Cognitive impairment, and Bradycardia

Diseases related with Cognitive impairment and Bradycardia

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


Top matches:

Medium match NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME


Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Medium match MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY


Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency is a rare mitochondrial oxidative phosphorylation disorder with complex I and IV deficiency characterized by lactic acidosis, hypotonia, hypertrophic cardiomyopathy and global developmental delay. Other clinical features include feeding difficulties, failure to thrive, seizures, optic atrophy and ataxia.

MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY Is also known as cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acidosis|coxpd10|combined oxidative phosphorylation defect type 10

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL HYPERTROPHIC CARDIOMYOPATHY WITH LACTIC ACIDOSIS DUE TO MTO1 DEFICIENCY

Medium match ALTERNATING HEMIPLEGIA OF CHILDHOOD


Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

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Other less relevant matches:

Medium match CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10 Is also known as neuronal ceroid lipofuscinosis due to cathepsin d deficiency|ceroid lipofuscinosis, neuronal, cathepsin d-deficient

Related symptoms:

  • Seizures
  • Microcephaly
  • Ataxia
  • Spasticity
  • Low-set ears


SOURCES: ORPHANET OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 10; CLN10

Medium match CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY


Carnitine-acylcarnitine translocase (CACT) deficiency is a life-threatening, inherited disorder of fatty acid oxidation which usually presents in the neonatal period with severe hypoketotic hypoglycemia, hyperammonemia, cardiomyopathy and/or arrhythmia, hepatic dysfunction, skeletal muscle weakness, and encephalopathy.

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY Is also known as cact deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Medium match TUBEROUS SCLEROSIS COMPLEX


Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multisystem hamartomas and associated with neuropsychiatric features.

TUBEROUS SCLEROSIS COMPLEX Is also known as tuberous sclerosis|bourneville syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Neoplasm
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about TUBEROUS SCLEROSIS COMPLEX

Medium match TIMOTHY SYNDROME


Timothy syndrome is a multi-system disorder characterized by cardiac, hand, facial and neurodevelopmental features that include QT prolongation, webbed fingers and toes, flattened nasal bridge, low-set ears, small upper jaw, thin upper lip, and characteristic features of autism or autistic spectrum disorders.

TIMOTHY SYNDROME Is also known as lqt8|long qt syndrome 8|long qt syndrome with syndactyly|long qt syndrome-syndactyly syndrome|long qt syndrome type 8

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about TIMOTHY SYNDROME

Medium match DK1-CDG


DK1-CDG is characterised by muscular hypotonia and ichthyosis. It has been described in four children from two consanguineous families. All the affected children died during early infancy, two from dilated cardiomyopathy. The syndrome is caused by a deficiency in dolichol kinase 1 (DK1), an enzyme involved in the de novo biosynthesis of dolichol phosphate. The mutations identified in the DK1 gene led to a 96 to 98% reduction in DK activity.

DK1-CDG Is also known as cdg-im|cdg im|hypotonia and ichthyosis due to dolichol phosphate deficiency|cdg syndrome type im|congenital disorder of glycosylation type im|congenital disorder of glycosylation type 1m|cdgim|dk1 deficiency|cdg1m|carbohydrate deficient glycoprotein syndr

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about DK1-CDG

Medium match MUENKE SYNDROME


Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.

MUENKE SYNDROME Is also known as muenke nonsyndromic coronal craniosynostosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MUENKE SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Bradycardia

Symptoms // Phenotype % cases
Seizures Very Common - Between 80% and 100% cases
Global developmental delay Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Respiratory insufficiency Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Bradycardia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Dysphagia Intellectual disability Hypoglycemia Apnea Muscle weakness Ataxia Muscular hypotonia Encephalopathy Respiratory distress Cardiomegaly Acidosis Low-set ears Ventricular fibrillation Myopathy Hypertrophic cardiomyopathy Congestive heart failure Optic atrophy Hepatomegaly Hearing impairment Nystagmus Cyanosis Sensorineural hearing impairment Mental deterioration Atrioventricular block Ventricular tachycardia Elevated serum creatine phosphokinase Status epilepticus Hypothyroidism Increased serum lactate

Rare Symptoms - Less than 30% cases


Dilatation Autistic behavior Microcephaly Abnormal cardiac septum morphology Ptosis Migraine Parkinsonism Renal insufficiency Esotropia Prominent forehead Short stature Autism Peripheral neuropathy Behavioral abnormality Myalgia Depressivity Wide nasal bridge Hypothermia Cardiac arrest Ventricular hypertrophy Generalized muscle weakness Coma Elevated hepatic transaminase Sensory axonal neuropathy Postnatal microcephaly Cerebral cortical atrophy Tremor Generalized-onset seizure Syndactyly Gliosis Hypoketotic hypoglycemia Rigidity Strabismus Dementia Cerebral atrophy Tetraplegia Anxiety Growth delay Hypopigmented skin patches Dystonia Lactic acidosis Motor delay EEG abnormality Spasticity Patent ductus arteriosus Wolff-Parkinson-White syndrome Cerebellar atrophy Increased intracranial pressure Neuronal loss in central nervous system Failure to thrive Pain Areflexia Ventricular septal defect Feeding difficulties Decreased activity of mitochondrial respiratory chain Tachycardia Recurrent infections Hypertelorism Immunodeficiency Fatigue Prolonged QT interval 2-3 toe syndactyly Subependymal nodules Mixed hearing impairment Multiple joint contractures Obsessive-compulsive behavior Bronchitis Chordoma Retinal hamartoma Cutaneous finger syndactyly Cortical tubers Optic nerve glioma Protruding tongue Frontal balding Ependymoma Abnormal direction of ventricular apex Atrioventricular dissociation T-wave alternans Shagreen patch Abnormality of dental color Biventricular hypertrophy Amelogenesis imperfecta Macrodactyly Cutaneous syndactyly of toes Optic nerve hypoplasia Torsade de pointes Renal angiomyolipoma Angiofibromas Perimembranous ventricular septal defect Patent foramen ovale Abnormality of the dentition Ventricular arrhythmia Subependymal giant-cell astrocytoma Sudden cardiac death Hypoplasia of the maxilla Joint hypermobility Toe syndactyly Carious teeth Hip dislocation Thin upper lip vermilion Subungual fibromas Gastroesophageal reflux Pneumonia Abnormal facial shape Depressed nasal bridge Constipation Myopia Abnormal heart morphology Rhabdomyoma Achromatic retinal patches Cutaneous syndactyly Pulmonary arterial hypertension Abnormality of dental enamel Hypocalcemia Cardiac rhabdomyoma Sinusitis Hypoplasia of dental enamel Abnormality of cardiovascular system morphology Abnormality of the face Tetralogy of Fallot Pulmonary lymphangiomyomatosis Hypomelanotic macule Microdontia Round face Syncope Dental enamel pits Ungual fibroma Confetti-like hypopigmented macules Splenomegaly Myocarditis Absent speech Epidermal acanthosis Short middle phalanx of finger Tracheoesophageal fistula Radial deviation of finger Cone-shaped epiphysis Trigonocephaly Acanthosis nigricans Plagiocephaly Low anterior hairline Bilateral sensorineural hearing impairment Hypermelanotic macule Febrile seizures Dental malocclusion Hypopigmentation of the skin Short foot High, narrow palate Short palm Craniosynostosis Proptosis Brachycephaly Broad hallux Tarsal synostosis Midface retrusion Parietal foramina Low-frequency sensorineural hearing impairment Unicoronal synostosis Short middle phalanx of toe Bicoronal synostosis Capitate-hamate fusion Synostosis of carpals/tarsals Hemimegalencephaly Craniofacial asymmetry Lambdoidal craniosynostosis Hypopigmentation of hair Abnormality of the head Anterior plagiocephaly Oxycephaly Aqueductal stenosis Upper airway obstruction Cone-shaped epiphyses of the phalanges of the hand Coronal craniosynostosis Carpal synostosis Esophageal atresia Clinodactyly Malar flattening Alopecia Aspiration Bilateral talipes equinovarus Hyperglycemia Erythroderma Sacral dimple Leukopenia Severe muscular hypotonia Sparse eyelashes Recurrent pneumonia Sparse and thin eyebrow Neurodevelopmental delay Thin skin Inflammatory abnormality of the skin Hypsarrhythmia Abnormal bleeding Neutropenia Ichthyosis Dry skin Dilated cardiomyopathy Hyperkeratosis Abnormality of coagulation Lipoatrophy Hydrocephalus Hypertension Hypoplasia of the corpus callosum Anteverted nares Abnormality of the skeletal system Frontal bossing Downslanted palpebral fissures Macrocephaly Brachydactyly Hyperreflexia High palate Microcytic anemia Aplasia of the fingers Adactyly Abnormal isoelectric focusing of serum transferrin Reduced antithrombin III activity Type I transferrin isoform profile Aplasia/Hypoplasia of the nipples Congenital hepatic fibrosis Adenoma sebaceum Epileptic spasms Third degree atrioventricular block Limb-girdle muscle weakness Chylothorax Visual loss Retinal atrophy Intellectual disability, progressive Sloping forehead Nevus Peripheral axonal neuropathy Respiratory failure Rod-cone dystrophy Abnormality of metabolism/homeostasis Central apnea Intellectual disability, severe Episodic hemiplegia Episodic quadriplegia Bronchospasm Abnormality of the mitochondrion Facial paralysis Wheezing Anhidrosis Loss of speech Intracellular accumulation of autofluorescent lipopigment storage material Impulsivity Progressive neurologic deterioration Reduced ejection fraction Preeclampsia Cardiorespiratory arrest Ventricular extrasystoles Rhabdomyolysis Hyperammonemia Decreased liver function Hypotension Increased neuronal autofluorescent lipopigment Aciduria Hepatic steatosis Hepatic failure Lethargy Irritability Abnormality of the nervous system Vomiting Premature closure of fontanelles Oral-pharyngeal dysphagia Stridor Fasting hypoglycemia Motor deterioration Pleural effusion Infantile muscular hypotonia Ascites Metabolic acidosis Poor speech Small for gestational age Astrocytosis Hypoplastic left heart Ketonuria Neonatal respiratory distress Abnormality of mitochondrial metabolism Epileptic encephalopathy Polyneuropathy Neonatal hypotonia Cerebellar hypoplasia Intrauterine growth retardation Scoliosis Aspiration pneumonia Sinus bradycardia Hemiplegia Abnormality of eye movement Slurred speech Abnormal autonomic nervous system physiology Muscle stiffness Exotropia Involuntary movements Choreoathetosis Hemiparesis Chorea Generalized tonic-clonic seizures Severe lactic acidosis Paralysis Developmental regression Abnormality of the eye Dyspnea Hyperhidrosis Pes cavus Headache Hyperalaninemia Decreased plasma carnitine Dicarboxylic aciduria Abnormality of the pleura Attention deficit hyperactivity disorder Cafe-au-lait spot Subcutaneous nodule Cerebral calcification Specific learning disability Renal cyst Iris coloboma Papule Abnormality of the liver Precocious puberty Neoplasm Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Cytochrome C oxidase-negative muscle fibers Sensory ataxia Mitochondrial myopathy Progressive external ophthalmoplegia Bipolar affective disorder Aplasia/Hypoplasia of the corpus callosum Abnormality of neuronal migration Resting tremor Neoplasm of the pancreas Rhabdomyosarcoma Pneumothorax Gingival fibromatosis Astrocytoma Abnormality of the pancreas Abnormality of the respiratory system Skin tags Gingivitis Multiple renal cysts Emphysema Nevus flammeus Renal cell carcinoma Hamartoma Multiple cafe-au-lait spots Infantile spasms Macule Cortical dysplasia Prominent occiput Insomnia Abnormality of the thyroid gland Oliguria Gait disturbance Limb muscle weakness Ophthalmoplegia Severe global developmental delay Proximal muscle weakness Diabetes mellitus Hypogonadism Hyporeflexia Skeletal muscle atrophy Paresthesia Dysarthria Visual impairment Cataract Abnormality of skeletal muscles Sudden episodic apnea Elevated creatine kinase after exercise Elevated plasma acylcarnitine levels Decreased urine output Lower limb muscle weakness Sensory neuropathy Coronary artery atherosclerosis Progressive hearing impairment Ophthalmoparesis Apathy Premature ovarian insufficiency Bilateral ptosis Dysphonia Mutism EMG: myopathic abnormalities Ragged-red muscle fibers External ophthalmoplegia Muscle cramps Exercise intolerance Diplopia Progressive muscle weakness Left ventricular hypertrophy Bradykinesia Amenorrhea Memory impairment Brain atrophy Thimble-shaped middle phalanges of hand



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Rod-cone dystrophy and Gliosis, related diseases and genetic alterations Intrauterine growth retardation and Focal seizures, related diseases and genetic alterations Hepatomegaly and Syndactyly, related diseases and genetic alterations High palate and Constipation, related diseases and genetic alterations

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