Cardiomyopathy, and Joint hyperflexibility

Diseases related with Cardiomyopathy and Joint hyperflexibility

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


Top matches:

Medium match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Medium match PSEUDOXANTHOMA ELASTICUM


Pseudoxanthoma elasticum (PXE) is an inherited connective tissue disorder characterized by progressive calcification and fragmentation of elastic fibers in the skin, retina, and arterial walls.

PSEUDOXANTHOMA ELASTICUM Is also known as pxe|gronblad-strandberg-touraine syndrome|gronblad-strandberg syndrome

Related symptoms:

  • Scoliosis
  • Growth delay
  • High palate
  • Visual impairment
  • Hypertension


SOURCES: ORPHANET OMIM MENDELIAN

More info about PSEUDOXANTHOMA ELASTICUM

Medium match ARTERIAL TORTUOSITY SYNDROME


Arterial tortuosity syndrome (ATS) is a rare connective tissue disorder characterized by tortuosity and elongation of the large and medium-sized arteries and a propensity towards aneurysm formation, vascular dissection, and stenosis of the pulmonary arteries.

ARTERIAL TORTUOSITY SYNDROME Is also known as ats

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Scoliosis
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about ARTERIAL TORTUOSITY SYNDROME

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Other less relevant matches:

Medium match NOONAN SYNDROME WITH MULTIPLE LENTIGINES


Noonan syndrome with multiple lentigines (NSML), previously known as LEOPARD syndrome, is a rare multisystem genetic disorder characterized by lentigines, hypertrophic cardiomyopathy, short stature, pectus deformity, and dysmorphic facial features.

NOONAN SYNDROME WITH MULTIPLE LENTIGINES Is also known as leopard syndrome|cardiomyopathic lentiginosis|familial multiple lentigines syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about NOONAN SYNDROME WITH MULTIPLE LENTIGINES

Medium match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Medium match COFFIN-LOWRY SYNDROME


Coffin-Lowry syndrome (CLS) is a rare genetic neurological disorder characterized by psychomotor and growth retardation, facial dysmorphism, digit abnormalities, and progressive skeletal changes.

COFFIN-LOWRY SYNDROME Is also known as cls

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COFFIN-LOWRY SYNDROME

Medium 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

Medium match CARTILAGE-HAIR HYPOPLASIA


Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

CARTILAGE-HAIR HYPOPLASIA Is also known as autosomal recessive metaphyseal chondrodysplasia|metaphyseal chondrodysplasia, mckusick type

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about CARTILAGE-HAIR HYPOPLASIA

Medium match COHEN SYNDROME; COH1


Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Medium 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

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Joint hyperflexibility

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Scoliosis Very Common - Between 80% and 100% cases
Growth delay Common - Between 50% and 80% cases
Muscular hypotonia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Strabismus

Uncommon Symptoms - Between 30% and 50% cases


Myopia

Common Symptoms - More than 50% cases


Hypertrophic cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases


Depressed nasal bridge

Common Symptoms - More than 50% cases


Short stature

Uncommon Symptoms - Between 30% and 50% cases


Hypertelorism

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Failure to thrive

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Abnormal facial shape Joint hypermobility Hyperextensible skin Hearing impairment Cognitive impairment Delayed skeletal maturation Pectus carinatum Macrocephaly Sensorineural hearing impairment Pectus excavatum Mitral valve prolapse Dilatation High palate Abnormal mitral valve morphology Thick vermilion border Low-set, posteriorly rotated ears Delayed puberty Arrhythmia Failure to thrive in infancy Edema Short neck Redundant skin Ptosis Cryptorchidism Abnormality of cardiovascular system morphology Gastroesophageal reflux Macrotia Hypertension Congestive heart failure Redundant neck skin Hepatomegaly Postural instability Epicanthus Feeding difficulties in infancy Downslanted palpebral fissures Dysarthria Intellectual disability, mild Kyphoscoliosis Motor delay Abnormality of the skeletal system Respiratory failure Cataract Muscle weakness Nystagmus Respiratory distress Ventricular septal defect Abnormality of retinal pigmentation Inguinal hernia Micrognathia Dysphagia Thrombocytopenia Postnatal growth retardation Sparse hair High, narrow palate Thickened nuchal skin fold Joint laxity Cutis laxa Mitral regurgitation Clinodactyly of the 5th finger Thick lower lip vermilion Decreased body weight Hyperlordosis Abnormal pulmonary valve morphology Aplasia/Hypoplasia of the abdominal wall musculature Curly hair Scapular winging Cafe-au-lait spot Abnormality of the genital system Webbed neck Tetraplegia Dilated cardiomyopathy Pulmonic stenosis Wide anterior fontanel Mandibular prognathia Anteverted nares Coarse facial features Wide mouth Neurological speech impairment Respiratory insufficiency Myocardial infarction Feeding difficulties Stroke Specific learning disability Visual loss Hypogonadism Visual impairment Intrauterine growth retardation Renal insufficiency Fatigue Gait disturbance Aciduria Optic atrophy

Rare Symptoms - Less than 30% cases


Tetralogy of Fallot Brachycephaly Long eyelashes Neonatal hypotonia Rhabdomyolysis Growth hormone deficiency Exercise intolerance Astigmatism Intellectual disability, moderate Hyperkeratosis Hernia Cataplexy Lactic acidosis Microcephaly Brachydactyly Frontal bossing Ventriculomegaly Acidosis Hydrocephalus Kyphosis Cerebral cortical atrophy Posteriorly rotated ears Ragged-red muscle fibers Laryngomalacia Respiratory tract infection Left ventricular hypertrophy Abnormal aortic valve morphology Apraxia Melanocytic nevus Bilateral cryptorchidism Atrioventricular canal defect Neuroblastoma Severe sensorineural hearing impairment Premature skin wrinkling Nevus Shield chest Abnormality of the pulmonary artery Telecanthus Multiple lentigines Muscle cramps Metabolic acidosis Myopathy Diarrhea Behavioral abnormality Large face Triangular face High forehead Hypoglycemia Pes planus Severe global developmental delay Rod-cone dystrophy Cubitus valgus Polyhydramnios Anemia Spasticity Otitis media Gingival overgrowth Lymphedema Abnormal dermatoglyphics Arnold-Chiari malformation Radioulnar synostosis Pleural effusion Lumbar hyperlordosis Constipation Convex nasal ridge Thoracic scoliosis Abnormality of the testis Neutropenia Small hand Arthrogryposis multiplex congenita Ataxia Carcinoma Severe short stature Recurrent infections Neoplasm Proptosis Skeletal muscle atrophy Protruding ear Cerebral atrophy Elevated serum creatine phosphokinase Low-set ears Encephalopathy Thick eyebrow Wide nose Highly arched eyebrow Tapered finger Single transverse palmar crease Hypoplasia of the maxilla Short metacarpal Dental malocclusion Open mouth Atrial septal defect Abnormal form of the vertebral bodies Abnormality of the hair Narrow palate Coarse hair Abnormality of dental morphology Abnormality of digit Soft skin Hyperextensibility of the finger joints Abnormality of the hip bone Abnormal diaphysis morphology Talipes equinovarus Wide nasal bridge Small for gestational age Arterial stenosis Retinopathy Rocker bottom foot Reduced visual acuity Aortic aneurysm Glutaric aciduria Pyloric stenosis Blindness Abnormal endocardium morphology Cutis marmorata Coxa valga Blue sclerae Tricuspid regurgitation Aortic root aneurysm Cardiac arrest Excessive wrinkled skin Dyspnea Subcutaneous nodule Hip dysplasia Hypothyroidism Arachnodactyly Myoglobinuria Abnormality of the thorax Restrictive cardiomyopathy Lack of skin elasticity Keratoconus Intracranial hemorrhage Malar flattening Pulmonary artery stenosis Abnormality of skin pigmentation Bruising susceptibility Abnormality of the mouth Cardiorespiratory arrest Hiatus hernia Short nose Gastrointestinal hemorrhage Abnormality of the skin Telangiectasia of the skin Macrocytic anemia Achilles tendon contracture Verrucae Hodgkin lymphoma Anal stenosis Hypoplasia of the odontoid process Metaphyseal dysplasia Large forehead Metaphyseal cupping Labial hypoplasia Cellular immunodeficiency Metaphyseal chondrodysplasia Thrombocytosis Esophageal atresia Distal arthrogryposis Exocrine pancreatic insufficiency Tracheal stenosis Central apnea Overweight Upper limb undergrowth Aplasia/Hypoplasia affecting the eye Abnormality of the pancreas Aplastic anemia Heart block Fair hair Generalized joint laxity B-cell lymphoma Macroglossia Thickened Achilles tendon Neonatal short-limb short stature Congenital neuroblastoma Generalized hyperpigmentation Ulnar deviation of finger Reduced subcutaneous adipose tissue Spinal dysraphism Congenital hypoplastic anemia Neurodevelopmental delay Large for gestational age Central hypotonia Hypoplastic toenails Lymphangiectasis Hyperglycemia Alveolar rhabdomyosarcoma Heart murmur Abnormal bone ossification Tendon rupture Tracheomalacia Syringomyelia Thick upper lip vermilion Mucopolysacchariduria Large earlobe Abnormality of chromosome stability Bronchiolitis Woolly hair Deep palmar crease Progeroid facial appearance Diaphyseal thickening Barrel-shaped chest Arnold-Chiari type I malformation Megalencephaly Normocytic anemia Fragile nails Hypersplenism Microscopic hematuria Severe postnatal growth retardation Obstructive sleep apnea Neonatal hypoglycemia High hypermetropia Sacral dimple Asymmetric septal hypertrophy Hypopigmentation of the skin Narrow chest Micromelia Short palm Papilloma Bronchomalacia Melena Lymphoma Hypotrichosis Decreased antibody level in blood Abnormality of the ribs Triangular mouth Fine hair Depressed nasal ridge Fetal distress Abnormality of the metaphysis Malabsorption Leukemia Bowing of the long bones Deep plantar creases Abnormal anterior segment morphology Abnormal lymphatic vessel morphology Abnormal atrial septum morphology Aplasia of lymphatic vessels Prominent digit pad Abnormality of the vestibular nerve Splenomegaly Abnormal cardiac septum morphology Immunodeficiency Alopecia Pneumonia Prominent forehead Skeletal dysplasia EEG abnormality Thin nail Limited elbow movement Abnormality of earlobe Tibial bowing Portal hypertension Broad philtrum Reduced tendon reflexes Abnormally ossified vertebrae Disproportionate short-limb short stature Abnormality of pelvic girdle bone morphology Genu varum Metaphyseal widening Hypoplasia of teeth Cone-shaped epiphysis Squamous cell carcinoma Short thorax Mesomelia Femoral bowing Limited elbow extension Basal cell carcinoma Fasting hypoglycemia Concave nail Aganglionic megacolon Short ribs Bronchiectasis Schwannoma Abnormality of epiphysis morphology Rhizomelia Sparse and thin eyebrow Lymphopenia Broad femoral neck Abnormal palate morphology Systolic heart murmur Hypocalcemia Sparse eyelashes Rhabdomyosarcoma Accelerated skeletal maturation Neoplasm of the skin Pneumothorax Poor suck Sparse facial hair Hypoplastic anemia Thick corpus callosum Myofiber disarray Shyness Narrow philtrum Chorioretinal dysplasia Abnormality of dental enamel Morphological abnormality of the inner ear High-pitched cry Prominent eyelashes Narrow palm Enlarged cerebellum Pointed chin Hoarse voice Macrodontia of permanent maxillary central incisor Hydrops fetalis Childhood-onset truncal obesity Hypoplastic philtrum Postprandial hyperglycemia Body odor Hyperpigmentation of the skin Thick hair Bone spicule pigmentation of the retina Abnormality of the larynx Aplasia/Hypoplasia of the earlobes Recurrent aphthous stomatitis Ulnar deviation of the wrist Tapetoretinal degeneration Vitreomacular adhesion Iris atrophy Hemeralopia Macrodontia Bull's eye maculopathy Granulocytopenia Congenital neutropenia Hyperplasia of the maxilla Laryngeal stenosis Chorioretinal dystrophy Cutis gyrata of scalp Cat cry Macrocephaly at birth Furrowed tongue Full cheeks Eczema Overgrowth Deep-set nails Premature birth Vestibular Schwannoma Irritability Frontal hirsutism Ganglioneuroblastoma Apnea Sepsis Transitional cell carcinoma of the bladder Concentric hypertrophic cardiomyopathy Hypopnea Hypermetropia Tachycardia Hematuria Sleep disturbance Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Hypoplasia of dental enamel Pes cavus Slender toe Delayed speech and language development Abnormality of the dentition Long philtrum Absent speech Abnormal heart morphology Atrial fibrillation Osteoporosis Neonatal sepsis Hyperhidrosis Osteopenia Loose anagen hair Abnormality of the nervous system Cardiomyocyte hypertrophy Epidermal acanthosis Bladder carcinoma Choroid plexus papilloma Macular edema Deep venous thrombosis Abnormal T cell morphology Finger syndactyly Thin upper lip vermilion Arthritis Infantile muscular hypotonia Paralysis Nyctalopia Short philtrum Prominent nasal bridge Synophrys Diabetes mellitus Genu valgum Smooth philtrum Acanthosis nigricans Retinal degeneration Iris coloboma Retinal dystrophy Retinal detachment Retrognathia Cerebellar hypoplasia Prominent nose Severe T-cell immunodeficiency Abnormality of the distal phalanx of finger Narrow vertebral interpedicular distance Long fibula Non-Hodgkin lymphoma Metaphyseal dysostosis Impaired lymphocyte transformation with phytohemagglutinin Ascites Biconvex vertebral bodies Obesity Abnormality of humoral immunity Absent pubertal growth spurt Flaring of lower rib cage Susceptibility to chickenpox Pulmonary lymphoma Microphthalmia Relative macrocephaly Hemangioma Microcornea Abnormality of the fingernails Misalignment of teeth Celiac disease Rheumatoid arthritis Constriction of peripheral visual field Hematemesis Cerebral hemorrhage Disproportionate tall stature Truncal obesity Narrow nasal bridge Weak cry Short metatarsal Subcapsular cataract Peripheral visual field loss Posterior subcapsular cataract Gingivitis Duodenal ulcer Microglossia Vocal cord paralysis Facial hypotonia Precocious puberty Reduced number of teeth Progressive visual loss Capillary malformation Pigmentary retinopathy Narrow forehead Decreased fetal movement Short chin High myopia Clumsiness Tall stature Exotropia Bladder neoplasm Progressive microcephaly Preauricular skin tag Low anterior hairline Intellectual disability, progressive Sandal gap Leukopenia Venous thrombosis Recurrent skin infections Abnormal nipple morphology Schizophrenia Aplasia of the semicircular canal Abnormality of the voice Abnormality of the zygomatic bone Hypospadias Abnormality of the kidney Abnormality of the face Spina bifida occulta Melanoma Myelodysplasia Bundle branch block Keratoglobus External genital hypoplasia Abnormality of the ear Decreased fertility Freckling Multiple cafe-au-lait spots Sprengel anomaly Right ventricular hypertrophy Abnormal carotid artery morphology Long palm Abnormal localization of kidney Short palpebral fissure Medial calcification of medium-sized arteries Abnormal atrioventricular valve morphology Medial calcification of small arteries Craniosynostosis Blepharophimosis Hip dislocation Long face Thin skin Median cleft lip and palate Coxa vara Prematurely aged appearance Aortic dissection Esophagitis Myocarditis Abnormal myocardium morphology Avascular necrosis of the capital femoral epiphysis Femoral hernia Wolff-Parkinson-White syndrome Hypoplasia of the ovary Erythematous papule Gliosis Limb muscle weakness Nausea Pulmonary hypoplasia Hepatic steatosis Coma Renal cyst Generalized muscle weakness Increased serum lactate Congenital cataract Waddling gait Cardiomegaly Tetraparesis Pachygyria Heterotopia Renal dysplasia Anorexia Decreased liver function Nausea and vomiting Abnormality of the cerebral white matter Numerous nevi Gait ataxia Pain Fever Tremor Vomiting Headache Depressivity Areflexia Weight loss Lethargy Arthralgia Jaundice Difficulty walking Elevated hepatic transaminase Proximal muscle weakness Myalgia Abnormality of the pinna Abnormality of the liver Premature occlusive vascular stenosis Subretinal fluid Clonus Exercise-induced myoglobinuria Focal segmental glomerulosclerosis Generalized amyotrophy Glomerulopathy Tubular atrophy Scanning speech Steroid-resistant nephrotic syndrome Recurrent myoglobinuria Rapid neurologic deterioration Glomerulonephritis Crescentic glomerulonephritis Scarring Skin rash Papule Pruritus Sudden cardiac death Cerebral calcification Ophthalmoparesis Glomerulosclerosis Nephrocalcinosis Nephropathy Hyperreflexia Cerebellar atrophy Myoclonus Proteinuria Muscular hypotonia of the trunk Abnormal pyramidal sign Hepatic failure Progressive cerebellar ataxia Oculomotor apraxia Memory impairment Bilateral sensorineural hearing impairment Nephrotic syndrome Pancytopenia Status epilepticus Progressive neurologic deterioration Progressive muscle weakness Hypergonadotropic hypogonadism Abnormality of the cardiovascular system Macular degeneration Peau d'orange Civatte bodies Choroidal neovascularization Retinal hemorrhage Intermittent claudication Angioid streaks of the fundus Metamorphopsia Renovascular hypertension Abnormality of connective tissue Accelerated atherosclerosis Pulmonary insufficiency Vascular calcification Subcutaneous calcification Arterial calcification Hyperkeratotic papule Localized skin lesion Generalized arterial calcification Medial calcification of large arteries Peripapillary chorioretinal atrophy Ectopic calcification Arteriosclerosis Atherosclerosis Multiple lipomas Ischemic stroke Acne Hemiplegia/hemiparesis Coronary artery atherosclerosis Hypermelanotic macule Abnormal retinal morphology Chorioretinal atrophy Striae distensae Pulmonary edema Severe vision loss Severe intrauterine growth retardation Drusen Mitral stenosis Abnormality of the cerebral vasculature Peripheral arterial stenosis Angina pectoris Abnormal thrombocyte morphology Leukodystrophy Type I diabetes mellitus Hypoplasia of lymphatic vessels Clinodactyly Lumbar kyphosis Uterine prolapse Bifid sternum Thick nasal septum Abnormality of the nasal alae Drumstick terminal phalanges Midface retrusion Patent ductus arteriosus Pseudoepiphyses of the metacarpals Hepatosplenomegaly Hydronephrosis Broad forehead Abnormal bleeding Wide intermamillary distance Coarctation of aorta Low posterior hairline Retinoschisis Stooped posture Aortic valve stenosis Craniofacial hyperostosis Broad palm Thickened calvaria Atonic seizures Anteriorly placed anus Spinal canal stenosis Acrocyanosis Hypoplastic fingernail Delayed closure of the anterior fontanelle Hyperconvex fingernails Myelopathy Advanced eruption of teeth Rectal prolapse Premature loss of primary teeth Thick nasal alae Narrow iliac wings Broad finger Abnormal tricuspid valve morphology Amblyopia Hypogonadotrophic hypogonadism Broad hallux Abnormal platelet function Prolonged QRS complex Abnormality of the mandible Intestinal lymphangiectasia Unilateral ptosis Prominent fingertip pads Reduced factor VIII activity Pulmonary lymphangiectasia Reduced factor XI activity Chylothorax Reduced factor XII activity Hyperkeratosis pilaris Superior pectus carinatum Prominent nasolabial fold Amegakaryocytic thrombocytopenia Neurofibrosarcoma Puberty and gonadal disorders Abnormal location of ears Abnormality of the lymphatic system Synovitis Abnormality of the urinary system Acute leukemia Bilateral ptosis Myopathic facies Abnormality of coagulation Prolonged bleeding time Cystic hygroma Male infertility Acute lymphoblastic leukemia High anterior hairline Abnormal hair quantity Abnormality of the helix Abnormality of refraction Elevated circulating follicle stimulating hormone level Abnormality of the spleen Thickened helices Elevated circulating luteinizing hormone level Myeloproliferative disorder Enlarged thorax Progressive spasticity Loss of consciousness Pancreatitis Abnormality of the renal tubule Chronic fatigue Organic aciduria Hypoketotic hypoglycemia Exercise-induced myalgia Medulloblastoma Proximal tubulopathy Episodic vomiting Abnormal corpus callosum morphology Ketonuria Loss of ability to walk Acute pancreatitis Respiratory arrest Generalized aminoaciduria Oliguria Progressive spastic quadriplegia Personality disorder Excessive daytime somnolence Progressive proximal muscle weakness Nonketotic hypoglycemia Back pain Spastic tetraparesis Hyperammonemia Mutism Poor head control Easy fatigability Slurred speech Polycystic kidney dysplasia Hemiplegia Ketosis Stridor Ventricular fibrillation Restrictive ventilatory defect Difficulty climbing stairs Glycosuria Acute kidney injury Fatigable weakness Drowsiness Hypoglycemic coma Impaired mastication Emphysema Psychosis Intellectual disability, severe Hypertonia Mental deterioration Short distal phalanx of finger Everted lower lip vermilion Delayed eruption of teeth Hypodontia Cerebellar vermis hypoplasia Peripheral neuropathy Widely spaced teeth Aplasia/Hypoplasia of the corpus callosum Sleep apnea Prominent supraorbital ridges Self-injurious behavior Aplasia/Hypoplasia of the cerebellum Large hands Abnormality of neuronal migration Hypoplasia of the corpus callosum Abnormality of blood glucose concentration Limb tremor Elevated plasma acylcarnitine levels Renal cortical cysts Narcolepsy Gastrointestinal inflammation Arthralgia of the hip Glutaric acidemia Increased muscle lipid content Ketotic hypoglycemia Reduced protein C activity Electron transfer flavoprotein-ubiquinone oxidoreductase defect Reye syndrome-like episodes Ethylmalonic aciduria Hypersarcosinemia Fatigable weakness of distal limb muscles Fatigable weakness of neck muscles Abnormality of branched chain family amino acid metabolism Defective dehydrogenation of isovaleryl CoA and butyryl CoA Hepatic periportal necrosis Increased corneal curvature



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Hepatic failure, related diseases and genetic alterations Delayed speech and language development and Joint hyperflexibility, related diseases and genetic alterations Hydrocephalus and Dysphagia, related diseases and genetic alterations Skeletal muscle atrophy and Stroke, related diseases and genetic alterations

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