Hepatomegaly, and Progressive visual loss

Diseases related with Hepatomegaly and Progressive visual loss

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

Top matches:

Glycogen storage disease due to LAMP-2 (Lysosomal-Associated Membrane Protein 2) deficiency is a lysosomal glycogen storage disease characterised by severe cardiomyopathy and variable degrees of muscle weakness, frequently associated with intellectual deficit.

GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY Is also known as vacuolar cardiomyopathy and myopathy, x-linked|antopol disease|gsd due to lamp-2 deficiency|lysosomal glycogen storage disease without acid maltase deficiency, formerly|glycogenosis due to lamp-2 deficiency|gsd2b, formerly|gsd iib, formerly|glycogen stora

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Muscle weakness
  • Pain
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about GLYCOGEN STORAGE DISEASE DUE TO LAMP-2 DEFICIENCY

3-methylglutaconic aciduria (3-MGA) type I is an inborn error of leucine metabolism with a variable clinical phenotype ranging from mildly delayed speech to psychomotor retardation, coma, failure to thrive, metabolic acidosis and dystonia.

3-METHYLGLUTACONIC ACIDURIA TYPE 1 Is also known as 3-methylglutaconyl-coa hydratase deficiency|3mg-coa hydratase deficiency|mga1|3-mg-coa-hydratase deficiency|mga, type i

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about 3-METHYLGLUTACONIC ACIDURIA TYPE 1

Sialidosis is an autosomal recessive disorder characterized by the progressive lysosomal storage of sialylated glycopeptides and oligosaccharides caused by a deficiency of the enzyme neuraminidase. Common to the sialidoses is the accumulation and/or excretion of sialic acid (N-acetylneuraminic acid) covalently linked ('bound') to a variety of oligosaccharides and/or glycoproteins (summary by Lowden and O'Brien, 1979). The sialidoses are distinct from the sialurias in which there is storage and excretion of 'free' sialic acid, rather than 'bound' sialic acid; neuraminidase activity in sialuria is normal or elevated. Salla disease (OMIM ) is a form of 'free' sialic acid disease. ClassificationLowden and O'Brien (1979) provided a logical nosology of neuraminidase deficiency into sialidosis type I and type II. Type I is the milder form, also known as the 'normosomatic' type or the cherry red spot-myoclonus syndrome. Sialidosis type II is the more severe form with an earlier onset, and is also known as the 'dysmorphic' type. Type II has been subdivided into juvenile and infantile forms. Other terms for sialidosis type II are mucolipidosis I and lipomucopolysaccharidosis.

NEURAMINIDASE DEFICIENCY Is also known as neug deficiency|neuraminidase 1 deficiency|glycoprotein neuraminidase deficiency|neu1 deficiency|mucolipidosis i|neu deficiency|lipomucopolysaccharidosis|sialidase deficiency|ml i|sialidosis, type ii

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURAMINIDASE DEFICIENCY

Other less relevant matches:

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

Hurler-Scheie syndrome is the intermediate form of mucopolysaccharidosis type 1 (MPS1; see this term) between the two extremes Hurler syndrome and Scheie syndrome (see these terms); it is a rare lysosomal storage disease, characterized by skeletal deformities and a delay in motor development.

HURLER-SCHEIE SYNDROME Is also known as mucopolysaccharidosis type 1h/s|mucopolysaccharidosis type ih/s|mpsih/s|mps1-hs|mps1h/s

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HURLER-SCHEIE SYNDROME

High 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

High match ALSTRÖM SYNDROME

Alström syndrome (AS) is a multisystemic disorder characterized by cone-rod dystrophy, hearing loss, obesity, insulin resistance and hyperinsulinemia, type 2 diabetes mellitus, dilated cardiomyopathy (DCM; see this term), and progressive hepatic and renal dysfunction.

ALSTRÖM SYNDROME Is also known as alss

Related symptoms:

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


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about ALSTRÖM SYNDROME

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

High match FISH-EYE DISEASE

Fish eye disease (FED) is a form of genetic LCAT (lecithin-cholesterol acyltransferase) deficiency (see this term) characterized clinically by corneal opacifications, and biochemically by significantly reduced HDL cholesterol and partial LCAT enzyme deficiency.

FISH-EYE DISEASE Is also known as dyslipoproteinemic corneal dystrophy|alpha-lcat deficiency|lcata deficiency|partial lcat deficiency|fed|alpha-lecithin:cholesterol acyltransferase deficiency

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Splenomegaly
  • Visual loss
  • Abnormality of the eye


SOURCES: OMIM ORPHANET MENDELIAN

More info about FISH-EYE DISEASE

Systemic-onset juvenile idiopathic arthritis is marked by the severity of the extra-articular manifestations (fever, cutaneous eruptions) and by an equal sex ratio.

SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS Is also known as systemic-onset jia|systemic juvenile rheumatoid arthritis|still disease|systemic polyarthritis

Related symptoms:

  • Visual impairment
  • Hepatomegaly
  • Fever
  • Splenomegaly
  • Visual loss


SOURCES: ORPHANET OMIM MENDELIAN

More info about SYSTEMIC-ONSET JUVENILE IDIOPATHIC ARTHRITIS

Top 5 symptoms//phenotypes associated to Hepatomegaly and Progressive visual loss

Symptoms // Phenotype % cases
Global developmental delay Common - Between 50% and 80% cases
Visual loss Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Splenomegaly Common - Between 50% and 80% cases
Visual impairment Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hepatomegaly and Progressive visual loss. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Cardiomyopathy

Uncommon Symptoms - Between 30% and 50% cases

Intellectual disability

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Congestive heart failure

Common Symptoms - More than 50% cases

Cardiomegaly

Uncommon Symptoms - Between 30% and 50% cases

Hepatosplenomegaly Scoliosis Nystagmus Cognitive impairment Failure to thrive Kyphosis Seizures Osteopenia Cataract Sleep disturbance Delayed speech and language development Corneal opacity Pectus carinatum Ataxia Coarse facial features Inguinal hernia Sensorineural hearing impairment Growth delay Thickened skin Hernia Optic atrophy Constipation Micrognathia Depressed nasal bridge Abdominal pain Respiratory insufficiency Abnormality of the dentition Macrocephaly Skeletal muscle atrophy Short neck Hypertelorism Depressivity Dolichocephaly Opacification of the corneal stroma Neurodegeneration Generalized hirsutism Heart murmur Abnormal heart valve morphology Peripheral visual field loss Chronic otitis media Nyctalopia Abnormality of the cerebral white matter Hepatic steatosis Recurrent otitis media Gastroesophageal reflux Encephalopathy Pneumonia Abnormality of the optic disc Anteverted nares Elevated hepatic transaminase Severe global developmental delay Muscular hypotonia Generalized hypotonia Asthma Dysostosis multiplex Conductive hearing impairment Carious teeth Genu valgum Retinal degeneration Hirsutism Thick vermilion border Strabismus Falls Abnormal facial shape Recurrent respiratory infections Umbilical hernia Kyphoscoliosis Skeletal dysplasia Frontal bossing Dyspnea Proptosis Hyperkeratosis Long philtrum Blindness Hypermetropia Ascites Abdominal distention Motor delay Pes cavus Back pain Myocardial infarction Left ventricular hypertrophy Dry skin Lymphadenopathy Behavioral abnormality Vomiting Dilated cardiomyopathy Scarring Abnormality of the liver Feeding difficulties Mental deterioration Abnormality of the eye Retinopathy Hypertension

Rare Symptoms - Less than 30% cases

Obsessive-compulsive behavior Wide nose Sparse hair Synophrys Respiratory tract infection Frontal balding Astigmatism Irritability Abnormality of the kidney Myalgia Pulmonic stenosis Aspiration Macroglossia Pleural effusion Autism Hyperhidrosis Alopecia Abnormal aortic valve morphology Split hand Endocardial fibroelastosis Hypotrichosis Aplasia/Hypoplasia of the cerebellum Progressive hearing impairment Headache Glaucoma Hydroureter Hyperpigmentation of the skin Hypertriglyceridemia Growth hormone deficiency Vesicoureteral reflux Pericarditis Arthralgia Alopecia of scalp Atherosclerosis Decreased HDL cholesterol concentration Diarrhea Otitis media Elevated C-reactive protein level Retinal dystrophy Joint stiffness Craniosynostosis Camptodactyly of finger Abnormal pyramidal sign Limitation of joint mobility Coronary artery atherosclerosis Abnormal mitral valve morphology Abnormality of the tonsils Spinal canal stenosis Rhinitis Protuberant abdomen Increased size of nasopharyngeal adenoids Obstructive sleep apnea Abnormality of glycosaminoglycan metabolism Diastasis recti Abnormality of the ulna Tracheal stenosis Communicating hydrocephalus Abnormality of lysosomal metabolism Abnormality of mucopolysaccharide metabolism Restrictive ventilatory defect Flared iliac wings Dermatan sulfate excretion in urine Sagittal craniosynostosis Myelopathy Abnormal diaphysis morphology Urinary glycosaminoglycan excretion Abnormal nerve conduction velocity Hernia of the abdominal wall Abnormality of the gingiva Heparan sulfate excretion in urine Hip subluxation Arthropathy Multiple joint contractures Angina pectoris High, narrow palate Thoracic scoliosis J-shaped sella turcica Hip dysplasia Sleep apnea Chronic diarrhea Decreased body weight Abnormality of the cardiovascular system Microdontia Abnormality of the ribs Lumbar hyperlordosis Full cheeks Abnormality of skin pigmentation Toe walking Pallor Abnormal form of the vertebral bodies Prominent forehead Abnormality of retinal pigmentation Abnormal vertebral morphology Elbow flexion contracture Coxa valga Abnormality of dental enamel Widely spaced teeth Increased intracranial pressure Edema Hydrocephalus Cor pulmonale Gingivitis Myoclonus Spastic paraparesis Pigmentary retinopathy Neurodevelopmental delay Dementia Dystonia High forehead Polyhydramnios Proteinuria Delayed skeletal maturation Foam cells Pectus excavatum Dilatation Hyperreflexia Hyperlipidemia Fatigue Respiratory distress Ventriculomegaly Arrhythmia Epicanthus High palate Low-set ears Cerebral atrophy Decreased liver function Dysarthria Choreoathetosis Short attention span Hypertrophic cardiomyopathy Abnormality of the gastrointestinal tract Gait disturbance Myocardial fibrosis Hyperactivity Pain Abnormality of movement Feeding difficulties in infancy Muscle weakness Peripheral neuropathy Retrognathia Skeletal myopathy Limb muscle weakness Flexion contracture Progressive cerebellar ataxia Urinary incontinence Abnormal retinal morphology Cone/cone-rod dystrophy Hyperactive deep tendon reflexes Myopathy Myopia Multinodular goiter Vertical nystagmus Bull's eye maculopathy Abnormality of female external genitalia Renal cyst Hepatic encephalopathy Testicular atrophy Menstrual irregularities Abnormal renal morphology Retinal pigment epithelial atrophy Disinhibition Abnormal renal physiology Abnormal left ventricle morphology Tubulointerstitial fibrosis Urethral stenosis Arteriosclerosis Urinary retention Poor fine motor coordination Pyelonephritis Acute pancreatitis Achromatopsia Chills Abnormality of dental color Increased total bilirubin Abnormal adipose tissue morphology Facial hirsutism ST segment depression Multifocal atrial tachycardia Childhood-onset truncal obesity High-frequency sensorineural hearing impairment Increased circulating androgen level Exudative retinopathy Nonproductive cough Chronic active hepatitis Hepatic necrosis Hyperostosis frontalis interna Receptive language delay Granular macular appearance Thickened ears Dilatation of the bladder Unilateral breast hypoplasia Glue ear Recurrent cystitis Chronic hepatic failure Hypoplastic male external genitalia Hematemesis Epigastric pain Melena First degree atrioventricular block Decreased glomerular filtration rate Abnormal spermatogenesis Chronic infection Abnormality of the urethra Lumbar scoliosis High-frequency hearing impairment Abnormal chorioretinal morphology Abnormality of the pituitary gland Urethral stricture Impaired temperature sensation Female hypogonadism Abnormal muscle tone Albuminuria Renovascular hypertension Squared iliac bones Urethral obstruction Ovarian cyst Tubulointerstitial nephritis Restrictive cardiomyopathy Portal hypertension Polycystic ovaries Abnormality of the hand Cholelithiasis Elevated alkaline phosphatase Precocious puberty Hyperinsulinemia Lipodystrophy Polydipsia Tachypnea Nephritis Constriction of peripheral visual field Impaired vibratory sensation Acne Hyperostosis Hyperglycemia Diabetes insipidus Goiter Hypercholesterolemia Polyuria Recurrent pneumonia Anorexia Insulin resistance Hepatic fibrosis Sinusitis Gynecomastia Short toe Hypergonadotropic hypogonadism Horizontal nystagmus Pancreatitis Increased body weight Hypogonadotrophic hypogonadism Nephrocalcinosis Absence seizures Accelerated skeletal maturation Macular degeneration Acanthosis nigricans Elevated serum creatine phosphokinase Glucose intolerance Emphysema Esophageal varix Right ventricular hypertrophy Oligomenorrhea Posterior subcapsular cataract Broad foot Ketoacidosis Pendular nystagmus Abnormal retinal artery morphology Attenuation of retinal blood vessels Elevated serum creatinine Hyperventilation Acute hepatic failure Recurrent bronchitis Tubular atrophy Myocarditis Oligospermia Male hypogonadism Chronic fatigue Chronic obstructive pulmonary disease Poor coordination Retinal atrophy Pulmonary fibrosis Progressive sensorineural hearing impairment Urinary urgency Truncal obesity Pericardial effusion Chorioretinal atrophy Polyphagia Short finger Agenesis of permanent teeth Glomerulopathy Insulin-resistant diabetes mellitus Glycosuria Bronchitis Hyperuricemia Increased number of teeth Subcapsular cataract Autoimmune thrombocytopenia Severe sensorineural hearing impairment Hypoventilation Widely-spaced incisors Intellectual disability, severe Precocious puberty in females Abnormality of the testis Hypoplasia of the zygomatic bone Premature skin wrinkling Woolly hair Thick upper lip vermilion Abnormal hair pattern Dystrophic fingernails Abnormality of the optic nerve Delayed CNS myelination Enlarged kidney Abnormal myocardium morphology Abnormality of refraction Deep palmar crease Gastrointestinal dysmotility Slow-growing hair Thickened helices Subvalvular aortic stenosis Hyperextensibility of the finger joints Absent eyelashes Arnold-Chiari type I malformation Excessive wrinkled skin Long palpebral fissure Large for gestational age Open bite Malnutrition Aplasia/Hypoplasia of the eyebrow Neurofibromas Infantile spasms Abnormality of the sternum Multiple cafe-au-lait spots Abnormal eyelash morphology Biparietal narrowing Curly hair Generalized hyperpigmentation Submucous cleft hard palate Anal stenosis Underdeveloped supraorbital ridges Poor appetite Atopic dermatitis Abnormality of the pulmonary artery Abnormality of hair texture Cubitus valgus Fever Multiple palmar creases Eyelid fasciculation Multiple plantar creases Oral aversion Precocious atherosclerosis Increased LDL cholesterol concentration Increased VLDL cholesterol concentration Arthritis Inappropriate crying Autoimmunity Skin rash Rheumatoid arthritis Elevated erythrocyte sedimentation rate Uveitis Joint swelling Juvenile rheumatoid arthritis Anterior uveitis Abnormality of the auditory canal Cutaneous T-cell lymphoma Cavernous hemangioma Optic nerve dysplasia Multiple lentigines Sparse or absent eyelashes Increased nuchal translucency Endocarditis Anterior creases of earlobe Abnormal tricuspid valve morphology Patchy alopecia Hypoplasia of the frontal lobes Morphological abnormality of the gastrointestinal tract Generalized ichthyosis Laryngeal cleft Functional abnormality of the gastrointestinal tract Tongue thrusting Hyperkeratosis pilaris Abnormality of the hairline Abnormal location of ears Puberty and gonadal disorders Absent eyebrow Melanocytic nevus EEG with occipital slowing Erythema Cerebral cortical atrophy Macrotia EEG abnormality Hydronephrosis Aggressive behavior Telecanthus Low-set, posteriorly rotated ears Abnormal cardiac septum morphology Clinodactyly of the 5th finger Leukemia Neurological speech impairment Pruritus Nail dystrophy Ichthyosis Peripheral axonal neuropathy Long face Joint hypermobility Posteriorly rotated ears Abnormal heart morphology Bruising susceptibility Ptosis Abnormality of prothrombin Abnormality of renal calyx morphology Localized hirsutism Vitreous haze Abnormality of the femoral head Neoplasm Cryptorchidism Downslanted palpebral fissures Thrombocytopenia Dysphagia Ventricular septal defect Atrial septal defect Involuntary movements Hypertonia Short nose Malar flattening Abnormality of cardiovascular system morphology Bulbous nose Palmoplantar keratoderma Ectropion Relative macrocephaly Aplasia/Hypoplasia of the corpus callosum Hemangioma Abnormality of the genitourinary system Delayed gross motor development Optic nerve hypoplasia Palmoplantar hyperkeratosis Abnormality of vision Poor suck Cutis laxa Hyperextensible skin Deep philtrum Redundant skin Brittle hair Failure to thrive in infancy Bilateral ptosis Sparse eyebrow Scaling skin Abnormal palate morphology Oculomotor apraxia Abnormal bleeding Low posterior hairline Nevus Intestinal malrotation Premature birth Dental malocclusion Webbed neck Narrow forehead Coarctation of aorta Fine hair Sparse eyelashes Hemiparesis Inflammatory abnormality of the skin Open mouth Cafe-au-lait spot Lymphedema Cerebral visual impairment Abnormality of the nail Narrow palate Recurrent urinary tract infections Distal amyotrophy Reduced visual acuity Peripheral edema Nasal obstruction Gait ataxia Abnormal cornea morphology Carpal bone hypoplasia Platybasia Wide cranial sutures Recurrent infections Corneal crystals Acidosis Abnormality of the radius Aortic valve calcification Mitral valve calcification Spasticity Microcephaly Delayed menarche Glycogen accumulation in muscle fiber lysosomes Shield chest Hypoglycemia Frontal hirsutism Spinal cord compression Tetraplegia Coma Neutropenia Blepharitis Papilledema Metabolic acidosis Chronic sinusitis Confusion Spastic paraplegia Hypoplastic iliac wing Unsteady gait Paraplegia Hydrocele testis Sparse axillary hair Broad ribs Sparse pubic hair Dilation of lateral ventricles Cervical instability Optic nerve compression Exertional dyspnea Wide nasal bridge Myocardial necrosis Widely patent coronal suture Ventricular preexcitation Contractures of the joints of the upper limbs Abnormality of the styloid process of ulna Abnormality of the humeral epiphysis Impaired myocardial contractility Abnormality of the skeletal system Abnormality of the glenoid fossa Exercise-induced muscle cramps Retinal pigment epithelial mottling Muscle flaccidity Autophagic vacuoles Apnea Myofibrillar myopathy Wide mouth Abnormality of the lumbar spine Abnormality of cranial sutures Progressive flexion contractures Dilated third ventricle Thickened ribs Increased cerebral lipofuscin Abnormality of the acetabulum Suicidal ideation Limited shoulder movement Macular hypopigmentation Exercise-induced muscle stiffness Abnormality of the breast Anterior scalloping of vertebral bodies Small abnormally formed scapulae Short tubular bones of the hand Left ventricular systolic dysfunction Posterior scalloping of vertebral bodies Abnormality of the skull base Abnormality of the sella turcica Abnormal metaphyseal trabeculation Abnormality of femoral epiphysis Aciduria Febrile seizures Abnormality of eye movement Generalized cerebral atrophy/hypoplasia Enterocolitis Cerebral dysmyelination Cerebral hypoplasia Chylous ascites Renal cortical microcysts Fetal ascites Calcific stippling Upslanted palpebral fissure Corpus callosum atrophy Intellectual disability, mild Hypospadias Severe short stature Cerebellar atrophy Hypoplasia of the corpus callosum Talipes equinovarus Urinary excretion of sialylated oligosaccharides Bile duct proliferation Undetectable electroretinogram Bone-marrow foam cells Neonatal hypotonia Gliosis Peripheral demyelination Talipes Cholestasis Heterotopia Pachygyria Large fontanelles Decreased nerve conduction velocity Aspiration pneumonia Hammertoe Decreased muscle mass Delayed cranial suture closure Thoracic hypoplasia Cortical dysplasia Primary adrenal insufficiency Scaphocephaly Adrenal hypoplasia Increased urinary O-linked sialopeptides Cherry red spot of the macula Memory impairment Spastic tetraparesis Aortic valve stenosis Short ribs Abnormality of the basal ganglia Congenital hip dislocation Knee flexion contracture Athetosis Leukoencephalopathy Abnormality of the metacarpal bones Nonprogressive cerebellar ataxia Arnold-Chiari malformation Paraparesis Easy fatigability Coarse hair Limb ataxia Abnormality of dental morphology Spastic tetraplegia 3-Methylglutaconic aciduria Testicular dysgenesis Facial edema Epiphyseal stippling Vacuolated lymphocytes Platyspondyly Barrel-shaped chest Thoracic kyphosis Hand tremor Lower limb muscle weakness Syringomyelia Slurred speech Lower limb spasticity Laryngomalacia Hydrops fetalis Waddling gait Dysmetria Abnormality of the nervous system Tremor Progressive forgetfulness Hyperchloremic acidosis Stroke Wolff-Parkinson-White syndrome Pulmonary arterial hypertension Abnormal mandibular ramus morphology Bullet-shaped phalanges of the hand Broad long bone diaphyses Abnormality of the wing of the ilium Abnormality of the tympanic membrane Stiff interphalangeal joints Abnormal mandible coronoid process morphology Abnormality of premolar morphology Delayed ossification of the hand bones Enlarged vertebral pedicles Renal insufficiency Obesity Clinodactyly Patent ductus arteriosus Hyporeflexia Exercise intolerance Rod-cone dystrophy Proximal tapering of metacarpals Deformed humerus Hypogonadism Calcification of falx cerebri Thoracolumbar kyphoscoliosis Short mandibular rami Cervical kyphosis Abnormal CNS myelination Lumbar kyphosis Abnormality of the pubic bone Hypoplasia of the femoral head C1-C2 subluxation Thick skull base Enlarged tonsils Hypoplastic cervical vertebrae Cervical subluxation Mandibular condyle hypoplasia Flaring of rib cage Broad ischia Abnormality of joint mobility Delayed tarsal ossification Cardiac arrest Diabetes mellitus Cervical myelopathy Gastrointestinal hemorrhage Stage 5 chronic kidney disease Nausea Cirrhosis Tachycardia Hepatic failure Nephropathy Round face Proximal muscle weakness Infertility Decreased testicular size Specific learning disability Cyanosis Hepatitis Optic disc pallor Type II diabetes mellitus Epidermal acanthosis Polymicrogyria Delayed puberty Polydactyly Palpitations Respiratory failure Weight loss Hypothyroidism Pes planus Jaundice Photophobia Deeply set eye Atrial fibrillation Distal sensory impairment Ventricular hypertrophy Postnatal growth retardation Psychosis Autistic behavior Cough Generalized tonic-clonic seizures Chest pain Ophthalmoplegia Calvarial hyperostosis Abnormality of the middle ear ossicles Thick eyebrow Stridor Cerebral palsy Corneal dystrophy Hyperammonemia Recurrent upper respiratory tract infections Prominent supraorbital ridges Hemiplegia Language impairment Metatarsus adductus Coxa vara Flared metaphysis Abnormal electroretinogram Thickened calvaria Ventricular arrhythmia Protruding tongue Short clavicles Hypoplasia of the odontoid process Aortic regurgitation Exotropia Shallow orbits Intellectual disability, profound Inability to walk Reduced ejection fraction Everted lower lip vermilion Delayed eruption of teeth Broad nasal tip Abnormality of the skin Cardiorespiratory arrest Interphalangeal joint contracture of finger Gingival overgrowth Hypokinesia Progressive neurologic deterioration Hypertrichosis Mitral regurgitation Encephalocele Generalized amyotrophy Long eyelashes Abnormality of epiphysis morphology Palpebral edema Abnormality of the elbow Enlargement of the wrists Anterior open bite Retinal fold Chronic rhinitis Biconcave vertebral bodies Mucopolysacchariduria Large face Sclerosis of skull base Difficulty standing Meckel diverticulum Diaphyseal thickening Narrow pelvis bone Flared nostrils Large sella turcica Anterior rib cupping Prominent sternum Atlantoaxial dislocation Abnormal hand morphology Recurrent ear infections Delayed ossification of carpal bones Recurrent lower respiratory tract infections Hypoplastic ilia Abnormality of the skull Abnormality of the clavicle EMG: myopathic abnormalities Abnormality of the respiratory system Beaking of vertebral bodies Large earlobe Upper airway obstruction Conical tooth Broad femoral neck Pulmonary edema Respiratory insufficiency due to muscle weakness Seborrheic dermatitis Ventricular tachycardia Constrictive median neuropathy Hypoplasia of teeth Abnormality of peripheral nerve conduction Rhinorrhea Serositis


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