Myopathy, and Progressive hearing impairment

Diseases related with Myopathy and Progressive hearing impairment

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


Top matches:

Medium match USHER SYNDROME, TYPE IIIB; USH3B


Usher syndrome type III is characterized by postlingual, progressive hearing loss, variable vestibular dysfunction, and onset of retinitis pigmentosa symptoms, including nyctalopia, constriction of the visual fields, and loss of central visual acuity, usually by the second decade of life (Karjalainen et al., 1985; Pakarinen et al., 1995).For a discussion of genetic heterogeneity of type III Usher syndrome, see USH3A (OMIM ).

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Visual impairment
  • Myopathy


SOURCES: OMIM MENDELIAN

More info about USHER SYNDROME, TYPE IIIB; USH3B

Medium match CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME


Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is a rare, genetic, mitochondrial myopathy disorder characterized by congenital cataract, progressive muscular hypotonia that particularly affects the lower limbs, reduced deep tendon reflexes, sensorineural hearing loss, global development delay and lactic acidosis. Muscle biopsy reveals reduced complex I, II and IV respiratory chain activity.

CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME Is also known as myopathy with cataract and combined respiratory chain deficiency|mitochondrial complex deficiency, combined|congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about CONGENITAL CATARACT-PROGRESSIVE MUSCULAR HYPOTONIA-HEARING LOSS-DEVELOPMENTAL DELAY SYNDROME

Medium match WOLFRAM-LIKE SYNDROME


Wolfram-like syndrome is a rare endocrine disease characterized by the triad of adult-onset diabetes mellitus, progressive hearing loss (usually presenting in the first decade of life and principally of low to moderate frequencies), and/or juvenile-onset optic atrophy. Psychiatric (i.e. anxiety, depression, hallucinations) and sleep disorders, the only neurologic abnormalities observed in this disease, have been reported in rare cases. Unlike Wolfram syndrome, patients with Wolfram-like syndrome do not report endocrine or cardiac findings.

WOLFRAM-LIKE SYNDROME Is also known as hearing loss, progressive, with optic atrophy and/or impaired glucose regulation

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Visual impairment
  • Peripheral neuropathy


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WOLFRAM-LIKE SYNDROME

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Other less relevant matches:

Medium match OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY


Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).

OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY Is also known as dominant optic atrophy plus syndrome|doa+

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Strabismus
  • Sensorineural hearing impairment


SOURCES: OMIM MENDELIAN

More info about OPTIC ATROPHY WITH OR WITHOUT DEAFNESS, OPHTHALMOPLEGIA, MYOPATHY, ATAXIA, AND NEUROPATHY

Medium match GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM


Glycogen storage disease III is an autosomal recessive metabolic disorder caused by deficiency of the glycogen debrancher enzyme and associated with an accumulation of abnormal glycogen with short outer chains. Most patients are enzyme-deficient in both liver and muscle (IIIa), but about 15% are enzyme-deficient in liver only (IIIb) (Shen et al., 1996). These subtypes have been explained by differences in tissue expression of the deficient enzyme (Endo et al., 2006). In rare cases, selective loss of only 1 of the 2 debranching activities, glucosidase or transferase, results in type IIIc or IIId, respectively. (Van Hoof and Hers, 1967; Ding et al., 1990).Clinically, patients with GSD III present in infancy or early childhood with hepatomegaly, hypoglycemia, and growth retardation. Muscle weakness in those with IIIa is minimal in childhood but can become more severe in adults; some patients develop cardiomyopathy (Shen et al., 1996).Lucchiari et al. (2007) provided a review of GSD III.

GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM Is also known as glycogenosis type iv, childhood combined hepatic and myopathic form|gde deficiency|glycogen storage disease type iv, childhood combined hepatic and myopathic form|gsd type 4, childhood combined hepatic and myopathic form|glycogenosis due to glycogen branc

Related symptoms:

  • Seizures
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO GLYCOGEN BRANCHING ENZYME DEFICIENCY, CHILDHOOD COMBINED HEPATIC AND MYOPATHIC FORM

Medium match MATERNALLY-INHERITED DIABETES AND DEAFNESS


Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Medium match SPINOCEREBELLAR ATAXIA WITH EPILEPSY


Spinocerebellar ataxia with epilepsy is a rare, mitochondrial DNA maintenance syndrome characterized by cerebellar ataxia, sensory peripheral neuropathy, myoclonus, epilepsy, progressive cognitive impairment, late-onset ptosis and external ophthalmoplegia. Liver failure may also occur, most often in association with the use of antiepileptic drug sodium valproate.

SPINOCEREBELLAR ATAXIA WITH EPILEPSY Is also known as mitochondrial spinocerebellar ataxia with epilepsy|mscae|sensory ataxic neuropathy with mitochondrial dna deletions, autosomal recessive|scae

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA WITH EPILEPSY

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 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 WILLIAMS SYNDROME


Williams syndrome is a rare genetic multisystemic neurodevelopmental disorder characterized by a distinct facial appearance, cardiac anomalies (most frequently supravalvular aortic stenosis), cognitive and developmental abnormalities, and connective tissue abnormalities (such as joint laxity)

WILLIAMS SYNDROME Is also known as deletion 7q11.23|williams syndrome|williams-beuren syndrome|chromosome 7q11.23 deletion syndrome, 1.5- to 1.8-mb|wms|monosomy 7q11.23|ws

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about WILLIAMS SYNDROME

Top 5 symptoms//phenotypes associated to Myopathy and Progressive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Ataxia Common - Between 50% and 80% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Ptosis Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Myopathy and Progressive hearing impairment. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Visual impairment

Common Symptoms - More than 50% cases


Ophthalmoplegia

Uncommon Symptoms - Between 30% and 50% cases


Cataract Peripheral neuropathy Cognitive impairment Gait disturbance Cardiomyopathy External ophthalmoplegia Diabetes mellitus Ragged-red muscle fibers Elevated serum creatine phosphokinase Dysarthria Depressivity Myalgia Progressive sensorineural hearing impairment Pain Progressive external ophthalmoplegia Optic atrophy Short stature Hypothyroidism Areflexia Dysphagia Congestive heart failure Bilateral ptosis Hypertrophic cardiomyopathy Nystagmus Ventricular hypertrophy Tremor Global developmental delay Vestibular dysfunction Type II diabetes mellitus Proximal muscle weakness Constipation Paresthesia Hyperreflexia Hyporeflexia Malabsorption Encephalopathy Proteinuria Hypogonadism Renal insufficiency Muscle cramps Status epilepticus Arrhythmia Hypertension Intellectual disability Cerebral cortical atrophy Growth delay Failure to thrive Skeletal muscle atrophy Migraine Increased serum lactate Ophthalmoparesis Schizophrenia Anxiety Lactic acidosis Respiratory insufficiency Peripheral axonal neuropathy Autism Dementia Bilateral sensorineural hearing impairment Psychosis Autistic behavior Hallucinations Visual loss Muscular hypotonia Generalized hypotonia

Rare Symptoms - Less than 30% cases


Sensory axonal neuropathy Abnormality of mitochondrial metabolism Cerebral visual impairment Ischemic stroke Sensory ataxia Hypercalciuria Pallor Nyctalopia Brain atrophy Rod-cone dystrophy Hypogonadotrophic hypogonadism Photophobia Dilated cardiomyopathy Gliosis Abnormality of lipid metabolism Horizontal nystagmus Truncal ataxia Abnormality of the kidney Vertigo Pigmentary retinopathy Aplasia/Hypoplasia of the cerebellum Bundle branch block Blindness Generalized myoclonic seizures Headache Myoclonus Weight loss Gait ataxia Acidosis EEG abnormality Mental deterioration Polyneuropathy Gastroparesis Cerebral atrophy Cytochrome C oxidase-negative muscle fibers Abdominal pain Dysmetria Abnormality of the dentition Hypertonia Kyphosis Delayed skeletal maturation Cerebellar hypoplasia Osteoporosis Gastroesophageal reflux Feeding difficulties Nausea and vomiting Carious teeth Feeding difficulties in infancy Developmental regression Protruding ear Attention deficit hyperactivity disorder Stroke Respiratory distress Microcephaly Multiple mitochondrial DNA deletions Amenorrhea Subsarcolemmal accumulations of abnormally shaped mitochondria Fatigue Reduced visual acuity Gingival overgrowth Involuntary movements Hemiparesis Memory impairment Left ventricular hypertrophy Mitochondrial myopathy Exercise intolerance Abnormality of the cardiovascular system Mutism Dysphonia Sudden cardiac death Insomnia Postural instability Visual hallucinations Glomerulopathy Neurological speech impairment Abnormality of the pinna Anemia Cerebral ischemia Increased variability in muscle fiber diameter Delayed puberty Reduced tendon reflexes Retinopathy Cerebellar atrophy Dystonia Scarring Full cheeks Abnormality of the liver Glaucoma Pes cavus Intellectual disability, mild Congenital cataract Malar flattening Midface retrusion Abnormality of eye movement Tubulointerstitial nephritis Broad nasal tip Progressive cerebellar ataxia Progressive muscle weakness Glucose intolerance Tubulointerstitial abnormality Gait imbalance Depressed nasal bridge Hepatomegaly Spasticity Obesity Cardiomegaly Otitis media Strabismus Prominent ear helix Morphological abnormality of the inner ear Mitral valve prolapse Myocardial infarction Thick lower lip vermilion Hypoplasia of penis Cleft palate Renal hypoplasia Coarctation of aorta Abnormal facial shape Micrognathia Hypsarrhythmia Abnormality of extrapyramidal motor function Small nail Morphological abnormality of the vestibule of the inner ear Scoliosis Recurrent urinary tract infections Bilateral intracranial calcifications Homonymous hemianopia Spotty hypopigmentation Hemivertebrae Paronychia Abnormal mitochondrial morphology Edema of the dorsum of hands Cochlear malformation Progressive night blindness Pointed chin Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Increased body weight Episodic quadriplegia Increased bone mineral density Narrow face Hoarse voice Aortic valve stenosis Amblyopia Nephrolithiasis Flexion contracture Abnormal form of the vertebral bodies Mitral regurgitation Open mouth Recurrent otitis media Abnormality of acid-base homeostasis Cryptorchidism High forehead Hypotelorism Low-set, posteriorly rotated ears Pectus excavatum Small for gestational age Broad forehead Abnormal cardiac septum morphology Patent ductus arteriosus Blepharophimosis Nephrocalcinosis Craniosynostosis Wide mouth Joint stiffness Paralysis Irritability Hyperlordosis Abnormal heart morphology Absent speech Inguinal hernia Clinodactyly of the 5th finger Intellectual disability, moderate Cleft lip Recurrent respiratory infections Joint laxity Micropenis Pes planus Umbilical hernia Coarse facial features Arthralgia Osteopenia Kyphoscoliosis Hernia Corneal opacity Narrow forehead Sleep disturbance Delayed speech and language development Tetralogy of Fallot Epicanthus Dehydration Macrotia Renal agenesis Wide nasal bridge Esotropia Dental malocclusion Vesicoureteral reflux Chest pain Macroglossia Hypodontia Myopia Long philtrum Everted lower lip vermilion Thick vermilion border Oral cleft Intrauterine growth retardation Macrocephaly Ventricular septal defect Smooth philtrum Joint hyperflexibility Genu valgum Atrial septal defect Pulmonic stenosis Behavioral abnormality Short nose Microdontia Abnormality of dental morphology Abnormality of dental enamel Arterial stenosis Aplasia/Hypoplasia of the iris Abnormal endocardium morphology Overfriendliness Thyroid hypoplasia Early onset of sexual maturation Retinal vascular tortuosity Increased nuchal translucency Abnormal glucose tolerance Urethral stenosis Parathyroid hyperplasia Phonophobia Abnormality of nervous system morphology Dysgraphia Rectal prolapse Colonic diverticula Periorbital edema Peptic ulcer Cystic renal dysplasia Bladder diverticulum Lacrimation abnormality Abnormal renal morphology Subvalvular aortic stenosis Dyssynergia Stellate iris Functional abnormality of male internal genitalia Peripheral pulmonary artery stenosis Decreased plasma carnitine Periorbital fullness Renal duplication Vascular tortuosity Dyslexia Pelvic kidney Abnormal carotid artery morphology Paroxysmal bursts of laughter Myxomatous mitral valve degeneration Unilateral renal hypoplasia Calcification of the aorta Impaired visuospatial constructive cognition Supravalvular aortic stenosis Flat cornea Abnormal social behavior Renovascular hypertension Abnormality of the gastric mucosa Infantile hypercalcemia Food intolerance Hyperacusis Nystagmus-induced head nodding Retinal arteriolar tortuosity Coronary artery stenosis Renal artery stenosis Abnormality of the bladder Synostosis of joints Nocturia Obsessive-compulsive trait Aortic arch aneurysm Overriding aorta Medial flaring of the eyebrow Elfin facies Bilateral vocal cord paralysis Thyroid hemiagenesis Abnormality of the ankles Abnormality of refraction Villous atrophy Abnormality of the fingernails Redundant skin Tracheoesophageal fistula Hypoplastic toenails Abnormality of the diencephalon Unilateral renal agenesis Obsessive-compulsive behavior Chronic otitis media Nephritis Abnormality of the voice Portal hypertension Precocious puberty Radioulnar synostosis Failure to thrive in infancy Hypercalcemia Cholelithiasis Loss of consciousness Polycystic ovaries Incoordination Abnormality of pelvic girdle bone morphology Adducted thumb Reduced bone mineral density Arnold-Chiari malformation Infantile muscular hypotonia Sacral dimple Bicuspid aortic valve Widely spaced teeth Abnormal dermatoglyphics Cutis laxa Spina bifida occulta Polyuria Open bite Enuresis Hemeralopia Abnormality of the cerebral vasculature Abnormality of the neck Large earlobe Descending aorta hypoplasia Right ventricular hypertrophy Chronic constipation Vocal cord dysfunction Hypoplasia of the zygomatic bone Blue irides Vocal cord paralysis Down-sloping shoulders Multiple renal cysts Patellar dislocation Abnormality of the vasculature Hallux valgus Pulmonary artery stenosis Poor coordination Soft skin Nevus flammeus Arnold-Chiari type I malformation Posterior embryotoxon Megalocornea Restlessness Facial cleft Prematurely aged appearance High hypermetropia Celiac disease Vertebral segmentation defect Premature graying of hair Abnormal macular morphology Type I diabetes mellitus Crohn's disease Distal sensory impairment Hyperventilation Axonal loss Centrally nucleated skeletal muscle fibers Decreased number of peripheral myelinated nerve fibers Gaze-evoked nystagmus Axonal degeneration Mildly elevated creatine phosphokinase Impotence Limb ataxia Frequent falls Neuronal loss in central nervous system Focal-onset seizure Falls Intestinal pseudo-obstruction Distal muscle weakness Pneumonia Abnormal chorioretinal morphology Left bundle branch block Retinal atrophy Abnormal retinal morphology Macular dystrophy Hyperglycemia Constriction of peripheral visual field Pancytopenia Retinal degeneration Unsteady gait Progressive gait ataxia Positive Romberg sign Periportal fibrosis Diplopia Motor delay Hypertelorism Limb-girdle muscle weakness Bipolar affective disorder Resting tremor Abnormality of the thyroid gland Coronary artery atherosclerosis Ventricular fibrillation Apathy Premature ovarian insufficiency EMG: myopathic abnormalities Bradycardia Bradykinesia Acute encephalopathy Parkinsonism Generalized muscle weakness Sensory neuropathy Lower limb muscle weakness Limb muscle weakness Severe global developmental delay Rigidity Atrophy/Degeneration involving the spinal cord Sensory ataxic neuropathy Impaired distal proprioception Impaired distal vibration sensation Muscle fiber necrosis Ketotic hypoglycemia Micronodular cirrhosis Ventriculomegaly Diabetes insipidus Spastic paraplegia Moderate hearing impairment Primary gonadal insufficiency Central diabetes insipidus Abnormality of the upper urinary tract Gastrointestinal dysmotility Male hypogonadism Severe postnatal growth retardation Severe vision loss Optic neuropathy Scotoma Abnormality of color vision Congenital sensorineural hearing impairment Progressive visual loss Abnormal muscle fiber protein expression Decreased serum ferritin Infantile axial hypotonia Decreased activity of mitochondrial respiratory chain Rotary nystagmus Muscular hypotonia of the trunk Hypoplasia of the corpus callosum Inappropriate laughter Agitation Delayed gross motor development Broad-based gait Optic disc pallor Paraplegia Abnormal electroretinogram Skeletal myopathy Cirrhosis Recurrent corneal erosions Ketosis Recurrent sinusitis Hyperlipidemia Sinusitis Decreased liver function Hepatic fibrosis Hypertriglyceridemia Epistaxis Distal amyotrophy Hepatic failure Thin vermilion border Carcinoma Macrocytic anemia Elevated hepatic transaminase Deeply set eye Hypoglycemia Thin upper lip vermilion Immunodeficiency Anteverted nares Abnormal amplitude of pattern reversal visual evoked potentials Centrocecal scotoma Tritanomaly Red-green dyschromatopsia Abnormal auditory evoked potentials Episodic ataxia Central scotoma Fever Short neck Abnormality of the cerebellar vermis Atopic dermatitis Facial diplegia Cardiorespiratory arrest Delusions Transient ischemic attack Posterior subcapsular cataract Hypoparathyroidism Heart block Xerostomia Vitiligo Neonatal hypoglycemia Abnormality of visual evoked potentials Hashimoto thyroiditis Drowsiness Renal tubular dysfunction Distal arthrogryposis Pulmonary embolism Primary adrenal insufficiency Abnormality of immune system physiology Thyroiditis Rhabdomyolysis Hyperthyroidism Basal ganglia calcification Vertebral fusion Multiple lipomas Prolonged QT interval Visual field defect Aortic dissection Increased CSF lactate Dysphasia Motor polyneuropathy Psychotic episodes Renal Fanconi syndrome Abnormal nerve conduction velocity Auditory hallucinations Amaurosis fugax Spontaneous hematomas Leber optic atrophy Persistence of primary teeth Writer's cramp Muscle fiber atrophy Psychomotor deterioration Dysesthesia Episodic vomiting Wolff-Parkinson-White syndrome Abnormality of the renal tubule Hemianopia Ileus Proximal tubulopathy Abnormality of peripheral nerve conduction Retinal pigment epithelial atrophy Speech apraxia Left ventricular failure Seborrheic dermatitis Stroke-like episode Anterior hypopituitarism Reduced consciousness/confusion Hyperkalemia Aphasia Vomiting Polymicrogyria Atrial fibrillation Pulmonary arterial hypertension Nephrotic syndrome Generalized-onset seizure Cerebral calcification Specific learning disability Hip dysplasia Sensory impairment Abnormal cerebellum morphology Coma Nephropathy Hirsutism Nausea Decreased body weight Ichthyosis Confusion Anal atresia Arthrogryposis multiplex congenita Lethargy Generalized tonic-clonic seizures Pruritus Erythema Apnea Jaundice Dyspnea Diarrhea Hypertrichosis Anorexia Adrenal insufficiency Cachexia Overlapping toe Abnormality of neuronal migration Focal segmental glomerulosclerosis Hemiplegia/hemiparesis Mask-like facies Bifid scrotum Intestinal obstruction Personality changes Hyponatremia Aortic aneurysm Hemiplegia Decreased nerve conduction velocity Atrioventricular block Abnormality of retinal pigmentation Chronic kidney disease Growth abnormality Easy fatigability Hyperkinesis Goiter Hypopigmented skin patches Pancreatitis Macular degeneration Purpura Generalized hirsutism EMG abnormality Cardiac arrest Clonus Atrophy/Degeneration involving the corticospinal tracts



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