Cardiomyopathy, and Lymphedema

Diseases related with Cardiomyopathy and Lymphedema

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


Top matches:

Medium match ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1


Alpha-N-acetylgalactosaminidase (NAGA) deficiency type 1 is a very rare and severe type of NAGA deficiency (see this term) characterized by infantile neuroaxonal dystrophy.

ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1 Is also known as schindler disease type 1|naga deficiency type 1

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Nystagmus
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ALPHA-N-ACETYLGALACTOSAMINIDASE DEFICIENCY TYPE 1

Medium match SCHINDLER DISEASE, TYPE I


Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disorder. It is clinically heterogeneous with 3 main phenotypes: type I is an infantile-onset neuroaxonal dystrophy; type II, also known as Kanzaki disease (OMIM ), is an adult-onset disorder characterized by angiokeratoma corporis diffusum and mild intellectual impairment; and type III is an intermediate disorder with mild to moderate neurologic manifestations (Desnick and Schindler, 2001).

SCHINDLER DISEASE, TYPE I Is also known as neuroaxonal dystrophy, schindler type|naga deficiency, type i|alpha-n-acetylgalactosaminidase deficiency, type i

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SCHINDLER DISEASE, TYPE I

Medium match HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE


Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.

HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE Is also known as hypertrichotic osteochondrodysplasia

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERTRICHOTIC OSTEOCHONDRODYSPLASIA, CANTU TYPE

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Other less relevant matches:

Low match NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA


Noonan syndrome-like disorder with juvenile myelomonocytic leukemia is a rare, genetic, polymalformative syndrome with increased risk of developing cancer characterized by a Noonan-like phenotype, including typical dysmorphic facial features (i.e. high forehead, hypertelorism, downslanting palpebral fissures, ptosis, low-set ears, prominent philtrum and short neck with or without pterygium colli), thoracic abnormalities, congenital heart defects and short stature, associated with a very frequent ocurrence of juvenile myelomonocytic leukemia. Developmental delay, ectodermal anomalies, joint laxity, and hypotonia may also be associated.

NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA Is also known as cbl mutation-associated syndrome|noonan syndrome-like disorder with jmml|cbl syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME-LIKE DISORDER WITH JUVENILE MYELOMONOCYTIC LEUKEMIA

Low match NOONAN SYNDROME 1; NS1


Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).

NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NOONAN SYNDROME 1; NS1

Low match NOONAN SYNDROME


Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

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 CARDIOFACIOCUTANEOUS SYNDROME


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

Low match COSTELLO SYNDROME


Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

Low match BURULI ULCER, SUSCEPTIBILITY TO


Buruli ulcer is an infectious disease prevalent in many tropical and subtropical regions caused by infection with Mycobacterium ulcerans. It is the third most frequent mycobacterial disease in humans worldwide, after tuberculosis (OMIM ) and leprosy (OMIM ). Lesions are most common on exposed parts of the body, especially the limbs. Buruli ulcer derives its name from a county in Uganda, East Africa, north of Kampala, where the disease was found in the late 1950s in hundreds of people living near marshes and riverine areas near the Nile River (Clancey et al., 1961; Barker, 1971). The disease was first described in the medical literature in 1948 in a report on patients in Australia (MacCallum et al., 1948). Patients have also been reported from tropical areas in Latin America and Asia (Stienstra et al., 2006; van der Werf et al., 2005).

BURULI ULCER, SUSCEPTIBILITY TO Is also known as mycobacterium ulcerans, susceptibility to

Related symptoms:

  • Edema


SOURCES: OMIM MENDELIAN

More info about BURULI ULCER, SUSCEPTIBILITY TO

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Lymphedema

Symptoms // Phenotype % cases
Strabismus Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Thick vermilion border Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cardiomyopathy and Lymphedema. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Intellectual disability

Uncommon Symptoms - Between 30% and 50% cases


Coarse facial features

Common Symptoms - More than 50% cases


Hypertelorism

Uncommon Symptoms - Between 30% and 50% cases


Epicanthus

Common Symptoms - More than 50% cases


Short neck

Uncommon Symptoms - Between 30% and 50% cases


Gastroesophageal reflux

Common Symptoms - More than 50% cases


Edema

Uncommon Symptoms - Between 30% and 50% cases


Short stature

Common Symptoms - More than 50% cases


Nystagmus

Uncommon Symptoms - Between 30% and 50% cases


Muscular hypotonia Depressed nasal bridge Webbed neck Growth delay Sparse hair Low-set, posteriorly rotated ears Cryptorchidism Atrial septal defect Low posterior hairline Polyhydramnios Posteriorly rotated ears Ptosis Feeding difficulties Pectus excavatum Constipation Downslanted palpebral fissures Abnormality of cardiovascular system morphology Pulmonic stenosis Cognitive impairment Hearing impairment Failure to thrive in infancy Generalized hypotonia Hepatomegaly Optic atrophy Delayed skeletal maturation Poor suck Hypertension Anteverted nares Pleural effusion Long philtrum Cubitus valgus Thrombocytopenia Hyperkeratosis Ventricular septal defect Myopia Feeding difficulties in infancy High palate Low-set ears Thick lower lip vermilion Micrognathia Abnormal facial shape Failure to thrive Abnormal mitral valve morphology Delayed speech and language development Macrocephaly Postnatal growth retardation Proptosis High, narrow palate Cafe-au-lait spot Bruising susceptibility Osteopenia Joint hypermobility Scoliosis Cataract Pectus carinatum Abnormal bleeding Concentric hypertrophic cardiomyopathy Multiple lentigines Dysarthria Arnold-Chiari type I malformation Neoplasm Kyphoscoliosis Wide intermamillary distance Dysphagia Arrhythmia Thick upper lip vermilion Sensorineural hearing impairment Hyperpigmentation of the skin Delayed puberty Mitral valve prolapse Neurodevelopmental delay Triangular face Bilateral ptosis Arnold-Chiari malformation High forehead Hernia Hypogonadism Broad forehead Congestive heart failure Leukemia Mitral regurgitation Hypermetropia Frontal bossing Decreased body weight Vomiting Inguinal hernia Astigmatism Coarctation of aorta Dental malocclusion Splenomegaly Abdominal distention Abnormal heart morphology Abnormal heart valve morphology Large for gestational age Reduced factor XII activity Cerebral visual impairment Intellectual disability, mild Prominent forehead Vertigo Abnormality of the cerebral white matter Developmental regression Abnormality of the testis Bicuspid aortic valve Autism Hyperhidrosis Cerebral cortical atrophy Intellectual disability, severe Cardiomegaly Peripheral neuropathy Ventricular hypertrophy Curly hair Heart murmur Patent ductus arteriosus

Rare Symptoms - Less than 30% cases


Hypotrichosis Cerebral atrophy Abnormal cardiac septum morphology Hydrocephalus Short nose Abnormality of the dentition Sleep disturbance Ventriculomegaly Functional abnormality of the gastrointestinal tract Abnormal aortic valve morphology Gastrointestinal dysmotility Left ventricular hypertrophy Irritability Growth hormone deficiency Abdominal pain Hyperextensible skin Juvenile myelomonocytic leukemia Hyperextensibility of the finger joints Deep palmar crease Pain Brachydactyly Woolly hair Fever Generalized hyperpigmentation Redundant skin Relative macrocephaly Full cheeks Hemangioma Headache Dilatation Cutis laxa Clinodactyly Narrow palate Abnormal myocardium morphology Premature birth Nevus Asymmetric septal hypertrophy Abnormal dermatoglyphics Large earlobe Loose anagen hair Restrictive cardiomyopathy Redundant neck skin Shield chest Synovitis Schwannoma Abnormality of refraction Amegakaryocytic thrombocytopenia Superior pectus carinatum Neurofibrosarcoma Premature skin wrinkling Abnormality of the pulmonary artery Talipes equinovarus Midface retrusion Thickened nuchal skin fold Clinodactyly of the 5th finger Hydronephrosis Aortic root aneurysm Neurological speech impairment Joint hyperflexibility Pulmonary lymphangiectasia Thickened helices Abnormal pulmonary valve morphology Abnormality of the gastrointestinal tract Pruritus Tricuspid regurgitation Myocardial infarction Melanocytic nevus Abnormality of the cardiovascular system Amblyopia Hematuria Neurofibromas Bulbous nose Tachycardia Abnormality of the kidney Hyperkeratosis pilaris Abnormality of the nervous system Cystic hygroma Depressivity Male infertility Renal insufficiency Neuroblastoma Behavioral abnormality Respiratory insufficiency Abnormal location of ears Puberty and gonadal disorders Atrial fibrillation Carcinoma Blindness Hepatosplenomegaly Vascular skin abnormality Hydrops fetalis Motor delay Hip dysplasia Abnormality of the skeletal system Ascites Long eyelashes Falls Joint laxity Paresthesia Angiokeratoma Microcephaly Skeletal dysplasia Angiokeratoma corporis diffusum Prominent supraorbital ridges Apnea Macrotia Myopathy Pyloric stenosis Tetraplegia Aortic valve stenosis Fine hair Deep philtrum Generalized amyotrophy Prominent fingertip pads Myoclonus Wide mouth Anxiety Chylothorax Deep plantar creases Spasticity Telangiectasia of the skin Abnormality of the spleen Muscle weakness Short attention span Elevated alkaline phosphatase Thick eyebrow Abnormality of the thorax Osteoporosis Umbilical hernia Inflammatory abnormality of the skin Thickened skin Open mouth Hemiplegia/hemiparesis Vesicoureteral reflux Oculomotor apraxia Hemiparesis Narrow forehead Aspiration Abnormal palate morphology Intestinal malrotation Sparse eyelashes Sleep apnea Abnormality of the nail Telangiectasia Aplasia/Hypoplasia of the corpus callosum Progressive visual loss Aplasia/Hypoplasia of the cerebellum Broad toe Abnormality of the genitourinary system Hydroureter Alopecia of scalp Atopic dermatitis Poor appetite Underdeveloped supraorbital ridges Anal stenosis Submucous cleft hard palate Abnormal pyramidal sign Biparietal narrowing Multiple cafe-au-lait spots Long palpebral fissure Abnormality of the sternum Infantile spasms Aplasia/Hypoplasia of the eyebrow Malnutrition Delayed gross motor development Open bite Absent eyebrow Obsessive-compulsive behavior Chronic otitis media Ectropion Scaling skin Abnormality of brainstem morphology Brittle hair Sensory neuropathy Abnormality of extrapyramidal motor function Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Sparse eyebrow Dolichocephaly Hyperreflexia Shortened QT interval Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Generalized myoclonic seizures ST segment depression Unexplained fevers Mucosal telangiectasiae Coronary artery stenosis Shortened PR interval Decreased lacrimation Hyposthenuria Acroparesthesia Impaired temperature sensation Obstructive lung disease Reduced sperm motility Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Decreased glomerular filtration rate Nephrogenic diabetes insipidus Abnormality of temperature regulation Limb pain Corneal crystals Retinal vascular tortuosity Decreased female libido Abnormality of cardiovascular system physiology Heavy proteinuria Abnormal common carotid artery morphology Palmoplantar keratoderma Abnormality of the eye Hepatic steatosis Retinal dystrophy Long face Abnormality of skin pigmentation Peripheral axonal neuropathy Ichthyosis Dry skin Genu valgum Enlarged kidney Nail dystrophy Scarring Erythema Respiratory tract infection Cerebellar hypoplasia Telecanthus Abnormal ST segment Congenital cataract Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Cornea verticillata Ataxia Severe global developmental delay Aggressive behavior Hypertonia Kyphosis Malar flattening Encephalopathy Alopecia EEG abnormality Abnormal eyelash morphology Abnormality of hair texture Absent eyelashes Central apnea Papilloma Bronchomalacia Fetal distress Limited elbow movement Abnormality of earlobe Broad femoral neck Rhabdomyosarcoma Pneumothorax Concave nail Hypoplasia of teeth Fasting hypoglycemia Broad philtrum Labial hypoplasia Lack of skin elasticity Verrucae Thin nail Large forehead Achilles tendon contracture Progeroid facial appearance Barrel-shaped chest Megalencephaly Fragile nails Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Soft skin Neonatal hypoglycemia Syringomyelia Central hypotonia Tracheomalacia Large face Hematemesis Rhabdomyolysis Multifocal atrial tachycardia Systolic heart murmur Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Alveolar rhabdomyosarcoma Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Cardiomyocyte hypertrophy Bladder carcinoma Choroid plexus papilloma Neonatal sepsis Embryonal rhabdomyosarcoma Melena Deep-set nails Vestibular Schwannoma Frontal hirsutism Ganglioneuroblastoma Transitional cell carcinoma of the bladder Hypopnea Shyness Postprandial hyperglycemia Body odor Ulnar deviation of the wrist Duodenal ulcer Bladder neoplasm Capillary malformation Triangular mouth Ulnar deviation of finger Keratoconus Hypoplasia of the zygomatic bone Abnormality of the optic disc Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Abnormality of the hairline Tongue thrusting Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Optic nerve dysplasia Patchy alopecia Abnormal tricuspid valve morphology Anterior creases of earlobe Oral aversion Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Cavernous hemangioma Biventricular hypertrophy Excessive wrinkled skin Subvalvular aortic stenosis Slow-growing hair Delayed CNS myelination Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Abnormality of the ulna Multiple plantar creases Absent speech Reduced subcutaneous adipose tissue Wide anterior fontanel Rocker bottom foot Hypoplastic toenails Bilateral cryptorchidism Hyperglycemia Aortic aneurysm Laryngomalacia Infantile muscular hypotonia Acanthosis nigricans Abnormality of the fingernails Short chin Abnormality of dental enamel Pointed chin Hoarse voice Abnormality of the hair Hypoplasia of dental enamel Pes cavus Epidermal acanthosis Apraxia Eczema Overgrowth Abnormality of the skin Sepsis Macroglossia Postural instability Wide nose Arthrogryposis multiplex congenita Intellectual disability, moderate Hypoglycemia Respiratory failure Severe short stature Abnormal endocardium morphology Recurrent pneumonia Primary hypothyroidism Scapular winging Acute lymphoblastic leukemia Thoracic scoliosis Metaphyseal widening Abnormality of digit Atrioventricular canal defect Prolonged bleeding time Abnormality of coagulation Myopathic facies Flared metaphysis Radioulnar synostosis Abnormality of the urinary system Coarse hair Broad hallux Hypogonadotrophic hypogonadism Abnormality of the mouth Pericardial effusion Abnormality of the genital system Thin ribs Tetralogy of Fallot Otitis media Thickened calvaria Short hallux Ovoid vertebral bodies Broad ribs Broad hallux phalanx Esodeviation Generalized hypertrichosis Large sella turcica Curly eyelashes Pulmonary artery stenosis Acute leukemia Preductal coarctation of the aorta Intestinal lymphangiectasia Abnormal anterior segment morphology Abnormal nipple morphology Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Short distal phalanx of finger Prominent nasolabial fold Hypertrichosis Reduced factor XI activity Abnormal platelet function Reduced factor VIII activity Abnormality of the metaphysis Unilateral ptosis Abnormality of the mandible High anterior hairline Prolonged QRS complex Abnormality of the lymphatic system Abnormal hair quantity Enlarged thorax Myeloproliferative disorder Elevated circulating luteinizing hormone level Gingival overgrowth Low anterior hairline Aplasia/Hypoplasia of the abdominal wall musculature Generalized hirsutism Elevated circulating follicle stimulating hormone level Coxa valga Abnormality of the helix Accelerated skeletal maturation Postductal coarctation of the aorta Nasogastric tube feeding Abnormal atrial septum morphology Cholelithiasis Clumsiness Primary amenorrhea Amenorrhea Highly arched eyebrow Lymphoma Facial asymmetry Esotropia Cyanosis Epistaxis Rod-cone dystrophy Bilateral single transverse palmar creases Vasculitis Torticollis Overfolded helix Plagiocephaly Proximal placement of thumb Decreased muscle mass Abnormal eyebrow morphology Facial hypotonia Hydrocele testis B-cell lymphoma Abnormality of the subarachnoid space Reduced factor X activity Reduced prothrombin activity Hypochromic microcytic anemia Hypoplasia of olfactory tract Reduced factor IX activity Abnormality of the mediastinum Arteritis Abnormality of the foot Azoospermia Reduced factor XIII activity Widened posterior fossa Gonadal neoplasm Pectus excavatum of inferior sternum Erlenmeyer flask deformity of the femurs Panuveitis Congenital, generalized hypertrichosis Bilateral coxa valga Cuboid-shaped vertebral bodies Hypoplastic aortic arch Lymphangioma Optic disc hypoplasia Asymmetry of the thorax Broad first metatarsal Hypoplastic ischiopubic rami Congenital hypertrophy of left ventricle Atrial flutter Pterygium Nonimmune hydrops fetalis Drusen Malignant hyperthermia Gonadal dysgenesis Abnormality of blood and blood-forming tissues Gait disturbance Abnormality of the vertebral column Respiratory distress Abnormality of color vision Leukocytosis Abnormality of the coagulation cascade Radial deviation of finger Myelodysplasia Patent foramen ovale Abnormal lymphatic vessel morphology Aplasia of lymphatic vessels Microalbuminuria Celiac disease Tubular atrophy Elevated serum creatinine Tubulointerstitial nephritis Edema of the lower limbs Renal tubular dysfunction Transient ischemic attack Xerostomia Abnormal EKG Abnormality of lipid metabolism Wheezing Renal tubular acidosis Glycosuria Glomerulopathy Orthostatic hypotension Oligospermia Progressive sensorineural hearing impairment Interstitial pulmonary abnormality Elevated erythrocyte sedimentation rate Coronary artery atherosclerosis Impotence Bundle branch block Loss of consciousness Emphysema Anhidrosis Polyuria Diabetes insipidus Impaired vibratory sensation Clubbing Personality changes Diffuse white matter abnormalities Psychomotor deterioration Glomerulosclerosis Periorbital fullness Conjunctival telangiectasia Supraventricular arrhythmia Dysesthesia Abnormal cornea morphology Abnormality of the renal tubule Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis T-wave inversion Generalized-onset seizure Clonus Monocytosis Supraventricular tachycardia High-frequency hearing impairment Vegetative state Abnormality of the nose Abnormality of femur morphology Chronic fatigue Myocardial fibrosis Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Polydipsia Hemiplegia Prominent digit pad Skin rash Nephropathy Oligosacchariduria Increased urinary O-linked sialopeptides Wide nasal bridge Nausea Stage 5 chronic kidney disease Nausea and vomiting Malabsorption Papule Corneal opacity Prominent nasal bridge Cough Stroke Recurrent infections Chest pain Proteinuria Arthritis Myalgia Arthralgia Mandibular prognathia Dyspnea Hypothyroidism Finger syndactyly Platyspondyly Diarrhea Narrow chest Fatigue Anemia Abnormality of the vestibular nerve Muscle cramps Sudden cardiac death Abnormality of the hand Aminoaciduria Chronic kidney disease Atrioventricular block Easy fatigability Tinnitus Ventricular arrhythmia Reduced bone mineral density Ischemic stroke Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Aortic regurgitation Ventricular tachycardia Hyperlipidemia Purpura Exercise intolerance Syncope Spontaneous abortion Abnormal autonomic nervous system physiology Fasciculations Bradycardia Hypohidrosis Anorexia Subcutaneous nodule Abnormal lung morphology Palpitations Progressive psychomotor deterioration Nephrotic syndrome Long-tract signs Hypotension Urinary incontinence Increased corneal curvature



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