Ataxia, and Ischemic stroke

Diseases related with Ataxia and Ischemic stroke

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


Top matches:

Medium match VASCULITIS DUE TO ADA2 DEFICIENCY


Vasculitis due to ADA2 deficiency is a rare, genetic, systemic and rheumatologic disease due to adenosine deaminase-2 inactivating mutations, combining variable features of autoinflammation, vasculitis, and a mild immunodeficiency. Variable clinical presentation includes chronic or recurrent systemic inflammation with fever, livedo reticularis or racemosa, early-onset ischemic or hemorrhagic strokes, peripheral neuropathy, abdominal pain, hepatosplenomegaly, portal hypertension, cutaneous polyarteritis nodosa, variable cytopenia and immunoglobulin deficiency.

VASCULITIS DUE TO ADA2 DEFICIENCY Is also known as ada2 deficiency|vasculitis due to dada2

Related symptoms:

  • Ataxia
  • Pain
  • Anemia
  • Hypertension
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about VASCULITIS DUE TO ADA2 DEFICIENCY

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

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

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Other less relevant matches:

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

Low match CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2


Related symptoms:

  • Seizures
  • Ataxia
  • Headache
  • Gait ataxia
  • Stroke


SOURCES: OMIM MESH MENDELIAN

More info about CEREBRAL CAVERNOUS MALFORMATIONS 2; CCM2

Low match PARKINSON DISEASE, LATE-ONSET; PD


Parkinson disease was first described by James Parkinson in 1817. It is the second most common neurodegenerative disorder after Alzheimer disease (AD ), affecting approximately 1% of the population over age 50 (Polymeropoulos et al., 1996). ReviewsWarner and Schapira (2003) reviewed the genetic and environmental causes of Parkinson disease. Feany (2004) reviewed the genetics of Parkinson disease and provided a speculative model of interactions among proteins implicated in PD. Lees et al. (2009) provided a review of Parkinson disease, with emphasis on diagnosis, neuropathology, and treatment. Genetic Heterogeneity of Parkinson DiseaseSeveral loci for autosomal dominant Parkinson disease have been identified, including PARK1 (OMIM ) and PARK4, caused by mutation in or triplication of the alpha-synuclein gene (SNCA ), respectively, on 4q22; PARK5 (OMIM ), caused by mutation in the UCHL1 gene on 4p13; PARK8 (OMIM ), caused by mutation in the LRRK2 gene (OMIM ) on 12q12; PARK11 (OMIM ), caused by mutation in the GIGYF2 gene (OMIM ) on 2q37; PARK13 (OMIM ), caused by mutation in the HTRA2 gene (OMIM ) on 2p13; PARK17 (OMIM ), caused by mutation in the VPS35 gene (OMIM ) on 16q11; and PARK18 (OMIM ), caused by mutation in the EIF4G1 gene (OMIM ) on 3q27.Several loci for autosomal recessive early-onset Parkinson disease have been identified: PARK2 (OMIM ), caused by mutation in the gene encoding parkin (PARK2 ) on 6q26; PARK6 (OMIM ), caused by mutation in the PINK1 gene (OMIM ) on 1p36; PARK7 (OMIM ), caused by mutation in the DJ1 gene (PARK7 ) on 1p36; PARK14 (OMIM ), caused by mutation in the PLA2G6 gene (OMIM ) on 22q13; PARK15 (OMIM ), caused by mutation in the FBXO7 gene (OMIM ) on 22q12-q13; PARK19A (OMIM ) and PARK19B (see {615528}), caused by mutation in the DNAJC6 gene (OMIM ) on 1p32; and PARK20 (OMIM ), caused by mutation in the SYNJ1 gene (OMIM ) on 21q22.PARK3 (OMIM ) has been mapped to chromosome 2p13; PARK10 (OMIM ) has been mapped to chromosome 1p34-p32; PARK16 (OMIM ) has been mapped to chromosome 1q32. See also PARK21 (OMIM ). A locus on the X chromosome has been identified (PARK12 ). There is also evidence that mitochondrial mutations may cause or contribute to Parkinson disease (see {556500}). Susceptibility to the development of the more common late-onset form of Parkinson disease has been associated with polymorphisms or mutations in several genes, including GBA (OMIM ), MAPT (OMIM ), MC1R (OMIM ), ADH1C (OMIM ), and genes at the HLA locus (see, e.g., HLA-DRA, {142860}). Each of these risk factors independently may have a modest effect on disease development, but together may have a substantial cumulative effect (Hamza et al., 2010).Susceptibility to PD may also be conferred by expanded trinucleotide repeats in several genes causing other neurologic disorders usually characterized by spinocerebellar ataxia (SCA), including the ATXN2 (OMIM ), ATXN3 (OMIM ), TBP (OMIM ), and ATXN8OS (OMIM ) genes.

PARKINSON DISEASE, LATE-ONSET; PD Is also known as park

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about PARKINSON DISEASE, LATE-ONSET; PD

Low match DRAVET SYNDROME


Dravet syndrome (DS) is a genetic epilepsy of childhood characterized by a variety of drug-resistant seizures often induced by fever, presenting in previously healthy children, and which frequently leads to cognitive and motor impairment.

DRAVET SYNDROME Is also known as smei|severe myoclonus epilepsy of infancy|ds|severe myoclonic epilepsy of infancy|dravet syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about DRAVET SYNDROME

Low match MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2


MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2 Is also known as mhp2

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 2; FHM2

Low match AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY


This syndrome is characterised by childhood-onset progressive ataxia and cerebellar atrophy.

AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY Is also known as arca2|autosomal recessive cerebellar ataxia type 2|spinocerebellar ataxia, autosomal recessive 9|scar9|autosomal recessive ataxia due to coenzyme q10 deficiency|autosomal recessive spinocerebellar ataxia type 9

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE ATAXIA DUE TO UBIQUINONE DEFICIENCY

Low match CADASIL


CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary cerebrovascular disorder characterized by mid-adult onset of recurrent subcortical ischemic stroke and cognitive impairment progressing to dementia in addition to migraines with aura and mood disturbances seen in about a third of patients.

CADASIL Is also known as dementia, hereditary multi-infarct type|cadasil|cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy|casil|hereditary multi-infarct dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about CADASIL

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

Symptoms // Phenotype % cases
Stroke Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Fever

Uncommon Symptoms - Between 30% and 50% cases


Developmental regression

Common Symptoms - More than 50% cases


Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Hemiparesis Dysarthria Headache Depressivity Vertigo Coma Postural instability Aphasia Pain Dysmetria Generalized tonic-clonic seizures Hemiplegia Dystonia Vomiting Muscular hypotonia Migraine Hypertension Gait ataxia Behavioral abnormality Hyperreflexia Tubulointerstitial abnormality Nausea and vomiting Encephalopathy Respiratory distress Myopathy Elevated serum creatine phosphokinase Dysphagia Diabetes mellitus Abnormal cerebellum morphology Gait disturbance Neurological speech impairment Constipation Nausea EEG abnormality Visual impairment Dementia Confusion Myoclonus Cerebral cortical atrophy Tubulointerstitial nephritis Attention deficit hyperactivity disorder Sensorineural hearing impairment Delayed speech and language development Microcephaly Mental deterioration Renal insufficiency Failure to thrive Status epilepticus Anemia Peripheral neuropathy Hepatomegaly Optic atrophy Abdominal pain Cerebral ischemia Personality changes Abnormality of extrapyramidal motor function Cerebral hemorrhage Hypertonia Intellectual disability, moderate Generalized hypotonia

Rare Symptoms - Less than 30% cases


Restlessness Cerebellar hypoplasia Generalized-onset seizure Hypothyroidism Autism Generalized myoclonic seizures Mask-like facies Stroke-like episode Osteoporosis Gait imbalance Dysphasia Abnormality of the cardiovascular system Increased CSF lactate Abnormality of nervous system morphology Retinal arteriolar tortuosity Gastroesophageal reflux Abnormal pyramidal sign Phonophobia Transient ischemic attack Drowsiness Delayed skeletal maturation Migraine with aura Sudden cardiac death Memory impairment Intellectual disability, mild Visual loss Hypercalciuria Photophobia Loss of consciousness Carious teeth Psychosis Ventricular hypertrophy Lactic acidosis Involuntary movements Gingival overgrowth Hallucinations Strabismus Cerebral visual impairment Paresthesia Truncal ataxia Neurodevelopmental delay Malabsorption EMG abnormality Amaurosis fugax Spasticity Type II diabetes mellitus Bradykinesia Hypogonadotrophic hypogonadism Protruding ear Exercise intolerance Feeding difficulties in infancy Increased serum lactate Hypertrophic cardiomyopathy Schizophrenia Proteinuria Anxiety Diplopia Abnormality of visual evoked potentials Cerebral atrophy Fatigue Tetraparesis Dehydration Nephropathy Lethargy Abnormality of the kidney Acidosis Cardiomyopathy Respiratory insufficiency Kyphosis Spastic tetraparesis Myocardial infarction Leukopenia Purpura Pancytopenia Ophthalmoplegia Sleep disturbance Abnormality of the liver Myalgia Immunodeficiency Pancreatitis Autistic behavior Motor delay Congestive heart failure Feeding difficulties Ptosis Cataract Muscle weakness Blindness Growth delay Cerebellar atrophy Short stature Nystagmus Abnormality of the dentition Microdontia Redundant skin Dyslexia Villous atrophy Enuresis Coarctation of aorta Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Right ventricular hypertrophy Chronic constipation Hypoplasia of the zygomatic bone Blue irides Cardiomegaly Thyroid hypoplasia Vocal cord paralysis Hypsarrhythmia Down-sloping shoulders Multiple renal cysts Patellar dislocation Abnormality of the vasculature Cholelithiasis Pulmonary artery stenosis Dysphonia Renal hypoplasia Small nail Abnormal endocardium morphology Abnormality of refraction Tetralogy of Fallot Abnormal glucose tolerance Narrow forehead Dysgraphia Arterial stenosis Parathyroid hyperplasia Rectal prolapse Hypotelorism Periorbital edema Urethral stenosis Hypercalcemia Peptic ulcer Mitral valve prolapse Cystic renal dysplasia Renal agenesis Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Increased nuchal translucency Subvalvular aortic stenosis Peripheral pulmonary artery stenosis Thick lower lip vermilion Retinal vascular tortuosity Decreased plasma carnitine Hypoplasia of penis Periorbital fullness Abnormality of the voice Nevus flammeus Poor coordination Unilateral renal agenesis Glucose intolerance Hemivertebrae Nephrocalcinosis Polycystic ovaries Abnormality of dental enamel Abnormality of the fingernails Tracheoesophageal fistula Portal hypertension Hypoplastic toenails Abnormality of dental morphology Spina bifida occulta Cutis laxa Abnormal dermatoglyphics Pointed chin Progressive hearing impairment Obsessive-compulsive behavior Widely spaced teeth Chronic otitis media Bicuspid aortic valve Sacral dimple Infantile muscular hypotonia Nephritis Arnold-Chiari malformation Reduced bone mineral density Adducted thumb Abnormality of pelvic girdle bone morphology Precocious puberty Polyuria Soft skin Amblyopia Recurrent otitis media Incoordination Open mouth Arnold-Chiari type I malformation Posterior embryotoxon Abnormality of lipid metabolism Mitral regurgitation Megalocornea Insomnia Abnormal form of the vertebral bodies Recurrent urinary tract infections Nephrolithiasis Aplasia/Hypoplasia of the iris Open bite Facial cleft Prematurely aged appearance Aortic valve stenosis Hoarse voice High hypermetropia Celiac disease Narrow face Vertebral segmentation defect Premature graying of hair Increased bone mineral density Hallux valgus Increased body weight Radioulnar synostosis Failure to thrive in infancy Lewy bodies Renal duplication Proximal muscle weakness Facial palsy Hypoglycemia Babinski sign Focal T2 hypointense basal ganglia lesion Talipes cavus equinovarus Epilepsia partialis continua Increased intramyocellular lipid droplets Generalized tonic seizures Central hypotonia Axonal degeneration Brisk reflexes Gynecomastia Progressive cerebellar ataxia Muscular hypotonia of the trunk Pes cavus Pallor Intention tremor Hemiclonic seizures Focal clonic seizures Psychomotor retardation Obtundation status Edema Apraxia Tinnitus Transient unilateral blurring of vision Blurred vision Severe hearing impairment Episodic ataxia Borderline personality disorder Migraine without aura Personality disorder Abnormality of the eye Abnormality of eye movement Generalized tonic-clonic seizures with focal onset Amyloidosis Scintillating scotoma Nonarteritic anterior ischemic optic neuropathy Recurrent subcortical infarcts Abulia Subcortical dementia Focal sensory seizure Diffuse leukoencephalopathy Subcutaneous hemorrhage Mania Perseveration Pseudobulbar paralysis Varicose veins Optic neuropathy Impaired pain sensation Bulbar palsy Lower limb muscle weakness Peripheral demyelination Inability to walk Sensory neuropathy Tetraplegia Brain atrophy Urinary incontinence Abnormality of the skin Recurrent pneumonia Scotoma Atherosclerosis Shock Cranial nerve paralysis Leukoencephalopathy Abnormal electroretinogram Apathy Multifocal seizures Atonic seizures Colonic diverticula Abnormal social behavior Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Renovascular hypertension Early onset of sexual maturation Synostosis of joints Vascular tortuosity Abnormality of the ankles Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Nocturia Abnormality of the bladder Abnormality of the gastric mucosa Renal artery stenosis Coronary artery stenosis Hyperacusis Pelvic kidney Food intolerance Infantile hypercalcemia Overfriendliness Dyssynergia Focal impaired awareness seizure Esotropia Absence seizures Progressive microcephaly Postnatal microcephaly Cutaneous photosensitivity Epileptic encephalopathy Febrile seizures Focal-onset seizure Severe global developmental delay Hyperactivity Micrographia Short stepped shuffling gait Substantia nigra gliosis Weak voice Kinetic tremor Frontotemporal dementia Stellate iris Rigidity Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Telangiectasia Palmar telangiectasia Parkinsonism Orthostatic hypotension Hypotension Neuronal loss in central nervous system Abnormal autonomic nervous system physiology Alzheimer disease Urinary urgency Resting tremor Otitis media Morphological abnormality of the inner ear Dental malocclusion Bilateral sensorineural hearing impairment Macular degeneration Type I diabetes mellitus Generalized hirsutism Cardiac arrest Clonus Abnormality of retinal pigmentation Anorexia Left ventricular hypertrophy Decreased body weight Hypertrichosis Atrial fibrillation Pulmonary arterial hypertension Nephrotic syndrome Pigmentary retinopathy Reduced tendon reflexes Cerebral calcification Amenorrhea Specific learning disability Hip dysplasia Sensory impairment Muscle cramps Polyneuropathy Hirsutism Polymicrogyria Peripheral axonal neuropathy Ichthyosis Anal atresia Delayed puberty Congenital cataract External ophthalmoplegia Ragged-red muscle fibers Pruritus Aplasia/Hypoplasia of the cerebellum Progressive sensorineural hearing impairment Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Hyperkalemia Vestibular dysfunction Bundle branch block Adrenal insufficiency Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Bifid scrotum Intestinal obstruction Hypopigmented skin patches Ophthalmoparesis Hyponatremia Abnormality of mitochondrial metabolism Aortic aneurysm Bilateral ptosis Decreased nerve conduction velocity Cachexia Atrioventricular block Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Mutism Arthrogryposis multiplex congenita Dilated cardiomyopathy Basal ganglia calcification Combined immunodeficiency Thrombocytopenia Central retinal artery occlusion Retinal arterial occlusion Lupus anticoagulant Pure red cell aplasia Panniculitis Antiphospholipid antibody positivity Erythema nodosum Granulocytopenia Immune dysregulation Hypercoagulability Raynaud phenomenon Thrombocytosis Elevated erythrocyte sedimentation rate Agitation Metabolic acidosis Leukocytosis Cutis marmorata Vasculitis Foot dorsiflexor weakness Decreased antibody level in blood Lymphadenopathy Paraplegia Papule Skin rash Arthritis Elevated hepatic transaminase Hepatosplenomegaly Dilatation Splenomegaly Stage 5 chronic kidney disease Aciduria Nyctalopia Skeletal muscle atrophy Erythema Abnormality of the pinna Apnea Jaundice Dyspnea Weight loss Hypogonadism Rod-cone dystrophy Hyporeflexia Areflexia Arrhythmia Diarrhea Short neck Ventriculomegaly Hypertelorism Choreoathetosis Metabolic ketoacidosis Chronic metabolic acidosis Cerebellar hemorrhage Abnormal globus pallidus morphology Methylmalonic acidemia Hyperglycinemia Homocystinuria Methylmalonic aciduria Organic aciduria Delayed CNS myelination Ketonuria Macrocytic anemia Hyperammonemia Paraparesis Glomerulopathy Hyperthyroidism Vesicoureteral reflux Malar flattening High forehead Micropenis Glaucoma Recurrent respiratory infections Clinodactyly of the 5th finger Inguinal hernia Abnormal heart morphology Patent ductus arteriosus Pectus excavatum Obesity Hernia Absent speech Midface retrusion Long philtrum Kyphoscoliosis Short nose Atrial septal defect Ventricular septal defect Macrocephaly Intrauterine growth retardation Myopia Wide nasal bridge Epicanthus Depressed nasal bridge Flexion contracture Cryptorchidism Cleft palate Abnormal facial shape Micrognathia Macrotia Osteopenia Prominent ear helix Broad forehead Chest pain Full cheeks Macroglossia Broad nasal tip Hypodontia Everted lower lip vermilion Thick vermilion border Oral cleft Smooth philtrum Joint hyperflexibility Genu valgum Pulmonic stenosis Corneal opacity Small for gestational age Abnormal cardiac septum morphology Arthralgia Scarring Blepharophimosis Craniosynostosis Wide mouth Joint stiffness Paralysis Irritability Hyperlordosis Low-set, posteriorly rotated ears Cleft lip Joint laxity Pes planus Umbilical hernia Coarse facial features Scoliosis Morphological abnormality of the vestibule of the inner ear Rhabdomyolysis Delusions Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Anterior hypopituitarism Reduced consciousness/confusion Wolff-Parkinson-White syndrome Visual hallucinations Renal tubular dysfunction Aortic dissection Facial diplegia Cardiorespiratory arrest Posterior subcapsular cataract Hemianopia Progressive external ophthalmoplegia Mitochondrial myopathy Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Ileus Abnormality of the renal tubule Bilateral intracranial calcifications Hemeralopia Episodic quadriplegia Abnormality of acid-base homeostasis Homonymous hemianopia Abnormal cochlea morphology Paralytic ileus Abnormal mitochondrial shape Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Spotty hypopigmentation Abnormal macular morphology Crohn's disease Episodic vomiting Abnormality of the cerebellar vermis Psychotic episodes Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Gastroparesis Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Motor polyneuropathy Subdural hemorrhage



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Vomiting, related diseases and genetic alterations Tremor and Prominent forehead, related diseases and genetic alterations Hydrocephalus and High forehead, related diseases and genetic alterations Spasticity and Premature birth, related diseases and genetic alterations Nystagmus and Hematuria, related diseases and genetic alterations Anemia and Nephroblastoma, related diseases and genetic alterations

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