Skeletal muscle atrophy, and Nephropathy

Diseases related with Skeletal muscle atrophy and Nephropathy

In the following list you will find some of the most common rare diseases related to Skeletal muscle atrophy and Nephropathy that can help you solving undiagnosed cases.


Top matches:

Medium match COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1


Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Medium match WERNER SYNDROME


Werner syndrome (WS) is a rare inherited syndrome characterized by premature aging with onset in the third decade of life and with cardinal clinical features including bilateral cataracts, short stature, graying and thinning of scalp hair, characteristic skin disorders and premature onset of additional age-related disorders.

WERNER SYNDROME Is also known as ws|adult progeria

Related symptoms:

  • Short stature
  • Neoplasm
  • Pain
  • Cataract
  • Visual impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about WERNER SYNDROME

Medium match X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME


The association of X-linked Alport syndrome with leiomyomatosis of the esophagus, tracheobronchial tree or female genitals has been reported in more than 30 families.

X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME Is also known as xq22.3 microdeletion syndrome|chromosome xq22.3 centromeric deletion syndrome|alport syndrome and diffuse leiomyomatosis|leiomyomatosis, esophageal and vulval, with nephropathy|ats-dl

Related symptoms:

  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Cataract
  • Dysphagia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED DIFFUSE LEIOMYOMATOSIS-ALPORT SYNDROME

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Other less relevant matches:

Medium match LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1


Congenital generalized lipodystrophy (CGL), or Berardinelli-Seip syndrome, is a rare autosomal recessive disease characterized by a near absence of adipose tissue from birth or early infancy and severe insulin resistance. Other clinical and biologic features include acanthosis nigricans, muscular hypertrophy, hepatomegaly, altered glucose tolerance or diabetes mellitus, and hypertriglyceridemia (Garg, 2004). Genetic Heterogeneity of Congenital Generalized LipodystrophyCongenital generalized lipodystrophy type 2 (OMIM ) is caused by mutation in the BSCL2 gene (OMIM ). Congenital generalized lipodystrophy type 3 (OMIM ) is caused by mutation in the CAV1 gene (OMIM ). Congenital generalized lipodystrophy type 4 (OMIM ) is caused by mutation in the PTRF gene (OMIM ).

LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1 Is also known as berardinelli-seip congenital lipodystrophy, type 1|lipodystrophy, berardinelli-seip congenital, type 1|brunzell syndrome, agpat2-related|bscl1

Related symptoms:

  • Intellectual disability
  • Cognitive impairment
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: OMIM MENDELIAN

More info about LIPODYSTROPHY, CONGENITAL GENERALIZED, TYPE 1; CGL1

Low match BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY


Berardinelli-Seip congenital lipodystrophy (BSCL) is characterized by the association of lipoatrophy, hypertriglyceridemia, hepatomegaly and acromegaloid features. BSCL belongs to the group of extreme insulin resistance syndromes, which also includes leprechaunism, Rabson-Mendenhall syndrome, acquired generalized lipodystrophy, and types A and B insulin resistance (see these terms).

BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY Is also known as lipoatrophic diabetes|generalized congenital lipodystrophy|gcl|brunzell syndrome|bscl|beradinelli-seip syndrome

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about BERARDINELLI-SEIP CONGENITAL LIPODYSTROPHY

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 SOTOS SYNDROME 3; SOTOS3


Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Neoplasm
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about SOTOS SYNDROME 3; SOTOS3

Low match SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9


Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).

SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9 Is also known as mzsds|mainzer-saldino syndrome|renal dysplasia, retinal pigmentary dystrophy, cerebellar ataxia, and skeletal dysplasia|conorenal syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT-RIB THORACIC DYSPLASIA 9 WITH OR WITHOUT POLYDACTYLY; SRTD9

Low match SMITH-MAGENIS SYNDROME; SMS


SMITH-MAGENIS SYNDROME; SMS Is also known as chromosome 17p11.2 deletion syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about SMITH-MAGENIS SYNDROME; SMS

Low match NAIL-PATELLA SYNDROME; NPS


NAIL-PATELLA SYNDROME; NPS Is also known as turner-kieser syndrome|nps1|fong disease|onychoosteodysplasia

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Neoplasm


SOURCES: OMIM MENDELIAN

More info about NAIL-PATELLA SYNDROME; NPS

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Nephropathy

Symptoms // Phenotype % cases
Cataract Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Nephropathy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Renal insufficiency Hepatomegaly Peripheral neuropathy Failure to thrive Hearing impairment Hypertrophic cardiomyopathy Global developmental delay Diabetes mellitus Rod-cone dystrophy Proteinuria Mandibular prognathia Cardiomyopathy Hypertension Osteoporosis Pain Scoliosis Ataxia Congestive heart failure Cognitive impairment Growth delay Neoplasm Cleft lip Insulin resistance Skeletal muscle hypertrophy Nephrotic syndrome Paresthesia Cleft palate Splenomegaly Ventriculomegaly Abnormality of the dentition Umbilical hernia Hirsutism Hypertriglyceridemia Accelerated skeletal maturation Glomerulopathy Abnormality of the kidney Constipation Lipodystrophy Generalized hypotonia Nystagmus Muscle weakness Macroglossia Lipoatrophy Anemia Motor delay Hypertelorism Microcephaly Visual impairment Oral cleft Hypothyroidism Visual loss Hypogonadism

Rare Symptoms - Less than 30% cases


Dyspnea Abnormality of the cardiovascular system Dysphagia Congenital cataract Stage 5 chronic kidney disease Abnormality of the urinary system Hematuria Polycystic ovaries Confusion Secondary amenorrhea Omphalocele Acanthosis nigricans Nephrolithiasis Prominent metopic ridge Tall stature Hypertrichosis Microcornea Epidermal acanthosis Hepatic steatosis Vomiting Cirrhosis Elevated hepatic transaminase Hypercalciuria Posterior subcapsular cataract Hyperhidrosis Hernia Renal dysplasia Frontal bossing Hyperinsulinemia Gastroesophageal reflux Abnormality of skin pigmentation Pulmonary arterial hypertension Ventricular hypertrophy Atrial fibrillation Feeding difficulties in infancy Generalized hirsutism Pancreatitis Anxiety EEG abnormality Autism Hyperlordosis Cerebral cortical atrophy Delayed eruption of teeth Hyporeflexia Areflexia Depressivity Ptosis Feeding difficulties Recurrent urinary tract infections Respiratory insufficiency High forehead Myalgia Large hands Congenital generalized lipodystrophy Micrognathia Oligomenorrhea Pes planus Epicanthus Bone cyst Brachydactyly Clinodactyly of the 5th finger Generalized lipodystrophy Wide nasal bridge High pitched voice Delayed skeletal maturation Arthrogryposis multiplex congenita Lethargy Hypoplasia of the corpus callosum Edema Posteriorly rotated ears Neurological speech impairment Myopathy Prominent forehead Upslanted palpebral fissure Arrhythmia Polyphagia Wide anterior fontanel Short neck Hypergonadotropic hypogonadism Lactic acidosis Hepatic failure Postural instability Muscle cramps Macular degeneration Type I diabetes mellitus Hoarse voice Abnormality of the hair Memory impairment Abnormality of retinal pigmentation Specific learning disability Bilateral sensorineural hearing impairment Status epilepticus Decreased body weight Sparse scalp hair Stroke Retinal degeneration Behavioral abnormality Neonatal hypoglycemia Proptosis Drowsiness Focal segmental glomerulosclerosis Ophthalmoparesis Small hand Myocardial infarction Glomerulonephritis Coma Tubulointerstitial nephritis Ragged-red muscle fibers Type II diabetes mellitus Exercise intolerance Cryptorchidism Atherosclerosis Hyperreflexia Elevated serum creatine phosphokinase Polyhydramnios Cerebral atrophy Dysarthria Obesity Hyperactivity Cerebellar atrophy Encephalopathy Abnormality of cardiovascular system morphology Optic atrophy Intellectual disability, mild Myoclonus Respiratory distress Gait disturbance Fatigue Midface retrusion Abnormal facial shape Wide mouth Inguinal hernia Acidosis Tubulointerstitial abnormality Renal Fanconi syndrome Psychomotor deterioration Microdontia Psychotic episodes Narrow forehead Abnormality of the cerebellar vermis Crohn's disease Episodic vomiting Hemeralopia Abnormal macular morphology Depressed nasal bridge Abnormal nerve conduction velocity Auditory hallucinations Pneumonia Persistence of primary teeth Craniosynostosis Muscle fiber atrophy Scarring Low-set, posteriorly rotated ears Smooth philtrum Writer's cramp Motor polyneuropathy High palate Skeletal dysplasia Short distal phalanx of finger Bifid uvula Leber optic atrophy Postaxial polydactyly Retinal dystrophy Polydactyly Spontaneous hematomas Gastroparesis Amaurosis fugax Dysesthesia Renal cyst Spotty hypopigmentation Poor speech Paronychia Neurodevelopmental delay Otosclerosis Rhabdomyosarcoma Ureteral duplication Visceromegaly Gonadoblastoma Hemihypertrophy Diastasis recti Multiple renal cysts Nevus flammeus Enlarged kidney Exocrine pancreatic insufficiency Macrocephaly Polycythemia Neuroblastoma Prominent occiput Abnormality of earlobe Cardiomegaly Hypoglycemia Coarse facial features Vesicoureteral reflux Premature birth Prominent nose Congenital diaphragmatic hernia Large fontanelles Large for gestational age Sleep apnea Arnold-Chiari malformation Relative macrocephaly Redundant skin Nephroblastoma Melanocytic nevus Pseudohypoparathyroidism Asymmetric growth Abnormal mitochondrial morphology Episodic quadriplegia Edema of the dorsum of hands Cochlear malformation Progressive night blindness Cochlear degeneration Abnormal mitochondrial shape Subchorionic septal cyst Paralytic ileus Long face Large intestinal polyposis Homonymous hemianopia Abnormality of the shape of the midface Adrenocortical cytomegaly Abnormality of acid-base homeostasis Abnormality of pancreas morphology Bilateral intracranial calcifications Choroideremia Leiomyosarcoma Anterior creases of earlobe Prominent ear helix Morphological abnormality of the inner ear Morphological abnormality of the vestibule of the inner ear Hepatoblastoma Elevated alpha-fetoprotein Urogenital fistula Congenital megaureter Facial hemangioma Adrenocortical carcinoma Infra-orbital crease Branchial cyst Posterior helix pit Large placenta Abnormal cochlea morphology Intellectual disability, moderate Cholestasis Head-banging Pelvic kidney Abnormality of upper lip Morphological abnormality of the middle ear Abnormal tracheobronchial morphology Midline brain calcifications Abnormality of the forearm Frequent temper tantrums Hyperacusis Sleep-wake inversion Talipes equinovarus Pectus excavatum Glaucoma Nail dystrophy Talipes Cleft upper lip Premature atrial contractions Mood changes Lumbar hyperlordosis Broad face Overweight Self-mutilation Chronic constipation Short attention span Bruxism Duodenal atresia Thick upper lip vermilion Abnormality of the larynx Recurrent aspiration pneumonia Deep palmar crease Abnormal renal morphology Cavum septum pellucidum Recurrent ear infections Everted upper lip vermilion Velopharyngeal insufficiency Excessive daytime sleepiness Nail dysplasia Spina bifida Impaired pain sensation Hypoplastic radial head Absent distal interphalangeal creases Antecubital pterygium Deep-set nails Microphakia Hypoplasia of first ribs Glenoid fossa hypoplasia Iliac horns Thickening of the lateral border of the scapula Congenital nephrotic syndrome Stellate iris Quadriceps aplasia Disproportionate prominence of the femoral medial condyle Triceps aplasia Elongated radius Absence of pectoralis minor muscle Lester's sign Albuminuria Cervical ribs Aortic regurgitation Patellar dislocation Pterygium Nephritis Anonychia Limited elbow extension Colon cancer Keratoconus Renal cell carcinoma Abnormality of the elbow Microalbuminuria Blue irides Raynaud phenomenon Patellar aplasia Ridged nail Concave nail Patellar hypoplasia Aplasia/Hypoplasia of the patella Protruding tongue Broad palm Short phalanx of finger Strabismus Pyelonephritis Accessory oral frenulum Frontal upsweep of hair Aplasia of the middle phalanx of the hand Short proximal phalanx of finger Absence of renal corticomedullary differentiation Low-set ears Pancreatic cysts Delayed speech and language development Myopia Intrauterine growth retardation Anteverted nares Short nose Malar flattening Abnormality of metabolism/homeostasis Hypoplasia of the capital femoral epiphysis Congenital hepatic fibrosis Abnormal heart morphology Short femoral neck Exotropia Hepatic fibrosis Short ribs Cutis laxa Widely spaced teeth Trigonocephaly Cone-shaped epiphysis Short thorax Cholangitis Nephronophthisis Abnormal retinal morphology Acute kidney injury Scaphocephaly Recurrent lower respiratory tract infections Cone-shaped epiphyses of the phalanges of the hand Thoracic dysplasia Clinodactyly Pes cavus Abnormality of the immune system Abnormality of the outer ear Hypoplasia of dental enamel Stereotypy Sinusitis Abnormal vertebral morphology Increased body weight Lissencephaly Hypercholesterolemia Drooling Pachygyria Sacral dimple Poor suck Self-injurious behavior Impulsivity Open bite Abnormality of the thyroid gland Progressive spastic paraplegia Heterotopia Broad-based gait Brachycephaly Dry skin Deeply set eye Conductive hearing impairment Aggressive behavior Hemianopia Paralysis Microtia Synophrys Falls Decreased fetal movement Short palm Retinal detachment Sleep disturbance Single transverse palmar crease Full cheeks Esotropia Otitis media Abnormality of the renal tubule Reduced tendon reflexes Ileus Lenticonus Cough Asthma Wheezing Microscopic hematuria Macroscopic hematuria Thickening of the glomerular basement membrane High-frequency sensorineural hearing impairment Aplasia/Hypoplasia of the testes Diffuse glomerular basement membrane lamellation Diffuse leiomyomatosis Anterior lenticonus Tracheobronchial leiomyomatosis Dilatation Macrotia Acral lentiginous melanoma Neoplasm of the oral cavity Autoimmunity Narrow nasal ridge Abnormality of the testis Slender build White forelock Thyroid carcinoma Enlarged joints Arteriosclerosis Cutaneous melanoma Premature arteriosclerosis Chorioretinitis Soft tissue sarcoma Abnormal hair whorl Poliosis Subcutaneous calcification Neoplasm of the small intestine Gastrointestinal carcinoma Hepatosplenomegaly Triangular face Chondrocalcinosis Thickened skin Recurrent infections Osteopenia Abnormality of the foot Recurrent fractures Growth hormone deficiency Palpitations Bradycardia Flexion contracture Muscle stiffness Pyloric stenosis Prominent supraorbital ridges Precocious puberty Spinal rigidity IgA deficiency Growth hormone excess Immunodeficiency Generalized muscular appearance from birth Abnormality of the genital system Abnormality of the ovary Hyperlipidemia Clitoral hypertrophy Insulin-resistant diabetes mellitus Abnormality of lipid metabolism Long foot Angina pectoris Glioma Labial hypertrophy Acute pancreatitis Decreased fertility in females Decreased serum leptin Prominent umbilicus Insulin-resistant diabetes mellitus at puberty Reduced intrathoracic adipose tissue Cystic angiomatosis of bone Pili torti Lack of skin elasticity Broad foot Crescentic glomerulonephritis Scanning speech Steroid-resistant nephrotic syndrome Glutaric aciduria Recurrent myoglobinuria Exercise-induced myoglobinuria Rapid neurologic deterioration Alopecia Myoglobinuria Hyperkeratosis Micropenis Carcinoma Joint stiffness Retinopathy Leukemia Tubular atrophy Generalized amyotrophy Chest pain Progressive cerebellar ataxia Spasticity Respiratory failure Muscular hypotonia of the trunk Abnormal pyramidal sign Joint hyperflexibility Metabolic acidosis Aciduria Glomerulosclerosis Apraxia Pancytopenia Progressive neurologic deterioration Progressive muscle weakness Oculomotor apraxia Hyperextensible skin Failure to thrive in infancy Hypopigmentation of the skin Convex nasal ridge Peripheral arterial stenosis Premature loss of teeth Telangiectasia of the skin Scleroderma Myeloid leukemia Ovarian neoplasm Prematurely aged appearance Subcapsular cataract Alopecia of scalp Decreased fertility Neoplasm of the lung Pulmonary artery stenosis Progeroid facial appearance Meningioma Renal neoplasm Osteosarcoma Abnormality of the cerebral vasculature Aplasia/Hypoplasia of the skin Premature graying of hair Decreased testicular size Laryngomalacia Skin ulcer Narrow face Increased bone mineral density Spontaneous abortion Melanoma Breast carcinoma Sarcoma Squamous cell carcinoma Dermal atrophy Abnormality of the voice Myelodysplasia Polydipsia Abnormality of the thorax Rocker bottom foot Polyuria Progressive proximal muscle weakness Prominent superficial veins Proximal tubulopathy Bundle branch block Bifid scrotum Mask-like facies Hemiplegia/hemiparesis Abnormality of neuronal migration Overlapping toe Adrenal insufficiency Aphasia Intestinal obstruction Vestibular dysfunction Dysphasia Hyperkalemia Visual field defect Prolonged QT interval Multiple lipomas Aplasia/Hypoplasia of the cerebellum Personality changes Progressive sensorineural hearing impairment Growth abnormality Hypopigmented skin patches Mutism Schizophrenia Goiter Hyperkinesis Easy fatigability Chronic kidney disease Hyponatremia Atrioventricular block Cachexia Decreased nerve conduction velocity Bilateral ptosis Hemiplegia Aortic aneurysm Abnormality of mitochondrial metabolism Vertebral fusion Basal ganglia calcification External ophthalmoplegia Reduced consciousness/confusion Aortic dissection Renal tubular dysfunction Visual hallucinations Increased CSF lactate Wolff-Parkinson-White syndrome Cerebral ischemia Gait imbalance Cardiorespiratory arrest Anterior hypopituitarism Stroke-like episode Seborrheic dermatitis Left ventricular failure Speech apraxia Retinal pigment epithelial atrophy Abnormality of peripheral nerve conduction Facial diplegia Delusions Hyperthyroidism Atopic dermatitis Rhabdomyolysis Thyroiditis Abnormality of immune system physiology Primary adrenal insufficiency Pulmonary embolism Distal arthrogryposis Hashimoto thyroiditis Transient ischemic attack Abnormality of visual evoked potentials Vitiligo Xerostomia Heart block Hypoparathyroidism Mitochondrial myopathy Progressive external ophthalmoplegia Ischemic stroke Purpura Exercise-induced myalgia Mental deterioration Abdominal pain Gait ataxia Weight loss Jaundice Photophobia Apnea Developmental regression Cerebellar hypoplasia Abnormality of the pinna Protruding ear Erythema Abnormality of the liver Nyctalopia Attention deficit hyperactivity disorder Dilated cardiomyopathy Dementia Headache Generalized tonic-clonic seizures Abnormal levels of creatine kinase in blood Arterial stenosis Prolonged QTc interval Loss of subcutaneous adipose tissue in limbs Dysmenorrhea Atlantoaxial dislocation Abnormal oral cavity morphology Abnormality of skeletal muscle fiber size Kyphosis Muscular hypotonia Fever Tremor Blindness Diarrhea Hypertonia Dystonia Pruritus Ophthalmoplegia Hypogonadotrophic hypogonadism Left ventricular hypertrophy Cerebral calcification Pigmentary retinopathy Generalized-onset seizure Psychosis Hemiparesis Involuntary movements Anorexia Hip dysplasia Gingival overgrowth Hallucinations Cerebral visual impairment Clonus Cardiac arrest Truncal ataxia EMG abnormality Amenorrhea Increased serum lactate Carious teeth Vertigo Nausea and vomiting Malabsorption Delayed puberty Anal atresia Dysmetria Ichthyosis Peripheral axonal neuropathy Migraine Nausea Polymicrogyria Polyneuropathy Abnormal cerebellum morphology Generalized myoclonic seizures Sudden cardiac death Sensory impairment Biceps aplasia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Melanoma and Progressive cerebellar ataxia, related diseases and genetic alterations Optic atrophy and Abnormality of the pinna, related diseases and genetic alterations Skeletal muscle atrophy and Nephrolithiasis, related diseases and genetic alterations

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