Congestive heart failure, and Stage 5 chronic kidney disease

Diseases related with Congestive heart failure and Stage 5 chronic kidney disease

In the following list you will find some of the most common rare diseases related to Congestive heart failure and Stage 5 chronic kidney disease that can help you solving undiagnosed cases.


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High match AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE


Autosomal recessive polycystic kidney disease (ARPKD) is an inherited disorder characterised by the development of cysts affecting the collecting ducts. It is frequently associated with hepatic involvement.

AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE Is also known as polycystic kidney and hepatic disease 1|polycystic kidney disease, infantile, type i|pkhd1|arpkd|ar-pkd|polycystic kidney disease, autosomal recessive|polycystic kidney disease 4 with or without hepatic disease|pkd3, formerly

Related symptoms:

  • Micrognathia
  • Hypertension
  • Hepatomegaly
  • Ventricular septal defect
  • Respiratory insufficiency


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE

High match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME


Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported.

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME Is also known as mitochondrial dna maintenance syndrome due to mgme1 deficiency|peo-myopathy-emaciation syndrome|mtdna maintenance syndrome due to mgme1 deficiency

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Muscle weakness
  • Ptosis
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA-MYOPATHY-EMACIATION SYNDROME

High match CRANIOECTODERMAL DYSPLASIA


Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).

CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i|sensenbrenner syndrome|ced

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Growth delay
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CRANIOECTODERMAL DYSPLASIA

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Other less relevant matches:

High match SCHIMKE IMMUNO-OSSEOUS DYSPLASIA


Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.

SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA

High match ISOLATED COMPLEX I DEFICIENCY


Isolated complex I deficiency is a rare inborn error of metabolism due to mutations in nuclear or mitochondrial genes encoding subunits or assembly factors of the human mitochondrial complex I (NADH: ubiquinone oxidoreductase) and is characterized by a wide range of manifestations including marked and often fatal lactic acidosis, cardiomyopathy, leukoencephalopathy, pure myopathy and hepatopathy with tubulopathy. Among the numerous clinical phenotypes observed are Leigh syndrome, Leber hereditary optic neuropathy and MELAS syndrome (see these terms).

ISOLATED COMPLEX I DEFICIENCY Is also known as isolated nadh-ubiquinone reductase deficiency|nadh:q(1) oxidoreductase deficiency|isolated nadh-coq reductase deficiency|isolated mitochondrial respiratory chain complex i deficiency|isolated nadh-coenzyme q reductase deficiency|nadh-coenzyme q reductase

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

High match ALAGILLE SYNDROME 1; ALGS1


Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).

ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about ALAGILLE SYNDROME 1; ALGS1

High 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

Medium match ALSTRÖM SYNDROME


Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

Medium match MALIGNANT HYPERTHERMIA OF ANESTHESIA


Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.

MALIGNANT HYPERTHERMIA OF ANESTHESIA Is also known as hyperthermia of anesthesia

Related symptoms:

  • Fever
  • Metabolic acidosis
  • Muscle stiffness
  • Ventricular tachycardia
  • Tachypnea


SOURCES: ORPHANET MENDELIAN

More info about MALIGNANT HYPERTHERMIA OF ANESTHESIA

Medium match PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY


Phosphoenolpyruvate carboxykinase (PEPCK) deficiency is a gluconeogenesis disorder that results from impairment in the enzyme PEPCK, and comprising cytosolic (PEPCK1) and mitochondrial (PEPCK2) forms of enzyme deficiency. Onset of symptoms is neonatal or a few months after birth and includes hypoglycemia associated with acute episodes of severe lactic acidosis, progressive neurological deterioration, severe liver failure, renal tubular acidosis and Fanconi syndrome. Patients also present progressive multisystem damage with failure to thrive, muscular weakness and hypotonia, developmental delay with seizures, spasticity, lethargy, microcephaly and cardiomyopathy. To date, there is no conclusive evidence of the existence of an isolated form of this disorder.

PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY Is also known as pepck deficiency|pc deficiency|leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency|ataxia with lactic acidosis ii|leigh syndrome due to pyruvate carboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHOSPHOENOLPYRUVATE CARBOXYKINASE DEFICIENCY

Top 5 symptoms//phenotypes associated to Congestive heart failure and Stage 5 chronic kidney disease

Symptoms // Phenotype % cases
Renal insufficiency Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hepatomegaly Common - Between 50% and 80% cases
Hypertension Uncommon - Between 30% and 50% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Stage 5 chronic kidney disease. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Chronic kidney disease Vomiting Cardiomyopathy Respiratory failure Global developmental delay Seizures Growth delay Abnormality of the kidney Hearing impairment Renal tubular acidosis Stroke Failure to thrive Pneumonia Nephropathy Scarring Abnormality of the liver Short stature Dilatation Hepatic failure Respiratory distress Retinopathy Myalgia Metabolic acidosis Pigmentary retinopathy Micrognathia Clinodactyly Left ventricular hypertrophy Abnormality of the dentition Myopia Motor delay Generalized hypotonia Cataract Exercise intolerance Acidosis Emphysema Encephalopathy Tubulointerstitial nephritis Anemia Cognitive impairment Abnormal facial shape Intrauterine growth retardation Hypothyroidism Proteinuria Developmental regression Malabsorption Elevated serum creatinine Nephrotic syndrome Fatigue Hyperlipidemia Glomerulosclerosis Nausea Glomerulopathy Tachypnea Strabismus Sensorineural hearing impairment Peripheral neuropathy Optic atrophy Delayed puberty Nystagmus Dyspnea Kyphosis Atrial septal defect Hepatosplenomegaly Abnormal lung morphology Hepatic fibrosis Portal hypertension Tubulointerstitial fibrosis Cerebellar atrophy Diarrhea Fever Hyporeflexia

Rare Symptoms - Less than 30% cases


Abnormality of the vasculature Decreased testicular size Tachycardia Abnormal form of the vertebral bodies Atherosclerosis Impaired temperature sensation Reduced bone mineral density Tubular atrophy Nephritis Oligospermia Cough Transient ischemic attack Premature birth Supraventricular tachycardia Hyperkeratosis Ataxia Abdominal pain Hyperhidrosis Chronic obstructive pulmonary disease Muscular hypotonia Feeding difficulties Visual impairment Constipation Macrocephaly Ketoacidosis Migraine Depressivity Anorexia Abnormality of the hand Specific learning disability Ventricular tachycardia Polydipsia Gastrointestinal hemorrhage Impaired vibratory sensation Short neck Diabetes insipidus Headache Polyuria Progressive sensorineural hearing impairment Abdominal distention Urinary incontinence Glycosuria Corneal opacity Acute hepatic failure Round face Abnormality of skin pigmentation Bulbous nose Abnormal cerebellum morphology Gliosis Vesicoureteral reflux Brain atrophy Cirrhosis Edema ST segment depression Pulmonic stenosis Chorioretinal atrophy Leukodystrophy Horizontal nystagmus Pancreatitis Decreased glomerular filtration rate Pericardial effusion Heart murmur Acute pancreatitis Biventricular hypertrophy Lymphedema Pruritus Ventricular hypertrophy Corneal dystrophy Necrotizing encephalopathy Congenital lactic acidosis Hypercholesterolemia Visual loss Coarse facial features Jaundice Deeply set eye Elevated hepatic transaminase Conductive hearing impairment Carcinoma Telangiectasia of the skin Coarctation of aorta Blindness Chronic hepatic failure Dystonia Behavioral abnormality Patent ductus arteriosus Hypertriglyceridemia Pain Myoclonus Myocardial fibrosis Kyphoscoliosis Chronic fatigue Hypoglycemia Hypertrophic cardiomyopathy Peripheral arterial stenosis Irritability Pallor Restrictive cardiomyopathy Lactic acidosis Hepatic steatosis High-frequency hearing impairment Increased serum lactate Cyanosis Abnormal renal physiology Optic disc pallor Cardiomegaly Areflexia Arteriosclerosis Depressed nasal bridge Short distal phalanx of finger Hematemesis Microcephaly Ptosis Skeletal muscle atrophy Short toe Dysphagia Recurrent infections Arrhythmia Fine hair Microdontia Hypogonadism Hypodontia Proximal muscle weakness Retinal dystrophy Dilated cardiomyopathy Esophageal varix Easy fatigability Scoliosis Frontal bossing Abnormality of the skeletal system Hernia Clinodactyly of the 5th finger Photophobia Ragged-red muscle fibers Ophthalmoplegia Postnatal growth retardation Protruding ear Hypergonadotropic hypogonadism Craniosynostosis Sparse hair Limb muscle weakness Hepatic cysts Muscle weakness Cholestasis Splenomegaly Protuberant abdomen Macrotia Ventricular septal defect Renal hypoplasia/aplasia Hyperphosphatemia Anhidrosis Proximal renal tubular acidosis Unexplained fevers Ventricular extrasystoles Renal tubular dysfunction Myoglobinuria Increased head circumference Malignant hyperthermia Functional abnormality of the gastrointestinal tract Periventricular cysts Acute kidney injury Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Chronic metabolic acidosis Coronary artery stenosis Shortened PR interval Loss of consciousness Bundle branch block Decreased lacrimation Impotence Coronary artery atherosclerosis Elevated erythrocyte sedimentation rate Acute rhabdomyolysis Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Interstitial pulmonary abnormality Cystinuria Tricuspid regurgitation Abnormality of the coagulation cascade Clubbing Abnormal ST segment Recurrent respiratory infections EEG with occipital slowing Alopecia Obesity Delayed speech and language development Abnormality of prothrombin Prominent supraorbital ridges Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Abnormality of renal calyx morphology Localized hirsutism Increased carotid artery intimal medial thickness Abnormal common carotid artery morphology Hyperkalemia Hyperkeratotic papule Obstructive lung disease Muscle stiffness Impaired renal concentrating ability Personality changes Abnormality of glycosphingolipid metabolism Abnormality of the forehead Abnormality of the femoral head Acroparesthesia Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Vitreous haze Heavy proteinuria Hemiplegia Orthostatic hypotension Angiokeratoma Exercise-induced rhabdomyolysis Achalasia Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy Necrotizing myopathy Abnormal myocardium morphology Intermittent painful muscle spasms Abnormality of skeletal muscles Abnormality of the nose Abnormality of femur morphology High-output congestive heart failure Abnormal EKG Sinus bradycardia Abnormality of masseter muscle Cardiomyocyte mitochondrial proliferation Dysarthria Abnormal aortic valve morphology Heat intolerance Dysgraphia Abnormality of the gastrointestinal tract Periventricular leukomalacia Athetosis Large earlobe CNS hypomyelination Reduced ejection fraction Hyperalaninemia Clubbing of fingers Angina pectoris Xerostomia Hyperammonemia Clonus Intellectual disability, severe Gastrointestinal dysmotility T-wave inversion Increased serum pyruvate Corneal crystals Edema of the lower limbs Hypercapnia Reduced sperm motility Celiac disease Increased blood urea nitrogen Distal renal tubular acidosis Vascular tortuosity Abnormal heart valve morphology Wheezing Aortic root aneurysm Nephrogenic diabetes insipidus Abnormality of temperature regulation Abnormality of lipid metabolism Limb pain Diabetes mellitus Miosis Supraventricular arrhythmia Elevated creatine kinase after exercise Chronic pain Abnormal thrombosis Abnormality of the renal tubule Abnormal cornea morphology Dysesthesia Conjunctival telangiectasia Retinal vascular tortuosity Microalbuminuria Primary hypothyroidism Abnormal endocardium morphology Abnormality of cardiovascular system physiology Decreased female libido Vascular skin abnormality Rod-cone dystrophy Generalized tonic-clonic seizures Polydactyly Lumbar scoliosis Bronchitis Hyperuricemia Increased number of teeth Abnormality of dental color Subcapsular cataract Pericarditis Thoracic scoliosis Autoimmune thrombocytopenia Short finger Severe sensorineural hearing impairment Abnormality of the urethra Hypoventilation Insulin-resistant diabetes mellitus Chronic infection Retinal atrophy Abnormal spermatogenesis Agenesis of permanent teeth Epigastric pain Peripheral visual field loss Hyperglycemia Chronic otitis media Obsessive-compulsive behavior Tinnitus Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Acne Hyperostosis Glucose intolerance Abnormal chorioretinal morphology Pulmonary fibrosis Hydroureter Urinary urgency Truncal obesity Abnormal retinal morphology Polyphagia Urethral stricture Abnormality of the optic disc Alopecia of scalp Hyperinsulinemia Ovarian cyst Pyelonephritis Poor fine motor coordination Recurrent bronchitis Myocarditis Urinary retention Elevated C-reactive protein level Male hypogonadism Testicular atrophy Right ventricular hypertrophy Decreased HDL cholesterol concentration Abnormal left ventricle morphology Menstrual irregularities Disinhibition Abnormal renal morphology Retinal pigment epithelial atrophy Endocardial fibroelastosis Chills Achromatopsia Hyperventilation Gingivitis Poor coordination Oligomenorrhea First degree atrioventricular block Posterior subcapsular cataract Broad foot Melena Frontal balding Increased total bilirubin Attenuation of retinal blood vessels Vertical nystagmus Bull's eye maculopathy Multinodular goiter Abnormality of female external genitalia Pendular nystagmus Hepatic encephalopathy Urethral stenosis Lipodystrophy Precocious puberty Weight loss Thickened ears Growth hormone deficiency Recurrent cystitis Glue ear Otitis media Unilateral breast hypoplasia Dilatation of the bladder Progressive visual loss Hepatitis Asthma Type II diabetes mellitus Epidermal acanthosis Granular macular appearance Pulmonary arterial hypertension Recurrent otitis media Involuntary movements Recurrent urinary tract infections Widely-spaced incisors Ascites Chronic diarrhea Hypotrichosis Autism Gastroesophageal reflux Pes planus Respiratory tract infection Autistic behavior Nyctalopia Precocious puberty in females Hypermetropia Sleep disturbance Carious teeth Abnormal retinal artery morphology Infertility Dry skin Retinal degeneration Lymphadenopathy Hirsutism Thickened skin Abnormality of retinal pigmentation Elevated alkaline phosphatase Abnormal muscle tone Hypoplastic male external genitalia Abnormality of the pituitary gland Absence seizures Urethral obstruction Squared iliac bones Renovascular hypertension Albuminuria Accelerated skeletal maturation Nephrocalcinosis Macular degeneration Acanthosis nigricans Female hypogonadism Cone/cone-rod dystrophy Goiter Polycystic ovaries Cholelithiasis Hepatic necrosis Facial hirsutism Receptive language delay Abnormal adipose tissue morphology Insulin resistance Decreased liver function Hyperpigmentation of the skin Sinusitis Gynecomastia Hyperostosis frontalis interna Chronic active hepatitis Nonproductive cough Multifocal atrial tachycardia Recurrent pneumonia Increased body weight Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Generalized hirsutism Childhood-onset truncal obesity Hypogonadotrophic hypogonadism Atrioventricular block Pointed chin Ventricular arrhythmia Astigmatism Dementia Osteopenia Thin upper lip vermilion Hyperlordosis Autoimmunity Hip dislocation Platyspondyly Neutropenia Immunodeficiency Lymphoma Waddling gait Lumbar hyperlordosis Intellectual disability, profound Heterotopia Abnormality of epiphysis morphology Lymphopenia Thrombocytopenia Malformation of the hepatic ductal plate Opacification of the corneal stroma Abnormality of the abdominal wall Scaphocephaly Taurodontia Anodontia Abnormal toenail morphology Slow-growing hair Sagittal craniosynostosis Abnormal diaphysis morphology Flattened epiphysis Broad distal phalanges of all fingers Thin nail Interstitial pneumonitis Short nail Tubulointerstitial abnormality Broad toe Renal magnesium wasting Incisional hernia Bone marrow hypocellularity Azoospermia Short humerus Shallow acetabular fossae Dentinogenesis imperfecta Cellular immunodeficiency Right ventricular cardiomyopathy Hypoplasia of the capital femoral epiphysis Mucopolysacchariduria Multiple lentigines Steroid-resistant nephrotic syndrome Increased thyroid-stimulating hormone level Precocious atherosclerosis Encephalomalacia Abnormal T cell morphology Abnormal immunoglobulin level Moyamoya phenomenon Premature arteriosclerosis Anterior pituitary dysgenesis Nephrosclerosis Subvalvular aortic stenosis Cerebral ischemia Coarse hair Combined immunodeficiency Encephalitis Epiphyseal dysplasia Glomerulonephritis Melanocytic nevus Spondyloepiphyseal dysplasia Focal segmental glomerulosclerosis High pitched voice Hypermelanotic macule Villous atrophy Steatorrhea Multiple cafe-au-lait spots Thoracic kyphosis Ovoid vertebral bodies Disproportionate short-trunk short stature B-cell lymphoma Lymphoproliferative disorder Fibular hypoplasia High hypermetropia Spasticity Primary amenorrhea Azotemia Absence of renal corticomedullary differentiation Elevated serum creatine phosphokinase Cerebellar hypoplasia Facial palsy Generalized muscle weakness Amenorrhea External ophthalmoplegia Periportal fibrosis Respiratory insufficiency due to muscle weakness Dysphonia Nasal speech Generalized amyotrophy Spinal rigidity Progressive external ophthalmoplegia Proximal amyotrophy Hypoplasia of the ear cartilage Potter facies High palate Enlarged kidney Low-set, posteriorly rotated ears Pulmonary hypoplasia Renal cyst Dehydration Oligohydramnios Depressed nasal ridge Polycystic kidney dysplasia Multiple renal cysts Hypersplenism Chronic lung disease Atelectasis Cholangitis Congenital hepatic fibrosis Pancreatic cysts Biliary tract abnormality Portal fibrosis Spinal deformities Epicanthus Prominent occiput Cutis laxa Omphalocele Hypoplasia of dental enamel Rhizomelia Short ribs Hypocalcemia Abnormality of dental enamel Abnormality of the fingernails Widely spaced teeth Hypotelorism Bicuspid aortic valve Redundant skin Radial deviation of finger Cupped ear Abnormality of dental morphology Thoracic hypoplasia Short thorax Abnormality of the metaphysis Limb undergrowth Brachydactyly Joint laxity Wide nasal bridge Anteverted nares Abnormality of cardiovascular system morphology Pectus excavatum Osteoporosis High forehead Telecanthus Finger syndactyly Ectodermal dysplasia Dolichocephaly Narrow chest Joint hyperflexibility High, narrow palate Everted lower lip vermilion Single transverse palmar crease Full cheeks Lateral displacement of the femoral head Hyperreflexia Ischemic stroke Axenfeld anomaly Hypopigmentation of the fundus Arterial stenosis Butterfly vertebrae Abnormal anterior chamber morphology Biliary atresia Band keratopathy Papillary thyroid carcinoma Vitamin D deficiency Peripheral pulmonary artery stenosis Renal artery stenosis Multiple small medullary renal cysts Intrahepatic biliary atresia Unicoronal synostosis Rectourethral fistula Reduced number of intrahepatic bile ducts Butterfly vertebral arch Fat malabsorption Abnormal pupil morphology Posteriorly rotated ears Abnormality of the ureter Spina bifida occulta Hypoplasia of the ulna Malnutrition Vertebral segmentation defect Long nose Prolonged neonatal jaundice Keratoconus Posterior embryotoxon Thyroid carcinoma Exocrine pancreatic insufficiency Hepatocellular carcinoma Dilatation of the cerebral artery Pulmonary artery stenosis Coronal craniosynostosis Intrahepatic cholestasis Cholestatic liver disease Midface retrusion Mandibular prognathia Multicystic kidney dysplasia Bradycardia Thick lower lip vermilion Atrial fibrillation Myocardial infarction Palpitations Mitral regurgitation Subcutaneous nodule Hypohidrosis Fasciculations Abnormality of the cardiovascular system Abnormal autonomic nervous system physiology Spontaneous abortion Aminoaciduria Purpura Aortic regurgitation Abnormal intestine morphology Progressive hearing impairment Mitral valve prolapse Hypotension Arthralgia Nausea and vomiting Arthritis Anxiety Abnormality of the nervous system Skin rash Prominent nasal bridge Papule Abnormality of the cerebral white matter Paresthesia Syncope Vertigo Thick eyebrow Thick vermilion border Hematuria Muscle cramps Chest pain Sudden cardiac death Finger clinodactyly Hemivertebrae Talipes equinovarus Adrenal insufficiency Wide anterior fontanel Aspiration Cardiac arrest Shock Leukoencephalopathy Incoordination Oral-pharyngeal dysphagia Global brain atrophy Febrile seizures Progressive spasticity Poor eye contact Weak cry Basal ganglia calcification Optic neuropathy Progressive encephalopathy Mitochondrial myopathy Congenital diaphragmatic hernia Generalized myoclonic seizures Aspiration pneumonia Feeding difficulties in infancy Myopathy Babinski sign Agenesis of corpus callosum Muscular hypotonia of the trunk Abnormality of the eye Mental deterioration Apnea Abnormal pyramidal sign Progressive cerebellar ataxia Severe global developmental delay Lethargy Abnormality of eye movement Abnormality of movement Talipes Dyskinesia Coma Cardiorespiratory arrest Nemaline bodies Abnormal vertebral morphology Hypopigmentation of the skin Prominent forehead Upslanted palpebral fissure Brachycephaly Short philtrum Broad forehead Anal atresia Flat face Microcornea Intellectual disability, mild Triangular face Prominent nose Tetralogy of Fallot Abnormality of the ribs Renal hypoplasia Renal dysplasia Exotropia Delayed skeletal maturation Downslanted palpebral fissures Increased CSF lactate Infantile encephalopathy Wolff-Parkinson-White syndrome Corpus callosum atrophy Severe lactic acidosis Cerebral edema Stiff neck Decreased activity of mitochondrial respiratory chain Axial dystonia Macrovesicular hepatic steatosis Cryptorchidism Cardiogenic shock Progressive macrocephaly Abnormal mitochondria in muscle tissue Acute necrotizing encephalopathy Exercise-induced lactic acidemia Hypertelorism Neoplasm Neuronal loss in the cerebral cortex



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