Congestive heart failure, and Progressive hearing impairment

Diseases related with Congestive heart failure and Progressive hearing impairment

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

Top matches:

Maternally inherited cardiomyopathy and hearing loss is a mitochondrial disease described in two unrelated families to date that has a heterogeneous clinical presentation characterized by the association of progressive sensorineural hearing loss with hypertrophic cardiomyopathy and, in the majority of cases, encephalomyopathy symptoms such as ataxia, slurred speech, progressive external opthalmoparesis (PEO), muscle weakness, myalgia, and exercise intolerance.

MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS Is also known as mtdna-related cardiomyopathy and hearing loss|trna-lys-related cardiomyopathy-hearing loss syndrome|maternally-inherited cardiomyopathy and deafness

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Hypertension
  • Peripheral neuropathy


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED CARDIOMYOPATHY AND HEARING LOSS

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

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

Other less relevant matches:

Refsum disease is an autosomal recessive inborn error of lipid metabolism classically characterized by a tetrad of clinical abnormalities: retinitis pigmentosa, peripheral neuropathy, cerebellar ataxia, and elevated protein levels in the cerebrospinal fluid (CSF) without an increase in the number of cells. However, not all patients show all these features. All patients have accumulation of an unusual branched-chain fatty acid, phytanic acid, in blood and tissues. Other variable features include cardiac dysfunction, nerve deafness, ichthyosis, and multiple epiphyseal dysplasia (review by Skjeldal et al., 1987).Increased levels of phytanic acid can also be found in peroxisomal biogenesis disorders; see Zellweger syndrome (see {214100}) (Skjeldal et al., 1987).Infantile Refsum disease (see PBD1B, {601539}) is a distinct disorder with a different phenotype and genetic basis.A phenotype clinically indistinguishable from that of classic Refsum disease (PBD9B ), but with a different biochemical profile, can be caused by mutation in the gene encoding peroxin-7 (PEX7 ) on chromosome 6q.

REFSUM DISEASE, CLASSIC Is also known as heredopathia atactica polyneuritiformis|hmsn iv|phytanic acid oxidase deficiency|hereditary motor and sensory neuropathy iv|hmsn4|refsum disease, adult, 1

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about REFSUM DISEASE, CLASSIC

Spondyloepiphyseal dysplasia congenita is an autosomal dominant chondrodysplasia characterized by disproportionate short stature (short trunk), abnormal epiphyses, and flattened vertebral bodies. Skeletal features are manifested at birth and evolve with time. Other features include myopia and/or retinal degeneration with retinal detachment and cleft palate (summary by Anderson et al., 1990).

SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC Is also known as sed congenita|spondyloepiphyseal dysplasia, congenital type

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPONDYLOEPIPHYSEAL DYSPLASIA CONGENITA; SEDC

Autosomal recessive cutis laxa, type 1 (ARCL1) is a generalized connective tissue disorder characterized by the association of wrinkled, redundant and sagging inelastic skin with severe systemic manifestations (lung atelectesias and emphysema, vascular anomalies, and gastrointestinal and genitourinary tract diverticuli).

AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1 Is also known as arcl1|autosomal recessive cutis laxa with severe systemic involvement|cutis laxa, autosomal recessive|autosomal recessive cutis laxa, pulmonary emphysema type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CUTIS LAXA TYPE 1

D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (OMIM ), caused by mutation in the ACOX1 gene (OMIM ) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD ), Zellweger cerebrohepatorenal syndrome (see {214100}) and neonatal adrenoleukodystrophy (NALD; see {601539}) (Watkins et al., 1995).DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1 ). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.

D-BIFUNCTIONAL PROTEIN DEFICIENCY Is also known as peroxisomal bifunctional enzyme deficiency|dbp deficiency|17-beta-hydroxysteroid dehydrogenase iv deficiency|pbfe deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about D-BIFUNCTIONAL PROTEIN DEFICIENCY

Medium match FABRY DISEASE

Fabry disease (FD) is a progressive, inherited, multisystemic lysosomal storage disease characterized by specific neurological, cutaneous, renal, cardiovascular, cochleo-vestibular and cerebrovascular manifestations.

FABRY DISEASE Is also known as ceramide trihexosidase deficiency|hereditary dystopic lipidosis|fd|alpha-galactosidase a deficiency|diffuse angiokeratoma|gla deficiency|angiokeratoma corporis diffusum|anderson-fabry disease

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

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 HURLER SYNDROME

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy.

HURLER SYNDROME Is also known as mpsih|mps1h|mps1-h|mucopolysaccharidosis type 1h|mucopolysaccharidosis type ih|hurler disease

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Scoliosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about HURLER SYNDROME

Top 5 symptoms//phenotypes associated to Congestive heart failure and Progressive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Sensorineural hearing impairment Common - Between 50% and 80% cases
Hypertension Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Cardiomyopathy Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Progressive sensorineural hearing impairment

Uncommon Symptoms - Between 30% and 50% cases

Arrhythmia

Common Symptoms - More than 50% cases

Seizures

Uncommon Symptoms - Between 30% and 50% cases

Myalgia Intellectual disability Short stature Muscle weakness Global developmental delay Hypertrophic cardiomyopathy Ptosis Nystagmus Constipation Hypertelorism Skeletal muscle atrophy Hepatomegaly Pain Growth delay Optic atrophy Retinal degeneration Ataxia Dyspnea Peripheral neuropathy Gait disturbance Fatigue Kyphosis Respiratory distress Short neck Nyctalopia Full cheeks Bilateral sensorineural hearing impairment Cardiomegaly Pigmentary retinopathy Ventricular hypertrophy Muscular hypotonia Abnormal facial shape Vertigo Abnormality of the liver Anemia Dilatation Abdominal pain Malabsorption Visual loss Hypothyroidism Proteinuria Paresthesia Mental deterioration Visual impairment Hemiplegia Hernia Left ventricular hypertrophy Renal insufficiency Myopathy Ragged-red muscle fibers Failure to thrive Exercise intolerance Depressed nasal bridge Glomerulopathy Stroke Vestibular dysfunction Bundle branch block Diarrhea Vomiting Apnea Midface retrusion Respiratory insufficiency Headache Cognitive impairment Aplasia/Hypoplasia of the cerebellum Depressivity Elevated hepatic transaminase Abnormality of the cardiovascular system Generalized hypotonia

Rare Symptoms - Less than 30% cases

Cor pulmonale Ileus Thick eyebrow Renal tubular dysfunction Transient ischemic attack Abnormal heart valve morphology Tubulointerstitial nephritis Delayed cranial suture closure Emphysema Aortic aneurysm Xerostomia Coarse facial features Large earlobe Abnormal mitral valve morphology Limitation of joint mobility Lumbar hyperlordosis Abnormal lung morphology Abnormal aortic valve morphology Abnormal form of the vertebral bodies Abnormality of epiphysis morphology Coxa vara Sleep apnea Growth abnormality Back pain Restrictive ventilatory defect Umbilical hernia Hypoplasia of the odontoid process Myelopathy Angina pectoris Microcephaly Hypospadias Pectus excavatum Inguinal hernia Recurrent respiratory infections Osteoporosis Arthralgia Cervical myelopathy Long philtrum Coronary artery atherosclerosis Mitral regurgitation Progressive visual loss Split hand Ischemic stroke Corneal dystrophy Aortic regurgitation Decreased nerve conduction velocity Purpura Primary adrenal insufficiency Abnormal nerve conduction velocity Anorexia Myocardial infarction Easy fatigability Atrial fibrillation Nephrotic syndrome Fever Edema Nephropathy Behavioral abnormality Muscle cramps Developmental regression Sudden cardiac death Anxiety Abdominal distention Polymicrogyria Vascular tortuosity Delayed skeletal maturation Seborrheic dermatitis Abnormality of peripheral nerve conduction Micrognathia Heart murmur Personality changes Macrocephaly Frontal bossing Ventriculomegaly Cerebellar atrophy Delayed puberty Pneumonia Corneal opacity Nausea and vomiting Pruritus Prominent supraorbital ridges Thick vermilion border Osteopenia Chronic kidney disease Feeding difficulties in infancy Severe global developmental delay Dolichocephaly Abnormality of the cerebral white matter Atrioventricular block Abnormality of the renal tubule Dysesthesia Genu valgum Wide nasal bridge Ophthalmoplegia Type II diabetes mellitus Hypertrichosis External ophthalmoplegia Decreased body weight Gingival overgrowth Abnormality of lipid metabolism Delayed speech and language development Blindness Abnormality of the kidney Hyporeflexia Pes cavus Rod-cone dystrophy Neonatal hypotonia Ichthyosis Polyneuropathy Renal cyst Sensory impairment Generalized hirsutism Retinopathy Diabetes mellitus Epiphyseal dysplasia Anteverted nares Hyperreflexia Encephalopathy Dilated cardiomyopathy Chest pain Increased serum lactate EMG abnormality Ophthalmoparesis Multiple lipomas Progressive external ophthalmoplegia Malar flattening Dysarthria Elevated serum creatine phosphokinase Abnormality of the dentition Carious teeth Carcinoma Feeding difficulties Hirsutism Broad nasal tip Hip dysplasia Hyperlipidemia Bilateral ptosis Nausea Glaucoma Arthritis Talipes equinovarus Hip dislocation Pectus carinatum Skeletal dysplasia Scoliosis Abnormal renal physiology Miosis Dysphasia Psychotic episodes Amaurosis fugax Tubulointerstitial abnormality Abnormality of the cerebellar vermis Renal Fanconi syndrome Peripheral axonal neuropathy Auditory hallucinations Lactic acidosis Confusion Pancreatitis Gastroparesis Spontaneous hematomas Anal atresia Leber optic atrophy Coma Persistence of primary teeth Postural instability Abnormal cerebellum morphology Generalized myoclonic seizures Writer's cramp Migraine Muscle fiber atrophy Memory impairment Psychomotor deterioration Dysmetria Hemeralopia Crohn's disease Intestinal obstruction Mask-like facies Photophobia EEG abnormality Edema of the dorsum of hands Focal segmental glomerulosclerosis Bifid scrotum Abnormal mitochondrial morphology Abnormality of the pinna Abnormality of neuronal migration Protruding ear Overlapping toe Adrenal insufficiency Paronychia Hypercalciuria Spotty hypopigmentation Erythema Abnormal macular morphology Attention deficit hyperactivity disorder Neurological speech impairment Generalized tonic-clonic seizures Aphasia Lethargy Arthrogryposis multiplex congenita Congenital cataract Hyponatremia Abnormality of mitochondrial metabolism Cachexia Hyperkalemia Cerebral calcification Specific learning disability Cardiac arrest Reduced consciousness/confusion Cerebral ischemia Wolff-Parkinson-White syndrome Increased CSF lactate Pulmonary embolism Distal arthrogryposis Drowsiness Mutism Visual hallucinations Atopic dermatitis Aortic dissection Facial diplegia Cardiorespiratory arrest Hashimoto thyroiditis Abnormality of immune system physiology Abnormality of visual evoked potentials Delusions Hypopigmented skin patches Posterior subcapsular cataract Mitochondrial myopathy Hypoparathyroidism Heart block Reduced tendon reflexes Vitiligo Truncal ataxia Neonatal hypoglycemia Hypogonadotrophic hypogonadism Type I diabetes mellitus Gait imbalance Clonus Amenorrhea Basal ganglia calcification Macular degeneration Generalized-onset seizure Pulmonary arterial hypertension Status epilepticus Psychosis Hyperkinesis Motor polyneuropathy Visual field defect Prolonged QT interval Vertebral fusion Hemiparesis Goiter Episodic vomiting Hyperthyroidism Anterior hypopituitarism Involuntary movements Hemianopia Rhabdomyolysis Schizophrenia Proximal tubulopathy Abnormality of retinal pigmentation Hallucinations Retinal pigment epithelial atrophy Hemiplegia/hemiparesis Left ventricular failure Thyroiditis Cerebral visual impairment Stroke-like episode Speech apraxia Chronic diarrhea Cochlear malformation Anterior open bite Retinal fold Chronic rhinitis Biconcave vertebral bodies Mucopolysacchariduria Large face Sclerosis of skull base Difficulty standing Meckel diverticulum Abnormal diaphysis morphology Narrow pelvis bone Flared nostrils Large sella turcica Anterior rib cupping Prominent sternum J-shaped sella turcica Abnormality of the gingiva Atlantoaxial dislocation Recurrent ear infections Diaphyseal thickening Heparan sulfate excretion in urine Conical tooth Dysostosis multiplex Abnormality of the respiratory system Tracheal stenosis Beaking of vertebral bodies Communicating hydrocephalus Upper airway obstruction Hypoplastic ilia Flared iliac wings Delayed ossification of carpal bones Foam cells Pulmonary edema Endocardial fibroelastosis Constrictive median neuropathy Hypoplasia of teeth Sagittal craniosynostosis Rhinorrhea Broad femoral neck Hip subluxation Abnormal hand morphology Gingivitis Bullet-shaped phalanges of the hand Broad ischia Abnormality of joint mobility Delayed tarsal ossification Thick skull base Deformed humerus Enlarged vertebral pedicles Proximal tapering of metacarpals Broad long bone diaphyses Abnormality of lysosomal metabolism Abnormality of the wing of the ilium Increased size of nasopharyngeal adenoids Abnormality of glycosaminoglycan metabolism Abnormality of the tympanic membrane Stiff interphalangeal joints Abnormal mandible coronoid process morphology Abnormality of premolar morphology Abnormal mandibular ramus morphology Flaring of rib cage Mandibular condyle hypoplasia Enlargement of the wrists Lumbar kyphosis Abnormality of the middle ear ossicles Calvarial hyperostosis Thoracolumbar kyphoscoliosis Hernia of the abdominal wall Urinary glycosaminoglycan excretion Short mandibular rami Cervical kyphosis Abnormal CNS myelination Dermatan sulfate excretion in urine Cervical subluxation Abnormality of mucopolysaccharide metabolism Abnormality of the pubic bone Hypoplasia of the femoral head Calcification of falx cerebri Abnormality of the tonsils C1-C2 subluxation Enlarged tonsils Hypoplastic cervical vertebrae Diastasis recti Abnormality of the clavicle Progressive night blindness Abnormality of skin pigmentation Wide mouth Craniosynostosis Camptodactyly of finger Abnormal pyramidal sign Synophrys Abnormality of eye movement Dry skin Wide nose Pallor Inability to walk High, narrow palate Everted lower lip vermilion Neurodegeneration Sleep disturbance Delayed eruption of teeth Macroglossia Asthma Joint stiffness Conductive hearing impairment Microdontia Morphological abnormality of the vestibule of the inner ear Cochlear degeneration Abnormal mitochondrial shape Paralytic ileus Abnormal cochlea morphology Homonymous hemianopia Abnormality of acid-base homeostasis Episodic quadriplegia Bilateral intracranial calcifications Morphological abnormality of the inner ear Hepatosplenomegaly Prominent ear helix Flexion contracture Abnormality of the skeletal system Hydrocephalus Splenomegaly Prominent forehead Proptosis Kyphoscoliosis Abnormality of the skin Abnormality of the ribs Abnormality of the skull Thoracic scoliosis Metatarsus adductus Multiple joint contractures Flared metaphysis Thickened calvaria Arthropathy Spinal canal stenosis Rhinitis Protruding tongue Stridor Short clavicles Palpebral edema Protuberant abdomen Peripheral visual field loss Shallow orbits Abnormality of the elbow Recurrent lower respiratory tract infections Obstructive sleep apnea Toe walking Language impairment Intellectual disability, profound Abnormal vertebral morphology Interphalangeal joint contracture of finger Progressive neurologic deterioration Recurrent otitis media Encephalocele Gastroesophageal reflux Long eyelashes Thickened skin Exotropia Elbow flexion contracture Recurrent upper respiratory tract infections Coxa valga Spastic paraparesis Abnormality of dental enamel Opacification of the corneal stroma Cerebral palsy Widely spaced teeth Hyperammonemia Increased intracranial pressure Jaundice Renal tubular acidosis Acidosis Recurrent urinary tract infections Hemolytic anemia Recurrent fractures Vesicoureteral reflux Overgrowth Oligohydramnios Congenital diaphragmatic hernia Abnormality of the face Joint hyperflexibility Wormian bones Cutis laxa Shock Redundant skin Prematurely aged appearance Shawl scrotum Pulmonary artery stenosis Arachnodactyly Pulmonic stenosis Atelectasis Flattened epiphysis Short thorax Disproportionate short stature Vitreoretinopathy Barrel-shaped chest Ovoid vertebral bodies Limited elbow movement Limited hip movement Joint laxity Retinoschisis Delayed pubic bone ossification Sciatica Neonatal short-trunk short stature Limitation of knee mobility Delayed calcaneal ossification Cryptorchidism Premature skin wrinkling Bladder diverticulum Spondyloepiphyseal dysplasia Aspiration Gliosis Peripheral demyelination Cholestasis Heterotopia Pachygyria Large fontanelles Hammertoe Hepatic steatosis Decreased muscle mass Thoracic hypoplasia Cortical dysplasia Scaphocephaly Adrenal hypoplasia Aspiration pneumonia Undetectable electroretinogram Ascites Talipes Arterial stenosis Renal diverticulum Ascending tubular aorta aneurysm Dermal translucency Congenital hemolytic anemia Supravalvular aortic stenosis Arterial fibromuscular dysplasia Bowel diverticulosis Strabismus Retrognathia Low-set ears High palate Epicanthus Hypoplasia of the corpus callosum Upslanted palpebral fissure Polyhydramnios High forehead Bowing of the legs Genu varum Bile duct proliferation Decreased liver function Distal amyotrophy Otitis media Epistaxis Hypertriglyceridemia Progressive muscle weakness Hepatic fibrosis Sinusitis Thin vermilion border Recurrent sinusitis Ketosis Recurrent corneal erosions Skeletal myopathy Micronodular cirrhosis Periportal fibrosis Ketotic hypoglycemia Hepatic failure Cirrhosis Pancytopenia Increased serum pyruvate Intellectual disability, severe Abnormality of cardiovascular system morphology Febrile seizures Slurred speech Mild global developmental delay Lower limb pain Increased adipose tissue Scarring Intellectual disability, mild Immunodeficiency Obesity Thin upper lip vermilion Hypoglycemia Deeply set eye Proximal muscle weakness Unsteady gait Constriction of peripheral visual field Rhizomelia Micromelia Hyperlordosis Respiratory tract infection Autoimmunity Broad forehead Platyspondyly Narrow chest Flat face Severe short stature Pulmonary hypoplasia Retinal detachment Waddling gait Limb undergrowth High myopia Osteoarthritis Abnormality of the metaphysis Polydactyly Myopia Hyperglycemia Leukodystrophy Macular dystrophy Abnormal retinal morphology Retinal atrophy Left bundle branch block Abnormal chorioretinal morphology Limb muscle weakness Sensorimotor neuropathy Cleft palate Anosmia Epiphyseal stippling Increased CSF protein Multiple epiphyseal dysplasia Short fourth metatarsal Hyperoxaluria Elevated levels of phytanic acid Corpus callosum atrophy Enterocolitis Autism Distal renal tubular acidosis Retinal vascular tortuosity Corneal crystals Limb pain Abnormality of temperature regulation Nephrogenic diabetes insipidus Decreased glomerular filtration rate Increased blood urea nitrogen Decreased female libido Reduced sperm motility Angiokeratoma Obstructive lung disease Impaired temperature sensation Hyposthenuria Shortened QT interval Angiokeratoma corporis diffusum Vascular skin abnormality Abnormality of cardiovascular system physiology Shortened PR interval Chronic pain Abnormal myocardium morphology High-frequency hearing impairment Asymmetric septal hypertrophy Periorbital fullness Gastrointestinal dysmotility T-wave inversion Tubulointerstitial fibrosis Abnormal endocardium morphology Abnormal thrombosis Abnormal cornea morphology Supraventricular arrhythmia Conjunctival telangiectasia Microalbuminuria Primary hypothyroidism Biventricular hypertrophy Decreased lacrimation Coronary artery stenosis Abnormality of the nose Cerebral atrophy Cornea verticillata Motor delay Tremor Dysphagia Hypertonia Dystonia Areflexia Abnormality of the common coagulation pathway Cerebellar hypoplasia Dementia Myoclonus Hypogonadism Cerebral cortical atrophy Gait ataxia Weight loss Abnormal glomerular filtration rate Increased glomerular filtration rate Concentric hypertrophic cardiomyopathy Abnormality of the forehead Mucosal telangiectasiae Unexplained fevers ST segment depression Functional abnormality of the gastrointestinal tract Impaired renal concentrating ability Abnormality of glycosphingolipid metabolism Hyperkeratotic papule Increased carotid artery intimal medial thickness Tortuosity of conjunctival vessels Left ventricular septal hypertrophy Tenesmus Heavy proteinuria Acroparesthesia Abnormal common carotid artery morphology Abnormal ST segment Restrictive cardiomyopathy Abnormality of femur morphology Cerebral dysmyelination Subcutaneous nodule Syncope Urinary incontinence Hypotension Mitral valve prolapse Thick lower lip vermilion Palpitations Hypohidrosis Bulbous nose Lymphedema Bradycardia Fasciculations Abnormal autonomic nervous system physiology Spontaneous abortion Aminoaciduria Ventricular tachycardia Hematuria Tachycardia Reduced bone mineral density Posteriorly rotated ears Cerebral hypoplasia Chylous ascites Renal cortical microcysts Fetal ascites Calcific stippling Generalized cerebral atrophy/hypoplasia Hyperhidrosis Stage 5 chronic kidney disease Hyperkeratosis Mandibular prognathia Abnormality of the nervous system Skin rash Cough Prominent nasal bridge Papule Abnormal intestine morphology Ventricular arrhythmia Chronic fatigue Supraventricular tachycardia Abnormal EKG Edema of the lower limbs Elevated serum creatinine Tubular atrophy Abnormality of the gastrointestinal tract Oligospermia Heat intolerance Wheezing Reduced ejection fraction Peripheral arterial stenosis Clubbing of fingers Chronic obstructive pulmonary disease Achalasia Sinus bradycardia Myocardial fibrosis Aortic root aneurysm Glycosuria Tinnitus Diabetes insipidus Abnormality of the hand Glomerulosclerosis Polydipsia Clubbing Impaired vibratory sensation Tricuspid regurgitation Polyuria Telangiectasia of the skin Anhidrosis Loss of consciousness Impotence Elevated erythrocyte sedimentation rate Interstitial pulmonary abnormality Orthostatic hypotension Celiac disease Delayed ossification of the hand bones


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