Congestive heart failure, and Glomerulonephritis

Diseases related with Congestive heart failure and Glomerulonephritis

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


Top matches:

Medium 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

Medium match POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1


Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Low 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

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Other less relevant matches:

Low match ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1


Generalized arterial calcification of infancy (GACI) is a severe autosomal recessive disorder characterized by calcification of the internal elastic lamina of muscular arteries and stenosis due to myointimal proliferation. GACI is often fatal within the first 6 months of life because of myocardial ischemia resulting in refractory heart failure (summary by Rutsch et al., 2003 and Cheng et al., 2005). Genetic Heterogeneity of Arterial CalcificationGeneralized arterial calcification of infancy-2 (GACI2 ) is caused by mutation in the ABCC6 gene (OMIM ) on chromosome 16p13.Homozygous or compound heterozygous mutation in the NT5E gene (OMIM ) can cause adult-onset of calcification of arteries and joints (OMIM ).

ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1 Is also known as iiac|idiopathic infantile arterial calcification|gaci|arteriopathy, occlusive infantile|arterial calcification, idiopathic infantile

Related symptoms:

  • Short stature
  • Hearing impairment
  • Failure to thrive
  • Hypertension
  • Respiratory distress


SOURCES: OMIM MENDELIAN

More info about ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1; GACI1

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 MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Low match HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA


Hereditary paraganglioma-pheochromocytomas (PGL/PCC) are rare neuroendocrine tumors represented by paragangliomas (occurring in any paraganglia from the skull base to the pelvic floor) and pheochromocytomas (adrenal medullary paragangliomas; see this term).

HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA Is also known as familial pheochromocytoma-paraganglioma

Related symptoms:

  • Tremor
  • Fatigue
  • Congestive heart failure
  • Weight loss
  • Conductive hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY PHEOCHROMOCYTOMA-PARAGANGLIOMA

Low match PHEOCHROMOCYTOMA


Pheochromocytomas are catecholamine-secreting tumors that usually arise within the adrenal medulla. Approximately 10% arise in extraadrenal sympathetic ganglia, and are referred to as 'paragangliomas.' Approximately 10% are malignant, and approximately 10% are hereditary (Maher and Eng, 2002; Dluhy, 2002).Bolande (1974) introduced the concept and designation of the neurocristopathies, and identified 'simple,' including pheochromocytoma and medullary carcinoma of the thyroid, and 'complex' neurocristopathies and neurocristopathic syndromes, including NF1 and MEN2.Knudson and Strong (1972) applied Knudson's 2-mutation theory to pheochromocytoma (see discussion in {180200}) and concluded that it fits.Maher and Eng (2002) reviewed the clinical entities and genes associated with pheochromocytoma.

PHEOCHROMOCYTOMA Is also known as pheochromocytoma, susceptibility to

Related symptoms:

  • Neoplasm
  • Hypertension
  • Tremor
  • Fatigue
  • Congestive heart failure


SOURCES: ORPHANET OMIM MENDELIAN

More info about PHEOCHROMOCYTOMA

Low match HISTIOCYTOID CARDIOMYOPATHY


Histiocytoid cardiomyopathy is an arrhythmogenic disorder characterised by cardiomegaly, severe cardiac arrhythmias or sudden death, and the presence of histiocyte-like cells within the myocardium.

HISTIOCYTOID CARDIOMYOPATHY Is also known as foamy myocardial transformation of infancy|infantile cardiomyopathy with histiocytoid change|infantile xanthomatous cardiomyopathy|cardiomyopathy, oncocytic|cardiomyopathy, infantile xanthomatous|oncocytic cardiomyopathy|cardiomyopathy, focal lipid

Related symptoms:

  • Ventricular septal defect
  • Hydrocephalus
  • Cardiomyopathy
  • Atrial septal defect
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about HISTIOCYTOID CARDIOMYOPATHY

Low match FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE


Familial Partial lipodystrophy, Dunnigan type (FPLD2) is a rare form of genetic lipodystrophy (see this term) characterized by a loss of subcutaneous adipose tissue from the trunk, buttocks and limbs; fat accumulation in the neck, face, axillary and pelvic regions; muscular hypertrophy; and usually associated with metabolic complications such as insulin resistance, diabetes mellitus, dyslipidemia and liver steatosis.

FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE Is also known as fpl2|lipoatrophic diabetes|lipodystrophy, reverse partial|fpld2|familial partial lipodystrophy type 2|lipodystrophy, familial, of limbs and lower trunk|dunnigan syndrome|lipodystrophy, familial partial, dunnigan type

Related symptoms:

  • Short stature
  • Micrognathia
  • Cataract
  • Hypertension
  • Hepatomegaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PARTIAL LIPODYSTROPHY, DUNNIGAN TYPE

Top 5 symptoms//phenotypes associated to Congestive heart failure and Glomerulonephritis

Symptoms // Phenotype % cases
Hypertension Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Proteinuria Common - Between 50% and 80% cases
Short stature Uncommon - Between 30% and 50% cases
Glomerulosclerosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Congestive heart failure and Glomerulonephritis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of the kidney Myopathy Myalgia Renal insufficiency Glomerulopathy Conductive hearing impairment Hearing impairment Intellectual disability Cataract Diabetes mellitus Seizures Growth delay Scoliosis Failure to thrive Endocardial fibroelastosis Type II diabetes mellitus Hyperlipidemia Nephritis Hyperglycemia Atherosclerosis Polycystic ovaries Myocardial infarction Arteriosclerosis Tremor Nausea Cardiomegaly Ptosis Hepatomegaly Hepatic steatosis Chest pain Dilated cardiomyopathy Retinopathy Pallor Ataxia Sensorineural hearing impairment Weight loss Visual impairment Fatigue Constipation Respiratory distress Hypertrophic cardiomyopathy Obesity Dysphonia Malabsorption Hypercalcemia Hypothyroidism Pneumonia Scarring Kyphosis Corneal opacity Abnormality of the dentition Vocal cord paralysis Abnormality of lipid metabolism Cognitive impairment

Rare Symptoms - Less than 30% cases


Pulsatile tinnitus Tachycardia Hirsutism Adrenal pheochromocytoma Paroxysmal vertigo Sleep disturbance Recurrent paroxysmal headache Patent ductus arteriosus Cranial nerve compression Vesicoureteral reflux Recurrent respiratory infections Round face Otitis media Cyanosis Pigmentary retinopathy Sinus tachycardia Paraganglioma Epidermal acanthosis Hypertriglyceridemia Recurrent otitis media Depressivity Episodic paroxysmal anxiety Retinal degeneration Hyperhidrosis Hypertension associated with pheochromocytoma Elevated urinary norepinephrine Elevated urinary dopamine Abdominal pain Paraganglioma of head and neck Elevated urinary epinephrine Extraadrenal pheochromocytoma Autism Gastroesophageal reflux Episodic hyperhidrosis Kyphoscoliosis Infertility Pes planus Panic attack Irritability Hypertensive retinopathy Autistic behavior Positive regitine blocking test Recurrent urinary tract infections Ophthalmoplegia Pulmonic stenosis Carious teeth Involuntary movements Flushing Left ventricular hypertrophy Papule Right ventricular hypertrophy Decreased HDL cholesterol concentration Abnormal renal morphology Palpitations Acute pancreatitis Hematuria Urethral stenosis Abnormal chorioretinal morphology Albuminuria Arrhythmia Genu valgum Poor coordination Ventricular hypertrophy Renal artery stenosis Arterial stenosis Coronary artery stenosis Micrognathia Dysarthria Ventricular septal defect Atrial septal defect Pectus excavatum High forehead Sudden cardiac death Tubulointerstitial nephritis Cerebral hemorrhage Insulin resistance Portal hypertension Increased body weight Generalized hirsutism Hypogonadotrophic hypogonadism Nephrocalcinosis Acanthosis nigricans Pancreatitis Episodic abdominal pain Cholelithiasis Precocious puberty Hyperinsulinemia Lipodystrophy Chronic otitis media Retinal atrophy Obsessive-compulsive behavior Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Aniridia Glucose intolerance Polyuria Abnormal retinal morphology Pericardial effusion Progressive sensorineural hearing impairment Hyperuricemia Dilatation Insulin-resistant diabetes mellitus Renovascular hypertension Splenomegaly Hyperlordosis Microdontia Emphysema Short neck Abnormality of the liver Elevated hepatic transaminase Hepatosplenomegaly Elevated serum creatine phosphokinase Muscle weakness Abnormality of the vasculature Abnormal form of the vertebral bodies Stroke Developmental regression Pyelonephritis Villous atrophy Osteopenia Cerebral ischemia Recurrent infections Nephropathy Subvalvular aortic stenosis Immunodeficiency Abnormal facial shape Depressed nasal bridge Motor delay Myopia Vomiting Decreased testicular size Lymphadenopathy Intrauterine growth retardation Global developmental delay Delayed speech and language development Feeding difficulties Optic atrophy Reduced bone mineral density Strabismus Pain Stage 5 chronic kidney disease Behavioral abnormality Periorbital edema Tracheoesophageal fistula Loss of consciousness Peptic ulcer Open bite Hypoplastic toenails Abnormality of dental morphology Hallux valgus Rectal prolapse Dysgraphia Unilateral renal agenesis Vertebral segmentation defect Abnormality of nervous system morphology Abnormality of the voice Radioulnar synostosis Failure to thrive in infancy Phonophobia Parathyroid hyperplasia Abnormal glucose tolerance Redundant skin Increased nuchal translucency Retinal vascular tortuosity Thyroid hypoplasia Hypercalciuria Premature graying of hair Abnormality of refraction Celiac disease Peripheral pulmonary artery stenosis Dyslexia Enuresis Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Periorbital fullness Chronic constipation Hypoplasia of the zygomatic bone Decreased plasma carnitine Blue irides Abnormality of skin pigmentation Down-sloping shoulders Multiple renal cysts Patellar dislocation Gait imbalance Pulmonary artery stenosis Soft skin Lacrimation abnormality Nevus flammeus Arnold-Chiari type I malformation Posterior embryotoxon Bladder diverticulum Bulbous nose Megalocornea Insomnia Restlessness Cystic renal dysplasia Facial cleft Prematurely aged appearance High hypermetropia Schizophrenia Neutropenia Full cheeks Thick vermilion border Everted lower lip vermilion Postural instability Hypodontia Broad nasal tip Macroglossia Gliosis Dysmetria Abnormal cerebellum morphology Dental malocclusion Esotropia Renal agenesis Dehydration Tetralogy of Fallot Oral cleft Smooth philtrum Narrow forehead Wide mouth Intellectual disability, moderate Low-set, posteriorly rotated ears Feeding difficulties in infancy Protruding ear Paralysis Joint stiffness Craniosynostosis Joint hyperflexibility Blepharophimosis Abnormal cardiac septum morphology Attention deficit hyperactivity disorder Broad forehead Small for gestational age Neurological speech impairment Nausea and vomiting Abnormality of the cardiovascular system Hypotelorism Incoordination Widely spaced teeth Abnormality of dental enamel Abnormality of the fingernails Spina bifida occulta Cutis laxa Abnormal dermatoglyphics Progressive hearing impairment Bicuspid aortic valve Pointed chin Sacral dimple Ischemic stroke Infantile muscular hypotonia Aplasia/Hypoplasia of the iris Arnold-Chiari malformation Adducted thumb Abnormality of pelvic girdle bone morphology Hemivertebrae Increased bone mineral density Mitral valve prolapse Thick lower lip vermilion Hypoplasia of penis Abnormality of extrapyramidal motor function Coarctation of aorta Hypsarrhythmia Renal hypoplasia Small nail Hemiparesis Narrow face Open mouth Mitral regurgitation Nephrolithiasis Amblyopia Gingival overgrowth Aortic valve stenosis Hoarse voice Abnormal endocardium morphology Infantile hypercalcemia Renal duplication Skeletal myopathy Cranial nerve paralysis Spontaneous abortion Abnormality of the nail Thin skin Thin vermilion border Narrow chest Abnormality of the skeletal system Skeletal muscle atrophy Acute tubular necrosis Hypoplasia of the retina Increased mitochondrial number Histiocytoid cardiomyopathy Decreased activity of mitochondrial complex I Abnormal atrioventricular conduction Peters anomaly Coronary artery atherosclerosis Cardiac arrest Neoplasm of the endocrine system Pheochromocytoma Episodic hypertension Hydrocephalus Microphthalmia Agenesis of corpus callosum Ventricular tachycardia Abnormal myocardium morphology Ventricular fibrillation Hypoplastic left heart Congenital glaucoma Supraventricular tachycardia Wolff-Parkinson-White syndrome Left ventricular noncompaction Skeletal muscle hypertrophy Reduced subcutaneous adipose tissue Hemangioma Dysmenorrhea Labial pseudohypertrophy Myelin tomacula Enlarged peripheral nerve Loss of truncal subcutaneous adipose tissue Sunken cheeks Increased facial adipose tissue Abnormality of complement system Adipose tissue loss Osteopoikilosis Increased intraabdominal fat Abnormality of skeletal muscle fiber size Increased adipose tissue around the neck Eclampsia Congenital generalized lipodystrophy Loss of subcutaneous adipose tissue in limbs Cellulitis Peripheral arterial stenosis Lipoatrophy Aplasia/Hypoplasia of the skin Secondary amenorrhea Short clavicles Maternal diabetes Osteolytic defects of the phalanges of the hand Prominent superficial veins Absence of subcutaneous fat Angina pectoris Xanthomatosis Advanced eruption of teeth Hyperlipoproteinemia Abnormality of the menstrual cycle Generalized lipodystrophy Raynaud phenomenon Cafe-au-lait spot Colonic diverticula Flat cornea Overfriendliness Nystagmus-induced head nodding Thyroid hemiagenesis Bilateral vocal cord paralysis Elfin facies Medial flaring of the eyebrow Abnormality of the diencephalon Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Abnormal social behavior Dyssynergia Nocturia Vascular tortuosity Abnormality of the ankles Tubulointerstitial abnormality Overriding aorta Aortic arch aneurysm Obsessive-compulsive trait Synostosis of joints Abnormality of the gastric mucosa Abnormality of the bladder Retinal arteriolar tortuosity Hyperacusis Pelvic kidney Food intolerance Brain atrophy Early onset of sexual maturation Stellate iris Congenital cataract Renal cell carcinoma Carcinoma Neoplasm Arachnoid hemangiomatosis Anemia Fever Retinal capillary hemangioma Cerebellar atrophy Diarrhea Headache Elevated calcitonin Thrombocytopenia Dementia Thin upper lip vermilion Autoimmunity Hip dislocation Functional abnormality of male internal genitalia Bilateral sensorineural hearing impairment Descending aorta hypoplasia Vocal cord dysfunction Atrophy/Degeneration involving the corticospinal tracts Astigmatism Unsteady gait Vertigo Pancytopenia Platyspondyly External ophthalmoplegia Ragged-red muscle fibers Bundle branch block Vestibular dysfunction Macular dystrophy Left bundle branch block Cleft lip Cerebellar hypoplasia Joint laxity Polydipsia Abnormality of the hand Elevated alkaline phosphatase Lymphoproliferative disorder B-cell lymphoma Disproportionate short-trunk short stature Ovoid vertebral bodies Thoracic kyphosis Cone/cone-rod dystrophy Transient ischemic attack Protuberant abdomen Impaired vibratory sensation Acne Hyperostosis Multiple cafe-au-lait spots Goiter Tachypnea Steatorrhea Hypoplasia of the capital femoral epiphysis Sinusitis Gynecomastia Short toe Hypergonadotropic hypogonadism Recurrent pneumonia Horizontal nystagmus Right ventricular cardiomyopathy Hypercholesterolemia Cellular immunodeficiency Dentinogenesis imperfecta Absence seizures Accelerated skeletal maturation Macular degeneration Precocious atherosclerosis Diabetes insipidus Hypermelanotic macule Hepatic fibrosis Hypoventilation Spondyloepiphyseal dysplasia Melanocytic nevus Peripheral visual field loss Alopecia of scalp Hyperventilation Oligomenorrhea Autoimmune thrombocytopenia Posterior subcapsular cataract Broad foot Ketoacidosis Gingivitis Pendular nystagmus Epiphyseal dysplasia Severe sensorineural hearing impairment Thoracic scoliosis Pulmonary fibrosis Polyphagia Hydroureter Urinary urgency Truncal obesity Combined immunodeficiency High pitched voice Chorioretinal atrophy Short finger Pericarditis Agenesis of permanent teeth Glycosuria Bronchitis Focal segmental glomerulosclerosis Increased number of teeth Subcapsular cataract Hyperpigmentation of the skin Decreased liver function Encephalitis Severe failure to thrive Photophobia Deeply set eye Gastrointestinal inflammation Postnatal growth retardation Respiratory tract infection Recurrent pharyngitis Sparse hair Pharyngitis Progressive proximal muscle weakness Nyctalopia Cough Generalized tonic-clonic seizures Hypotrichosis Hypermetropia Jaundice Nystagmus Psoriasiform dermatitis Alopecia Encephalopathy Clinodactyly Visual loss Blindness Hyporeflexia Respiratory insufficiency Rod-cone dystrophy Dyspnea Myoclonus Peripheral neuropathy Hypogonadism Polydactyly Respiratory failure Hyperkeratosis Leukocytosis Progressive muscle weakness Mucopolysacchariduria Increased thyroid-stimulating hormone level Optic disc pallor Moyamoya phenomenon Abnormal immunoglobulin level Abnormal T cell morphology Pulmonary arterial hypertension Encephalomalacia Shallow acetabular fossae Premature arteriosclerosis Steroid-resistant nephrotic syndrome Multiple lentigines Thickened skin Chronic diarrhea Anorexia Abnormality of retinal pigmentation Hepatitis Anterior pituitary dysgenesis Delayed puberty Ascites Eczema Dry skin Cirrhosis Proximal muscle weakness Hepatic failure Retinal dystrophy Abdominal distention Specific learning disability Asthma Urinary incontinence Lateral displacement of the femoral head Gastrointestinal hemorrhage Growth hormone deficiency Nephrosclerosis Progressive visual loss Attenuation of retinal blood vessels Elevated serum creatinine Anxiety Lumbar hyperlordosis Hypophosphatemia Ankylosis Hypophosphatemic rickets Intellectual disability, profound Otosclerosis Angioid streaks of the fundus Vascular calcification Growth abnormality Arterial calcification Generalized arterial calcification Coronary artery calcification Periarticular calcification Generalized hypotonia Microcephaly Rickets Fine hair Muscular hypotonia Precocious puberty in females Dilatation of the bladder Unilateral breast hypoplasia Glue ear Recurrent cystitis Widely-spaced incisors Abnormal retinal artery morphology EEG with occipital slowing Abnormal lung morphology Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Abnormality of the femoral head Heterotopia Nephrotic syndrome Cleft palate Granular macular appearance Glaucoma Abnormal heart morphology Inguinal hernia Delayed skeletal maturation Clinodactyly of the 5th finger Dystonia Osteoporosis Cerebral cortical atrophy Hernia Micropenis Migraine Macrotia Arthralgia Coarse facial features Umbilical hernia Premature birth Absent speech Cryptorchidism Gait disturbance Spasticity Flexion contracture Epicanthus Hyperreflexia Wide nasal bridge Macrocephaly Waddling gait Midface retrusion Lymphoma Hypertonia Intellectual disability, mild Short nose Long philtrum Malar flattening Thickened ears Receptive language delay Acute hepatic failure Chills Abnormal left ventricle morphology Testicular atrophy Tubulointerstitial fibrosis Elevated C-reactive protein level Urinary retention Poor fine motor coordination Azoospermia Disinhibition Achromatopsia Opacification of the corneal stroma Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Bull's eye maculopathy Abnormal renal physiology Retinal pigment epithelial atrophy Increased total bilirubin Chronic fatigue Recurrent bronchitis Tubular atrophy Myocarditis Oligospermia Male hypogonadism Myocardial fibrosis Chronic obstructive pulmonary disease Coarse hair Esophageal varix Restrictive cardiomyopathy High-frequency hearing impairment Ovarian cyst Chronic kidney disease Menstrual irregularities Vertical nystagmus Frontal balding Hyperostosis frontalis interna Multifocal atrial tachycardia Abnormality of the pituitary gland Hypoplastic male external genitalia Hepatic necrosis Chronic hepatic failure Facial hirsutism ST segment depression Childhood-onset truncal obesity Squared iliac bones High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Nonproductive cough Abnormal adipose tissue morphology Chronic active hepatitis Urethral obstruction Abnormality of epiphysis morphology Hematemesis Abnormality of the urethra Melena First degree atrioventricular block Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Chronic infection Lumbar scoliosis Lymphopenia Abnormality of dental color Epigastric pain Bone marrow hypocellularity Urethral stricture Impaired temperature sensation Female hypogonadism Abnormal muscle tone Increased intramuscular fat



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