Dysarthria, and Hepatic steatosis

Diseases related with Dysarthria and Hepatic steatosis

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

Top matches:

Medium match HARTNUP DISEASE

Hartnup disease is a rare metabolic disorder belonging to the neutral aminoacidurias and characterized by abnormal renal and gastrointestinal transport of neutral amino acids (tryptophan, alanine, asparagine, glutamine, histidine, isoleucine, leucine, phenylalanine, serine, threonine, tyrosine and valine).

HARTNUP DISEASE Is also known as aminoaciduria, hartnup type|hartnup disease|hartnup disorder

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about HARTNUP DISEASE

Hypermanganesemia with dystonia-1 is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved (summary by Tuschl et al., 2012 and Quadri et al., 2012). Genetic Heterogeneity of Hypermanganesemia With DystoniaSee also HMNDYT2 (OMIM ), caused by mutation in the SLC39A14 gene (OMIM ) on chromosome 8p21.

CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME Is also known as hmdpc|hypermanganesemia with dystonia, polycythemia, and cirrhosis

Related symptoms:

  • Microcephaly
  • Ataxia
  • Hypertension
  • Peripheral neuropathy
  • Hepatomegaly


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CIRRHOSIS-DYSTONIA-POLYCYTHEMIA-HYPERMANGANESEMIA SYNDROME

Mitochondrial NeuroGastroIntestinal Encephalomyopathy (MNGIE) syndrome is characterized by the association of gastrointestinal dysmotility, peripheral neuropathy, chronic progressive external ophthalmoplegia and leukoencephalopathy.

MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY Is also known as myoneurogastrointestinal encephalopathy syndrome|polip syndrome|mitochondrial neurogastrointestinal encephalopathy syndrome, tymp-related|polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudoobstruction|mngie|mngie, tymp-related

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY

Other less relevant matches:

Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S Is also known as muscular dystrophy, limb-girdle, type 2s|lgmd2s

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2S

Complex IV (cytochrome c oxidase; {EC 1.9.3.1}) is the terminal enzyme of the respiratory chain and consists of 13 polypeptide subunits, 3 of which are encoded by mitochondrial DNA. The 3 mitochondrially encoded proteins in the cytochrome oxidase complex are the actual catalytic subunits that carry out the electron transport function (Saraste, 1983). See {123995} for discussion of some of the nuclear-encoded subunits.Shoubridge (2001) provided a comprehensive review of cytochrome c oxidase deficiency and noted that most isolated COX deficiencies are inherited as autosomal recessive disorders caused by mutations in nuclear-encoded genes; mutations in the mtDNA-encoded COX subunit genes are relatively rare.

ISOLATED CYTOCHROME C OXIDASE DEFICIENCY Is also known as isolated mitochondrial respiratory chain complex iv deficiency|cox deficiency|isolated cox deficiency|cytochrome c oxidase deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ISOLATED CYTOCHROME C OXIDASE DEFICIENCY

Medium match WILSON DISEASE

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).

MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Hypermethioninemia encephalopathy due to adenosine kinase deficiency is a rare inborn error of metabolism disorder characterized by persistent hypermethioninemia with increased levels of S-adenosylmethionine and S-adenosylhomocysteine which manifests with encephalopathy, severe global developmental delay, mild to severe liver dysfunction, hypotonia and facial dysmorphism (most significant is frontal bossing, macrocephaly, hypertelorism and depressed nasal bridge). Epileptic seizures, hypoglycemia and/or cardiac defects (pulmonary stenosis, atrial and/or ventricular septal defect, coarctation of the aorta) may be associated. Clinical picture may range from neurological symptoms only to multi-organ involvement.

HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY Is also known as mental retardation, autosomal recessive 8, formerly|adk hypermethioninemia|mrt8, formerly|hypermethioninemia encephalopathy due to adk deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Hypertelorism


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HYPERMETHIONINEMIA ENCEPHALOPATHY DUE TO ADENOSINE KINASE DEFICIENCY

Adult-onset type II citrullinemia is an autosomal recessive metabolic disorder characterized clinically by the sudden onset of various neuropsychologic symptoms such as disorientation, abnormal behavior, convulsions, and coma due to hyperammonemia. In some cases, rapid progression can lead to brain edema and death if liver transplantation is not possible. Some patients may present with nonalcoholic hepatic steatosis or may develop hepatic fibrosis or hepatocellular carcinoma. Patients with this disorder have a natural aversion to carbohydrates and favor protein, which is in contrast to protein aversion usually observed in patients with urea cycle defects (summary by Komatsu et al., 2008).

CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2 Is also known as citrin deficiency

Related symptoms:

  • Seizures
  • Tremor
  • Edema
  • Vomiting
  • Diarrhea


SOURCES: ORPHANET OMIM MENDELIAN

More info about CITRULLINEMIA, TYPE II, ADULT-ONSET; CTLN2

Top 5 symptoms//phenotypes associated to Dysarthria and Hepatic steatosis

Symptoms // Phenotype % cases
Elevated hepatic transaminase Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Decreased liver function Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Hepatic steatosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Hepatomegaly

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay

Common Symptoms - More than 50% cases

Vomiting

Uncommon Symptoms - Between 30% and 50% cases

Tremor

Common Symptoms - More than 50% cases

Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases

Abnormality of the liver Muscle weakness Spasticity Strabismus Failure to thrive Encephalopathy Feeding difficulties Hypertrophic cardiomyopathy Difficulty walking Dysphagia Myopathy Abnormality of the cerebral white matter Cirrhosis Growth delay Cardiomyopathy Diarrhea Depressivity Gait disturbance Ptosis Edema Muscular hypotonia Coma Short stature Cerebral atrophy Jaundice Macrocephaly Splenomegaly Dystonia Cholestasis Polyneuropathy Aggressive behavior Hearing impairment Sensorineural hearing impairment Pain Anemia Fatigue Skeletal muscle atrophy Peripheral axonal neuropathy Cataract Poor speech Irritability Leukoencephalopathy Nausea Lactic acidosis Limb muscle weakness Delayed speech and language development Hyperammonemia Proximal muscle weakness Acidosis Weight loss Constipation Glycosuria Scoliosis Motor delay Peripheral neuropathy Gastroesophageal reflux Aciduria Aminoaciduria Confusion EEG abnormality Hypertonia Psychosis Microcephaly

Rare Symptoms - Less than 30% cases

Hepatic failure Thrombocytopenia Joint hypermobility Cytochrome C oxidase-negative muscle fibers Nausea and vomiting Pruritus Fever Arthralgia Hydrocephalus Hyperreflexia Neoplasm Unsteady gait Tetraplegia Malabsorption Myopia Abnormality of the eye Bruising susceptibility Gastrointestinal dysmotility Elevated serum creatine phosphokinase Generalized muscle weakness Hepatocellular carcinoma Abdominal distention Leukodystrophy Ragged-red muscle fibers Easy fatigability Back pain Abnormality of the hand Abnormality of the gastrointestinal tract Bilateral ptosis Abnormality of mitochondrial metabolism Malnutrition Difficulty climbing stairs Poor appetite Mitochondrial myopathy Anxiety Respiratory arrest Hemiparesis Ventriculomegaly Poor head control Headache Coarctation of aorta Exercise intolerance Abnormal facial shape Optic atrophy Respiratory insufficiency Hypercalciuria Respiratory distress Kyphosis Progressive muscle weakness Respiratory failure Progressive neurologic deterioration Proteinuria Poor suck Hemiplegia Cerebral cortical atrophy Hyperphosphaturia Hyperkeratosis Myalgia Paresthesia Generalized tonic-clonic seizures Congenital cataract Gait ataxia Muscle cramps Progressive proximal muscle weakness Waddling gait Renal tubular dysfunction Pulmonic stenosis Scapular winging Metabolic acidosis Hypertension Restrictive ventilatory defect Hyperlordosis Increased serum lactate Atrial septal defect Echolalia Delusions Hypertelorism Depressed nasal bridge Nystagmus Congestive heart failure Behavioral abnormality Hepatic encephalopathy Telecanthus Esophageal varix Respiratory tract infection Emotional lability Lethargy Cardiomegaly Hyperbilirubinemia Truncal ataxia Sensorimotor neuropathy Gliosis Pancreatitis Abnormality of movement Rigidity Drowsiness Insomnia High forehead Areflexia Dementia Frontal bossing Hallucinations Muscular dystrophy Chronic diarrhea Abnormality of vision Inflammatory abnormality of the skin Epicanthus Short nose Abnormality of the dentition Bulbous nose Cataplexy Falls Long face Ichthyosis Abnormality of skin pigmentation Limb tremor Dry skin Narcolepsy Gastrointestinal inflammation Astigmatism Genu valgum Arthralgia of the hip Hypotrichosis Glutaric acidemia Increased muscle lipid content Hypermetropia Renal cortical cysts Nonketotic hypoglycemia Impaired mastication Acute pancreatitis Exercise-induced myalgia Medulloblastoma Proximal tubulopathy Episodic vomiting Short neck Abnormal bleeding Abnormality of the renal tubule Palmoplantar keratoderma Abnormal corpus callosum morphology Loss of ability to walk Blindness Ketotic hypoglycemia Generalized aminoaciduria Oliguria Glutaric aciduria Progressive spastic quadriplegia Personality disorder Sleep disturbance Anteverted nares High, narrow palate Thick vermilion border Retinal dystrophy Hypoglycemic coma Ventricular septal defect Long philtrum Elevated plasma acylcarnitine levels Low-set ears Electron transfer flavoprotein-ubiquinone oxidoreductase defect Hydronephrosis Abnormality of blood glucose concentration Downslanted palpebral fissures Micrognathia Umbilical hernia Coarse facial features Cryptorchidism Osteopenia Delayed menarche Macrotia Defective dehydrogenation of isovaleryl CoA and butyryl CoA Polyhydramnios Proptosis Autism Hyperhidrosis Prominent forehead High palate Inguinal hernia Posteriorly rotated ears Alopecia Delayed skeletal maturation Hepatic periportal necrosis Low-set, posteriorly rotated ears Dolichocephaly Leukemia Reduced protein C activity Full cheeks Nail dystrophy Reye syndrome-like episodes Malar flattening Abnormality of cardiovascular system morphology Hernia Ethylmalonic aciduria Pectus excavatum Neurological speech impairment Hypersarcosinemia Abnormality of the kidney Pectus carinatum Intellectual disability, severe Abnormal cardiac septum morphology Fatigable weakness of distal limb muscles Scarring Sparse hair Fatigable weakness of neck muscles Abnormal heart morphology Erythema Abnormality of branched chain family amino acid metabolism Feeding difficulties in infancy Clinodactyly of the 5th finger Hyperpigmentation of the skin Nevus Hyperactivity Hyperextensibility of the finger joints Abnormal aortic valve morphology Subvalvular aortic stenosis Thickened helices Slow-growing hair Abnormal mitral valve morphology Deep palmar crease Abnormality of refraction Abnormal myocardium morphology Delayed CNS myelination Abnormality of the testis Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Carcinoma Excessive wrinkled skin Abnormality of the ulna Arnold-Chiari type I malformation Enlarged kidney Absent eyelashes Hypoplasia of the zygomatic bone Premature skin wrinkling Intrahepatic cholestasis Restlessness Memory impairment Short attention span Woolly hair Hypoalbuminemia Thick upper lip vermilion Hepatic fibrosis Hypertriglyceridemia Abnormality of the pulmonary artery Abnormality of hair texture Alopecia of scalp Portal fibrosis Abnormal location of ears Narrow foot Puberty and gonadal disorders Morphological abnormality of the gastrointestinal tract Cutaneous T-cell lymphoma Hypermethioninemia Secundum atrial septal defect Hyperkeratosis pilaris Oral aversion Multiple plantar creases Inappropriate crying Eyelid fasciculation Multiple palmar creases Abnormality of the auditory canal Abnormality of the hairline Tongue thrusting Cavernous hemangioma Abnormality of the optic disc Multiple lentigines Sparse or absent eyelashes Increased nuchal translucency Endocarditis Frontal balding Anterior creases of earlobe Abnormal tricuspid valve morphology Functional abnormality of the gastrointestinal tract Patchy alopecia Optic nerve dysplasia Hypoplasia of the frontal lobes Generalized ichthyosis Obesity Laryngeal cleft Abnormal eyelash morphology Enuresis Vesicoureteral reflux Abnormal palate morphology Aspiration Abnormality of the nail Narrow palate Sparse eyelashes Oculomotor apraxia Cutis laxa Aplasia/Hypoplasia of the corpus callosum Lymphedema Hemangioma Sleep apnea Abnormality of the genitourinary system Delayed gross motor development Optic nerve hypoplasia Palmoplantar hyperkeratosis Cerebral visual impairment Cafe-au-lait spot Hyperextensible skin Progressive visual loss Intestinal malrotation Premature birth Dental malocclusion Webbed neck Delirium Growth hormone deficiency Abnormality of the cardiovascular system Thickened skin Narrow forehead Low posterior hairline Fine hair Myocardial infarction Open mouth Decreased body weight Relative macrocephaly Deep philtrum Atopic dermatitis Abnormal heart valve morphology Aplasia/Hypoplasia of the eyebrow Neurodevelopmental delay Neurofibromas Infantile spasms Abnormality of the sternum Long palpebral fissure Multiple cafe-au-lait spots Open bite Biparietal narrowing Curly hair Generalized hyperpigmentation Submucous cleft hard palate Anal stenosis Underdeveloped supraorbital ridges Hydroureter Large for gestational age Organic aciduria Scaling skin Mania Cerebral edema Redundant skin Brittle hair Failure to thrive in infancy Sparse eyebrow Pleural effusion Absent eyebrow Ectropion Melanocytic nevus Cubitus valgus Chronic otitis media Heart murmur Obsessive-compulsive behavior Hypoketotic hypoglycemia Hepatitis Chronic fatigue Decreased motor nerve conduction velocity Decreased number of large peripheral myelinated nerve fibers Abnormality of the mitochondrion Skeletal myopathy Demyelinating peripheral neuropathy Absent Achilles reflex Slender build Increased CSF protein Abnormality of the vasculature Progressive external ophthalmoplegia Scleroderma Axonal degeneration Decreased muscle mass Ophthalmoparesis Hyperalaninemia Cachexia Polycystic ovaries External ophthalmoplegia Hypogonadotrophic hypogonadism Hypergonadotropic hypogonadism Foot dorsiflexor weakness Peripheral demyelination Distal sensory impairment Distal amyotrophy Abnormality of eye movement Ophthalmoplegia Distal muscle weakness Abdominal pain Intestinal pseudo-obstruction Intermittent diarrhea Abnormal transferrin saturation Hyporeflexia CNS hypomyelination Infantile muscular hypotonia Lower limb spasticity Apraxia Generalized-onset seizure Hip dysplasia Focal-onset seizure Chorea Inability to walk Carious teeth Attention deficit hyperactivity disorder Brachycephaly Absent speech Gastroparesis Cerebellar atrophy Intrauterine growth retardation Small intestinal dysmotility Abnormality of the extraocular muscles Abnormal cell morphology Atrophic muscularis propria Hypointensity of cerebral white matter on MRI Intestinal perforation Subsarcolemmal accumulations of abnormally shaped mitochondria Multiple mitochondrial DNA deletions Diffuse leukoencephalopathy Decreased sensory nerve conduction velocity Macrovesicular hepatic steatosis Abnormality of divalent inorganic cation homeostasis Copper accumulation in liver Gowers sign Methylmalonic aciduria Neurodegeneration Dysmetria Lower limb muscle weakness Pneumonia Neutral hyperaminoaciduria Grasp reflex Glabellar reflex Hyperphenylalaninemia Neural tube defect Glossitis Mood changes Abnormal urinary color Episodic ataxia Parkinsonism Bruxism Gingivitis Irregular hyperpigmentation Encephalitis Hypopigmented skin patches Diplopia Cutaneous photosensitivity Abnormal blistering of the skin Migraine Vertigo Skin rash Photophobia Cognitive impairment Postural instability Gastrointestinal hemorrhage Increased total iron binding capacity Hypomimic face Decreased serum ferritin Pica Abnormality of amino acid metabolism Abnormal basal ganglia MRI signal intensity Abnormal globus pallidus morphology Vitamin E deficiency Unconjugated hyperbilirubinemia Micronodular cirrhosis Hyperglycinemia Abnormal myelination Poor fine motor coordination Prolonged prothrombin time Astrocytosis Action tremor Neuronal loss in central nervous system Generalized dystonia Limb dystonia Polycythemia Axonal loss Abnormality of coagulation Steppage gait Toe walking Portal hypertension Dysdiadochokinesis Spastic paraparesis Paraparesis Abnormality of extrapyramidal motor function Bradykinesia Limb-girdle muscular dystrophy Impulsivity Excessive daytime somnolence Menstrual irregularities Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Neoplasm of the liver Dyspnea Chondrocalcinosis Acute hepatic failure Increased reactive oxygen species production Hand tremor Hypoparathyroidism Joint swelling Abnormality of blood and blood-forming tissues Arthropathy Osteomalacia Pathologic fracture Global brain atrophy Oral-pharyngeal dysphagia Personality changes Arrhythmia Hypoglycemia Drooling Type I diabetes mellitus Ketonuria Cardiorespiratory arrest Ketosis Myoglobinuria Fatigable weakness Acute kidney injury Rhabdomyolysis Ventricular fibrillation Stridor Polycystic kidney dysplasia Slurred speech Mutism Spastic tetraparesis Cardiac arrest Abnormality of the pinna Clonus Wide anterior fontanel Anorexia Left ventricular hypertrophy Renal dysplasia Heterotopia Pachygyria Abnormality of the genital system Tetraparesis Renal cyst Pulmonary hypoplasia Joint hyperflexibility Dilated cardiomyopathy Schizophrenia Leukopenia Athetosis Muscular hypotonia of the trunk Apathy Polydipsia Tachypnea Respiratory insufficiency due to muscle weakness Severe muscular hypotonia Congenital hip dislocation Status epilepticus Pulmonary arterial hypertension Spastic tetraplegia Pigmentary retinopathy Hip dislocation Apnea Kyphoscoliosis Myotonia Dilatation Exophoria Cerebral white matter atrophy Abnormal levels of creatine kinase in blood Intellectual disability, borderline Right ventricular dilatation Alacrima Muscle fiber atrophy Recurrent ear infections Speech apraxia Achalasia Esophagitis Adrenal insufficiency Spinal muscular atrophy Polyuria Nephrocalcinosis Hepatosplenomegaly Spontaneous abortion Muscle stiffness Increased body weight Bone pain Nephrolithiasis Involuntary movements Clumsiness Osteoarthritis Ascites Hemolytic anemia Infertility Abnormality of the nervous system Arthritis Osteoporosis Exertional dyspnea Increased hepatocellular lipid droplets Spastic hemiparesis Increased intramyocellular lipid droplets Proximal renal tubular acidosis Renal Fanconi syndrome Microvesicular hepatic steatosis Thoracolumbar kyphosis Periventricular leukomalacia Increased CSF lactate Thoracolumbar scoliosis Progressive encephalopathy Renal tubular acidosis Weak cry Hypoargininemia


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