Congestive heart failure, and Irritability

Diseases related with Congestive heart failure and Irritability

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


Top matches:

High match ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA


Acquired idiopathic sideroblastic anaemia is one of a group of disorders known as the myelodysplastic syndromes (MDS) characterised by ineffective haemopoiesis affecting one or more blood cell lineages (myeloid, erythroid or megakaryocytic) leading to peripheral blood cytopenias and an increased risk of developing leukaemia. Acquired idiopathic sideroblastic anaemia is now more commonly referred to as refractory anaemia with ringed sideroblasts or the acronym RARS.

ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA Is also known as rars|primary acquired sideroblastic anemia|refractory anemia with ringed sideroblasts|aisa

Related symptoms:

  • Pain
  • Anemia
  • Fatigue
  • Respiratory distress
  • Congestive heart failure


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACQUIRED IDIOPATHIC SIDEROBLASTIC ANEMIA

High match ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD


Inborn errors of mitochondrial fatty acid beta-oxidation include medium-chain acyl-CoA dehydrogenase deficiency (OMIM ), short-chain acyl-CoA dehydrogenase deficiency (OMIM ), and very long-chain acyl-CoA dehydrogenase deficiency.VLCAD deficiency can be classified clinically into 3 forms: a severe early-onset form with high incidence of cardiomyopathy and high mortality; an intermediate form with childhood onset, usually with hypoketotic hypoglycemia and more favorable outcome; and an adult-onset, myopathic form with isolated skeletal muscle involvement, rhabdomyolysis, and myoglobinuria after exercise or fasting (Andresen et al., 1999).Patients reported with long-chain acyl-CoA dehydrogenase (LCAD) deficiency before VLCAD deficiency was defined were later found to have VLCAD deficiency (Strauss et al., 1995; Roe and Ding, 2001).

ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD Is also known as vlcad deficiency

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about ACYL-COA DEHYDROGENASE, VERY LONG-CHAIN, DEFICIENCY OF; ACADVLD

High match SYSTEMIC PRIMARY CARNITINE DEFICIENCY


Systemic primary carnitine deficiency (SPCD) is a potentially lethal disorder of fatty acid oxidation characterized classically by early childhood onset cardiomyopathy often with weakness and hypotonia, failure to thrive and recurrent hypoglycemic hypoketotic seizures and/or coma.

SYSTEMIC PRIMARY CARNITINE DEFICIENCY Is also known as cud|carnitine uptake deficiency|carnitine transporter defect|systemic carnitine deficiency|deficiency of plasma-membrane carnitine transporter|scd|carnitine deficiency, primary|carnitine deficiency, systemic, due to defect in renal reabsorption of carniti

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SYSTEMIC PRIMARY CARNITINE DEFICIENCY

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Other less relevant matches:

High match KAWASAKI DISEASE


Kawasaki disease (KD) is a febrile, systemic, self-limiting vasculitis affecting children and characterized by inflammation in the medium sized vessels associated with coronary arterial aneurysms (CAA) that may be life threatening when untreated. KD is the most common cause of acquired heart disease in children in developed countries and is a risk factor for ischemic heart disease in adulthood.

KAWASAKI DISEASE Is also known as kd|infantile polyarteritis|mucocutaneous lymph node syndrome

Related symptoms:

  • Sensorineural hearing impairment
  • Ptosis
  • Fever
  • Fatigue
  • Edema


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about KAWASAKI DISEASE

High match ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY


Mitochondrial complex II deficiency is an autosomal recessive disorder with a highly variable phenotype. Some patients have multisystem involvement of the brain, heart, muscle, liver, and kidneys resulting in death in infancy, whereas others have only isolated cardiac or muscle involvement with onset in adulthood and normal cognition. Measurement of complex II activity in muscle is the most reliable means of diagnosis; however, there is no clear correlation between residual complex II activity and severity or clinical outcome. In some cases, treatment with riboflavin may have clinical benefit (summary by Jain-Ghai et al., 2013).

ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY Is also known as isolated succinate-ubiquinone reductase deficiency|isolated succinate-coenzyme q reductase deficiency|isolated mitochondrial respiratory chain complex ii deficiency|succinate coq reductase deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ISOLATED SUCCINATE-COQ REDUCTASE DEFICIENCY

High match TUBEROUS SCLEROSIS 1; TSC1


Tuberous sclerosis complex (TSC) is an autosomal dominant multisystem disorder characterized by hamartomas in multiple organ systems, including the brain, skin, heart, kidneys, and lung. Central nervous system manifestations include epilepsy, learning difficulties, behavioral problems, and autism. Renal lesions, usually angiomyolipomas, can cause clinical problems secondary to hemorrhage or by compression and replacement of healthy renal tissue, which can cause renal failure. Patients can also develop renal cysts and renal-cell carcinomas. Pulmonary lymphangioleiomyomatosis can develop in the lungs. Skin lesions include melanotic macules, facial angiofibromas, and patches of connective tissue nevi. There is a wide clinical spectrum, and some patients may have minimal symptoms with no neurologic disability (reviews by Crino et al., 2006 and Curatolo et al., 2008). Genetic Heterogeneity of Tuberous SclerosisSee also tuberous sclerosis-2 (OMIM ), which is caused by mutation in the TSC2 gene (OMIM ) on chromosome 16p13.Approximately 10 to 30% of cases of tuberous sclerosis are due to mutations in the TSC1 gene: the frequency of cases due to mutations in the TSC2 gene is consistently higher. TSC2 mutations are associated with more severe disease (Crino et al., 2006) (see GENOTYPE/PHENOTYPE CORRELATIONS section).

TUBEROUS SCLEROSIS 1; TSC1 Is also known as tuberous sclerosis complex|ts|tuberose sclerosis|tsc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Neoplasm
  • Pain
  • Hypertension


SOURCES: OMIM MENDELIAN

More info about TUBEROUS SCLEROSIS 1; TSC1

High match ISOLATED COMPLEX I DEFICIENCY


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

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

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about ISOLATED COMPLEX I DEFICIENCY

High match GAUCHER DISEASE TYPE 2


Gaucher disease type 2 is the acute neurological form of Gaucher disease (GD; see this term). It is characterized by early-onset and severe neurological involvement of the brainstem, associated with an organomegaly and generally leading to death before the age of 2.

GAUCHER DISEASE TYPE 2 Is also known as infantile cerebral gaucher disease|acute neuronopathic gaucher disease

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about GAUCHER DISEASE TYPE 2

High match FANCONI ANEMIA


Fanconi anemia (FA) is a hereditary DNA repair disorder characterized by progressive pancytopenia with bone marrow failure, variable congenital malformations and predisposition to develop hematological or solid tumors.

FANCONI ANEMIA Is also known as fanconi pancytopenia|fanconi anemia|fa

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about FANCONI ANEMIA

Medium match ALSTRÖM SYNDROME


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

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

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

Symptoms // Phenotype % cases
Fatigue Common - Between 50% and 80% cases
Vomiting Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Respiratory distress Common - Between 50% and 80% cases
Failure to thrive Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Hepatomegaly Pain Cardiomegaly Hypertrophic cardiomyopathy Cardiomyopathy Generalized hypotonia Encephalopathy Global developmental delay Ataxia Anemia Dystonia Nystagmus Myoclonus Respiratory failure Hepatic steatosis Growth delay Lethargy Dilated cardiomyopathy Ptosis Respiratory tract infection Fever Hypoglycemia Visual impairment Abdominal pain Intellectual disability Hepatosplenomegaly Renal insufficiency Muscle weakness Pallor Strabismus Myopathy Headache Sensorineural hearing impairment Cyanosis Edema Abnormal facial shape Dilatation Jaundice Lymphadenopathy Abnormality of the liver Short stature Microcephaly Patent ductus arteriosus Intrauterine growth retardation Left ventricular hypertrophy Diarrhea Motor delay Spasticity Retinopathy Pigmentary retinopathy Hypothyroidism Dyspnea Ophthalmoplegia Abnormality of the kidney Cough Developmental regression Hyperreflexia Nausea Brain atrophy Scoliosis Hearing impairment Blindness Dysphagia Optic atrophy Generalized myoclonic seizures Hepatic failure Feeding difficulties in infancy Feeding difficulties Elevated hepatic transaminase Acidosis Myalgia Autistic behavior Coma Decreased liver function Cardiac arrest Exercise intolerance Tachypnea Hyperammonemia Pericardial effusion Autism Atrial septal defect Muscular hypotonia Behavioral abnormality Recurrent respiratory infections

Rare Symptoms - Less than 30% cases


Chest pain Decreased plasma carnitine Hypergonadotropic hypogonadism Flexion contracture Cognitive impairment Rhabdomyolysis Hypogonadism Wolff-Parkinson-White syndrome Cardiorespiratory arrest Hypoketotic hypoglycemia Thrombocytopenia Gliosis Hyperventilation Abnormality of eye movement Specific learning disability Gastroesophageal reflux Abnormal renal morphology Axial dystonia Umbilical hernia CSF pleocytosis Abnormal mitochondria in muscle tissue Acute pancreatitis Precocious puberty Ketonuria Cataract Neoplasm Metabolic acidosis Stage 5 chronic kidney disease Leukodystrophy Cholelithiasis Ventricular hypertrophy Increased serum lactate Postnatal growth retardation Kyphosis Splenomegaly Lactic acidosis Insulin resistance Oral-pharyngeal dysphagia Proximal muscle weakness Portal hypertension Weight loss Diabetes mellitus Dementia Babinski sign Ragged-red muscle fibers Ascites Hypertonia Easy fatigability Apnea Hyperactivity Hypertension Proteinuria Cholestasis Mitral regurgitation Pulmonary arterial hypertension Hepatitis Migraine Pes planus Respiratory insufficiency Glucose intolerance Skin rash Pancreatitis Horizontal nystagmus Hydroureter Aspiration Hyporeflexia Pneumonia Sleep disturbance Recurrent urinary tract infections Optic disc pallor Hyperinsulinemia Kyphoscoliosis Hypopigmentation of the skin Abnormality of the eye Pancytopenia Cirrhosis Stroke Aspiration pneumonia Pericarditis Hydrocephalus Elevated C-reactive protein level Anorexia Elevated serum creatine phosphokinase Thickened skin Leukoencephalopathy Myocarditis Tubulointerstitial nephritis Tachycardia Cranial nerve paralysis Poor eye contact Interstitial pulmonary abnormality Carcinoma Endocardial fibroelastosis Micrognathia Hyponatremia Cafe-au-lait spot Increased serum ferritin Peripheral neuropathy Leukopenia Abnormality of the dentition Obesity Pyridoxine-responsive sideroblastic anemia Short neck Abnormality of the preputium Delayed speech and language development Hyperhidrosis Neutropenia Retinal dystrophy Dry skin Retinal degeneration Bruising susceptibility Abnormality of skin pigmentation Vertigo Hirsutism Nephropathy Delayed puberty Astigmatism Abdominal distention Asthma Vesicoureteral reflux Urinary incontinence Round face Gastrointestinal hemorrhage Infertility Carious teeth Depressivity Photophobia Clinodactyly Visual loss Constipation Alopecia Rod-cone dystrophy Polydactyly Hyperkeratosis Deeply set eye Pulmonic stenosis Conductive hearing impairment Sparse hair Scarring Nyctalopia Generalized tonic-clonic seizures Hypotrichosis Hypermetropia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the iris Aplasia/Hypoplasia of the uvula Acute myeloid leukemia Oligohydramnios Hypoplasia of the ulna Squamous cell carcinoma Ectopic kidney Absent thumb Myeloid leukemia Multiple cafe-au-lait spots Abnormality of blood and blood-forming tissues Triphalangeal thumb Absent radius Aplasia/Hypoplasia of the radius Irregular hyperpigmentation External ear malformation Hearing abnormality Chromosome breakage Abnormal eyelid morphology Tracheoesophageal fistula Short palpebral fissure Arteriovenous malformation Azoospermia Telangiectasia Short thumb Abnormal vertebral morphology Spina bifida Bone marrow hypocellularity Horseshoe kidney Type I diabetes mellitus Renal hypoplasia/aplasia Myelodysplasia Hypopigmented skin patches Reduced bone mineral density Abnormality of vision Abnormality of the urinary system Aganglionic megacolon Abnormality of the genital system Choanal atresia Abnormality of the ulna B-cell lymphoma Neoplasm of head and neck Hypoplastic anemia Meckel diverticulum Low-grade fever Complete duplication of thumb phalanx Partial duplication of thumb phalanx Clubbing of toes Decreased fertility in males Chromosomal breakage induced by crosslinking agents Absent testis Renal agenesis Compensated hypothyroidism Almond-shaped palpebral fissure Abnormal carotid artery morphology Prolonged G2 phase of cell cycle Lymphoma Anemic pallor Deficient excision of UV-induced pyrimidine dimers in DNA Duplicated collecting system Tetralogy of Fallot Abnormality of the upper limb Abnormality of the hypothalamus-pituitary axis Aplastic anemia Abnormality of the uterus Abnormality of the testis Abnormality of the thumb Bicornuate uterus Abnormality of femur morphology Acute monocytic leukemia Abnormal aortic valve morphology Sloping forehead Abnormal localization of kidney Abnormality of chromosome stability Reticulocytopenia Abnormal aortic morphology Abnormality of nervous system morphology Growth hormone deficiency Duodenal stenosis Primary hypothyroidism Glomerulopathy Otitis media Hematemesis Hepatic encephalopathy Abnormality of female external genitalia Multinodular goiter Bull's eye maculopathy Vertical nystagmus Increased total bilirubin Frontal balding Melena Achromatopsia First degree atrioventricular block Abnormality of the optic disc Decreased glomerular filtration rate Abnormal spermatogenesis Chronic infection Abnormality of the urethra Lumbar scoliosis Urethral stenosis Chills Epigastric pain Menstrual irregularities Chronic fatigue Chronic obstructive pulmonary disease Esophageal varix Restrictive cardiomyopathy High-frequency hearing impairment Ovarian cyst Decreased HDL cholesterol concentration Retinal pigment epithelial atrophy Pyelonephritis Disinhibition Abnormal renal physiology Abnormal left ventricle morphology Testicular atrophy Tubulointerstitial fibrosis Arteriosclerosis Urinary retention Poor fine motor coordination Abnormality of dental color Abnormal chorioretinal morphology Male hypogonadism Recurrent cystitis Hyperostosis frontalis interna Receptive language delay Granular macular appearance Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Glue ear Widely-spaced incisors Abnormal adipose tissue morphology Abnormal retinal artery morphology Precocious puberty in females EEG with occipital slowing Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Chronic active hepatitis Nonproductive cough Urethral stricture Abnormality of the pituitary gland Impaired temperature sensation Female hypogonadism Abnormal muscle tone Albuminuria Renovascular hypertension Squared iliac bones Urethral obstruction Hypoplastic male external genitalia Exudative retinopathy Hepatic necrosis Chronic hepatic failure Facial hirsutism ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Increased circulating androgen level Myocardial fibrosis Oligospermia Decreased testicular size Abnormality of the hand Acanthosis nigricans Atherosclerosis Hyperlipidemia Hypercholesterolemia Cone/cone-rod dystrophy Goiter Polycystic ovaries Elevated alkaline phosphatase Accelerated skeletal maturation Lipodystrophy Polydipsia Nephritis Chronic otitis media Obsessive-compulsive behavior Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Macular degeneration Absence seizures Acne Abnormality of retinal pigmentation Progressive visual loss Type II diabetes mellitus Epidermal acanthosis Hypertriglyceridemia Recurrent otitis media Involuntary movements Chronic diarrhea Hepatic fibrosis Nephrocalcinosis Hyperpigmentation of the skin Sinusitis Gynecomastia Short toe Recurrent pneumonia Increased body weight Generalized hirsutism Hypogonadotrophic hypogonadism Impaired vibratory sensation Hyperostosis Tubular atrophy Posterior subcapsular cataract Hypoventilation Insulin-resistant diabetes mellitus Retinal atrophy Peripheral visual field loss Alopecia of scalp Poor coordination Oligomenorrhea Broad foot Autoimmune thrombocytopenia Ketoacidosis Gingivitis Pendular nystagmus Attenuation of retinal blood vessels Right ventricular hypertrophy Elevated serum creatinine Acute hepatic failure Recurrent bronchitis Severe sensorineural hearing impairment Thoracic scoliosis Hyperglycemia Chorioretinal atrophy Diabetes insipidus Polyuria Emphysema Pulmonary fibrosis Urinary urgency Truncal obesity Abnormal retinal morphology Polyphagia Subcapsular cataract Short finger Agenesis of permanent teeth Progressive sensorineural hearing impairment Facial asymmetry Glycosuria Bronchitis Hyperuricemia Increased number of teeth Anal atresia Knee flexion contracture Abnormality of the foot Retinal detachment Stress/infection-induced lactic acidosis Intellectual disability, mild Glaucoma Intellectual disability, moderate Attention deficit hyperactivity disorder Abnormality of the cerebral white matter Renal cyst Decreased activity of mitochondrial complex II Nevus Focal-onset seizure Cerebral calcification Generalized-onset seizure Heterotopia Subcutaneous nodule Left ventricular systolic dysfunction Progressive leukoencephalopathy CNS hypomyelination Generalized muscle weakness Strawberry tongue Aseptic leukocyturia Abnormal gallbladder morphology Absent speech Neonatal hypotonia Tetraplegia Spastic tetraplegia Increased intramyocellular lipid droplets Congenital hip dislocation External ophthalmoplegia Ketosis Preeclampsia Left ventricular noncompaction Paraganglioma Hemolytic-uremic syndrome Hypoplasia of dental enamel Polycystic kidney dysplasia Abnormal emotion/affect behavior Dental enamel pits Premature chromatid separation Renal angiomyolipoma Angiofibromas Optic nerve glioma Subependymal nodules Hypomelanotic macule Ungual fibroma Shagreen patch Cardiac rhabdomyoma Cortical tubers Chordoma Pulmonary lymphangiomyomatosis Connective tissue nevi Rhabdomyoma Subungual fibromas Ependymoma Flank pain Aortic aneurysm Generalized hypopigmentation Nephroblastoma Infantile spasms Hamartoma Renal cell carcinoma Skin tags Abnormality of the respiratory system Renal neoplasm Adenoma sebaceum White hair Brain neoplasm Astrocytoma Pneumothorax Gingival fibromatosis Chylothorax Fibroma Double outlet right ventricle with subpulmonary ventricular septal defect without pulmonary stenosis Pyuria Projection of scalp hair onto lateral cheek Neck muscle weakness Exercise-induced rhabdomyolysis Confusion Clumsiness Bradycardia Delayed gross motor development Decreased muscle mass Excessive daytime somnolence Exercise-induced myoglobinuria Recurrent hypoglycemia Skeletal myopathy Fasting hypoglycemia Generalized tonic-clonic seizures with focal onset Acute encephalopathy Reye syndrome-like episodes Hepatocellular necrosis Nonketotic hypoglycemia Reduced muscle carnitine level Crackles Palpitations Microcytic anemia Decreased mean corpuscular volume Sideroblastic anemia Abnormal glucose tolerance Hypochromic anemia Refractory sideroblastic anemia Dicarboxylic aciduria Muscle cramps Sudden cardiac death Muscle stiffness Drowsiness Myoglobinuria Exercise-induced myalgia Respiratory arrest Impaired gluconeogenesis Irregular respiration Arthralgia/arthritis Cholecystitis Abnormal myocardium morphology Recurrent pharyngitis Inflammatory abnormality of the eye Cheilitis Synovitis Ascending tubular aorta aneurysm Abnormal oral mucosa morphology Aortic root aneurysm Glossitis Arteritis Abnormal pericardium morphology Conjunctival hyperemia Cervical lymphadenopathy Coronary artery aneurysm Abnormality of nail color Allergy Acute kidney injury Decreased carnitine level in liver Meningitis Arthralgia Arthritis Erythema Nausea and vomiting Hematuria Myocardial infarction Vasculitis Abnormal heart valve morphology Conjunctivitis Ischemic stroke Hypoalbuminemia Scaling skin Leukocytosis Coronary artery atherosclerosis Elevated erythrocyte sedimentation rate Achromatic retinal patches Skeletal muscle atrophy Toe syndactyly Abnormality of the larynx Trismus Slow saccadic eye movements Nonimmune hydrops fetalis Supranuclear gaze palsy Congenital nonbullous ichthyosiform erythroderma Multiple myeloma Hypoxemia Hypomagnesemia Abnormality of the spleen Avascular necrosis of the capital femoral epiphysis Restrictive deficit on pulmonary function testing Generalized osteosclerosis Histiocytosis Abnormal pattern of respiration Bulbar signs Fetal akinesia sequence Hemophagocytosis Petechiae Akinesia Heart murmur Athetosis Menorrhagia Opisthotonus Abnormality of coagulation Hypokinesia Hepatocellular carcinoma Exertional dyspnea Bulbar palsy Congenital ichthyosiform erythroderma Atrophy/Degeneration affecting the brainstem Protuberant abdomen Limb hypertonia Epileptic spasms Eclabion Abducens palsy Ectropion Severe short stature Ventriculomegaly Microphthalmia Abnormality of cardiovascular system morphology Hypospadias Abnormal heart morphology Clinodactyly of the 5th finger Upslanted palpebral fissure Frontal bossing Proptosis Abnormal cardiac septum morphology Leukemia Small for gestational age Finger syndactyly Hip dislocation Dolichocephaly Abnormality of the skeletal system Epicanthus Subcutaneous hemorrhage Decreased beta-glucocerebrosidase protein and activity Spontaneous hematomas Intestinal bleeding Giant cell hepatitis Laryngeal stridor Orthopnea Erlenmeyer flask deformity of the femurs Hematological neoplasm High palate Abnormal platelet aggregation Cardiac valve calcification Slowed horizontal saccades EEG with temporal sharp waves Hypertelorism Cleft palate Cryptorchidism Clubbing Abnormality of the thorax Macrocephaly Weak cry Wide anterior fontanel Shock Incoordination Adrenal insufficiency Global brain atrophy Progressive spasticity Basal ganglia calcification Congenital diaphragmatic hernia Renal tubular acidosis Optic neuropathy Progressive encephalopathy Mitochondrial myopathy Nemaline bodies Increased CSF lactate Coarctation of aorta Febrile seizures Severe lactic acidosis Mental deterioration Talipes equinovarus Cerebellar atrophy Hernia Areflexia Agenesis of corpus callosum Muscular hypotonia of the trunk Abnormal pyramidal sign Premature birth Severe global developmental delay Limb muscle weakness Abnormality of movement Talipes Dyskinesia Abnormal cerebellum morphology Progressive cerebellar ataxia Corpus callosum atrophy Cerebral edema Bilateral ptosis Bone pain Decreased fetal movement Epistaxis Progressive neurologic deterioration Decreased body weight Hydrops fetalis Progressive microcephaly Elbow flexion contracture Syncope Hypocalcemia Hyperbilirubinemia Osteolysis Purpura Oculomotor apraxia Poor suck Intracranial hemorrhage Abnormality of the skin Abnormal bleeding Stiff neck Necrotizing encephalopathy Decreased activity of mitochondrial respiratory chain Biventricular hypertrophy Infantile encephalopathy Macrovesicular hepatic steatosis Cardiogenic shock Progressive macrocephaly Congenital lactic acidosis Pulmonary hypoplasia Acute necrotizing encephalopathy Exercise-induced lactic acidemia Delayed skeletal maturation Polyhydramnios Osteopenia Rigidity Corneal opacity Abnormality of the femoral head



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