Cognitive impairment, and Atrial fibrillation

Diseases related with Cognitive impairment and Atrial fibrillation

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


Top matches:

Medium match MCLEOD SYNDROME; MCLDS


Hematologically, McLeod syndrome is characterized by the absence of red blood cell Kx antigen, weak expression of Kell red blood cell antigens, acanthocytosis, and compensated hemolysis. Most carriers of this McLeod blood group phenotype have acanthocytosis and elevated serum creatine kinase levels and are prone to develop a severe neurologic disorder resembling Huntington disease (OMIM ). Onset of neurologic symptoms ranges between 25 and 60 years (mean onset 30-40 years), and penetrance appears to be high. Additional symptoms include generalized seizures, neuromuscular symptoms leading to weakness and atrophy, and cardiomyopathy mainly manifesting with atrial fibrillation, malignant arrhythmias, and dilated cardiomyopathy (summary by Jung et al., 2007).The cooccurrence of McLeod syndrome and chronic granulomatous disease (CGD ) results from a contiguous gene deletion (Francke et al., 1985).

MCLEOD SYNDROME; MCLDS Is also known as mcleod phenotype|neuroacanthocytosis, mcleod type

Related symptoms:

  • Seizures
  • Muscle weakness
  • Cognitive impairment
  • Anemia
  • Peripheral neuropathy


SOURCES: MESH OMIM MENDELIAN

More info about MCLEOD SYNDROME; MCLDS

Medium match GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY


Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

Medium match MCLEOD NEUROACANTHOCYTOSIS SYNDROME


McLeod neuroacanthocytosis syndrome (MLS) is a form of neuroacanthocytosis (see this term) and is characterized clinically by a Huntington's disease-like phenotype with an involuntary hyperkinetic movement disorder, psychiatric manifestations and cognitive alterations, and biochemically by absence of the Kx antigen and by weak expression of the Kell antigens.

MCLEOD NEUROACANTHOCYTOSIS SYNDROME Is also known as mls|x-linked mcleod syndrome

Related symptoms:

  • Seizures
  • Short stature
  • Muscle weakness
  • Cognitive impairment
  • Anemia


SOURCES: ORPHANET OMIM MENDELIAN

More info about MCLEOD NEUROACANTHOCYTOSIS SYNDROME

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Other less relevant matches:

Low match MYOTONIC DYSTROPHY 1; DM1


Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Low match AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


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. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Low match FABRY DISEASE


Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match 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

Low 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

Low match FAMILIAL SICK SINUS SYNDROME


Sick sinus syndrome is a rare cardiac rhythm disease, usually of the elderly, characterized by electrocardiographic findings of sinus bradycardia, atrial fibrillation, atrial tachycardia sinus arrest, or sino-atrial block, and that manifest with symptoms like syncope, dizziness, palpitations, fatigue, or even heart failure. It results from malfunction of the cardiac conduction system, probably secondary to degenerative fibrosis of nodal tissue in the elderly or secondary to cardiac disorders in younger patients.

FAMILIAL SICK SINUS SYNDROME Is also known as sinus node disease, familial, autosomal recessive|sinus bradycardia syndrome, familial|sick sinus syndrome, congenital|familial sinus node dysfunction|sinus rhythm, congenital absence of

Related symptoms:

  • Tremor
  • Fatigue
  • Headache
  • Vertigo
  • Tachycardia


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL SICK SINUS SYNDROME

Low match X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME


X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome is a rare X-linked syndromic intellectual disability disorder characterized by profound intellectual disability, global developmental delay with absent speech, seizures, large joint contractures, abnormal position of thumbs and middle-age onset of cardiomegaly and atrioventricular valve abnormalities, resulting in subsequent congestive heart failure. Additional features include variable facial dysmorphism (notably large ears with overfolded helix) and large testes.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY-CARDIOMEGALY-CONGESTIVE HEART FAILURE SYNDROME

Top 5 symptoms//phenotypes associated to Cognitive impairment and Atrial fibrillation

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Depressivity Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases


Intellectual disability

Common Symptoms - More than 50% cases


Peripheral neuropathy

Uncommon Symptoms - Between 30% and 50% cases


Dysphagia Congestive heart failure Rhabdomyolysis Respiratory insufficiency Left ventricular hypertrophy Fatigue Dilated cardiomyopathy Anxiety Elevated serum creatine phosphokinase Hepatomegaly Dysarthria Skeletal muscle atrophy Cerebral atrophy Hypertrophic cardiomyopathy Pain Hypertension Gait disturbance Tachycardia Myalgia Mental deterioration Cataract Hypogonadism Palpitations Edema Cardiac arrest Exercise intolerance Ventricular arrhythmia Ptosis Short stature Global developmental delay Atrioventricular block Anemia Dementia Gastroesophageal reflux Cardiomegaly Generalized-onset seizure Muscular hypotonia Generalized hypotonia Ventricular tachycardia Constipation Osteoporosis Paresthesia Heart murmur Hypothyroidism Reduced ejection fraction Pigmentary retinopathy Muscle cramps Vertigo Delayed puberty Easy fatigability Personality changes Hypertonia Hyperhidrosis Dyspnea Renal insufficiency Sensory neuropathy Ventricular hypertrophy Headache Areflexia Dystonia Stroke Respiratory distress Pes cavus Atrial flutter Behavioral abnormality Facial diplegia Cerebral cortical atrophy Hearing impairment Abnormality of the liver Failure to thrive Chest pain Tremor Motor delay Mitral valve prolapse Sensorineural hearing impairment Visual impairment Feeding difficulties in infancy

Rare Symptoms - Less than 30% cases


Fever Gastroparesis Optic atrophy Progressive external ophthalmoplegia Heart block Goiter Hyperthyroidism Abnormal EKG Ophthalmoparesis Abnormality of mitochondrial metabolism Vomiting Diarrhea Migraine Ragged-red muscle fibers Lethargy Aortic aneurysm Cerebellar atrophy Hyporeflexia Gait ataxia Ataxia Acidosis Testicular atrophy Ophthalmoplegia External ophthalmoplegia Congenital cataract Peripheral axonal neuropathy Lactic acidosis Coma Decreased body weight Increased serum lactate Amenorrhea Cerebral visual impairment Diabetes mellitus Supraventricular arrhythmia Posteriorly rotated ears Hydrocephalus Bundle branch block Progressive sensorineural hearing impairment Glomerulopathy Drowsiness Apnea Kyphoscoliosis Xerostomia Transient ischemic attack Renal tubular dysfunction Tubulointerstitial nephritis Absent speech Large earlobe Neonatal hypoglycemia Arthrogryposis multiplex congenita Sinus bradycardia Delayed skeletal maturation Asymmetric septal hypertrophy Abnormal mitral valve morphology Abnormality of the dentition Abnormality of the renal tubule Short neck Ventriculomegaly Feeding difficulties Nystagmus Dysesthesia Hypertelorism Growth delay Tricuspid regurgitation Hemiplegia Abdominal pain Nausea Hyperkeratosis Coarse facial features Carcinoma Proteinuria Concentric hypertrophic cardiomyopathy Abnormality of the nervous system Hip dysplasia Postural instability Prolonged QT interval Developmental regression Pruritus Malabsorption Nausea and vomiting Thick vermilion border Chronic kidney disease Hematuria Nephropathy Sudden cardiac death Syncope Abnormality of the cardiovascular system Nephrotic syndrome Thick lower lip vermilion Spontaneous abortion Lymphedema Bradycardia Purpura Ischemic stroke Tetraplegia Anorexia Mitochondrial myopathy Hydrops fetalis Elevated hepatic transaminase Hypokinesia Cardiorespiratory arrest Abnormality of the gastrointestinal tract Wolff-Parkinson-White syndrome Myocardial fibrosis Skeletal myopathy Rigidity Abnormality of the cerebral white matter Hyperlipidemia Lower limb muscle weakness Confusion Parkinsonism Memory impairment Involuntary movements Hallucinations Sensorimotor neuropathy Sensory axonal neuropathy Neurodevelopmental delay Psychosis Supraventricular tachycardia EMG abnormality Splenomegaly Myoclonus Hepatosplenomegaly Muscular dystrophy Ichthyosis Dyskinesia Chorea Obsessive-compulsive behavior Limb muscle weakness Motor axonal neuropathy Acanthocytosis Tics Personality disorder Myopia Visual loss Proximal muscle weakness Retinopathy Bipolar affective disorder EMG: myopathic abnormalities Delayed speech and language development Polyhydramnios Dilatation Premature birth Progressive muscle weakness Respiratory failure Impaired temperature sensation Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Abnormal mitochondrial shape Episodic quadriplegia Cochlear degeneration Progressive night blindness Cochlear malformation Edema of the dorsum of hands Abnormal mitochondrial morphology Paronychia Progeroid facial appearance Morphological abnormality of the vestibule of the inner ear Abnormal nerve conduction velocity Persistence of primary teeth Leber optic atrophy Spontaneous hematomas Amaurosis fugax Multiple joint contractures Auditory hallucinations Renal Fanconi syndrome Spotty hypopigmentation Tubulointerstitial abnormality Psychotic episodes Abnormality of the cerebellar vermis Crohn's disease Hemeralopia Abnormal macular morphology Bilateral intracranial calcifications Prominent ear helix Morphological abnormality of the inner ear Atrial septal defect Abnormality of the skeletal system Ventricular septal defect Macrotia Talipes equinovarus Anteverted nares Flexion contracture Intellectual disability, mild Downslanted palpebral fissures Short nose Lack of skin elasticity Long philtrum Abnormality of cardiovascular system morphology Central apnea Spasticity Frontal bossing Macrocephaly Muscle fiber atrophy Micrognathia Aortic valve stenosis Abnormality of earlobe Scoliosis Limited elbow movement Neoplasm Intellectual disability, profound Strabismus Epicanthus Abnormal facial shape Cryptorchidism Low-set ears High palate Depressed nasal bridge Spastic tetraplegia Abnormality of the testis Writer's cramp Motor polyneuropathy Psychomotor deterioration Concave nail Aphasia Vestibular dysfunction Dysphasia Rhabdomyosarcoma Hyperkalemia Visual field defect Multiple lipomas Adrenal insufficiency Vertebral fusion Basal ganglia calcification Hypoplasia of teeth Thyroiditis Abnormality of immune system physiology Primary adrenal insufficiency Pneumothorax Overlapping toe Distal arthrogryposis Hyponatremia Hyperkinesis Growth abnormality Cachexia Decreased nerve conduction velocity Hypercalciuria Bilateral ptosis Intestinal obstruction Abnormality of neuronal migration Contractures of the large joints Aplasia/Hypoplasia of the cerebellum Bifid scrotum Mask-like facies Hemiplegia/hemiparesis Focal segmental glomerulosclerosis Pulmonary embolism Fasting hypoglycemia Sinoatrial block Left ventricular failure Redundant neck skin Reduced consciousness/confusion Gait imbalance Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Speech apraxia Broad femoral neck Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Proximal tubulopathy Ileus Hemianopia Episodic vomiting Schwannoma Cerebral ischemia Atopic dermatitis Posterior subcapsular cataract Broad philtrum Hashimoto thyroiditis Abnormality of visual evoked potentials Venous insufficiency Vitiligo Hypoparathyroidism Delusions Macroorchidism Deep palmar crease Aortic dissection Visual hallucinations Labial hypoplasia Increased CSF lactate Abnormality of the thumb Hernia Pectus excavatum Paroxysmal atrial tachycardia Neonatal sepsis Woolly hair Bilateral cryptorchidism Hyperglycemia Pleural effusion Failure to thrive in infancy Redundant skin Pyloric stenosis Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Capillary malformation Triangular mouth Melena Rocker bottom foot Large face Loose anagen hair Acanthosis nigricans Cardiomyocyte hypertrophy Bronchomalacia Cutis laxa Papilloma Abnormal dermatoglyphics Hematemesis Infantile muscular hypotonia Bladder carcinoma Thin nail Deep plantar creases Hemangioma Choroid plexus papilloma Hypoplastic toenails Large for gestational age Short chin Megalencephaly Ganglioneuroblastoma Transitional cell carcinoma of the bladder Microscopic hematuria Hypopnea Thickened nuchal skin fold Fragile nails Barrel-shaped chest Vestibular Schwannoma Bladder neoplasm Shyness Postprandial hyperglycemia Abnormal pulmonary valve morphology Body odor Ulnar deviation of the wrist Frontal hirsutism Severe postnatal growth retardation Reduced subcutaneous adipose tissue Embryonal rhabdomyosarcoma Keratoconus Curly hair Neuroblastoma Mutism Multifocal atrial tachycardia Ulnar deviation of finger Generalized hyperpigmentation Obstructive sleep apnea Tracheomalacia Central hypotonia Syringomyelia Arnold-Chiari type I malformation Soft skin Deep-set nails Abnormality of the fingernails Abnormality of dental enamel Verrucae Wide mouth Achilles tendon contracture Sleep disturbance High, narrow palate Sick sinus syndrome Wide nose Joint hypermobility Ventricular escape rhythm Astigmatism Joint hyperflexibility Hyperextensibility of the finger joints Pulmonic stenosis Hypermetropia Pectus carinatum Sparse hair Paroxysmal supraventricular tachycardia Abnormal atrioventricular conduction Large forehead Duodenal ulcer Abnormal heart morphology Inguinal hernia Severe short stature Proptosis Atrial standstill Osteopenia Postnatal growth retardation Hypoglycemia Joint laxity Abnormal electrophysiology of sinoatrial node origin Intellectual disability, moderate Low-set, posteriorly rotated ears Irritability Ascites Endocardial fibroelastosis Narrow palate Alveolar rhabdomyosarcoma Wide anterior fontanel Thickened Achilles tendon Congenital neuroblastoma Lymphangiectasis Cafe-au-lait spot Abnormality of the hair Hoarse voice Increased corneal curvature Tendon rupture Vitreomacular adhesion Myofiber disarray Enlarged cerebellum Macrocephaly at birth Pointed chin Systolic heart murmur Hyperpigmentation of the skin Macroglossia Abnormality of the skin Sepsis Full cheeks Nevus Thick upper lip vermilion Webbed neck Growth hormone deficiency Overgrowth Long eyelashes Eczema Apraxia Epidermal acanthosis Hypoplasia of dental enamel Fetal distress Paroxysmal atrial fibrillation Schizophrenia Tubulointerstitial fibrosis Hypopigmented skin patches Secondary amenorrhea Premature ovarian insufficiency Increased variability in muscle fiber diameter Glucose intolerance Difficulty climbing stairs Resting tremor Exertional dyspnea Gonadal dysgenesis Hypergonadotropic hypogonadism Ketosis Hypomimic face Shoulder girdle muscle weakness Absent Achilles reflex Abnormality of the mitochondrion Parkinsonism with favorable response to dopaminergic medication Dysphonia Frequent falls Muscle fiber necrosis Narcolepsy Centrally nucleated skeletal muscle fibers Neurofibrillary tangles Nonimmune hydrops fetalis First degree atrioventricular block Frontal balding Excessive daytime sleepiness Obsessive-compulsive trait Primary amenorrhea Percussion myotonia Ring fibers Facial palsy Abnormality of eye movement Bradykinesia Abnormality of extrapyramidal motor function Cogwheel rigidity Cytochrome C oxidase-negative muscle fibers Alzheimer disease Myocardial infarction Stage 5 chronic kidney disease Bulbous nose Thick eyebrow Abdominal distention Urinary incontinence Hypotension Mitral regurgitation Corneal opacity Abnormal lung morphology Subcutaneous nodule Hypohidrosis Fasciculations Abnormal autonomic nervous system physiology Aminoaciduria Papule Prominent nasal bridge Impaired distal vibration sensation Quadriceps muscle weakness Nocturia Impaired distal proprioception Multiple mitochondrial DNA deletions Acute rhabdomyolysis Subsarcolemmal accumulations of abnormally shaped mitochondria Progressive ophthalmoplegia Focal white matter lesions Cough Midface retrusion Mandibular prognathia Arthralgia Arthritis Abnormality of the kidney Skin rash Thin ribs Myotonia Abnormal intestine morphology Exercise-induced muscle cramps Generalized amyotrophy Abnormal retinal morphology Myofibrillar myopathy Autophagic vacuoles Muscle flaccidity Retinal pigment epithelial mottling Impaired myocardial contractility Abnormal electroretinogram Ventricular preexcitation Myocardial necrosis Left ventricular systolic dysfunction Macular hypopigmentation Suicidal ideation Increased cerebral lipofuscin Back pain Cone/cone-rod dystrophy Babinski sign Hyperactivity Pneumonia Aspiration Abnormality of the musculature Aspiration pneumonia Abetalipoproteinemia Phonic tics Reduced visual acuity Respiratory insufficiency due to muscle weakness Abnormality of the eye Scarring Distal amyotrophy Distal sensory impairment Progressive visual loss Decreased liver function Glycogen accumulation in muscle fiber lysosomes Abnormality of movement Cholelithiasis Intellectual disability, severe Abnormal corpus striatum morphology Recurrent singultus Blood group antigen abnormality Abnormal facial expression Hyporeflexia of upper limbs Abnormality of the astrocytes Neonatal hypotonia Abnormal lactate dehydrogenase activity Talipes Unsteady gait Brain atrophy Decreased fetal movement Insulin resistance Intellectual disability, progressive Caudate atrophy Abnormal social behavior Hemolytic anemia Impaired pain sensation Neuronal loss in central nervous system Sleep apnea Emotional lability Ventricular fibrillation Bowel incontinence Impaired vibration sensation in the lower limbs Restlessness Generalized limb muscle atrophy Insomnia Ventricular extrasystoles Left bundle branch block Orofacial dyskinesia Excessive salivation Hyporeflexia of lower limbs Increased muscle fatiguability Aortic regurgitation Progressive hearing impairment Reduced tendon reflexes Microcephaly Abnormal ST segment Increased carotid artery intimal medial thickness Increased glomerular filtration rate Abnormality of the common coagulation pathway Abnormal glomerular filtration rate Cornea verticillata Hyperreflexia Acroparesthesia Blindness Kyphosis Encephalopathy Cerebellar hypoplasia Rod-cone dystrophy Weight loss Abnormal common carotid artery morphology Heavy proteinuria Jaundice ST segment depression Angiokeratoma corporis diffusum Decreased lacrimation Shortened PR interval Coronary artery stenosis Mucosal telangiectasiae Unexplained fevers Functional abnormality of the gastrointestinal tract Tenesmus Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Abnormality of the forehead Hyperkeratotic papule Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Autism Photophobia Hyposthenuria Abnormality of retinal pigmentation Type II diabetes mellitus Pulmonary arterial hypertension Status epilepticus Hemiparesis Hypertrichosis Gingival overgrowth Clonus Cerebral calcification Truncal ataxia Generalized hirsutism Hypogonadotrophic hypogonadism Type I diabetes mellitus Macular degeneration Pancreatitis Bilateral sensorineural hearing impairment Specific learning disability EEG abnormality Generalized tonic-clonic seizures Abnormality of the pinna Protruding ear Erythema Nyctalopia Attention deficit hyperactivity disorder Neurological speech impairment Carious teeth Sensory impairment Anal atresia Dysmetria Polymicrogyria Hirsutism Polyneuropathy Abnormal cerebellum morphology Generalized myoclonic seizures Shortened QT interval Obstructive lung disease Corneal dystrophy Aortic root aneurysm Celiac disease Telangiectasia of the skin Abnormal heart valve morphology Glycosuria Renal tubular acidosis Wheezing Abnormality of lipid metabolism Interstitial pulmonary abnormality Edema of the lower limbs Elevated serum creatinine Tubular atrophy Oligospermia Heat intolerance Peripheral arterial stenosis Orthostatic hypotension Elevated erythrocyte sedimentation rate Angina pectoris Clubbing Reduced bone mineral density Tinnitus Prominent supraorbital ridges Abnormality of the hand Glomerulosclerosis Polydipsia Impaired vibratory sensation Coronary artery atherosclerosis Diabetes insipidus Polyuria Anhidrosis Emphysema Loss of consciousness Impotence Clubbing of fingers Chronic obstructive pulmonary disease Angiokeratoma Limb pain Abnormal endocardium morphology Abnormality of cardiovascular system physiology Decreased female libido Vascular skin abnormality Retinal vascular tortuosity Corneal crystals Abnormality of temperature regulation Primary hypothyroidism Nephrogenic diabetes insipidus Decreased glomerular filtration rate Vascular tortuosity Distal renal tubular acidosis Increased blood urea nitrogen Reduced sperm motility Biventricular hypertrophy Microalbuminuria Achalasia Periorbital fullness Chronic fatigue Abnormality of femur morphology Abnormality of the nose Restrictive cardiomyopathy Abnormal myocardium morphology High-frequency hearing impairment Gastrointestinal dysmotility Conjunctival telangiectasia Abnormal aortic valve morphology T-wave inversion Miosis Abnormal renal physiology Chronic pain Abnormal thrombosis Abnormal cornea morphology Sclerotic vertebral endplates



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Scarring, related diseases and genetic alterations Ventricular septal defect and Camptodactyly of finger, related diseases and genetic alterations Intellectual disability, severe and Hyperhidrosis, related diseases and genetic alterations Congestive heart failure and Osteoporosis, related diseases and genetic alterations

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