Cardiomyopathy, and Cough

Diseases related with Cardiomyopathy and Cough

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


Top matches:

Medium match FAMILIAL ISOLATED DILATED CARDIOMYOPATHY


Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated|cardiomyopathy, familial dilated, 1|cmpd1|familial or idiopathic dilated cardiomyopathy|fdc

Related symptoms:

  • Sensorineural hearing impairment
  • Feeding difficulties
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K


Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K Is also known as muscular dystrophy, limb-girdle, type 2k|muscular dystrophy, limb-girdle, autosomal recessive 11|lgmd2k|limb-girdle muscular dystrophy-intellectual disability syndrome|lgmdr11

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K

Medium match RIGID SPINE SYNDROME


Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

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Other less relevant matches:

Medium match CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS


Nemaline myopathy is a form of congenital myopathy characterized by abnormal thread- or rod-like structures in muscle fibers on histologic examination ('nema' is Greek for 'thread'). The clinical phenotype is highly variable, with differing age at onset and severity. Muscle weakness typically involves proximal muscles, with involvement of the facial, bulbar, and respiratory muscles (Ilkovski et al., 2001). Attempts at classification of nemaline myopathies into clinical subtypes have been complicated by the overlap of clinical features and a continuous phenotypic spectrum of disease (North et al., 1997; Wallgren-Pettersson et al., 1999; Ryan et al., 2001; Sanoudou and Beggs, 2001). In general, 2 clinical groups can be readily distinguished: 'typical' and 'severe.' Typical nemaline myopathy is the most common form, presenting as infantile hypotonia and muscle weakness. It is slowly progressive or nonprogressive, and most adults achieve ambulation. The severe form of the disorder is characterized by absence of spontaneous movement or respiration at birth, arthrogryposis, and death in the first months of life. Much less commonly, late-childhood or even adult-onset can occur. However, adult-onset nemaline myopathy is usually not familial and may represent a different disease (Wallgren-Pettersson et al., 1999; Sanoudou and Beggs, 2001).Myopathy caused by mutations in the ACTA1 gene can show a range of clinical and pathologic phenotypes. Some patients have classic rods, whereas others may also show intranuclear rods, clumped filaments, cores, or fiber-type disproportion (see {255310}), all of which are nonspecific pathologic findings and not pathognomonic of a specific congenital myopathy. The spectrum of clinical phenotypes caused by mutations in ACTA1 may result from different mutations, modifying factors affecting the severity of the disorder, variability in clinical care, or a combination of these factors (Nowak et al., 1999; Kaindl et al., 2004). Genetic Heterogeneity of Nemaline MyopathySee also NEM1 (OMIM ), caused by mutation in the tropomyosin-3 gene (TPM3 ) on chromosome 1q22; NEM2 (OMIM ), caused by mutation in the nebulin gene (NEB ) on chromosome 2q23; NEM4 (OMIM ), caused by mutation in the beta-tropomyosin gene (TPM2 ) on chromosome 9p13; NEM5 (OMIM ), also known as Amish nemaline myopathy, caused by mutation in the troponin T1 gene (TNNT1 ) on chromosome 19q13; NEM6 (OMIM ), caused by mutation in the KBTBD13 gene (OMIM ) on chromosome 15q22; NEM7 (OMIM ), caused by mutation in the cofilin-2 gene (CFL2 ) on chromosome 14q13; NEM8 (OMIM ), caused by mutation in the KLHL40 gene (OMIM ), on chromosome 3p22; NEM9 (OMIM ), caused by mutation in the KLHL41 gene (OMIM ) on chromosome 2q31; NEM10 (OMIM ), caused by mutation in the LMOD3 gene (OMIM ) on chromosome 3p14; and NEM11 (OMIM ), caused by mutation in the MYPN gene (OMIM ) on chromosome 10q21. Several of the genes encode components of skeletal muscle sarcomeric thin filaments (Sanoudou and Beggs, 2001).Mutations in the NEB gene are the most common cause of nemaline myopathy (Lehtokari et al., 2006).

CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS Is also known as actin myopathy

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH EXCESS OF THIN FILAMENTS

Low match DUCHENNE MUSCULAR DYSTROPHY


Duchenne muscular dystrophy (DMD) is a neuromuscular disease characterized by rapidly progressive muscle weakness and wasting due to degeneration of skeletal, smooth and cardiac muscle.

DUCHENNE MUSCULAR DYSTROPHY Is also known as dmd|duchenne muscular dystrophy|severe dystrophinopathy, duchenne type|muscular dystrophy, pseudohypertrophic progressive, duchenne type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DUCHENNE MUSCULAR DYSTROPHY

Low match GRANULOMATOSIS WITH POLYANGIITIS


Granulomatosis with polyangiitis is a small-vessel necrotizing vasculitis characterised by the association of inflammation of the vessel wall and peri- and extravascular granulomatosis.

GRANULOMATOSIS WITH POLYANGIITIS Is also known as wegener granulomatosis, formerly|gpa|wg, formerly

Related symptoms:

  • Seizures
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about GRANULOMATOSIS WITH POLYANGIITIS

Low match MYHRE SYNDROME


Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

MYHRE SYNDROME Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature|laps syndrome|growth-mental deficiency syndrome of myhre|facial dysmorphism-intellectual disability-short stature-hearing loss syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MYHRE 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 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

Low match LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO


Legionnaire disease (LD) is a type of pneumonia caused by Legionella pneumophila, a flagellated gram-negative bacterium found primarily in warm water environments. The disease and the bacterium were discovered following an outbreak traced to a 1976 American Legion convention in Philadelphia. A number of risk factors for acquiring LD have been identified, including age, smoking, chronic lung disease, cancer, and immunosuppression (summary by Hawn et al., 2003).

Related symptoms:

  • Ataxia
  • Neoplasm
  • Muscle weakness
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEGIONNAIRE DISEASE, SUSCEPTIBILITY TO

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Cough

Symptoms // Phenotype % cases
Respiratory insufficiency Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Respiratory failure Common - Between 50% and 80% cases
Respiratory distress Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Congestive heart failure

Uncommon Symptoms - Between 30% and 50% cases


Dyspnea Flexion contracture Scoliosis Abdominal pain Myalgia Pain Recurrent respiratory infections Sensorineural hearing impairment Muscle weakness Fatigue Myopathy Dilatation Arrhythmia Respiratory tract infection Constipation Proximal muscle weakness Hypoventilation Fever Renal insufficiency Proteinuria Pneumonia Pericarditis Hyporeflexia Global developmental delay Short stature Peripheral neuropathy Waddling gait Chest pain Edema Vomiting Hearing impairment Dilated cardiomyopathy Behavioral abnormality Seizures Intellectual disability Scarring Failure to thrive Ventricular arrhythmia Nausea and vomiting Hematuria Nephropathy Cataract Generalized hypotonia Restrictive cardiomyopathy Feeding difficulties Hyperlordosis Diarrhea Limb muscle weakness Stroke Elevated serum creatine phosphokinase Pancreatitis Diabetes insipidus Delayed speech and language development Glomerulopathy Cognitive impairment Gowers sign Neonatal hypotonia Chronic obstructive pulmonary disease Autistic behavior Muscular dystrophy Anorexia Ventricular hypertrophy Spinal rigidity Specific learning disability Left ventricular hypertrophy Congenital muscular dystrophy Nausea Wheezing Arthralgia Ataxia Headache Abnormal lung morphology

Rare Symptoms - Less than 30% cases


Restrictive ventilatory defect Elevated C-reactive protein level Angina pectoris Abnormality of the nose Pulmonary fibrosis Hemoptysis Stridor Elevated erythrocyte sedimentation rate Tracheal stenosis Pulmonary infiltrates Weight loss Chronic otitis media Arthritis Nyctalopia Myocarditis Sudden cardiac death Exercise intolerance Abnormal EKG Gastrointestinal dysmotility Visual impairment Visual loss Retinopathy Hemiplegia Skin rash Papule Paresthesia Gastrointestinal hemorrhage Otitis media Myocardial infarction Subcutaneous nodule Sinusitis Endocarditis Short toe Growth delay High-frequency hearing impairment Hypothyroidism Decreased glomerular filtration rate Abnormality of the kidney Delayed puberty Stage 5 chronic kidney disease Tachycardia Abdominal distention Urinary incontinence Hypotension Tubulointerstitial fibrosis Abnormal renal physiology Hyperlipidemia Chronic fatigue Hyperhidrosis Myocardial fibrosis Abnormality of the hand Polydipsia Impaired vibratory sensation Polyuria Emphysema Oligospermia Tubular atrophy Progressive sensorineural hearing impairment Elevated serum creatinine Tubulointerstitial nephritis Glycosuria Hyperkeratosis Depressivity Strabismus Sparse hair Short neck Hepatitis Midface retrusion Obesity Clinodactyly Patent ductus arteriosus Hypogonadism Autism Mandibular prognathia Deeply set eye Conductive hearing impairment Postnatal growth retardation Prominent nasal bridge Optic atrophy Lymphadenopathy Hypermetropia Thick eyebrow Abnormality of the cardiovascular system Jaundice Thickened skin Precocious puberty Splenomegaly Pericardial effusion Short finger Oligomenorrhea ST segment depression Impaired temperature sensation Hyperactivity Purpura Skeletal muscle atrophy Arthrogryposis multiplex congenita Limb-girdle muscle weakness Severe sensorineural hearing impairment Abnormal left ventricle morphology Myotonia Progressive muscle weakness Increased variability in muscle fiber diameter Generalized muscle weakness Muscle fiber necrosis Apnea Hepatomegaly Breech presentation Chills Abnormality of the cerebral white matter Falls Nocturnal hypoventilation Microcephaly Paralysis Type 1 muscle fiber predominance High palate Hypertrophic cardiomyopathy Skeletal muscle hypertrophy Limb-girdle muscular dystrophy Easy fatigability Blindness Abnormality of the skeletal system Syncope Palpitations EMG abnormality Rigidity Tachypnea Calf muscle hypertrophy Generalized amyotrophy Right ventricular hypertrophy Facial palsy Difficulty climbing stairs Muscular hypotonia Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Increased glomerular filtration rate Increased carotid artery intimal medial thickness Abnormal renal morphology Abnormal ST segment Abnormal common carotid artery morphology Acroparesthesia Tenesmus Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Hyperkeratotic papule Abnormality of the forehead Abnormality of glycosphingolipid metabolism Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract Abnormality of renal calyx morphology Unexplained fevers Heavy proteinuria Alopecia Cornea verticillata Irritability Abnormal retinal artery morphology Retinal degeneration Precocious puberty in females Dry skin Infertility Carious teeth EEG with occipital slowing Pulmonic stenosis Ophthalmoplegia Hypotrichosis Generalized tonic-clonic seizures Abnormality of the liver Pallor Abnormality of prothrombin Elevated hepatic transaminase Nystagmus Photophobia Hepatosplenomegaly Pes planus Kyphoscoliosis Gastroesophageal reflux Polydactyly Diabetes mellitus Myoclonus Rod-cone dystrophy Concentric hypertrophic cardiomyopathy Encephalopathy Kyphosis Dystonia Abnormality of the dentition Mucosal telangiectasiae Abnormality of the femoral head Coronary artery stenosis Encephalitis Hallucinations Chronic pain Lymphopenia Miosis T-wave inversion Abnormal aortic valve morphology Periorbital fullness Abnormal mitral valve morphology Asymmetric septal hypertrophy Bone marrow hypocellularity Abnormal myocardium morphology Abnormality of femur morphology Shock Sinus bradycardia Achalasia Abnormality of the renal tubule Clubbing of fingers Peripheral arterial stenosis Hyponatremia Reduced ejection fraction Cellulitis Heat intolerance Chronic lung disease Supraventricular tachycardia Large earlobe Abnormality of the gastrointestinal tract Reduced consciousness/confusion Edema of the lower limbs Renal tubular dysfunction Recurrent pharyngitis Abnormal thrombosis Abnormal cornea morphology Shortened PR interval Confusion Decreased lacrimation Angiokeratoma corporis diffusum Shortened QT interval Hyposthenuria Localized hirsutism Obstructive lung disease Angiokeratoma Reduced sperm motility Vitreous haze Cirrhosis Increased blood urea nitrogen Neoplasm Distal renal tubular acidosis Vascular tortuosity Nephrogenic diabetes insipidus Dysesthesia Abnormal endocardium morphology Migraine Supraventricular arrhythmia Conjunctival telangiectasia Microalbuminuria Primary hypothyroidism Biventricular hypertrophy Abnormality of cardiovascular system physiology Sepsis Decreased female libido Vascular skin abnormality Retinal vascular tortuosity Corneal crystals Limb pain Abnormality of temperature regulation Widely-spaced incisors Glue ear Hepatic failure Melena Abnormality of the urethra Chronic infection Chorioretinal atrophy Abnormal spermatogenesis Abnormality of the optic disc First degree atrioventricular block Hematemesis Lumbar scoliosis Frontal balding Increased total bilirubin Polyphagia Vertical nystagmus Agenesis of permanent teeth Bull's eye maculopathy Abnormal retinal morphology Abnormality of dental color Multinodular goiter Constriction of peripheral visual field Female hypogonadism Nephritis Urethral stricture Obsessive-compulsive behavior Aplasia/Hypoplasia of the cerebellum Abnormal chorioretinal morphology Acne Truncal obesity Xerostomia Hyperostosis Hyperglycemia Glucose intolerance Hydroureter Urinary urgency Epigastric pain Bronchitis Abnormality of female external genitalia Portal hypertension Arteriosclerosis Gingivitis Pendular nystagmus Attenuation of retinal blood vessels Acute hepatic failure Recurrent bronchitis Urinary retention Testicular atrophy Ketoacidosis Disinhibition Retinal pigment epithelial atrophy Male hypogonadism Esophageal varix Ovarian cyst Endocardial fibroelastosis Decreased HDL cholesterol concentration Poor fine motor coordination Broad foot Hepatic encephalopathy Thoracic scoliosis Urethral stenosis Achromatopsia Acute pancreatitis Hyperuricemia Increased number of teeth Subcapsular cataract Autoimmune thrombocytopenia Posterior subcapsular cataract Insulin-resistant diabetes mellitus Retinal atrophy Peripheral visual field loss Alopecia of scalp Pyelonephritis Hyperventilation Poor coordination Abnormal muscle tone Albuminuria Hirsutism Epidermal acanthosis Cyanosis Abnormal adipose tissue morphology Pigmentary retinopathy Optic disc pallor Cardiomegaly Type II diabetes mellitus Pulmonary arterial hypertension Progressive visual loss Hypertriglyceridemia Recurrent otitis media Involuntary movements Recurrent urinary tract infections Chronic diarrhea Nonproductive cough Chronic active hepatitis Hyperostosis frontalis interna Insulin resistance Unilateral breast hypoplasia Retinal dystrophy Recurrent cystitis Hepatic steatosis Menstrual irregularities Sleep disturbance Ascites Asthma Receptive language delay Dilatation of the bladder Thickened ears Vesicoureteral reflux Granular macular appearance Round face Growth hormone deficiency Decreased testicular size Abnormality of retinal pigmentation Exudative retinopathy Renovascular hypertension Elevated alkaline phosphatase Hypercholesterolemia Cone/cone-rod dystrophy Goiter Polycystic ovaries Facial hirsutism Cholelithiasis Chronic hepatic failure Atherosclerosis Hepatic necrosis Hypoplastic male external genitalia Hyperinsulinemia Lipodystrophy Abnormality of the pituitary gland Urethral obstruction Squared iliac bones Multifocal atrial tachycardia Acanthosis nigricans Decreased liver function Recurrent pneumonia Increased circulating androgen level High-frequency sensorineural hearing impairment Hepatic fibrosis Hyperpigmentation of the skin Gynecomastia Hypergonadotropic hypogonadism Horizontal nystagmus Macular degeneration Increased body weight Generalized hirsutism Childhood-onset truncal obesity Hypogonadotrophic hypogonadism Nephrocalcinosis Absence seizures Accelerated skeletal maturation Transient ischemic attack Craniofacial hyperostosis Abnormality of lipid metabolism Congenital stationary night blindness Exertional dyspnea Difficulty running Myoglobinuria Male pseudohermaphroditism Chromosome breakage Shoulder girdle muscle weakness Intestinal pseudo-obstruction Toe walking Proximal muscle weakness in lower limbs Shoulder girdle muscle atrophy Gastroparesis Calf muscle pseudohypertrophy Proximal lower limb amyotrophy Hemiatrophy Abnormality of color vision Hypokalemia Absent muscle dystrophin expression Intellectual disability, severe Slender build Neck flexor weakness Diaphragmatic paralysis Fetal distress Percussion myotonia Late-onset distal muscle weakness Intellectual disability, mild Macroglossia Cerebral atrophy EEG abnormality Abnormality of the eye Distal muscle weakness Attention deficit hyperactivity disorder Distal amyotrophy Red-green dyschromatopsia Proptosis Fetal akinesia sequence Ocular pain Abnormality of the hypothalamus-pituitary axis Recurrent corneal erosions Nasal obstruction Inflammatory abnormality of the eye Periorbital edema Rhinorrhea Subglottic stenosis Concave nasal ridge Pleuritis Granulomatosis Neuritis Ureteral stenosis Abnormal oral cavity morphology Episcleritis Cerebral ischemia Myositis Hydronephrosis Meningitis Autoimmunity Sensory neuropathy Epistaxis Diplopia Skin ulcer Hoarse voice Vasculitis Gangrene Conjunctivitis Cranial nerve paralysis Venous thrombosis Glomerulonephritis Pleural effusion Intestinal obstruction Petechiae Nemaline bodies Facial diplegia Increased inflammatory response Malignant hyperthermia Elbow flexion contracture Poor head control Nasal speech High pitched voice Hip contracture Neck muscle weakness Thoracolumbar scoliosis Triceps weakness Cor pulmonale Restrictive deficit on pulmonary function testing Abnormality of the rib cage Axial muscle weakness Respiratory arrest Reduced vital capacity Thigh hypertrophy Impaired visuospatial constructive cognition Orthopnea Abnormality of neutrophils Ventriculomegaly Palmoplantar keratoderma Palmoplantar hyperkeratosis Congenital sensorineural hearing impairment Lipoatrophy Thromboembolism Impaired myocardial contractility Hypoglycosylation of alpha-dystroglycan Diffuse palmoplantar hyperkeratosis Difficulty walking Lumbar hyperlordosis Hypokinesia Centrally nucleated skeletal muscle fibers Abnormal glycosylation Peroneal muscle atrophy Crackles EMG: neuropathic changes EMG: myopathic abnormalities Joint contracture of the hand Narrow face Foot dorsiflexor weakness Knee flexion contracture Respiratory insufficiency due to muscle weakness Infantile muscular hypotonia Congenital contracture Decreased fetal movement Akinesia Mask-like facies Myopathic facies Mildly elevated creatine phosphokinase Bulbar palsy Thin ribs Frequent falls Pulmonary hypoplasia Minicore myopathy Hyperreflexia Hamstring contractures Limited neck flexion Abnormality of skeletal morphology Type 1 and type 2 muscle fiber minicore regions Abnormality on pulmonary function testing Cardiac conduction abnormality Dysphagia Genu valgum Hypertonia Pectus excavatum Areflexia Pes cavus Polyhydramnios Retrognathia Feeding difficulties in infancy Arteritis Scleritis Aortic root aneurysm Pruritus Coarse facial features Carcinoma Anxiety Abnormality of the nervous system Developmental regression Corneal opacity Malabsorption Anemia Vertigo Bulbous nose Thick vermilion border Muscle cramps Mitral valve prolapse Nephrotic syndrome Posteriorly rotated ears Hypoplasia of eyelid Atrial fibrillation Esophageal stenosis Abnormality of the menstrual cycle Unilateral cleft lip Abnormal lip morphology Abnormality of the penis Stiff skin Pseudopapilledema Large iliac wings Gingival cleft Pear-shaped nose Constrictive pericarditis Abnormality of the pubic bone Generalized muscle hypertrophy Laryngotracheal stenosis Enlarged vertebral pedicles Thick lower lip vermilion Mitral regurgitation Femoral hernia Impotence Heart murmur Clubbing Tricuspid regurgitation Anhidrosis Loss of consciousness Bundle branch block Coronary artery atherosclerosis Glomerulosclerosis Interstitial pulmonary abnormality Orthostatic hypotension Celiac disease Telangiectasia of the skin Abnormal heart valve morphology Renal tubular acidosis Personality changes Prominent supraorbital ridges Hypohidrosis Ventricular tachycardia Lymphedema Bradycardia Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Aminoaciduria Aortic regurgitation Chronic kidney disease Abnormal intestine morphology Progressive hearing impairment Corneal dystrophy Ischemic stroke Reduced bone mineral density Tinnitus Atrioventricular block Epispadias Peptic ulcer Recurrent intrapulmonary hemorrhage Joint stiffness Inguinal hernia Severe short stature Narrow mouth Thin upper lip vermilion Cleft lip Camptodactyly Blepharophimosis Hypospadias Abnormal cardiac septum morphology Microtia Short philtrum Small for gestational age Platyspondyly Astigmatism Abnormal heart morphology Abnormality of cardiovascular system morphology Thin vermilion border Low-set ears Prostatitis Hypertelorism Abnormal facial shape Cleft palate Cryptorchidism Ptosis Brachydactyly Recurrent infections Intrauterine growth retardation Macrocephaly Ventricular septal defect Cerebellar atrophy Malar flattening Syndactyly Microphthalmia Oral cleft Short palm Constrictive median neuropathy Thickened calvaria 2-3 toe syndactyly Blurred vision External genital hypoplasia Vertebral fusion High hypermetropia Abnormal joint morphology Keratoconus Radial deviation of finger Arthropathy Submucous cleft hard palate Irregular vertebral endplates Chronic constipation Hypoplastic iliac wing Broad ribs Overlapping toe Oral-pharyngeal dysphagia Hypoplasia of the maxilla Fine hair Progressive cerebellar ataxia Bifid uvula Limitation of joint mobility Amenorrhea Coarctation of aorta Abnormality of the ribs Short palpebral fissure Cone-shaped epiphysis Choanal atresia Abnormality of the metaphysis Abnormality of epiphysis morphology Aortic valve stenosis Narrow palpebral fissure Short long bone Abnormality of the voice Abnormality of the pleura



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