Cataract, and Ischemic stroke

Diseases related with Cataract and Ischemic stroke

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


Top matches:

Medium match HANAC SYNDROME


Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome is characterised by the association of hematuria (without proteinuria) with extrarenal manifestations: retinal arterial tortuosities responsible for retinal haemorrhages, cardiac arrhythmia, Raynaud phenomena and congenital muscular contractures.

HANAC SYNDROME Is also known as hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome|autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome

Related symptoms:

  • Seizures
  • Strabismus
  • Cataract
  • Flexion contracture
  • Visual impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HANAC SYNDROME

Medium match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

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Other less relevant matches:

Low 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

Low 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 MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1


Age-related macular degeneration (ARMD) is a progressive degeneration of photoreceptors and underlying retinal pigment epithelium (RPE) cells in the macula region of the retina. It is a highly prevalent disease and a major cause of blindness in the Western world. Drusen, pale excrescences of variable size, and other deposits accumulate below the RPE on the Bruch membrane; clinical and histopathologic investigations have shown that these extracellular deposits are the hallmark of early ARMD. As ARMD advances, areas of geographic atrophy of the RPE can cause visual loss, or choroidal neovascularization can occur to cause wet, or exudative, ARMD with accompanying central visual loss (summary by De et al., 2007). Genetic Heterogeneity of Age-Related Macular DegenerationARMD2 (OMIM ) is associated with mutation in the ABCR gene (OMIM ) on chromosome 1p, and ARMD3 (OMIM ) is caused by mutation in the FBLN5 gene (OMIM ) on chromosome 14q31. Up to 50% of the attributable risk of age-related macular degeneration (ARMD4 ) appears to be explained by a polymorphism in the CFH gene ({134370.0008}). ARMD5 (OMIM ) and ARMD6 (OMIM ) are associated with mutation in the ERCC6 (OMIM ) and RAX2 (OMIM ) genes, respectively. ARMD7 (OMIM ) and ARMD8 (OMIM ), which both represent susceptibility linked to chromosome 10q26, are associated with single-nucleotide polymorphisms in the HTRA1 (OMIM ) and ARMS2 (OMIM ) genes, respectively. ARMD9 (OMIM ) is associated with single-nucleotide polymorphisms in the C3 gene (OMIM ). ARMD10 (OMIM ) maps to chromosome 9q32 and may be associated with a polymorphism in the TLR4 gene (OMIM ). ARMD11 (OMIM ) is association with variation in the CST3 gene (OMIM ); ARMD12 (OMIM ) with variation in the CX3CR1 gene (OMIM ); and ARMD13 (OMIM ) with variation in the CFI gene (OMIM ). ARMD14 (OMIM ) is associated with variation in or near the C2 (OMIM ) and CFB (OMIM ) genes on chromosome 6p21. ARMD15 (OMIM ) is associated with variation in the C9 gene (OMIM ). There is evidence for a form of ARMD caused by mutation in the mitochondrial gene MTTL1 (OMIM ).A haplotype carrying deletion of the complement factor H-related genes CFHR1 (OMIM ) and CFHR3 (OMIM ) is also associated with reduced risk of ARMD.Lotery and Trump (2007) reviewed the molecular biology of age-related macular degeneration and tabulated the genes associated with ARMD, including those with only positive findings versus genes for which conflicting results have been found.

MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1 Is also known as maculopathy, age-related, 1

Related symptoms:

  • Cataract
  • Visual impairment
  • Hypertension
  • Blindness
  • Visual loss


SOURCES: MESH OMIM MENDELIAN

More info about MACULAR DEGENERATION, AGE-RELATED, 1; ARMD1

Low match CLASSIC HOMOCYSTINURIA


Classical homocystinuria due to cystathionine beta-synthase (CbS) deficiency is characterized by the multiple involvement of the eye, skeleton, central nervous system, and vascular system.

CLASSIC HOMOCYSTINURIA Is also known as cystathionine beta-synthase deficiency|homocystinuria due to cystathionine beta-synthase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Cataract
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC HOMOCYSTINURIA

Low match FAMILIAL AORTIC DISSECTION


Familial aortic dissection is the term used to describe rupture of the aortic wall at the level of the media, resulting in the formation of a false channel and deviation of part of the aortic flux. Familial predisposition to thoracic aortic aneurysms and type A dissections (concerning the ascending aorta and/or the aortic arch) has been demonstrated in around 19% of patients presenting with thoracic aortic dissections and several loci have been identified so far (16p12.2-p13.13, 3p24-25). This predisposition is transmitted in an autosomal dominant manner.

FAMILIAL AORTIC DISSECTION Is also known as aortic aneurysm, familial thoracic|annuloaortic ectasia|cystic medial necrosis of aorta|aortic dissection, familial|aneurysm, thoracic aortic|faa1

Related symptoms:

  • Cataract
  • Flexion contracture
  • Hypertension
  • Dilatation
  • Pectus excavatum


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL AORTIC DISSECTION

Low match MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME


Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism.

MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME Is also known as syndromic moyamoya disease|moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism|chromosome xq28 deletion syndrome, 3.4-kb

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET OMIM MENDELIAN

More info about MOYAMOYA ANGIOPATHY-SHORT STATURE-FACIAL DYSMORPHISM-HYPERGONADOTROPIC HYPOGONADISM SYNDROME

Low match INCONTINENTIA PIGMENTI


Incontinentia pigmenti (IP) is a rare X-linked dominant multi-systemic ectodermal dysplasia usually lethal in males and presenting neonatally in females with a bullous rash along Blashko's lines (BL) followed by verrucous plaques evolving over time to hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail dystrophy and affects occasionally the retina and the central nervous system (CNS).

INCONTINENTIA PIGMENTI Is also known as bloch-siemens syndrome|bloch-sulzberger syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about INCONTINENTIA PIGMENTI

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Stroke Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Congestive heart failure Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Cognitive impairment Short stature Visual impairment Renal insufficiency Abnormality of the cardiovascular system Strabismus Muscle cramps Dilatation Hemiplegia Elevated serum creatine phosphokinase Cerebral ischemia Transient ischemic attack Hemiparesis Cardiomyopathy Pain Optic atrophy Muscular hypotonia Hearing impairment Depressivity Pectus excavatum Stroke-like episode Behavioral abnormality Hypertrophic cardiomyopathy Constipation Malabsorption Anorexia Ventricular hypertrophy Sudden cardiac death Chest pain Retinal detachment Nausea and vomiting Tubulointerstitial nephritis Abdominal pain Hemiplegia/hemiparesis Corneal opacity Developmental regression Mitral valve prolapse Proteinuria Anxiety Hypothyroidism Ptosis Sensorineural hearing impairment Scoliosis Visual loss Osteoporosis Attention deficit hyperactivity disorder Retinal vascular tortuosity Posterior embryotoxon Kyphosis Cerebral hemorrhage Cerebral cortical atrophy Hematuria Spasticity Dysarthria Nephropathy Arrhythmia Gait disturbance Hypertonia Anemia Headache Cerebellar atrophy Flexion contracture Cerebellar hypoplasia

Rare Symptoms - Less than 30% cases


Diabetes mellitus Renal tubular dysfunction Easy fatigability Hypogonadism Reduced bone mineral density Autism Progressive hearing impairment Abnormality of lipid metabolism Large earlobe Peripheral arterial stenosis Coarctation of aorta Scarring Cardiomegaly Delayed skeletal maturation Xerostomia Atrioventricular block Aortic root aneurysm Genu valgum Abnormality of immune system physiology Hypodontia Emphysema Loss of consciousness Pulmonary embolism Oral cleft Personality changes Aortic aneurysm Polyuria Bundle branch block Coronary artery atherosclerosis Chronic kidney disease Progressive sensorineural hearing impairment Celiac disease Telangiectasia of the skin Glomerulopathy Feeding difficulties Periorbital fullness Feeding difficulties in infancy Hyperreflexia Vascular tortuosity Pulmonary arterial hypertension Type II diabetes mellitus Bicuspid aortic valve Coronary artery stenosis Tremor Postural instability Dysmetria Carious teeth Premature graying of hair Abnormality of dental morphology Microcephaly Ataxia Growth delay Hypertelorism Dilated cardiomyopathy Failure to thrive Neurological speech impairment Hepatomegaly Psychosis Purpura Hypercalciuria Myopathy Protruding ear Schizophrenia Hypopigmented skin patches Amblyopia Aortic valve stenosis Macular degeneration Hypogonadotrophic hypogonadism Abnormality of the renal tubule Abnormality of the dentition Dysesthesia Involuntary movements Blindness Respiratory distress Abnormality of dental enamel Abnormal endocardium morphology Abnormality of the fingernails Erythema Spina bifida occulta Abnormality of retinal pigmentation Gingival overgrowth Aortic regurgitation Gastroesophageal reflux Dysphasia Exercise intolerance Dystonia Myalgia Respiratory insufficiency Nausea Patent ductus arteriosus Vomiting Polymicrogyria Diarrhea Vertigo Paresthesia Delayed puberty Myopia Pruritus Intracranial hemorrhage Ventriculomegaly Midface retrusion Abnormal hand morphology Visual field defect Hyperhidrosis Long philtrum Skin rash Abnormality of the kidney Hyperkeratosis Glaucoma Restlessness Dyspnea Arthralgia Coarse facial features Fatigue Umbilical hernia Fever Aortic dissection Dilatation of the cerebral artery Hernia Left ventricular hypertrophy Leukoencephalopathy Multiple renal cysts Joint stiffness Thick vermilion border Mitral regurgitation Tubulointerstitial abnormality Peripheral neuropathy Supraventricular arrhythmia Myocardial infarction Renal cyst Atrial fibrillation Retinal hemorrhage Thick lower lip vermilion Hemianopia Nephrotic syndrome Gait imbalance Abnormal facial shape Perivascular spaces Left ventricular failure Retinal arteriolar tortuosity Hypoplasia of the iris Portal hypertension Precocious puberty Polycystic ovaries Radioulnar synostosis Abnormality of pelvic girdle bone morphology Incoordination Failure to thrive in infancy Hypercalcemia Redundant skin Cholelithiasis Dysphonia Abnormality of the voice Wide mouth Nephritis Epicanthus Megalocornea Insomnia Facial cleft Prematurely aged appearance High hypermetropia Generalized hypotonia Vertebral segmentation defect Micrognathia Cleft palate Cryptorchidism Hallux valgus Delayed speech and language development Depressed nasal bridge Wide nasal bridge Chronic otitis media Intrauterine growth retardation Macrocephaly Arnold-Chiari malformation Ventricular septal defect Atrial septal defect Open bite Glucose intolerance Tracheoesophageal fistula Hypoplastic toenails Intellectual disability, mild Unilateral renal agenesis Short nose Obsessive-compulsive behavior Adducted thumb Pointed chin Infantile muscular hypotonia Cleft lip Macrotia Renal agenesis Otitis media Kyphoscoliosis Esotropia Dental malocclusion Osteopenia Vesicoureteral reflux Pes planus Full cheeks Macroglossia Broad nasal tip Joint laxity Sleep disturbance Dehydration Everted lower lip vermilion Intellectual disability, moderate Smooth philtrum Joint hyperflexibility Pulmonic stenosis Low-set, posteriorly rotated ears Hyperlordosis Small for gestational age Broad forehead Irritability Autistic behavior Paralysis Blepharophimosis Craniosynostosis Microdontia Tetralogy of Fallot Sacral dimple Inguinal hernia Malar flattening Absent speech Widely spaced teeth Obesity Abnormal dermatoglyphics Cutis laxa Nephrocalcinosis Hemivertebrae Increased body weight Abnormal heart morphology Increased bone mineral density Narrow face Hoarse voice Nephrolithiasis Narrow forehead Recurrent urinary tract infections Abnormal form of the vertebral bodies Open mouth Recurrent otitis media Clinodactyly of the 5th finger Recurrent respiratory infections Small nail Renal hypoplasia Hypsarrhythmia Micropenis Abnormality of extrapyramidal motor function Hypoplasia of penis Hypotelorism High forehead Abnormal cardiac septum morphology Abnormality of the gastric mucosa Arnold-Chiari type I malformation Cystic medial necrosis Atherosclerosis Cutis marmorata Hypoplastic left heart Exertional dyspnea Thoracic aortic aneurysm Abdominal aortic aneurysm Ascending aortic dissection Carotid artery dilatation Abnormality of amino acid metabolism Descending thoracic aorta aneurysm Descending aortic dissection Paroxysmal dyspnea Cystic medial necrosis of the aorta Iris flocculi Low-set ears Retrognathia Deeply set eye Coloboma Subcutaneous hemorrhage Small hand Recurrent fractures Polypoidal choroidal vasculopathy Foveal hypopigmentation Macular hemorrhage High palate Elevated hepatic transaminase Pectus carinatum Arachnodactyly Gastrointestinal hemorrhage Arterial thrombosis Sparse scalp hair Dental crowding Venous thrombosis Urticaria Ectopia lentis Disproportionate tall stature Arteriovenous malformation Esophageal varix Wide nose Growth hormone deficiency Geographic atrophy Dystrophic toenail Encephalitis Keratitis Supernumerary nipple Irregular hyperpigmentation Uveitis Hearing abnormality Abnormal toenail morphology Hypoplastic fingernail Osteolysis Verrucae Deviation of finger Supernumerary ribs Asymmetric growth Absent hand Abnormal chorioretinal morphology Ridged fingernail Broad nail Eosinophilia Abnormality of the nail Decreased testicular size Moyamoya phenomenon Short phalanx of finger Hypergonadotropic hypogonadism Azoospermia Abnormal left ventricle morphology Congenital ptosis Broad finger Abnormality of the nares Microphthalmia Abnormality of the hair Alopecia Camptodactyly of finger Finger syndactyly Abnormality of skin pigmentation Delayed eruption of teeth Abnormal blistering of the skin Blue sclerae Skin ulcer Macular drusen Choroidal neovascularization Nevus flammeus Dysgraphia Lacrimation abnormality Bladder diverticulum Cystic renal dysplasia Peptic ulcer Periorbital edema Rectal prolapse Arterial stenosis Abnormality of nervous system morphology Subvalvular aortic stenosis Phonophobia Parathyroid hyperplasia Urethral stenosis Abnormal glucose tolerance Increased nuchal translucency Thyroid hypoplasia Aplasia/Hypoplasia of the iris Renal duplication Abnormal renal morphology Peripheral pulmonary artery stenosis Abnormality of the ankles Blue irides Soft skin Poor coordination Pulmonary artery stenosis Abnormality of the vasculature Patellar dislocation Down-sloping shoulders Vocal cord paralysis Hypoplasia of the zygomatic bone Decreased plasma carnitine Chronic constipation Right ventricular hypertrophy Abnormality of the neck Abnormality of the cerebral vasculature Enuresis Villous atrophy Dyslexia Abnormality of refraction Colonic diverticula Overriding aorta Drusen Dyssynergia Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Nystagmus-induced head nodding Overfriendliness Early onset of sexual maturation Stellate iris Abnormal carotid artery morphology Functional abnormality of male internal genitalia Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Reduced visual acuity Hypopigmentation of the skin Progressive visual loss Gout Abnormality of the diencephalon Paroxysmal bursts of laughter Aortic arch aneurysm Food intolerance Obsessive-compulsive trait Nocturia Synostosis of joints Abnormality of the bladder Renal artery stenosis Hyperacusis Pelvic kidney Infantile hypercalcemia Myxomatous mitral valve degeneration Morphological abnormality of the inner ear Renovascular hypertension Abnormal social behavior Flat cornea Supravalvular aortic stenosis Impaired visuospatial constructive cognition Calcification of the aorta Unilateral renal hypoplasia Prominent ear helix Decreased nerve conduction velocity Morphological abnormality of the vestibule of the inner ear Miosis High-frequency hearing impairment Asymmetric septal hypertrophy Abnormal mitral valve morphology Gastrointestinal dysmotility Abnormal aortic valve morphology T-wave inversion Abnormal renal physiology Restrictive cardiomyopathy Chronic pain Tubulointerstitial fibrosis Abnormal thrombosis Abnormal cornea morphology Conjunctival telangiectasia Microalbuminuria Primary hypothyroidism Abnormal myocardium morphology Abnormality of the nose Abnormality of cardiovascular system physiology Heat intolerance Edema of the lower limbs Elevated serum creatinine Tubular atrophy Abnormality of the gastrointestinal tract Oligospermia Supraventricular tachycardia Reduced ejection fraction Abnormality of femur morphology Clubbing of fingers Angina pectoris Chronic obstructive pulmonary disease Achalasia Sinus bradycardia Myocardial fibrosis Chronic fatigue Biventricular hypertrophy Decreased female libido Wheezing Tortuosity of conjunctival vessels ST segment depression Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Left ventricular septal hypertrophy Mucosal telangiectasiae Tenesmus Heavy proteinuria Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Unexplained fevers Concentric hypertrophic cardiomyopathy Vascular skin abnormality Increased blood urea nitrogen Corneal crystals Limb pain Abnormality of temperature regulation Nephrogenic diabetes insipidus Decreased glomerular filtration rate Distal renal tubular acidosis Reduced sperm motility Shortened PR interval Angiokeratoma Obstructive lung disease Impaired temperature sensation Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Abnormal EKG Renal tubular acidosis Abnormal glomerular filtration rate Posteriorly rotated ears Primitive reflex Pontocerebellar atrophy Schizencephaly Spastic hemiparesis Antenatal intracerebral hemorrhage Edema Mandibular prognathia Nuclear cataract Carcinoma Arthritis Abnormality of the nervous system Cough Prominent nasal bridge Papule Abnormality of the cerebral white matter Porencephalic cyst Facial paralysis Tachycardia Babinski sign Microscopic hematuria Raynaud phenomenon Arterial tortuosity Macroscopic hematuria Retinal arterial tortuosity Hydrocephalus Abnormal pyramidal sign Limb dystonia Hemolytic anemia Tetraparesis Exotropia Cerebral palsy Drooling Cortical dysplasia Opisthotonus Stage 5 chronic kidney disease Bulbous nose Glycosuria Impaired vibratory sensation Prominent supraorbital ridges Abnormality of the hand Glomerulosclerosis Polydipsia Heart murmur Clubbing Tricuspid regurgitation Ventricular arrhythmia Diabetes insipidus Anhidrosis Impotence Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Orthostatic hypotension Abnormal heart valve morphology Tinnitus Corneal dystrophy Thick eyebrow Hypohidrosis Abdominal distention Syncope Urinary incontinence Hypotension Palpitations Abnormal lung morphology Subcutaneous nodule Lymphedema Abnormal intestine morphology Bradycardia Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Aminoaciduria Hyperlipidemia Ventricular tachycardia Abnormality of the common coagulation pathway Cornea verticillata Bilateral intracranial calcifications Progressive external ophthalmoplegia Abnormality of visual evoked potentials Neonatal hypoglycemia Vitiligo Heart block Hypoparathyroidism Mitochondrial myopathy Posterior subcapsular cataract Atopic dermatitis Delusions Cardiorespiratory arrest Facial diplegia Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Reduced consciousness/confusion Hashimoto thyroiditis Drowsiness Seborrheic dermatitis Hyperkalemia Focal segmental glomerulosclerosis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Aphasia Vestibular dysfunction Prolonged QT interval Distal arthrogryposis Multiple lipomas Vertebral fusion Basal ganglia calcification Hyperthyroidism Rhabdomyolysis Thyroiditis Primary adrenal insufficiency Anterior hypopituitarism Speech apraxia Bifid scrotum Cochlear malformation Hemeralopia Abnormal macular morphology Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Progressive night blindness Abnormality of the cerebellar vermis Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Crohn's disease Psychotic episodes Retinal pigment epithelial atrophy Muscle fiber atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Episodic vomiting Motor polyneuropathy Psychomotor deterioration Writer's cramp Renal Fanconi syndrome Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Gastroparesis Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Mask-like facies Aplasia/Hypoplasia of the cerebellum Nystagmus Arthrogryposis multiplex congenita Mental deterioration Abnormality of the pinna Abnormality of the liver Nyctalopia Generalized tonic-clonic seizures Lethargy Ophthalmoplegia EEG abnormality Congenital cataract Anal atresia Confusion Ichthyosis Peripheral axonal neuropathy Lactic acidosis Hirsutism Apnea Photophobia Coma Encephalopathy Muscle weakness Motor delay Skeletal muscle atrophy Dysphagia Short neck Cerebral atrophy Areflexia Jaundice Hyporeflexia Rod-cone dystrophy Dementia Myoclonus Gait ataxia Weight loss Acidosis Polyneuropathy Abnormal cerebellum morphology Intestinal obstruction Mutism Generalized hirsutism Type I diabetes mellitus Pancreatitis External ophthalmoplegia Reduced tendon reflexes Ragged-red muscle fibers Goiter Truncal ataxia Hyperkinesis Growth abnormality Cachexia Bilateral ptosis Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis EMG abnormality Cardiac arrest Generalized myoclonic seizures Cerebral calcification Sensory impairment Migraine Increased serum lactate Memory impairment Hip dysplasia Specific learning disability Amenorrhea Pigmentary retinopathy Clonus Generalized-onset seizure Bilateral sensorineural hearing impairment Status epilepticus Hypertrichosis Decreased body weight Hallucinations Cerebral visual impairment Retinal vascular proliferation



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