Cataract, and Sudden cardiac death

Diseases related with Cataract and Sudden cardiac death

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


Top matches:

Medium match CARDIOMYOPATHY, DILATED, 1II; CMD1II


Related symptoms:

  • Cataract
  • Cardiomyopathy
  • Congestive heart failure
  • Elevated serum creatine phosphokinase
  • Dilated cardiomyopathy


SOURCES: OMIM MENDELIAN

More info about CARDIOMYOPATHY, DILATED, 1II; CMD1II

Medium match HARLEQUIN ICHTHYOSIS


Harlequin ichthyosis (HI) is the most severe variant of autosomal recessive congenital ichthyosis (ARCI; see this term). It is characterized at birth by the presence of large, thick, plate-like scales over the whole body associated with severe ectropion, eclabium, and flattened ears, that later develops into a severe scaling erythroderma.

HARLEQUIN ICHTHYOSIS Is also known as ichthyosis congenita, harlequin type|'harlequin fetus'|ichthyosis congenita, harlequin fetus type|harlequin ichthyosis|ichthyosis fetalis, harlequin type|hi

Related symptoms:

  • Global developmental delay
  • Cataract
  • Respiratory insufficiency
  • Recurrent respiratory infections
  • Respiratory failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HARLEQUIN ICHTHYOSIS

Medium match MYOPATHY, MYOFIBRILLAR, 1; MFM1


Myofibrillar myopathy (MFM) is a noncommittal term that refers to a group of morphologically homogeneous, but genetically heterogeneous chronic neuromuscular disorders. The morphologic changes in skeletal muscle in MFM result from disintegration of the sarcomeric Z disc and the myofibrils, followed by abnormal ectopic accumulation of multiple proteins involved in the structure of the Z disc, including desmin, alpha-B-crystallin (CRYAB ), dystrophin (OMIM ), and myotilin (TTID ). Genetic Heterogeneity of Myofibrillar MyopathyOther forms of MFM include MFM2 (OMIM ), caused by mutation in the CRYAB gene (OMIM ); MFM3 (OMIM ) (OMIM ), caused by mutation in the MYOT gene (OMIM ); MFM4 (OMIM ), caused by mutation in the ZASP gene (LDB3 ); MFM5 (OMIM ), caused by mutation in the FLNC gene (OMIM ); MFM6 (OMIM ), caused by mutation in the BAG3 gene (OMIM ); MFM7 (OMIM ), caused by mutation in the KY gene (OMIM ); and MFM8 (OMIM ), caused by mutation in the PYROXD1 gene (OMIM ).'Desmin-related myopathy' is another term referring to MFM in which there are intrasarcoplasmic aggregates of desmin, usually in addition to other sarcomeric proteins. Rigid spine syndrome (OMIM ), caused by mutation in the SEPN1 gene (OMIM ), is another desmin-related myopathy. Goebel (1995) provided a review of desmin-related myopathy.

MYOPATHY, MYOFIBRILLAR, 1; MFM1 Is also known as drm|cardiomyopathy, dilated, with conduction defect and muscular dystrophy|cardiomyopathy, dilated, 1f and limb-girdle muscular dystrophy type 1d, formerly|myopathy, myofibrillar, desmin-related|lgmd2r, formerly|desminopathy, primary|arvd7, formerly|cmd1f

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Pain
  • Cataract
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOPATHY, MYOFIBRILLAR, 1; MFM1

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Other less relevant matches:

Medium match MYOTONIC DYSTROPHY 2; DM2


Myotonic dystrophy (DM) is a multisystem disorder and the most common form of muscular dystrophy in adults. Individuals with DM2 have muscle pain and stiffness, progressive muscle weakness, myotonia, male hypogonadism, cardiac arrhythmias, diabetes, and early cataracts. Other features may include cognitive dysfunction, hypersomnia, tremor, and hearing loss (summary by Heatwole et al., 2011).See also myotonic dystrophy-1 (DM1 ), caused by an expanded CTG repeat in the dystrophia myotonica protein kinase gene (DMPK ) on 19q13.Although originally reported as 2 disorders, myotonic dystrophy-2 and proximal myotonic myopathy are now referred to collectively as DM2 (Udd et al., 2003).

MYOTONIC DYSTROPHY 2; DM2 Is also known as promm|proximal myotonic myopathy|dystrophia myotonica 2|myotonic myopathy, proximal|ricker syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Muscle weakness
  • Pain
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 2; DM2

Medium match SARCOIDOSIS


Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs.

SARCOIDOSIS Is also known as boeck sarcoid|besnier-boeck-schaumann disease|sarcoidosis|boeck's sarcoid

Related symptoms:

  • Seizures
  • Pain
  • Cataract
  • Anemia
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about SARCOIDOSIS

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

Low match PROTEUS SYNDROME


Proteus syndrome (PS) is a very rare and complex hamartomatous overgrowth disorder characterized by progressive overgrowth of the skeleton, skin, adipose, and central nervous systems.

PROTEUS SYNDROME Is also known as partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome|gigantism, partial, of hands and feet, nevi, hemihypertrophy, and macrocephaly

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Nystagmus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PROTEUS SYNDROME

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 MYOTONIC DYSTROPHY 1; DM1


Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

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

Symptoms // Phenotype % cases
Pain Common - Between 50% and 80% cases
Congestive heart failure Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ptosis Cognitive impairment Respiratory distress Myopathy Cardiomyopathy Constipation Myalgia Ventricular tachycardia Tachycardia Elevated serum creatine phosphokinase Intellectual disability Atrioventricular block Muscle weakness Hypothyroidism Stroke Palpitations Renal insufficiency Atrial fibrillation Dyspnea Ventricular hypertrophy Hypertrophic cardiomyopathy Chest pain Headache Heart block Hearing impairment Hypertension Abdominal pain Fever Respiratory insufficiency Tubulointerstitial nephritis Dilated cardiomyopathy Skeletal muscle atrophy Spontaneous abortion Confusion Mental deterioration Syncope Myocardial infarction Diabetes mellitus Hypogonadism Dysphagia Tremor Lower limb muscle weakness Progressive muscle weakness Edema Abnormality of the cardiovascular system Mitral valve prolapse Anemia Visual impairment Bundle branch block Fatigue Ischemic stroke Glaucoma Kyphosis Carious teeth Vertigo Paresthesia Respiratory failure Proteinuria Developmental regression Muscular hypotonia Hypercalciuria Optic atrophy Arthritis Sensorineural hearing impairment Short stature Malabsorption Hyperkeratosis Nausea and vomiting Depressivity Feeding difficulties in infancy Global developmental delay Scoliosis Muscular dystrophy Anxiety Subcutaneous nodule Joint stiffness Proximal muscle weakness Diabetes insipidus Dilatation Diarrhea Gait disturbance Mitral regurgitation Delayed speech and language development Anorexia Cerebral cortical atrophy

Rare Symptoms - Less than 30% cases


Behavioral abnormality Progressive sensorineural hearing impairment Vomiting Loss of consciousness Nephropathy Celiac disease Cholelithiasis Glomerulopathy Abnormality of lipid metabolism Abnormal EKG Xerostomia Transient ischemic attack Polyuria Chronic kidney disease Midface retrusion Exercise intolerance Large earlobe Muscle cramps Thick vermilion border Nausea Abdominal distention Nephrotic syndrome Delayed puberty Thick lower lip vermilion Left ventricular hypertrophy Purpura Arthralgia Progressive hearing impairment Pruritus Corneal opacity Reduced bone mineral density Easy fatigability Abnormality of the kidney Hemiplegia Carcinoma Coarse facial features Personality changes Renal tubular dysfunction Visual loss Periorbital fullness Motor delay Pulmonary embolism Abnormality of the neck Schizophrenia Hypogonadotrophic hypogonadism Cardiac arrest Gingival overgrowth Involuntary movements Hemiparesis Type II diabetes mellitus Microcephaly Ataxia Growth delay Failure to thrive Feeding difficulties Hyperreflexia Hallux valgus Dysarthria Postural instability Abnormality of the dentition Hypertonia Cerebral atrophy Dysmetria Delayed skeletal maturation Cerebellar hypoplasia Dementia Osteoporosis Autism Gastroesophageal reflux Neurological speech impairment Attention deficit hyperactivity disorder Multiple lipomas Cachexia Abnormality of the renal tubule Myopia Dysesthesia Abnormal endocardium morphology Vascular skin abnormality Retinal vascular tortuosity Generalized hypotonia Nephrogenic diabetes insipidus Vascular tortuosity Coronary artery stenosis Tubulointerstitial abnormality Hypertelorism Nystagmus Strabismus Abnormal facial shape Depressed nasal bridge Macrocephaly Growth abnormality Facial diplegia Goiter Abnormality of dental enamel Generalized hirsutism Abnormality of retinal pigmentation Abnormal form of the vertebral bodies Open mouth Cerebral ischemia Clinodactyly of the 5th finger Polymicrogyria Gait imbalance Craniosynostosis Intellectual disability, moderate Kyphoscoliosis Macrotia Abnormality of the gastrointestinal tract Lymphedema Protruding ear Nephrolithiasis Scarring Cough Papule Limb muscle weakness Distal muscle weakness Abnormal lung morphology Nephrocalcinosis Weight loss Facial palsy Hypercalcemia Portal hypertension Flexion contracture Emphysema Elevated erythrocyte sedimentation rate Erythema Splenomegaly Hyperthyroidism Atrial flutter Decreased antibody level in blood Myotonia Myofibrillar myopathy Epiphora Restrictive cardiomyopathy Neurofibrillary tangles Centrally nucleated skeletal muscle fibers Blindness Oligospermia Increased variability in muscle fiber diameter Tricuspid regurgitation Obsessive-compulsive trait Frontal balding Hepatomegaly Interstitial pulmonary abnormality Photophobia Ichthyosis Proptosis Reduced ejection fraction Small for gestational age Everted lower lip vermilion Thickened skin Dehydration Recurrent respiratory infections Premature birth Cardiorespiratory arrest Delusions Nystagmus-induced head nodding Thyroid hemiagenesis Unsteady gait Bilateral vocal cord paralysis Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Elfin facies Medial flaring of the eyebrow Reduced consciousness/confusion Abnormality of the diencephalon Aortic dissection Mitochondrial myopathy Posterior subcapsular cataract Hashimoto thyroiditis Primary adrenal insufficiency Distal arthrogryposis Narcolepsy Drowsiness Atopic dermatitis Functional abnormality of male internal genitalia Stellate iris Dyssynergia Progressive external ophthalmoplegia Early onset of sexual maturation Abnormality of visual evoked potentials Neonatal hypoglycemia Congenital cataract Vitiligo Overfriendliness Hypoparathyroidism Ophthalmoplegia Anterior hypopituitarism Seborrheic dermatitis Abnormal carotid artery morphology Leber optic atrophy Abnormal social behavior Psychomotor deterioration Renovascular hypertension Abnormality of the gastric mucosa Muscle fiber atrophy Writer's cramp Persistence of primary teeth Spontaneous hematomas Motor polyneuropathy Gastroparesis Amaurosis fugax Auditory hallucinations Abnormal nerve conduction velocity Renal Fanconi syndrome Infantile hypercalcemia Psychotic episodes Flat cornea Supravalvular aortic stenosis Stroke-like episode Percussion myotonia Descending aorta hypoplasia Left ventricular failure Paroxysmal bursts of laughter Speech apraxia Myxomatous mitral valve degeneration Unilateral renal hypoplasia Arthrogryposis multiplex congenita Lethargy Impaired visuospatial constructive cognition Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Generalized tonic-clonic seizures Hemianopia Episodic vomiting Calcification of the aorta Abnormality of immune system physiology Rhabdomyolysis Thyroiditis Cerebral visual impairment Polyhydramnios Hydrops fetalis Decreased body weight Insulin resistance Hallucinations Intellectual disability, progressive Alzheimer disease Clonus Neonatal hypotonia Intellectual disability, severe Truncal ataxia EMG abnormality Thin ribs Nonimmune hydrops fetalis Type I diabetes mellitus Macular degeneration Hypertrichosis Psychosis External ophthalmoplegia Amenorrhea Generalized myoclonic seizures Sensory impairment Migraine Increased serum lactate Memory impairment Hip dysplasia Specific learning disability Cerebral calcification Status epilepticus Pigmentary retinopathy Generalized-onset seizure Sensory neuropathy Bilateral sensorineural hearing impairment Brain atrophy Decreased fetal movement Talipes Pulmonary arterial hypertension Pancreatitis Reduced tendon reflexes Abnormal cerebellum morphology Dysphasia Focal segmental glomerulosclerosis Crohn's disease Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Aphasia Vestibular dysfunction Atrophy/Degeneration involving the corticospinal tracts Mask-like facies Excessive daytime sleepiness Hyperkalemia Visual field defect Anal atresia Prolonged QT interval Vertebral fusion Vocal cord dysfunction Basal ganglia calcification Hemiplegia/hemiparesis Peripheral axonal neuropathy Ragged-red muscle fibers Bilateral ptosis Coma Hypopigmented skin patches Polyneuropathy Mutism Testicular atrophy Hyperkinesis Decreased nerve conduction velocity Aortic aneurysm Bifid scrotum Hirsutism First degree atrioventricular block Abnormality of mitochondrial metabolism Hyponatremia Ophthalmoparesis Intestinal obstruction Aplasia/Hypoplasia of the cerebellum Lactic acidosis Abnormality of the cerebellar vermis Chronic constipation Hemeralopia Abnormal renal morphology Periorbital edema Peptic ulcer Abnormality of the fingernails Cystic renal dysplasia Spina bifida occulta Cutis laxa Bladder diverticulum Lacrimation abnormality Subvalvular aortic stenosis Rectal prolapse Abnormal dermatoglyphics Peripheral pulmonary artery stenosis Widely spaced teeth Bicuspid aortic valve Decreased plasma carnitine Abnormality of refraction Dyslexia Villous atrophy Hemivertebrae Arterial stenosis Infantile muscular hypotonia Abnormal glucose tolerance Cardiomegaly Hypsarrhythmia Renal hypoplasia Small nail Recurrent otitis media Recurrent urinary tract infections Nyctalopia Amblyopia Urethral stenosis Pointed chin Parathyroid hyperplasia Aortic valve stenosis Hoarse voice Phonophobia Abnormality of nervous system morphology Narrow face Increased bone mineral density Increased body weight Dysgraphia Sacral dimple Arnold-Chiari malformation Abnormality of extrapyramidal motor function Poor coordination Facial cleft Restlessness Insomnia Megalocornea Posterior embryotoxon Arnold-Chiari type I malformation Nevus flammeus Soft skin Pulmonary artery stenosis High hypermetropia Abnormality of the vasculature Patellar dislocation Multiple renal cysts Down-sloping shoulders Vocal cord paralysis Abnormality of the cerebral vasculature Right ventricular hypertrophy Blue irides Prematurely aged appearance Vertebral segmentation defect Adducted thumb Precocious puberty Abnormality of pelvic girdle bone morphology Incoordination Polycystic ovaries Dysphonia Enuresis Redundant skin Failure to thrive in infancy Radioulnar synostosis Abnormality of the voice Premature graying of hair Nephritis Chronic otitis media Obsessive-compulsive behavior Unilateral renal agenesis Abnormality of dental morphology Hypoplastic toenails Tracheoesophageal fistula Glucose intolerance Open bite Coarctation of aorta Increased nuchal translucency Abnormal macular morphology Renal artery stenosis Cryptorchidism Spasticity Epicanthus Wide nasal bridge Intrauterine growth retardation Ventricular septal defect Atrial septal defect Intellectual disability, mild Short nose Cleft palate Long philtrum Malar flattening Absent speech Hernia Obesity Pectus excavatum Patent ductus arteriosus Abnormal heart morphology Retinal arteriolar tortuosity Micrognathia Micropenis Abnormal mitochondrial shape Spotty hypopigmentation Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Food intolerance Progressive night blindness Cochlear degeneration Paralytic ileus Hyperacusis Abnormal cochlea morphology Hypoplasia of the zygomatic bone 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 Pelvic kidney Prominent ear helix Inguinal hernia High forehead Hypoplasia of penis Vesicoureteral reflux Sleep disturbance Abnormality of the ankles Hypodontia Broad nasal tip Colonic diverticula Macroglossia Full cheeks Renal duplication Aplasia/Hypoplasia of the iris Smooth philtrum Dental malocclusion Esotropia Otitis media Renal agenesis Microdontia Tetralogy of Fallot Narrow forehead Thyroid hypoplasia Hypotelorism Oral cleft Joint hyperflexibility Osteopenia Paralysis Umbilical hernia Pes planus Joint laxity Cleft lip Low-set, posteriorly rotated ears Hyperlordosis Irritability Autistic behavior Wide mouth Genu valgum Blepharophimosis Abnormality of the bladder Abnormal cardiac septum morphology Broad forehead Pulmonic stenosis Synostosis of joints Nocturia Aortic arch aneurysm Overriding aorta Homonymous hemianopia Palmoplantar hyperkeratosis Abnormality of the liver Parotitis Vitritis Abnormal reproductive system morphology Abnormality of skin morphology Posterior vitreous detachment Enlargement of parotid gland Abnormality of T cell physiology Non-caseating epithelioid cell granulomatosis Abnormal liver parenchyma morphology Abnormal cardiac ventricular function Abnormal conjunctiva morphology Increased T cell count Abnormality of the nasal mucosa Maculopapular exanthema Enlarged lacrimal glands Vitreous snowballs Pulmonary granulomatosis Abnormal trabecular meshwork morphology Posteriorly rotated ears Vitreous floaters Iridocyclitis Mandibular prognathia Chylothorax Immune dysregulation Bone cyst Skin nodule Night sweats Anterior synechiae of the anterior chamber Pneumothorax Abnormality of the pleura Vitreous hemorrhage Cystoid macular edema Abnormal salivary gland morphology Abnormality of the cerebrospinal fluid Erythema nodosum Generalized lymphadenopathy Skin plaque Abnormality of the lymph nodes Abnormality of the adrenal glands Chorioretinitis Dacryocystitis Anterior uveitis Hyperhidrosis Abnormality of the nervous system Upper airway obstruction Abnormal heart valve morphology Heart murmur Clubbing Impaired vibratory sensation Anhidrosis Impotence Coronary artery atherosclerosis Orthostatic hypotension Telangiectasia of the skin Glycosuria Glomerulosclerosis Renal tubular acidosis Wheezing Aortic root aneurysm Edema of the lower limbs Elevated serum creatinine Tubular atrophy Supraventricular tachycardia Heat intolerance Polydipsia Abnormality of the hand Skin rash Hypohidrosis Prominent nasal bridge Abnormality of the cerebral white matter Stage 5 chronic kidney disease Bulbous nose Thick eyebrow Hematuria Urinary incontinence Hypotension Bradycardia Prominent supraorbital ridges Fasciculations Abnormal autonomic nervous system physiology Aminoaciduria Hyperlipidemia Aortic regurgitation Abnormal intestine morphology Corneal dystrophy Ventricular arrhythmia Tinnitus Macular edema Hypothermia Clubbing of fingers Bulbar palsy Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Limb-girdle muscular dystrophy Akinesia Right bundle branch block Mildly elevated creatine phosphokinase Difficulty climbing stairs Hypokinesia Spinal rigidity Elbow flexion contracture Rimmed vacuoles Neck muscle weakness Progressive proximal muscle weakness Ventricular extrasystoles Skeletal myopathy Hyporeflexia of lower limbs Right ventricular cardiomyopathy Intestinal pseudo-obstruction Scapular winging Muscle stiffness Third degree atrioventricular block Erythroderma Rigidity Sepsis Limitation of joint mobility Depressed nasal ridge Recurrent skin infections Hand polydactyly Ectropion Self-injurious behavior Short finger Generalized muscle weakness Congenital ichthyosiform erythroderma Foot polydactyly Malignant hyperthermia Hearing abnormality Lack of skin elasticity Congenital nonbullous ichthyosiform erythroderma Hypergranulosis Eclabion Pneumonia Sick sinus syndrome Late-onset proximal muscle weakness Increased CSF protein Blurred vision Hyperpigmentation of the skin Decreased liver function Osteolysis Leukopenia Eosinophilia Pleural effusion Inflammation of the large intestine Pulmonary fibrosis Increased antibody level in blood Pancytopenia Chorioretinal atrophy Abnormality of the musculature Hyperuricemia Keratoconjunctivitis sicca Hemoptysis Optic neuropathy Uveitis Joint swelling Bronchiectasis Hypopigmentation of the skin Pica Neck flexor weakness Restrictive heart failure Infertility Hypercholesterolemia Leukoencephalopathy IgG deficiency Male hypogonadism Elevated circulating follicle stimulating hormone level IgM deficiency Arteriosclerosis Hemolytic anemia Hypersomnia Type 2 muscle fiber atrophy Diffuse leukoencephalopathy Insulin insensitivity Iridescent posterior subcapsular cataract Thrombocytopenia Alopecia Lymphadenopathy Hepatic failure Peripheral arterial stenosis Angina pectoris Abnormality of the pinna Lower limb asymmetry Spinal cord compression Abnormality of finger Abnormality of the wrist Macroorchidism Meningioma Deep venous thrombosis Varicose veins Arteriovenous malformation Hemihypertrophy Papilledema Anisocytosis Arterial thrombosis Buphthalmos Thin bony cortex Long penis Visceral angiomatosis Thick nasal alae Enlarged polycystic ovaries Capillary hemangioma Exostoses Asymmetry of the thorax Disproportionate tall stature Hemangioma Abnormality of the metacarpal bones Reduced number of teeth Lipodystrophy Chorioretinal coloboma Melanocytic nevus Hyperostosis Decreased muscle mass Pericardial effusion Lipoma Neurofibromas Multiple cafe-au-lait spots Hamartoma Ovarian neoplasm Generalized hyperpigmentation Spinal canal stenosis Irregular hyperpigmentation Abnormal lung lobation Neoplasm of the lung Asymmetric growth Thrombophlebitis Abnormality of the nail Encephalopathy Connective tissue nevi Depigmentation/hyperpigmentation of skin Hypertrophy of skin of soles Mandibular hyperostosis Ventriculomegaly Short neck Cerebellar atrophy Dystonia Areflexia Neoplasm of the thymus Hyporeflexia Rod-cone dystrophy Myoclonus Gait ataxia Acidosis Jaundice EEG abnormality Apnea Central heterochromia Abnormal subcutaneous fat tissue distribution Generalized hyperkeratosis Metatarsus valgus Neoplasm of the central nervous system Venous malformation Epibulbar dermoid Keloids Upper limb asymmetry Testicular neoplasm Lymphangioma Epidermal nevus Calvarial hyperostosis Retinal nonattachment Portal vein thrombosis Macrodactyly Sirenomelia Narrow internal auditory canal Facial hyperostosis Nevus sebaceous Thymus hyperplasia Retinal hamartoma Bronchogenic cyst Venous thrombosis Lymphopenia Chronic obstructive pulmonary disease Increased blood urea nitrogen Biventricular hypertrophy Abnormality of cardiovascular system physiology Decreased female libido Corneal crystals Limb pain Abnormality of temperature regulation Decreased glomerular filtration rate Distal renal tubular acidosis Reduced sperm motility Microalbuminuria Angiokeratoma Obstructive lung disease Impaired temperature sensation Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Primary hypothyroidism Conjunctival telangiectasia Mucosal telangiectasiae Asymmetric septal hypertrophy Achalasia Sinus bradycardia Myocardial fibrosis Chronic fatigue Abnormality of femur morphology Abnormality of the nose Abnormal myocardium morphology High-frequency hearing impairment Abnormal mitral valve morphology Supraventricular arrhythmia Gastrointestinal dysmotility Abnormal aortic valve morphology T-wave inversion Miosis Abnormal renal physiology Chronic pain Tubulointerstitial fibrosis Abnormal thrombosis Abnormal cornea morphology Concentric hypertrophic cardiomyopathy Unexplained fevers Abnormal vertebral morphology Long face Recurrent infections Abnormality of cardiovascular system morphology Skeletal dysplasia Finger syndactyly Hip dislocation Dolichocephaly Facial asymmetry Abnormality of skin pigmentation Renal cyst Syndactyly Gliosis Nevus Round face Overgrowth High myopia Epidermal acanthosis Heterotopia Sinusitis Immunodeficiency Anteverted nares ST segment depression Heavy proteinuria Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Acroparesthesia Downslanted palpebral fissures Abnormal common carotid artery morphology Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Cornea verticillata Neoplasm Low-set ears Ring fibers



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