyphosis Delayed skeletal maturation Osteoporosis Optic atrophy Abnormality of the kidney Peripheral axonal neuropathy Pruritus Obsessive-compulsive behavior Pulmonic stenosis Cerebral visual impairment Malabsorption Vesicoureteral reflux Genu valgum Myopia Osteopenia Intellectual disability, mild Coarctation of aorta Abnormality of cardiovascular system morphology Ventriculomegaly Ventricular septal defect Frontal bossing Downslanted palpebral fissures Constipation Open bite Hyperreflexia Hyperactivity Postural instability Irritability Speech apraxia Stroke Dysphasia Dysmetria Developmental regression Nystagmus Status epilepticus Generalized myoclonic seizures Abnormal cerebellum morphology Gait ataxia Gait disturbance Peripheral neuropathy Encephalopathy

Rare Symptoms - Less than 30% cases

Thick vermilion border Tubulointerstitial abnormality Abnormal cardiac septum morphology Scarring Sleep disturbance Paresthesia Full cheeks Gait imbalance Cerebral ischemia Tubulointerstitial nephritis Abnormality of skin pigmentation Narrow forehead Specific learning disability Tetralogy of Fallot Mitral valve prolapse Umbilical hernia Clinodactyly of the 5th finger Coarse facial features Headache Malar flattening High hypermetropia Abnormal renal morphology Neoplasm Anemia Respiratory insufficiency Hydrocephalus Atrial septal defect Depressed nasal bridge Visual loss Leukemia Hernia Glaucoma Weight loss Kyphoscoliosis Pectus excavatum Inguinal hernia High forehead Macrotia Paralysis Cardiomegaly Hypogonadotrophic hypogonadism Myocardial infarction Carious teeth Cerebral atrophy Elevated serum creatine phosphokinase Arnold-Chiari type I malformation Cerebellar hypoplasia Diabetes mellitus Abdominal pain Proteinuria Abnormality of dental morphology Erythema Hypoplasia of the zygomatic bone Ischemic stroke Nausea and vomiting Ichthyosis Increased nuchal translucency Sudden cardiac death Subvalvular aortic stenosis Type II diabetes mellitus Ventricular hypertrophy Involuntary movements Decreased body weight Abnormality of refraction Renal insufficiency Schizophrenia Gingival overgrowth Incoordination Hypsarrhythmia Open mouth Cutis laxa Atopic dermatitis Cafe-au-lait spot Redundant skin Chronic otitis media Bilateral ptosis Hypercalciuria Reduced bone mineral density Precocious puberty Vomiting Neurofibromas Multiple cafe-au-lait spots Short nose Renal artery stenosis Renovascular hypertension Sensorineural hearing impairment Hepatomegaly Short neck Respiratory distress Myopathy Protruding ear Long philtrum Hyporeflexia Aphasia Cleft palate Generalized-onset seizure Memory impairment Dysdiadochokinesis Blepharophimosis Posteriorly rotated ears Mask-like facies Hypoplasia of the corpus callosum Anteverted nares Intrauterine growth retardation Language impairment Bipolar affective disorder Wide nasal bridge Abnormality of the cerebral white matter Obsessive-compulsive trait Dysesthesia Muscle weakness Cerebellar atrophy Mental deterioration Poor fine motor coordination Aggressive behavior Dementia Myalgia Abnormal nerve conduction velocity High palate Low-set ears Apnea Smooth philtrum Sleep apnea Progressive cerebellar ataxia Polymicrogyria Intellectual disability, moderate Intellectual disability, severe Infantile muscular hypotonia Urinary incontinence Hypermetropia Motor delay Wide mouth Broad forehead Small for gestational age Melanocytic nevus Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Generalized hyperpigmentation Pleural effusion Curly hair Biparietal narrowing Abnormal heart valve morphology Ectropion Abnormality of hair texture Long palpebral fissure Abnormality of the sternum Infantile spasms Neurodevelopmental delay Aplasia/Hypoplasia of the eyebrow Excessive wrinkled skin Cavernous hemangioma Multiple lentigines Hydroureter Malnutrition Large for gestational age Absent eyebrow Heart murmur Abnormal carotid artery morphology Cubitus valgus Poor appetite Myxomatous mitral valve degeneration Abnormality of the pulmonary artery Abnormality of the gastric mucosa Thickened helices Dystrophic fingernails Abnormality of the optic nerve Abnormality of the testis Delayed CNS myelination Impaired visuospatial constructive cognition Slow-growing hair Abnormal hair pattern Abnormal myocardium morphology Abnormal mitral valve morphology Abnormal social behavior Supravalvular aortic stenosis Flat cornea Deep palmar crease Infantile hypercalcemia Sparse eyebrow Alopecia of scalp Premature skin wrinkling Abnormal eyelash morphology Paroxysmal bursts of laughter Gastrointestinal dysmotility Enlarged kidney Absent eyelashes Unilateral renal hypoplasia Hyperextensibility of the finger joints Thick upper lip vermilion Abnormality of the ulna Abnormality of the gastrointestinal tract Abnormal aortic valve morphology Short attention span Calcification of the aorta Woolly hair Scaling skin Multiple renal cysts Brittle hair Joint hypermobility Nail dystrophy Dolichocephaly Hypotrichosis Astigmatism Dry skin Long face Falls Early onset of sexual maturation Bulbous nose Bruising susceptibility Retinal dystrophy Hepatic steatosis High, narrow palate Palmoplantar keratoderma Pectus carinatum Sparse hair Abnormal bleeding Hyperkeratosis Vocal cord dysfunction Descending aorta hypoplasia Thrombocytopenia Alopecia Prominent forehead Hyperhidrosis Proptosis Respiratory tract infection Polyhydramnios Functional abnormality of male internal genitalia Stellate iris Dyssynergia Hydronephrosis Telecanthus Abnormality of the eye Abdominal distention Overfriendliness Abnormality of the diencephalon Abnormality of the genitourinary system Sparse eyelashes Oculomotor apraxia Sparse or absent eyelashes Abnormal palate morphology Aplasia/Hypoplasia of the corpus callosum Hemangioma Delayed gross motor development Abnormality of the nail Optic nerve hypoplasia Palmoplantar hyperkeratosis Abnormality of vision Relative macrocephaly Poor suck Hyperextensible skin Deep philtrum Narrow palate Aspiration Nevus Progressive visual loss Intestinal malrotation Nystagmus-induced head nodding Premature birth Thyroid hemiagenesis Webbed neck Growth hormone deficiency Bilateral vocal cord paralysis Hyperpigmentation of the skin Elfin facies Medial flaring of the eyebrow Low posterior hairline Fine hair Inflammatory abnormality of the skin Thickened skin Lymphedema Food intolerance Retinal arteriolar tortuosity Pelvic kidney Dysphonia Sacral dimple Arnold-Chiari malformation Adducted thumb Abnormality of pelvic girdle bone morphology Polycystic ovaries Arterial stenosis Cholelithiasis Widely spaced teeth Hypercalcemia Radioulnar synostosis Rectal prolapse Portal hypertension Abnormality of the voice Periorbital edema Nephritis Dysgraphia Progressive hearing impairment Unilateral renal agenesis Narrow face Mitral regurgitation Abnormal form of the vertebral bodies Recurrent urinary tract infections Nephrolithiasis Amblyopia Aortic valve stenosis Hoarse voice Increased bone mineral density Abnormal dermatoglyphics Increased body weight Pointed chin Hemivertebrae Nephrocalcinosis Abnormality of dental enamel Abnormality of the fingernails Spina bifida occulta Peptic ulcer Hypoplastic toenails Thick lower lip vermilion Abnormality of lipid metabolism Abnormality of the neck Large earlobe Insomnia Right ventricular hypertrophy Chronic constipation Blue irides Megalocornea Posterior embryotoxon Enuresis Nevus flammeus Soft skin Poor coordination Pulmonary artery stenosis Abnormality of the vasculature Patellar dislocation Vocal cord paralysis Abnormality of the cerebral vasculature Restlessness Tracheoesophageal fistula Vertebral segmentation defect Glucose intolerance Polyuria Loss of consciousness Cystic renal dysplasia Hallux valgus Bladder diverticulum Premature graying of hair Celiac disease Villous atrophy Lacrimation abnormality Prematurely aged appearance Peripheral pulmonary artery stenosis Decreased plasma carnitine Periorbital fullness Dyslexia Facial cleft Recurrent otitis media Small nail Endocarditis Nocturia Cutaneous T-cell lymphoma Synostosis of joints Inappropriate crying Abnormality of the auditory canal Multiple palmar creases Eyelid fasciculation Aortic arch aneurysm Morphological abnormality of the gastrointestinal tract Multiple plantar creases Oral aversion Spasticity Overriding aorta Abnormality of the ankles Vascular tortuosity Flexion contracture Abnormality of the bladder Puberty and gonadal disorders Colonic diverticula Hypoplasia of the frontal lobes Frontal balding Anterior creases of earlobe Abnormality of the optic disc Abnormal tricuspid valve morphology Patchy alopecia Hyperacusis Optic nerve dysplasia Generalized ichthyosis Abnormal location of ears Down-sloping shoulders Coronary artery stenosis Laryngeal cleft Functional abnormality of the gastrointestinal tract Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Midface retrusion Renal duplication Renal hypoplasia Abnormality of nervous system morphology Joint hyperflexibility Oral cleft Everted lower lip vermilion Hypodontia Broad nasal tip Macroglossia Chest pain Esotropia Craniosynostosis Otitis media Renal agenesis Microdontia Dehydration Hypotelorism Hypoplasia of penis Abnormality of extrapyramidal motor function Corneal opacity Joint stiffness Aplasia/Hypoplasia of the iris Patent ductus arteriosus Absent speech Abnormal endocardium morphology Thyroid hypoplasia Obesity Retinal vascular tortuosity Abnormal glucose tolerance Urethral stenosis Recurrent respiratory infections Hyperlordosis Micropenis Parathyroid hyperplasia Phonophobia Arthralgia Pes planus Joint laxity Cleft lip Bicuspid aortic valve Personality changes Splenomegaly Meningioma Freckling Osteomalacia Renal cell carcinoma Severe vision loss Overweight Increased reactive oxygen species production Gangrene Neoplasm of the endocrine system Pulmonary fibrosis Myocardial fibrosis Brain neoplasm Astrocytoma Aqueductal stenosis Parathyroid adenoma Pheochromocytoma Complete atrioventricular canal defect Tibial bowing Hypophosphatemia Night sweats Bone pain Hypoglycemia Facial asymmetry Recurrent fractures Lymphoma Gastrointestinal hemorrhage Overgrowth Aganglionic megacolon Sensorimotor neuropathy Sensory axonal neuropathy Spina bifida Atherosclerosis Venous thrombosis Breast carcinoma Sarcoma Back pain Clitoral hypertrophy Anomalous pulmonary venous return Paraganglioma Abnormality of the skeletal system Cerebral artery stenosis Optic nerve glioma Subcutaneous neurofibromas Acute promyelocytic leukemia Plexiform neurofibroma Inguinal freckling Spinal neurofibromas Arterial fibromuscular dysplasia Tibial pseudoarthrosis Neuroma Brow ptosis Fever Skeletal muscle atrophy Fatigue Diarrhea Dystonia Arrhythmia Neurofibrosarcoma Vestibular Schwannoma Carcinoid tumor Neoplasm of the central nervous system Rhabdomyosarcoma Nasolacrimal duct obstruction Glioma Schwannoma Renal phosphate wasting Chronic myelogenous leukemia Lisch nodules Gastrointestinal stroma tumor Embryonal rhabdomyosarcoma Fibular bowing Leiomyosarcoma Dural ectasia Epigastric pain Soft tissue sarcoma Pseudoarthrosis Single ventricle Axillary freckling Dilatation Receptive language delay Rod-cone dystrophy Apathy Intention tremor Limb ataxia Horizontal nystagmus Abnormal autonomic nervous system physiology Paraparesis Spastic paraparesis Premature ovarian insufficiency Postural tremor Hypotension Impotence Agitation Global brain atrophy Bowel incontinence Abnormality of the thyroid gland Resting tremor Atrophy/Degeneration affecting the brainstem Bradykinesia Brain atrophy Action tremor Perisylvian polymicrogyria Absence seizures Atonic seizures Focal-onset seizure Febrile seizures Epileptic encephalopathy Apraxia Epileptic spasms Agnosia Parkinsonism Oromotor apraxia EEG with centrotemporal focal spike waves Continuous spike and waves during slow sleep Rigidity Proximal muscle weakness Abnormality of movement Distal sensory impairment Urinary bladder sphincter dysfunction Diffuse cerebral atrophy Central sleep apnea Trigonocephaly Triangular face Bifid uvula Delayed myelination Dental crowding Stereotypy Hypercholesterolemia Patent foramen ovale Oral-pharyngeal dysphagia Neonatal hypotonia Poor eye contact Echolalia Abnormality of chromosome segregation Hypocholesterolemia Abnormality of the pharynx Prominent nasal tip Expressive language delay Hypoplasia of the maxilla Mandibular prognathia Olivopontocerebellar atrophy Diffuse cerebellar atrophy Astrocytosis Disinhibition Kinetic tremor Saccadic smooth pursuit Pollakisuria Abnormality of brainstem morphology Impaired distal vibration sensation Retrocollis Broad eyebrow Inertia Subcortical dementia Impaired tandem gait Microphthalmia Hypospadias Postnatal growth retardation Coloboma Cerebellar vermis hypoplasia Areflexia Myoclonus Edema Aortic dissection Mitochondrial myopathy Progressive external ophthalmoplegia Posterior subcapsular cataract Transient ischemic attack Delusions Cardiorespiratory arrest Facial diplegia Renal tubular dysfunction Heart block Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Reduced consciousness/confusion Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Hypoparathyroidism Xerostomia Retinal pigment epithelial atrophy Thyroiditis Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Glomerulopathy Basal ganglia calcification Hyperthyroidism Rhabdomyolysis Abnormality of immune system physiology Vitiligo Primary adrenal insufficiency Pulmonary embolism Distal arthrogryposis Drowsiness Hashimoto thyroiditis Abnormality of visual evoked potentials Neonatal hypoglycemia Left ventricular failure Abnormality of peripheral nerve conduction Visual field defect Paralytic ileus Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Abnormal cochlea morphology Abnormal macular morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Spotty hypopigmentation Hemeralopia Proximal tubulopathy Writer's cramp Ileus Hemianopia Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Psychomotor deterioration Muscle fiber atrophy Persistence of primary teeth Crohn's disease Leber optic atrophy Spontaneous hematomas Gastroparesis Amaurosis fugax Auditory hallucinations Renal Fanconi syndrome Psychotic episodes Abnormality of the cerebellar vermis Prolonged QT interval Hyperkalemia Hypogonadism Amenorrhea Polyneuropathy Coma Muscle cramps Sensory impairment Migraine Increased serum lactate Hip dysplasia Cerebral calcification Hirsutism Pigmentary retinopathy Bilateral sensorineural hearing impairment Nephrotic syndrome Pulmonary arterial hypertension Psychosis Atrial fibrillation Hypertrichosis Nephropathy Nausea Anorexia Dilated cardiomyopathy Dyspnea Acidosis Jaundice Photophobia Abnormality of the pinna Abnormality of the liver Nyctalopia Generalized tonic-clonic seizures Lactic acidosis Lethargy Arthrogryposis multiplex congenita Ophthalmoplegia Congenital cataract Delayed puberty Anal atresia Confusion Vertigo Left ventricular hypertrophy Abnormality of retinal pigmentation Vestibular dysfunction Intestinal obstruction Cachexia Decreased nerve conduction velocity Hemiplegia Aortic aneurysm Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis Aplasia/Hypoplasia of the cerebellum Chronic kidney disease Bifid scrotum Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Bundle branch block Atrioventricular block Growth abnormality Hallucinations Purpura Clonus Cardiac arrest Truncal ataxia EMG abnormality Generalized hirsutism Type I diabetes mellitus Exercise intolerance Macular degeneration Easy fatigability Pancreatitis External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Hypopigmented skin patches Mutism Goiter Hyperkinesis Atrophy/Degeneration involving the corticospinal tracts


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