Cardiomyopathy, and Anorexia

Diseases related with Cardiomyopathy and Anorexia

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


Top matches:

Medium match CYCLIC VOMITING SYNDROME; CVS


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about CYCLIC VOMITING SYNDROME; CVS

Medium match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-


Vitamin B12-unresponsive methylmalonic acidemia type mut- is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT- Is also known as vitamin b12-unresponsive methylmalonic aciduria type mut-|partial deficiency of methylmalonyl-coa mutase

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT-

Medium match TAKAYASU ARTERITIS


Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

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Other less relevant matches:

Medium match THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME


Thiamine-responsive megaloblastic anemia (TRMA) is characterized by a triad of megaloblastic anemia, non-type I diabetes mellitus, and sensorineural deafness.

THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME Is also known as thmd1|trma|thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness|rogers syndrome|thiamine-responsive myelodysplasia|thiamine metabolism dysfunction syndrome 1 (megaloblastic anemia, diabetes mellitus, and deafness type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about THIAMINE-RESPONSIVE MEGALOBLASTIC ANEMIA SYNDROME

Medium match HERMANSKY-PUDLAK SYNDROME 1; HPS1


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes (Oh et al., 1998). Genetic Heterogeneity of Hermansky-Pudlak SyndromeHPS2 (OMIM ) is caused by mutation in the AP3B1 gene (OMIM ) on chromosome 5q14. HPS3 (OMIM ) is caused by mutation in the HSP3 gene (OMIM ) on chromosome 3q24. HPS4 (OMIM ) is caused by mutation in the HSP4 gene (OMIM ) on chromosome 22q12. HPS5 (OMIM ) is caused by mutation in the HPS5 gene (OMIM ) on chromosome 11p14. HPS6 (OMIM ) is caused by mutation in the HPS6 gene (OMIM ) on chromosome 10q24. HPS7 (OMIM ) is caused by mutation in the DTNBP1 gene (OMIM ) on chromosome 6p22. HPS8 (OMIM ) is caused by mutation in the BLOC1S3 gene (OMIM ) on chromosome 19q13. HPS9 (OMIM ) is caused by mutation in the PLDN gene (OMIM ) on chromosome 15q21. HPS10 (OMIM ) is caused by mutation in the AP3D1 gene (OMIM ) on chromosome 19p13.

HERMANSKY-PUDLAK SYNDROME 1; HPS1 Is also known as delta storage pool disease|albinism with hemorrhagic diathesis and pigmented reticuloendothelial cells

Related symptoms:

  • Nystagmus
  • Strabismus
  • Cataract
  • Visual impairment
  • Myopia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HERMANSKY-PUDLAK SYNDROME 1; HPS1

Medium match LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY


Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD) is a mitochondrial disorder of long chain fatty acid oxidation characterized in most patients by onset in infancy/ early childhood with hypoketotic hypoglycemia, metabolic acidosis, liver disease, hypotonia and frequently cardiac involvement with arrhythmias and/or cardiomyopathy.

LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY Is also known as lchad deficiency|long-chain 3-hydroxyacyl-coenzyme a dehydrogenase deficiency|lchadd

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about LONG CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE DEFICIENCY

Medium match CAMURATI-ENGELMANN DISEASE


Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability.

CAMURATI-ENGELMANN DISEASE Is also known as diaphyseal dysplasia 1, progressive|engelmann disease|progressive diaphyseal dysplasia|dpd1|ced|pdd

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Muscle weakness
  • Abnormal facial shape


SOURCES: OMIM ORPHANET MENDELIAN

More info about CAMURATI-ENGELMANN DISEASE

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 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 MELAS


MELAS (Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke) syndrome is a rare progressive multisystemic disorder characterized by encephalomyopathy, lactic acidosis, and stroke-like episodes. Other features include endocrinopathy, heart disease, diabetes, hearing loss, and neurological and psychiatric manifestations.

MELAS Is also known as mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes|melas syndrome|mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MELAS

Top 5 symptoms//phenotypes associated to Cardiomyopathy and Anorexia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Fatigue Common - Between 50% and 80% cases
Hypertrophic cardiomyopathy Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Pain Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Abdominal pain

Uncommon Symptoms - Between 30% and 50% cases


Headache

Common Symptoms - More than 50% cases


Anemia

Uncommon Symptoms - Between 30% and 50% cases


Nausea Nausea and vomiting Lethargy Vomiting Hepatomegaly Optic atrophy Diarrhea Intellectual disability Muscular hypotonia Fever Muscle weakness Ataxia Hearing impairment Congestive heart failure Exercise intolerance Renal insufficiency Stroke Arrhythmia Coma Feeding difficulties Hypertension Weight loss Failure to thrive Myalgia Easy fatigability Myopathy Vertigo Photophobia Cataract Dyspnea Nystagmus Peripheral neuropathy Abnormality of the renal tubule Elevated serum creatine phosphokinase Jaundice Abnormality of the liver Hemiplegia Left ventricular hypertrophy Muscle cramps Short stature Dilated cardiomyopathy Cardiac arrest Sensorineural hearing impairment Rhabdomyolysis Respiratory insufficiency Visual loss Malabsorption Hypoglycemia Paresthesia Depressivity Gait disturbance Delayed puberty Polyneuropathy Neurological speech impairment Reduced consciousness/confusion Neutropenia Cognitive impairment Behavioral abnormality Pancreatitis Respiratory distress Dysarthria Hyperhidrosis Arthralgia Motor delay Strabismus Microcephaly Migraine Generalized hypotonia

Rare Symptoms - Less than 30% cases


Hypogonadism Kyphosis Personality changes Mandibular prognathia Tubulointerstitial nephritis Difficulty walking Proximal muscle weakness Abnormality of the nervous system Feeding difficulties in infancy Ischemic stroke Carious teeth Purpura Waddling gait Tinnitus Hyperlordosis Gastrointestinal inflammation Skeletal muscle atrophy Pigmentary retinopathy Macrocephaly Atrioventricular block Elevated hepatic transaminase Nyctalopia Peripheral axonal neuropathy Hepatic steatosis Metabolic acidosis Abnormality of retinal pigmentation Abnormality of acid-base homeostasis Decreased liver function Loss of consciousness Multiple lipomas Hypoketotic hypoglycemia Bundle branch block Elevated plasma acylcarnitine levels Reye syndrome-like episodes Cachexia Tremor Elevated erythrocyte sedimentation rate Cardiorespiratory arrest Type I diabetes mellitus Ragged-red muscle fibers Mutism Pruritus Glycosuria Drowsiness Restrictive ventilatory defect Transient ischemic attack Chronic fatigue Increased serum lactate Proximal tubulopathy Episodic vomiting Dysesthesia Constipation Hypothyroidism Anxiety Proteinuria Developmental regression Clonus Xerostomia Abnormality of femur morphology Areflexia Limb pain Renal tubular dysfunction Dysphagia Atrial fibrillation Ventricular hypertrophy Edema Encephalopathy Nephrotic syndrome Gait ataxia Lactic acidosis Acidosis Progressive sensorineural hearing impairment Abnormality of the cardiovascular system Sudden cardiac death Abnormality of the pinna Abnormality of the cerebral white matter Congenital cataract Glomerulopathy Nephropathy Abnormality of visual evoked potentials Abnormal facial shape Chronic kidney disease Aortic regurgitation Thrombocytopenia Aminoaciduria Abnormal lung morphology Abnormal aortic valve morphology Bilateral sensorineural hearing impairment Hyperammonemia Dilatation Arthritis Retinopathy Chest pain Immunodeficiency Hypopigmentation of the skin Visual impairment Pulmonary arterial hypertension Myocardial infarction Amaurosis fugax Subcutaneous nodule Abnormal endocardium morphology Hyperkeratosis Myopia Gangrene Cerebral ischemia Splenomegaly Amenorrhea Growth delay Diabetes mellitus Abnormal heart valve morphology Autism Pallor Gastroesophageal reflux Retinal dystrophy Attention deficit hyperactivity disorder Aciduria Vasculitis Dystonia Blindness Abnormal autonomic nervous system physiology Gastrointestinal dysmotility Abnormality of mitochondrial metabolism Paralytic ileus Hyposthenuria Nephrogenic diabetes insipidus Impaired temperature sensation Decreased glomerular filtration rate Obstructive lung disease Abnormal mitochondrial shape Increased blood urea nitrogen Abnormality of temperature regulation Abnormal cochlea morphology Angiokeratoma Retinal vascular tortuosity Decreased female libido Vascular skin abnormality Corneal crystals Vascular tortuosity Distal renal tubular acidosis Reduced sperm motility Cochlear malformation Shortened QT interval Abnormality of glycosphingolipid metabolism Acroparesthesia Abnormal macular morphology Spotty hypopigmentation Heavy proteinuria Tenesmus Paronychia Left ventricular septal hypertrophy Tortuosity of conjunctival vessels Abnormal mitochondrial morphology Hyperkeratotic papule Abnormality of the forehead Edema of the dorsum of hands Cochlear degeneration Impaired renal concentrating ability Functional abnormality of the gastrointestinal tract ST segment depression Unexplained fevers Mucosal telangiectasiae Concentric hypertrophic cardiomyopathy Coronary artery stenosis Shortened PR interval Decreased lacrimation Angiokeratoma corporis diffusum Progressive night blindness Homonymous hemianopia T-wave inversion Abnormality of cardiovascular system physiology Celiac disease Tubular atrophy Elevated serum creatinine Edema of the lower limbs Bilateral intracranial calcifications Abnormal EKG Abnormality of lipid metabolism Aortic root aneurysm Wheezing Renal tubular acidosis Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Telangiectasia of the skin Orthostatic hypotension Oligospermia Interstitial pulmonary abnormality Coronary artery atherosclerosis Impotence Emphysema Anhidrosis Polyuria Diabetes insipidus Tricuspid regurgitation Impaired vibratory sensation Clubbing Heart murmur Polydipsia Glomerulosclerosis Abnormality of the gastrointestinal tract Large earlobe Biventricular hypertrophy Asymmetric septal hypertrophy Primary hypothyroidism Microalbuminuria Conjunctival telangiectasia Supraventricular arrhythmia Abnormal cornea morphology Abnormal thrombosis Tubulointerstitial fibrosis Chronic pain Abnormal renal physiology Miosis Abnormal common carotid artery morphology Periorbital fullness Abnormal mitral valve morphology High-frequency hearing impairment Episodic quadriplegia Abnormal myocardium morphology Restrictive cardiomyopathy Abnormality of the nose Myocardial fibrosis Sinus bradycardia Achalasia Chronic obstructive pulmonary disease Angina pectoris Clubbing of fingers Peripheral arterial stenosis Reduced ejection fraction Heat intolerance Supraventricular tachycardia Hemeralopia Atopic dermatitis Abnormal ST segment Schizophrenia Gait imbalance Intestinal obstruction Ophthalmoparesis Hyponatremia Aortic aneurysm Anterior hypopituitarism Bilateral ptosis Stroke-like episode Hypercalciuria Decreased nerve conduction velocity Seborrheic dermatitis Growth abnormality Hyperkinesis Goiter Hypopigmented skin patches Aplasia/Hypoplasia of the cerebellum Left ventricular failure Reduced tendon reflexes External ophthalmoplegia Macular degeneration Hypogonadotrophic hypogonadism Generalized hirsutism Abnormality of the hand EMG abnormality Speech apraxia Truncal ataxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Cerebral visual impairment Hallucinations Wolff-Parkinson-White syndrome Increased CSF lactate Ileus Aphasia Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Hyperthyroidism Basal ganglia calcification Neonatal hypoglycemia Vertebral fusion Prolonged QT interval Visual field defect Hyperkalemia Dysphasia Vestibular dysfunction Adrenal insufficiency Bifid scrotum Posterior subcapsular cataract Mask-like facies Visual hallucinations Hemiplegia/hemiparesis Aortic dissection Facial diplegia Delusions Progressive external ophthalmoplegia Overlapping toe Mitochondrial myopathy Hypoparathyroidism Focal segmental glomerulosclerosis Heart block Vitiligo Abnormality of neuronal migration Gingival overgrowth Decreased body weight Crohn's disease Hypertonia Protruding ear Mental deterioration Apnea EEG abnormality Cerebral cortical atrophy Renal Fanconi syndrome Osteoporosis Myoclonus Dementia Rod-cone dystrophy Cerebellar hypoplasia Delayed skeletal maturation Hyporeflexia Cerebral atrophy Abnormality of the dentition Generalized tonic-clonic seizures Cerebellar atrophy Short neck Ventriculomegaly Hyperreflexia Ptosis Hypertelorism Cornea verticillata Abnormal glomerular filtration rate Abnormality of the common coagulation pathway Increased glomerular filtration rate Tubulointerstitial abnormality Hashimoto thyroiditis Abnormality of the cerebellar vermis Increased carotid artery intimal medial thickness Erythema Arthrogryposis multiplex congenita Involuntary movements Specific learning disability Hypertrichosis Hemianopia Motor polyneuropathy Psychomotor deterioration Hemiparesis Muscle fiber atrophy Writer's cramp Psychosis Status epilepticus Persistence of primary teeth Leber optic atrophy Type II diabetes mellitus Generalized-onset seizure Cerebral calcification Spontaneous hematomas Ophthalmoplegia Gastroparesis Anal atresia Abnormal nerve conduction velocity Dysmetria Confusion Auditory hallucinations Ichthyosis Polymicrogyria Hip dysplasia Hirsutism Postural instability Abnormal cerebellum morphology Generalized myoclonic seizures Sensory impairment Memory impairment Psychotic episodes Myoglobinuria Prominent supraorbital ridges Sensorimotor neuropathy Posterior staphyloma Acute hepatic steatosis Abnormal chorioretinal morphology Hepatic encephalopathy Abnormal left ventricle morphology Decreased plasma carnitine Cholestatic liver disease Recurrent hypoglycemia Preeclampsia Chorioretinal atrophy Abnormal electroretinogram Tachypnea Hypocalcemia Exotropia 3-hydroxydicarboxylic aciduria Peripheral demyelination Brain atrophy Hepatic failure Abnormality of metabolism/homeostasis Freckles in sun-exposed areas Menometrorrhagia Partial albinism Squamous cell carcinoma of the skin Impaired platelet aggregation Abnormal thrombocyte morphology Ulcerative colitis Abnormality of the optic nerve Hematochezia Decreased activity of 3-hydroxyacyl-CoA dehydrogenase Scoliosis Gingival bleeding Lumbar hyperlordosis Aplasia/Hypoplasia of the radius Abnormality of the vertebral column Metaphyseal dysplasia Reduced subcutaneous adipose tissue Hyperostosis Abnormality of pelvic girdle bone morphology Increased intracranial pressure Leukopenia Coxa valga Bone marrow hypocellularity Increased bone mineral density Bone pain Diplopia Limitation of joint mobility Flexion contracture Delayed eruption of teeth Sensory neuropathy Genu valgum Muscular dystrophy Paralysis Facial palsy Hepatosplenomegaly Pes planus Skeletal dysplasia Proptosis Glaucoma Hyperactivity Frontal bossing Ocular albinism Severe vision loss Abnormality of the skull Cryptorchidism Hyperglycemia Myelodysplasia Polycystic ovaries Cone/cone-rod dystrophy Hoarse voice Situs inversus totalis Pancytopenia Abnormality of the skin Retinal degeneration Abnormal cardiac septum morphology Abnormal heart morphology Atrial septal defect Ventricular septal defect Increased inflammatory response Macrocytic anemia Hypertensive crisis Arteritis Gastrointestinal infarctions Ascending tubular aorta aneurysm Arterial stenosis Abnormal pattern of respiration Inflammatory abnormality of the eye Hemoptysis Psoriasiform dermatitis Skin ulcer Choreoathetosis Dehydration Abnormality of movement Secondary amenorrhea Megaloblastic anemia Iris hypopigmentation Amblyopia Hypopigmentation of hair Freckling Colitis Prolonged bleeding time Basal cell carcinoma Pulmonary fibrosis Albinism Inflammation of the large intestine Melanocytic nevus Melanoma Acanthosis nigricans Abnormality of dental enamel Abnormality of the hair Long eyelashes Abdominal situs inversus Thickened skin Epistaxis Epidermal acanthosis Gastrointestinal hemorrhage Nevus Abnormal bleeding Bruising susceptibility Astigmatism Recurrent infections Thiamine-responsive megaloblastic anemia Paroxysmal atrial tachycardia Progressive peripheral neuropathy Sideroblastic anemia Abnormality of the basal ganglia Poor appetite Raynaud phenomenon Ventricular arrhythmia Ketotic hypoglycemia Coarse facial features Posteriorly rotated ears Midface retrusion Abnormality of blood glucose concentration Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hepatic periportal necrosis Defective dehydrogenation of isovaleryl CoA and butyryl CoA Abnormality of branched chain family amino acid metabolism Fatigable weakness of neck muscles Fatigable weakness of distal limb muscles Hypersarcosinemia Ethylmalonic aciduria Reduced protein C activity Increased muscle lipid content Abnormality of the kidney Glutaric acidemia Arthralgia of the hip Narcolepsy Cataplexy Renal cortical cysts Limb tremor Impaired mastication Nonketotic hypoglycemia Hypoglycemic coma Personality disorder Progressive spastic quadriplegia Glutaric aciduria Oliguria Carcinoma Skin rash Respiratory arrest Thick lower lip vermilion Reduced bone mineral density Corneal dystrophy Progressive hearing impairment Abnormal intestine morphology Ventricular tachycardia Hyperlipidemia Spontaneous abortion Fasciculations Bradycardia Lymphedema Hypohidrosis Mitral regurgitation Palpitations Mitral valve prolapse Cough Hypotension Urinary incontinence Syncope Abdominal distention Hematuria Thick vermilion border Thick eyebrow Bulbous nose Tachycardia Stage 5 chronic kidney disease Papule Corneal opacity Prominent nasal bridge Generalized aminoaciduria Acute pancreatitis Abnormality of the ulna Diaphyseal dysplasia Limb muscle weakness Respiratory tract infection Telecanthus High forehead Respiratory failure Depressed nasal bridge Spasticity Elevated aldolase level Abnormal subcutaneous fat tissue distribution Cortical thickening of long bone diaphyses Cortical sclerosis Craniofacial osteosclerosis Optic nerve compression Diaphyseal sclerosis Pulmonary hypoplasia Cranial nerve compression Abnormality of the radius Cranial hyperostosis Sclerosis of skull base Lower limb pain Abnormal diaphysis morphology Urinary retention Abnormality of the humerus Otosclerosis Extramedullary hematopoiesis Abnormality of tibia morphology Slender build Facial paralysis Joint hyperflexibility Renal cyst Loss of ability to walk Back pain Abnormal corpus callosum morphology Medulloblastoma Exercise-induced myalgia Organic aciduria Excessive daytime somnolence Ketonuria Progressive proximal muscle weakness Ketosis Fatigable weakness Acute kidney injury Difficulty climbing stairs Ventricular fibrillation Stridor Polycystic kidney dysplasia Tetraplegia Slurred speech Poor head control Spastic tetraparesis Scapular winging Leukodystrophy Wide anterior fontanel Renal dysplasia Heterotopia Pachygyria Abnormality of the genital system Tetraparesis Cardiomegaly Gliosis Generalized muscle weakness Prominent ear helix



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Tall stature, related diseases and genetic alterations Congestive heart failure and Astigmatism, related diseases and genetic alterations Hyperreflexia and Ulcerative colitis, related diseases and genetic alterations Delayed speech and language development and Hyperhidrosis, related diseases and genetic alterations

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