Ataxia, and Hyperinsulinemia

Diseases related with Ataxia and Hyperinsulinemia

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


Top matches:

Medium match HYPOGLYCEMIA, LEUCINE-INDUCED; LIH


HYPOGLYCEMIA, LEUCINE-INDUCED; LIH Is also known as leucine-sensitive hypoglycemia of infancy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Strabismus
  • Spasticity


SOURCES: OMIM MESH MENDELIAN

More info about HYPOGLYCEMIA, LEUCINE-INDUCED; LIH

Medium match ALG6-CDG


ALG6-CDG is a form of congenital disorders of N-linked glycosylation characterized by feeding problems, mild-to-moderate neurologic involvement with hypotonia, poor head control, developmental delay, ataxia, strabismus, and seizures, ranging from febrile convulsions to epilepsy. Retinal degeneration has also been reported. A minority of patients show other manifestations, particularly intestinal (such as protein-losing enteropathy) and liver involvement. The disease is caused by loss of function mutations of the gene ALG6 (1p31.3).

ALG6-CDG Is also known as cdg1c|cdg ic|cdgs5, formerly|cdg-ic|carbohydrate-deficient glycoprotein syndrome, type i, with deficient glycosylation of dolichol-linked oligosaccharide, formerly|cdgic|congenital disorder of glycosylation type 1c|carbohydrate-deficient glycoprotein synd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ALG6-CDG

Medium match SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY


Severe neurodegenerative syndrome with lipodystrophy is a rare, genetic, neurodegenerative disorder characterized by progressive psychomotor and cognitive regression (manifesting with gait ataxia, spasticity, loss of language, mild to severe intellectual disability, pyramidal and extrapyramidal signs and, frequently, development of tretraplegia or tetraparesis) associated with variable degrees of lipodystrophy, hepatomegaly, hypertriglyceridemia and muscular hypertorphy. Hyperactivity, tremor and development of seizures may also be associated.

SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY Is also known as severe neurodegenerative syndrome due to bscl2 deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SEVERE NEURODEGENERATIVE SYNDROME WITH LIPODYSTROPHY

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Other less relevant matches:

Low match MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD


Congenital fiber-type disproportion (CFTD) myopathy is a genetically heterogeneous disorder in which there is relative hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy. However, these findings are not specific and can be found in many different myopathic and neuropathic conditions. Clarke and North (2003) stated that the diagnosis of 'congenital fiber-type disproportion' as a disease entity is one of exclusion. They also suggested that the nonspecific histologic findings should be termed 'fiber size disproportion,' thus reserving the term CFTD for those cases in which no secondary cause can be found.

MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD Is also known as cftdm|fiber-type disproportion myopathy, congenital

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, CONGENITAL, WITH FIBER-TYPE DISPROPORTION; CFTD

Low 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

Low 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

Low match TENORIO SYNDROME; TNORS


Tenorio syndrome is characterized by overgrowth, macrocephaly, and intellectual disability (ID). Some patients may have mild hydrocephaly, hypoglycemia, and inflammatory diseases resembling Sjogren syndrome (OMIM ) (summary by Tenorio et al., 2014).

TENORIO SYNDROME; TNORS Is also known as overgrowth, macrocephaly, and intellectual disability syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about TENORIO SYNDROME; TNORS

Low match PRADER-WILLI SYNDROME; PWS


Prader-Willi syndrome is characterized by diminished fetal activity, obesity, muscular hypotonia, mental retardation, short stature, hypogonadotropic hypogonadism, and small hands and feet. It can be considered to be an autosomal dominant disorder and is caused by deletion or disruption of a gene or several genes on the proximal long arm of the paternal chromosome 15 or maternal uniparental disomy 15, because the gene(s) on the maternal chromosome(s) 15 are virtually inactive through imprinting. Horsthemke and Wagstaff (2008) provided a detailed review of the mechanisms of imprinting of the Prader-Willi/Angelman syndrome (OMIM ) region.See also the chromosome 15q11-q13 duplication syndrome (OMIM ), which shows overlapping clinical features.

PRADER-WILLI SYNDROME; PWS Is also known as prader-labhart-willi syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PRADER-WILLI SYNDROME; PWS

Low match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4


Congenital generalized lipodystrophy type 4 combines the phenotype of classic Berardinelli-Seip lipodystrophy (OMIM ) with muscular dystrophy and cardiac conduction anomalies (Hayashi et al., 2009).For a general description and a discussion of genetic heterogeneity of congenital generalized lipodystrophy, see CGL1 (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4 Is also known as berardinelli-seip congenital lipodystrophy, type 4, with muscular dystrophy|lipodystrophy, berardinelli-seip congenital, type 4, with muscular dystrophy

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 4; CGL4

Low match TREMOR, HEREDITARY ESSENTIAL, 1; ETM1


Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


SOURCES: OMIM MENDELIAN

More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

Top 5 symptoms//phenotypes associated to Ataxia and Hyperinsulinemia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Insulin resistance Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Hyperinsulinemia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Hypoglycemia Strabismus Failure to thrive Generalized hypotonia Diabetes mellitus Congestive heart failure Glucose intolerance Growth delay Respiratory failure Feeding difficulties Myopathy Hepatomegaly Hypertension Delayed speech and language development Cognitive impairment Osteopenia Nystagmus Short stature Vomiting Respiratory tract infection Hyperreflexia Cryptorchidism Hypogonadism Weight loss High palate Dystonia Hypothyroidism Hepatic steatosis Sleep disturbance Respiratory insufficiency Tremor Clumsiness Irritability Postnatal growth retardation Hypertriglyceridemia Hypermetropia Hirsutism Fever Fatigue Ventriculomegaly Polycystic ovaries Lipodystrophy Acanthosis nigricans Dilatation Growth hormone deficiency Neonatal hypotonia Hearing impairment

Rare Symptoms - Less than 30% cases


Insulin-resistant diabetes mellitus Abnormality of the liver Increased body weight Pes planus Abnormality of the kidney Visual impairment Upslanted palpebral fissure Type II diabetes mellitus Epicanthus Epidermal acanthosis Neoplasm Micrognathia Abnormal facial shape Rigidity Cataract Specific learning disability Renal insufficiency Hydrocephalus Respiratory distress Abnormality of the skeletal system Intrauterine growth retardation Patent ductus arteriosus Infertility Leukemia Kyphosis Recurrent respiratory infections Pneumonia Constipation Hyporeflexia Intellectual disability, mild Clinodactyly Depressivity Obesity Abnormal renal morphology Chromosome breakage Splenomegaly Behavioral abnormality Osteoporosis Abnormality of the dentition Talipes equinovarus Anxiety Motor delay Pain Apnea Gait disturbance Autism Dolichocephaly Hypergonadotropic hypogonadism Gastrointestinal hemorrhage Hypopigmentation of the skin Tachycardia Oligohydramnios Glycosuria Recurrent urinary tract infections Delayed puberty Carious teeth Skeletal muscle hypertrophy Oligomenorrhea Gastroesophageal reflux Failure to thrive in infancy Reduced bone mineral density Myalgia Bradycardia Elevated hepatic transaminase Hydroureter Photophobia Myeloid leukemia Hepatosplenomegaly Hypogonadotrophic hypogonadism Almond-shaped palpebral fissure Accelerated skeletal maturation Polyphagia Dysphagia Flexion contracture Ptosis Muscle weakness Generalized lipodystrophy Reduced subcutaneous adipose tissue Generalized hirsutism Mental deterioration Truncal obesity Hyperactivity Myoclonus Encephalopathy Cerebral atrophy Frontal balding Proximal muscle weakness Alopecia of scalp Hepatic failure Muscular hypotonia of the trunk Areflexia Recurrent infections Blindness Intellectual disability, severe Edema Dysarthria Muscular hypotonia Hyperinsulinemic hypoglycemia Hypoventilation Vertigo Spasticity Cardiomyopathy Cirrhosis Precocious puberty Ophthalmoplegia Pancreatitis Poor fine motor coordination Hyperlipidemia Atherosclerosis Generalized muscle weakness Hyperglycemia Atrial fibrillation Infantile muscular hypotonia Dilated cardiomyopathy Muscular dystrophy Decreased fetal movement Abnormality of renal calyx morphology Macrocephaly Abnormality of the femoral head Recurrent cystitis Vitreous haze Localized hirsutism Widely-spaced incisors Chronic fatigue Recurrent bronchitis Tubular atrophy Male hypogonadism Abnormality of prothrombin Achromatopsia EEG with occipital slowing Myocarditis Elevated serum creatinine Abnormal retinal artery morphology Oligospermia Myocardial fibrosis Precocious puberty in females Acute hepatic failure Conjunctivitis Right ventricular hypertrophy Cerebral cortical atrophy Hypertrichosis Overgrowth Syncope Macroglossia Wide nose Thick eyebrow Abnormality of female external genitalia Telecanthus Urethral stenosis Broad foot Mandibular prognathia Ketoacidosis Anteverted nares Multinodular goiter Bull's eye maculopathy Vertical nystagmus Increased total bilirubin Hematemesis Gingivitis Melena Pendular nystagmus Acute pancreatitis Tubulointerstitial nephritis Attenuation of retinal blood vessels Glue ear Abnormality of the optic disc Unilateral breast hypoplasia Female hypogonadism Pyelonephritis Menstrual irregularities Squared iliac bones Renovascular hypertension Endocardial fibroelastosis Retinal pigment epithelial atrophy Disinhibition Urinary retention Abnormal renal physiology Albuminuria Abnormal muscle tone Abnormal left ventricle morphology Urethral obstruction Impaired temperature sensation Testicular atrophy Urethral stricture Tubulointerstitial fibrosis Abnormal spermatogenesis Elevated C-reactive protein level Abnormal chorioretinal morphology Epigastric pain Abnormality of dental color Lumbar scoliosis Abnormality of the urethra Arteriosclerosis Decreased HDL cholesterol concentration Abnormality of the pituitary gland Dilatation of the bladder Restrictive cardiomyopathy Thickened ears Chronic infection Granular macular appearance Receptive language delay Hyperostosis frontalis interna Decreased glomerular filtration rate Chronic active hepatitis Chills Abnormal adipose tissue morphology Chronic obstructive pulmonary disease Esophageal varix Nonproductive cough Hypoplastic male external genitalia Exudative retinopathy Increased circulating androgen level High-frequency sensorineural hearing impairment Hepatic encephalopathy Childhood-onset truncal obesity High-frequency hearing impairment Multifocal atrial tachycardia ST segment depression Ovarian cyst Facial hirsutism Chronic hepatic failure Hepatic necrosis First degree atrioventricular block Radial deviation of finger Cerebral palsy Recurrent bacterial infections Thin skin Long eyelashes Sparse and thin eyebrow Muscle stiffness Pointed chin Exercise intolerance Ventricular tachycardia Ventricular hypertrophy Delayed gross motor development Ventricular arrhythmia Pyloric stenosis Prominent supraorbital ridges Ventricular fibrillation Cutis marmorata Increased variability in muscle fiber diameter Palpitations Sudden cardiac death Prolonged QT interval Poor gross motor coordination Temperature instability Central adrenal insufficiency Hypoplastic labia minora Psychotic episodes Narrow palm Hypopnea Acromicria Spastic paraplegia Arrhythmia Elevated serum creatine phosphokinase Delayed skeletal maturation Hyperlordosis Protruding ear Joint stiffness Distal muscle weakness Mildly elevated creatine phosphokinase Spinal rigidity Disseminated intravascular coagulation Parkinsonism Cervical spine instability Abnormality of skeletal muscle fiber size Muscle mounding Adipose tissue loss Dementia Abnormality of movement Migraine Prominent umbilicus Memory impairment Abnormality of extrapyramidal motor function Postural tremor Personality changes Resting tremor Hand tremor Head tremor Generalized muscle hypertrophy Abnormality of upper lip Lipoatrophy Ileus Secondary amenorrhea IgA deficiency Protuberant abdomen Progressive proximal muscle weakness Supraventricular tachycardia Prominent superficial veins Exercise-induced myalgia Prolonged QTc interval Congenital generalized lipodystrophy Atlantoaxial dislocation Dysmenorrhea Loss of subcutaneous adipose tissue in limbs Fasting hyperinsulinemia Abnormal levels of creatine kinase in blood Polymorphic ventricular tachycardia Atlantoaxial instability Triangular mouth Erysipelas Keratitis Downturned corners of mouth Stroke Pruritus Genu valgum Arachnodactyly Polymicrogyria Short palm Small hand Abnormality of the pinna Short foot Tapered finger Sepsis Full cheeks Esotropia Febrile seizures Hip dysplasia Attention deficit hyperactivity disorder Abnormality of the nervous system Abnormality of the cardiovascular system Cavum septum pellucidum Delayed cranial suture closure Keratoconjunctivitis sicca Raynaud phenomenon Hemihypertrophy Large forehead Stomatitis Recurrent aphthous stomatitis Hypoinsulinemia Thin upper lip vermilion Depressed nasal bridge Myopia Short nose Syndactyly Prominent forehead Micropenis Narrow mouth Amenorrhea Narrow forehead Frontal upsweep of hair Acrocyanosis Pulmonary embolism Hypopigmentation of hair Iris hypopigmentation Abnormality of lipid metabolism Central hypotonia Overweight Hypoplasia of the fovea Impaired pain sensation Ocular albinism Hypothermia Generalized hypopigmentation Cor pulmonale Abdominal obesity Anteverted ears Clitoral hypoplasia Striae distensae Narrow nasal bridge Psychosis Scrotal hypoplasia Cutaneous photosensitivity Primary amenorrhea Aortic valve stenosis Spontaneous abortion Narrow palpebral fissure Bicuspid aortic valve Sleep apnea Poor suck External genital hypoplasia Nasal speech Emotional lability Large hands Inflammation of the large intestine Albinism Adrenal insufficiency Decreased muscle mass Posterior subcapsular cataract Decreased testicular size Poor coordination Abnormality of skin pigmentation Short thumb Cafe-au-lait spot Telangiectasia Aganglionic megacolon Abnormality of the genital system Choanal atresia Short palpebral fissure Pancytopenia Sloping forehead Tetralogy of Fallot Renal agenesis Lymphoma Neutropenia Bruising susceptibility Astigmatism Spina bifida Anal atresia Facial asymmetry Abnormality of the foot Toe syndactyly Hip dislocation Finger syndactyly Small for gestational age Abnormal cardiac septum morphology Abnormality of the eye Hypertrophic cardiomyopathy Carcinoma Umbilical hernia Proptosis Severe short stature Abnormal vertebral morphology Bone marrow hypocellularity Abnormal heart morphology Acute myeloid leukemia Abnormality of the testis Abnormality of the uterus Aplastic anemia Abnormality of the upper limb B-cell lymphoma Arteriovenous malformation Abnormality of the ulna Abnormal eyelid morphology Hearing abnormality External ear malformation Irregular hyperpigmentation Aplasia/Hypoplasia of the radius Absent radius Abnormality of blood and blood-forming tissues Multiple cafe-au-lait spots Horseshoe kidney Abnormality of vision Type I diabetes mellitus Leukopenia Azoospermia Cranial nerve paralysis Renal hypoplasia/aplasia Hypopigmented skin patches Abnormality of the urinary system Absent thumb Myelodysplasia Triphalangeal thumb Tracheoesophageal fistula Hypoplasia of the ulna Squamous cell carcinoma Ectopic kidney Clinodactyly of the 5th finger Hypospadias Bicornuate uterus Elevated serum transaminases during infections Progressive psychomotor deterioration Progressive encephalopathy Loss of speech Limb dystonia Brisk reflexes Tetraparesis Status epilepticus Neuronal loss in central nervous system Abnormal pyramidal sign Developmental regression Coarse facial features Gait ataxia Hypertonia Cerebellar atrophy Reduced factor XI activity Poor motor coordination Reduced antithrombin III activity Increased serum testosterone level Type I transferrin isoform profile Protein-losing enteropathy Partial agenesis of the corpus callosum Abnormal intestine morphology Cerebral visual impairment Broad-based gait Intention tremor Dysmetria Agenesis of corpus callosum Hypoglycemic seizures Drowsiness Coma Caudate atrophy Reduced intraabdominal adipose tissue Thrombocytopenia Nemaline bodies Abnormality of cardiovascular system morphology Headache Microphthalmia Atrial septal defect Frontal bossing Anemia Cleft palate Hypertelorism Microcephaly Type 1 fibers relatively smaller than type 2 fibers Postprandial hyperglycemia Spinal deformities Abnormal glucose tolerance Limb joint contracture Difficulty running Skeletal muscle atrophy Lumbar hyperlordosis Joint laxity Facial palsy Limb muscle weakness Lower limb muscle weakness Long face Waddling gait Progressive muscle weakness Centrally nucleated skeletal muscle fibers Narrow face Congenital hip dislocation Respiratory insufficiency due to muscle weakness Multiple joint contractures Bulbar palsy Weak cry Abnormality of the thumb Abnormality of femur morphology Hyperventilation Decreased liver function Goiter Cone/cone-rod dystrophy Tachypnea Hypercholesterolemia Macular degeneration Absence seizures Nephrocalcinosis Horizontal nystagmus Recurrent pneumonia Short toe Gynecomastia Sinusitis Hyperpigmentation of the skin Hepatic fibrosis Abnormality of retinal pigmentation Cholelithiasis Anorexia Chronic diarrhea Thickened skin Left ventricular hypertrophy Involuntary movements Recurrent otitis media Pulmonary arterial hypertension Cardiomegaly Optic disc pallor Hepatitis Pigmentary retinopathy Cyanosis Progressive visual loss Otitis media Abnormality of the hand Elevated alkaline phosphatase Urinary incontinence Chorioretinal atrophy Peripheral visual field loss Retinal atrophy Severe sensorineural hearing impairment Autoimmune thrombocytopenia Thoracic scoliosis Pericarditis Subcapsular cataract Increased number of teeth Hyperuricemia Bronchitis Glomerulopathy Progressive sensorineural hearing impairment Agenesis of permanent teeth Short finger Pericardial effusion Portal hypertension Impaired vibratory sensation Polydipsia Nephritis Chronic otitis media Obsessive-compulsive behavior Aplasia/Hypoplasia of the cerebellum Constriction of peripheral visual field Acne Abnormal retinal morphology Hyperostosis Diabetes insipidus Polyuria Emphysema Pulmonary fibrosis Urinary urgency Round face Vesicoureteral reflux Acute monocytic leukemia Decreased fertility in males Sensorineural hearing impairment Abnormality of the preputium Pyridoxine-responsive sideroblastic anemia Aplasia/Hypoplasia of fingers Aplasia/Hypoplasia of the uvula Neoplasm of head and neck Deficient excision of UV-induced pyrimidine dimers in DNA Anemic pallor Prolonged G2 phase of cell cycle Abnormal carotid artery morphology Compensated hypothyroidism Absent testis Hypoplastic anemia Chromosomal breakage induced by crosslinking agents Clubbing of toes Optic atrophy Abnormality of nervous system morphology Abnormality of the hypothalamus-pituitary axis Abnormal aortic valve morphology Abnormal localization of kidney Abnormality of chromosome stability Reticulocytopenia Abnormal aortic morphology Primary hypothyroidism Partial duplication of thumb phalanx Duodenal stenosis Duplicated collecting system Meckel diverticulum Low-grade fever Aplasia/Hypoplasia of the iris Complete duplication of thumb phalanx Peripheral neuropathy Short neck Asthma Retinopathy Abdominal distention Ascites Nephropathy Retinal dystrophy Nausea Stage 5 chronic kidney disease Lymphadenopathy Retinal degeneration Dry skin Pulmonic stenosis Hypotrichosis Generalized tonic-clonic seizures Cough Nyctalopia Scarring Visual loss Dyspnea Alopecia Rod-cone dystrophy Hyperhidrosis Abdominal pain Polydactyly Hyperkeratosis Kyphoscoliosis Sparse hair Jaundice Deeply set eye Conductive hearing impairment Proteinuria Pallor Autistic behavior Kinetic tremor



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Microphthalmia and Hypopigmentation of the skin, related diseases and genetic alterations Autoimmunity and Agenesis of corpus callosum, related diseases and genetic alterations Brachydactyly and Clinodactyly of the 5th finger, related diseases and genetic alterations Ptosis and Lower limb muscle weakness, related diseases and genetic alterations Peripheral neuropathy and Generalized myoclonic seizures, related diseases and genetic alterations Cataract and Dementia, related diseases and genetic alterations

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