Dysarthria, and Atrial fibrillation

Diseases related with Dysarthria and Atrial fibrillation

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

Top matches:

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

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

Medium match FRIEDREICH ATAXIA

Friedreich ataxia (FRDA) is an inherited neurodegenerative disorder classically characterized by progressive gait and limb ataxia, dysarthria, dysphagia, oculomotor dysfunction, loss of deep tendon reflexes, pyramidal tract signs, scoliosis, and in some, cardiomyopathy, diabetes mellitus, visual loss and defective hearing.

FRIEDREICH ATAXIA Is also known as frda1|fa|frda

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about FRIEDREICH ATAXIA

Other less relevant matches:

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

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

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

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

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

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

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5; PEOB5 Is also known as progressive external ophthalmoplegia, autosomal recessive 5

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5; PEOB5

Top 5 symptoms//phenotypes associated to Dysarthria and Atrial fibrillation

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Arrhythmia Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Depressivity

Uncommon Symptoms - Between 30% and 50% cases

Peripheral neuropathy Cerebellar atrophy Elevated serum creatine phosphokinase Cognitive impairment Dilated cardiomyopathy Hearing impairment Myopathy Rhabdomyolysis Tachycardia Ptosis Nystagmus Left ventricular hypertrophy Sensory neuropathy Congestive heart failure Visual impairment Intellectual disability Gait disturbance Fatigue Ataxia Global developmental delay Anxiety Areflexia Hepatomegaly Dystonia Congenital cataract Osteoporosis Cataract Tremor Ophthalmoplegia Involuntary movements Hypertrophic cardiomyopathy Kyphoscoliosis Ventricular arrhythmia Gait ataxia Cerebral cortical atrophy Diabetes mellitus Sensory axonal neuropathy Headache Pes cavus Hypogonadism Progressive external ophthalmoplegia Skeletal muscle atrophy Gastroesophageal reflux Ragged-red muscle fibers External ophthalmoplegia Exercise intolerance Migraine Muscle cramps Sensorineural hearing impairment Respiratory insufficiency Failure to thrive Hypertonia Chorea Vertigo Peripheral axonal neuropathy Anemia Dysmetria Palpitations Short stature Dementia Tetraplegia Generalized-onset seizure Cerebral atrophy

Rare Symptoms - Less than 30% cases

Glucose intolerance Abnormality of the liver Myopia Strabismus Retinopathy Cachexia Reduced tendon reflexes Spastic paraparesis Left ventricular failure Lethargy Myalgia Hypothyroidism Visual field defect Acidosis Atrial flutter Abnormality of visual evoked potentials Heart block Ketosis Spastic tetraplegia Gait imbalance Constipation Hyporeflexia Edema Asymmetric septal hypertrophy Concentric hypertrophic cardiomyopathy Generalized hypotonia Abnormality of the nervous system Cerebral visual impairment Hydrocephalus Hip dysplasia Renal insufficiency Delayed skeletal maturation Apnea Feeding difficulties in infancy Stroke Heart murmur Arthrogryposis multiplex congenita Delayed puberty Nephropathy Postural instability Absent speech Short neck Neonatal hypoglycemia Drowsiness Hemiparesis Decreased body weight Atrioventricular block Hemiplegia Aortic aneurysm Hematuria Astigmatism Hypermetropia Abnormality of the dentition Ventriculomegaly Lactic acidosis Hyperthyroidism Coma Increased serum lactate Amenorrhea Pigmentary retinopathy Prolonged QT interval Goiter Easy fatigability Dysphonia Abnormality of mitochondrial metabolism Ophthalmoparesis Mitochondrial myopathy Intellectual disability, mild Facial diplegia Gastroparesis Truncal ataxia Microcephaly Growth delay Hypertelorism Muscular hypotonia Feeding difficulties Motor delay Hypertension Paraparesis Facial palsy Scoliosis EMG abnormality Myoclonus Hepatosplenomegaly Dyspnea Hyperhidrosis Babinski sign Ichthyosis Dyskinesia Cardiomegaly Bipolar affective disorder Abnormality of eye movement Limb muscle weakness Obsessive-compulsive behavior Elevated hepatic transaminase Visual loss Kyphosis Respiratory distress Talipes equinovarus Optic atrophy Spasticity Pain Supraventricular tachycardia Personality disorder Tics Motor axonal neuropathy Rigidity Acanthocytosis Abnormal cerebellum morphology Hallucinations Abnormality of the cerebral white matter Personality changes Ventricular hypertrophy Sensory impairment Chest pain Parkinsonism Paresthesia Memory impairment Confusion Abnormality of movement Behavioral abnormality Cardiac arrest Splenomegaly Lower limb muscle weakness Mental deterioration Sensorimotor neuropathy Mitral valve prolapse Wide anterior fontanel Hyperpigmentation of the skin Keratoconus Webbed neck Hypoplastic toenails Long eyelashes Hypoplasia of dental enamel Growth hormone deficiency Tricuspid regurgitation Rocker bottom foot Large for gestational age Thick lower lip vermilion Abnormality of the skin Epidermal acanthosis Overgrowth Reduced subcutaneous adipose tissue Eczema Apraxia Neurodevelopmental delay Abnormality of the hair Lymphedema Infantile muscular hypotonia Pleural effusion Failure to thrive in infancy Redundant skin Pyloric stenosis Hyperextensible skin Poor suck Laryngomalacia Relative macrocephaly Arnold-Chiari malformation Hemangioma Hyperglycemia Premature birth Hydrops fetalis Cutis laxa Acanthosis nigricans Abnormality of the fingernails Short chin Abnormality of dental enamel Narrow palate Pointed chin Sinoatrial block Bilateral cryptorchidism Hoarse voice Broad-based gait Cafe-au-lait spot Abnormal dermatoglyphics Microcornea Nevus Ventricular septal defect Depressed nasal bridge Epicanthus Macrocephaly Downslanted palpebral fissures Frontal bossing Abnormality of the skeletal system Anteverted nares High palate Upper limb dysmetria Atrial septal defect Short nose Long philtrum Abnormality of cardiovascular system morphology Nasal regurgitation Delayed speech and language development Low-set ears Pectus excavatum Episodic quadriplegia Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Bilateral intracranial calcifications Cryptorchidism Morphological abnormality of the vestibule of the inner ear Morphological abnormality of the inner ear Prominent ear helix Neoplasm Micrognathia Abnormal facial shape Hernia Abnormal heart morphology Full cheeks Thick vermilion border Limb dysmetria Pulmonic stenosis Joint hyperflexibility Joint hypermobility Wide nose Neuroblastoma Neck muscle weakness Sparse hair High, narrow palate Sleep disturbance Ascites Diplopia Macroglossia Sepsis Pectus carinatum Wide mouth Inguinal hernia Osteopenia Severe short stature Posteriorly rotated ears Respiratory failure Hyperkeratosis Proptosis Polyhydramnios Coarse facial features Postnatal growth retardation Hypoglycemia Carcinoma Joint laxity Intellectual disability, moderate Low-set, posteriorly rotated ears Irritability Curly hair Severe postnatal growth retardation Ulnar deviation of finger Deep-set nails Shyness Hypopnea Transitional cell carcinoma of the bladder Ganglioneuroblastoma Frontal hirsutism Vestibular Schwannoma Embryonal rhabdomyosarcoma Body odor Multifocal atrial tachycardia Neonatal sepsis Choroid plexus papilloma Posterior embryotoxon Bladder carcinoma Cardiomyocyte hypertrophy Postprandial hyperglycemia Ulnar deviation of the wrist Macrocephaly at birth Anterior segment developmental abnormality Cochlear malformation Triangular mouth Migraine with aura Porencephalic cyst Hypopigmentation of the fundus Anterior synechiae of the anterior chamber Corneal neovascularization Duodenal ulcer Ectopia pupillae Increased intraocular pressure Hypoplasia of the iris Capillary malformation Bladder neoplasm Abnormal pulmonary valve morphology Loose anagen hair Enlarged cerebellum Neuritis Dilatation Blurred vision Venous insufficiency Contractures of the large joints Cerebral hemorrhage Sclerotic vertebral endplates Microphthalmia Glaucoma Congenital glaucoma Intracranial hemorrhage Corneal opacity Retinal detachment Leukoencephalopathy Amblyopia Renal cyst Abnormality of the thumb Macroorchidism Myofiber disarray Systolic heart murmur Vitreomacular adhesion Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Infantile spasms Multiple joint contractures Increased corneal curvature Flexion contracture Macrotia Scotoma Intellectual disability, profound Aortic valve stenosis Retinal hemorrhage Arterial tortuosity Generalized hyperpigmentation Verrucae Progeroid facial appearance Woolly hair Large earlobe Thick upper lip vermilion Achilles tendon contracture Large forehead Central apnea Megalencephaly Lack of skin elasticity Supraventricular arrhythmia Abnormality of the testis Redundant neck skin Labial hypoplasia Deep palmar crease Barrel-shaped chest Sick sinus syndrome Broad philtrum Obstructive sleep apnea Tracheomalacia Central hypotonia Syringomyelia Arnold-Chiari type I malformation Soft skin Paroxysmal atrial tachycardia Hypopigmentation of the skin Ventricular escape rhythm Microscopic hematuria Atrial standstill Thickened nuchal skin fold Fragile nails Abnormal electrophysiology of sinoatrial node origin Paroxysmal supraventricular tachycardia Abnormal mitral valve morphology Fasting hypoglycemia Rieger anomaly Deep plantar creases Retinal arterial tortuosity Right hemiplegia Papilloma Peripapillary atrophy Large face Thin nail Hematemesis Bronchomalacia Melena Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Polycoria Posterior leukoencephalopathy Thalamic hemorrhage Hypoplasia of teeth Rhabdomyosarcoma Concave nail Abnormal atrioventricular conduction Endocardial fibroelastosis Paroxysmal atrial fibrillation Pneumothorax Hyperextensibility of the finger joints Broad femoral neck Syncope Schwannoma Abnormality of earlobe Limited elbow movement Sinus bradycardia Bradycardia Fetal distress Progressive night blindness Ischemic stroke Edema of the dorsum of hands Cerebellar cortical atrophy Abolished vibration sense Spinal cord posterior columns myelin loss Palmar hyperhidrosis Temporal optic disc pallor Abnormality of the dentate nucleus Decreased pyruvate carboxylase activity Mitochondrial malic enzyme reduced Cervical spinal cord atrophy Muscular subvalvular aortic stenosis Decreased amplitude of sensory action potentials Hemifacial hypertrophy Abnormality of the autonomic nervous system Incomprehensible speech Upper limb amyotrophy Diabetic ketoacidosis Impaired visually enhanced vestibulo-ocular reflex Abnormal echocardiogram Hyposmia Spinocerebellar tract degeneration Impaired proprioception Subvalvular aortic stenosis T-wave inversion Poor fine motor coordination Lower limb amyotrophy Decreased sensory nerve conduction velocity Positive Romberg sign Abnormality of cardiovascular system physiology Abnormal saccadic eye movements Sinus tachycardia Hand muscle atrophy Reduced systolic function Structural foot deformity Atrophic superior cerebellar peduncle Myocardial fibrosis Shoulder girdle muscle weakness Acute rhabdomyolysis Multiple mitochondrial DNA deletions Impaired distal proprioception Nocturia Impaired distal vibration sensation Cytochrome C oxidase-negative muscle fibers Muscle fiber necrosis Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Testicular atrophy Abnormality of the mitochondrion Skeletal myopathy Absent Achilles reflex Reduced ejection fraction Hypomimic face Proximal muscle weakness EMG: myopathic abnormalities Bradykinesia Abnormality of extrapyramidal motor function Primary amenorrhea Frequent falls Progressive muscle weakness Hypergonadotropic hypogonadism Premature ovarian insufficiency Gonadal dysgenesis Increased variability in muscle fiber diameter Difficulty climbing stairs Hypokinesia Resting tremor Exertional dyspnea Secondary amenorrhea Areflexia of lower limbs Increased reactive oxygen species production Progressive ophthalmoplegia Insomnia Blood group antigen abnormality Recurrent singultus Abnormal corpus striatum morphology Caudate atrophy Abnormal lactate dehydrogenase activity Abnormal social behavior Impaired temperature sensation Generalized limb muscle atrophy Increased muscle fatiguability Hyporeflexia of lower limbs Excessive salivation Orofacial dyskinesia Left bundle branch block Ventricular extrasystoles Restlessness Hyporeflexia of upper limbs Phonic tics Pneumonia Muscular dystrophy Aspiration Abnormality of the musculature Aspiration pneumonia Abetalipoproteinemia 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 Abnormal facial expression Abnormality of the astrocytes Ketoacidosis Limb ataxia Urinary bladder sphincter dysfunction Abnormal EKG Thoracic scoliosis Optic neuropathy Hyperactive deep tendon reflexes Decreased motor nerve conduction velocity Hammertoe Impaired vibratory sensation Dysdiadochokinesis Incoordination Slurred speech Muscle stiffness Insulin resistance Spastic gait Lower limb spasticity Hyperactivity Unsteady gait Reduced visual acuity Pes planus Difficulty walking Pallor Abnormal pyramidal sign Abnormality of the foot Falls Clumsiness Inability to walk Neurodegeneration Progressive cerebellar ataxia Peripheral demyelination Optic disc pallor Intention tremor Subsarcolemmal accumulations of abnormally shaped mitochondria Quadriceps muscle weakness Abnormal mitochondrial morphology Pulmonary embolism Visual hallucinations Tubulointerstitial nephritis Renal tubular dysfunction Aortic dissection Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Hypoparathyroidism Xerostomia Vitiligo Hashimoto thyroiditis Atopic dermatitis Distal arthrogryposis Primary adrenal insufficiency Wolff-Parkinson-White syndrome Dysphasia Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Bundle branch block Aphasia Vestibular dysfunction Hyperkalemia Abnormality of immune system physiology Multiple lipomas Vertebral fusion Progressive sensorineural hearing impairment Glomerulopathy Basal ganglia calcification Thyroiditis Increased CSF lactate Cerebral ischemia Hemiplegia/hemiparesis Persistence of primary teeth Paronychia Spotty hypopigmentation Abnormal macular morphology Hemeralopia Crohn's disease Abnormality of the cerebellar vermis Psychotic episodes Tubulointerstitial abnormality Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Spontaneous hematomas Leber optic atrophy Writer's cramp Reduced consciousness/confusion Proximal tubulopathy Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Ileus Muscle fiber atrophy Hemianopia Abnormality of the renal tubule Episodic vomiting Motor polyneuropathy Dysesthesia Psychomotor deterioration Focal segmental glomerulosclerosis Mask-like facies Focal white matter lesions Abnormality of the pinna Hirsutism Polymicrogyria Nausea Anal atresia Malabsorption Nausea and vomiting Carious teeth Generalized tonic-clonic seizures Pruritus Neurological speech impairment Attention deficit hyperactivity disorder Nyctalopia Erythema Protruding ear Developmental regression Generalized myoclonic seizures Cerebellar hypoplasia Hyperreflexia Fever Blindness Vomiting Diarrhea Encephalopathy Rod-cone dystrophy Proteinuria Abdominal pain Weight loss Autism Jaundice Photophobia EEG abnormality Polyneuropathy Sudden cardiac death Bifid scrotum Purpura Aplasia/Hypoplasia of the cerebellum Intestinal obstruction Hyponatremia Bilateral ptosis Hypercalciuria Decreased nerve conduction velocity Chronic kidney disease Growth abnormality Hyperkinesis Schizophrenia Mutism Hypopigmented skin patches Pancreatitis Macular degeneration Type I diabetes mellitus Specific learning disability Status epilepticus Cerebral calcification Abnormality of the cardiovascular system Bilateral sensorineural hearing impairment Nephrotic syndrome Type II diabetes mellitus Pulmonary arterial hypertension Psychosis Hypogonadotrophic hypogonadism Hypertrichosis Anorexia Gingival overgrowth Abnormality of retinal pigmentation Clonus Generalized hirsutism Progressive ptosis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Arthritis and Migraine, related diseases and genetic alterations