Congestive heart failure, and Nephrotic syndrome
Diseases related with Congestive heart failure and Nephrotic syndrome
In the following list you will find some of the most common rare diseases related to Congestive heart failure and Nephrotic syndrome that can help you solving undiagnosed cases.
Top matches:
CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis.
CEDNIK SYNDROME Is also known as cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome|cednik syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about CEDNIK SYNDROME
Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form (ISSD) or as a slowly progressive adult form that is prevalent in Finland (Salla disease). The main symptoms are hypotonia, cerebellar ataxia, and mental retardation; visceromegaly and coarse features are also present in the infantile cases. Progressive cerebellar atrophy and dysmyelination have been documented by MRI. Enlarged lysosomes are seen on electron microscopic studies, and patients excrete large amounts of free sialic acid in the urine (Verheijen et al., 1999).
INFANTILE SIALIC ACID STORAGE DISEASE; ISSD Is also known as nsd|sialuria, infantile form|n-acetylneuraminic acid storage disease|nana storage disease
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
SOURCES:
OMIM
MENDELIAN
More info about INFANTILE SIALIC ACID STORAGE DISEASE; ISSD
Schimke immuno-osseous dysplasia (SIOD) is a multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome.
SCHIMKE IMMUNO-OSSEOUS DYSPLASIA Is also known as immunoosseous dysplasia, schimke type|schimke syndrome|spondyloepiphyseal dysplasia-nephrotic syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Short stature
- Scoliosis
- Growth delay
SOURCES:
OMIM
ORPHANET
MESH
MENDELIAN
More info about SCHIMKE IMMUNO-OSSEOUS DYSPLASIA
Too many results?
We can help you with your rare disease diagnosis.
Learn more
Other less relevant matches:
Alagille syndrome is an autosomal dominant disorder that traditionally has been defined by a paucity of intrahepatic bile ducts, in association with 5 main clinical abnormalities: cholestasis, cardiac disease, skeletal abnormalities, ocular abnormalities, and a characteristic facial phenotype (Li et al., 1997). Cholestasis is a direct consequence of the paucity of bile ducts. About 39% of patients also have renal involvement, mainly renal dysplasia (Kamath et al., 2012).Turnpenny and Ellard (2012) reviewed the clinical features, diagnosis, pathogenesis, and genetics of Alagille syndrome. Genetic Heterogeneity of Alagille SyndromeAnother form of Alagille syndrome (ALGS2 ) is caused by mutation in the NOTCH2 gene (OMIM ).
ALAGILLE SYNDROME 1; ALGS1 Is also known as algs|alagille-watson syndrome|alagille syndrome|hepatic ductular hypoplasia, syndromatic|arteriohepatic dysplasia|aws|cholestasis with peripheral pulmonary stenosis|ahd
Related symptoms:
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Growth delay
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about ALAGILLE SYNDROME 1; ALGS1
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
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
Malignant hyperthermia (MH) is a pharmacogenetic disorder of skeletal muscle that presents as a hypermetabolic response to potent volatile anesthetic gases such as halothane, sevoflurane, desflurane and the depolarizing muscle relaxant succinylcholine, and rarely, to stresses such as vigorous exercise and heat.
MALIGNANT HYPERTHERMIA OF ANESTHESIA Is also known as hyperthermia of anesthesia
Related symptoms:
- Fever
- Metabolic acidosis
- Muscle stiffness
- Ventricular tachycardia
- Tachypnea
SOURCES:
ORPHANET
MENDELIAN
More info about MALIGNANT HYPERTHERMIA OF ANESTHESIA
Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.
POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei
Related symptoms:
- Scoliosis
- Growth delay
- Failure to thrive
- Muscle weakness
- Ptosis
SOURCES:
OMIM
MENDELIAN
More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1
Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.
ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency
Related symptoms:
- Ataxia
- Spasticity
- Cognitive impairment
- Anemia
- Delayed speech and language development
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about ACERULOPLASMINEMIA
Top 5 symptoms//phenotypes associated to Congestive heart failure and Nephrotic syndrome
Symptoms // Phenotype |
% cases |
Failure to thrive |
Uncommon - Between 30% and 50% cases
|
Seizures |
Uncommon - Between 30% and 50% cases
|
Stroke |
Uncommon - Between 30% and 50% cases
|
Hepatomegaly |
Uncommon - Between 30% and 50% cases
|
Intellectual disability |
Uncommon - Between 30% and 50% cases
|
Accelerate your rare disease diagnosis with us
Learn more
Other less frequent symptoms
Patients with Congestive heart failure and Nephrotic syndrome. may also develop some of the following symptoms:
Uncommon Symptoms - Between 30% and 50% cases
Short stature
Renal insufficiency
Malabsorption
Proteinuria
Ataxia
Cardiomyopathy
Hearing impairment
Fever
Hypertension
Anemia
Hypothyroidism
Cognitive impairment
Global developmental delay
Growth delay
Dementia
Abnormality of the liver
Pruritus
Headache
Delayed puberty
Myalgia
Vomiting
Ptosis
Diarrhea
Dyspnea
Left ventricular hypertrophy
Fatigue
Cerebellar atrophy
Dilatation
Coarse facial features
Hepatosplenomegaly
Corneal opacity
Abnormality of the kidney
Developmental regression
Depressivity
Glomerulopathy
Chronic kidney disease
Peripheral neuropathy
Glomerulosclerosis
Depressed nasal bridge
Muscular hypotonia
Abnormal facial shape
Abnormality of the dentition
Areflexia
Sensorineural hearing impairment
Dilated cardiomyopathy
Optic atrophy
Nephropathy
Transient ischemic attack
Stage 5 chronic kidney disease
Respiratory distress
Cataract
Hypertelorism
Rare Symptoms - Less than 30% cases
Reduced bone mineral density
Corneal dystrophy
Telangiectasia of the skin
Hyperlipidemia
Renal tubular acidosis
Peripheral arterial stenosis
Pain
Heart murmur
Elevated hepatic transaminase
Lymphedema
Pigmentary retinopathy
Focal segmental glomerulosclerosis
Jaundice
Cirrhosis
Emphysema
Abnormality of the vasculature
Anal atresia
Cerebral ischemia
Protruding ear
Visual loss
Delayed skeletal maturation
Carcinoma
Acidosis
Specific learning disability
Nausea
Respiratory insufficiency
Myopathy
Xerostomia
Renal tubular dysfunction
Tubulointerstitial nephritis
Supraventricular tachycardia
Abnormal myocardium morphology
Abnormality of the renal tubule
Dysesthesia
Muscle weakness
Dysarthria
Tremor
Hypertonia
Bundle branch block
Dystonia
Elevated serum creatine phosphokinase
Diabetes mellitus
Gait ataxia
Confusion
Memory impairment
Involuntary movements
Type I diabetes mellitus
Hyperkinesis
Hyperkalemia
Progressive sensorineural hearing impairment
Polyuria
Behavioral abnormality
Muscle cramps
Arrhythmia
Constipation
Abdominal pain
Anxiety
Hypertrophic cardiomyopathy
Nausea and vomiting
Paresthesia
Vertigo
Abnormal lung morphology
Tachycardia
Sudden cardiac death
Personality changes
Syncope
Abnormality of the cardiovascular system
Ventricular hypertrophy
Atrial fibrillation
Anorexia
Exercise intolerance
Purpura
Ventricular tachycardia
Easy fatigability
Atrioventricular block
Hemiplegia
Abnormal form of the vertebral bodies
Ischemic stroke
Recurrent infections
Bulbous nose
Intrauterine growth retardation
Ichthyosis
Downslanted palpebral fissures
Macrotia
Abnormality of the skeletal system
Abnormal cerebellum morphology
Hypopigmentation of the skin
Osteopenia
Cardiomegaly
Prominent nasal bridge
Abnormality of skin pigmentation
Polyneuropathy
Severe global developmental delay
Scoliosis
Polymicrogyria
Motor delay
Cerebral atrophy
Premature birth
Myopia
Edema
Abnormality of peripheral nerve conduction
Immunodeficiency
Kyphosis
Hypogonadism
Short neck
Nystagmus
Microcephaly
Scarring
Gingival overgrowth
Migraine
Intellectual disability, severe
Agenesis of corpus callosum
Pulmonary arterial hypertension
Dysmetria
Generalized myoclonic seizures
Postural instability
Type II diabetes mellitus
Bilateral sensorineural hearing impairment
Lactic acidosis
Coma
Hirsutism
Generalized-onset seizure
Cerebral calcification
Increased serum lactate
Amenorrhea
Hip dysplasia
Peripheral axonal neuropathy
Sensory impairment
Intellectual disability, profound
Status epilepticus
Cachexia
Hypopigmented skin patches
Mutism
Schizophrenia
Goiter
Wide nasal bridge
Growth abnormality
Decreased nerve conduction velocity
Reduced tendon reflexes
Hypercalciuria
Bilateral ptosis
Aortic aneurysm
Abnormality of mitochondrial metabolism
Hyponatremia
Ophthalmoparesis
Ragged-red muscle fibers
External ophthalmoplegia
Psychosis
Cerebral visual impairment
Hemiparesis
Hypertrichosis
Carious teeth
Decreased body weight
Abnormality of retinal pigmentation
Hallucinations
Clonus
Pancreatitis
Cardiac arrest
Truncal ataxia
EMG abnormality
Generalized hirsutism
Hypogonadotrophic hypogonadism
Macular degeneration
Hypoplasia of the corpus callosum
Neurological speech impairment
Congenital cataract
Tenesmus
Impaired renal concentrating ability
Abnormality of glycosphingolipid metabolism
Abnormality of the forehead
Hyperkeratotic papule
Tortuosity of conjunctival vessels
Left ventricular septal hypertrophy
Heavy proteinuria
ST segment depression
Acroparesthesia
Abnormal common carotid artery morphology
Abnormal ST segment
Increased carotid artery intimal medial thickness
Increased glomerular filtration rate
Abnormality of the common coagulation pathway
Functional abnormality of the gastrointestinal tract
Unexplained fevers
Cornea verticillata
Obstructive lung disease
Decreased glomerular filtration rate
Vascular tortuosity
Distal renal tubular acidosis
Increased blood urea nitrogen
Reduced sperm motility
Angiokeratoma
Impaired temperature sensation
Mucosal telangiectasiae
Hyposthenuria
Shortened QT interval
Angiokeratoma corporis diffusum
Decreased lacrimation
Shortened PR interval
Coronary artery stenosis
Concentric hypertrophic cardiomyopathy
Abnormal glomerular filtration rate
Feeding difficulties
Ophthalmoplegia
Abnormality of the pinna
Gastroesophageal reflux
Photophobia
EEG abnormality
Apnea
Mental deterioration
Feeding difficulties in infancy
Erythema
Weight loss
Nyctalopia
Attention deficit hyperactivity disorder
Aplasia/Hypoplasia of the cerebellum
Generalized tonic-clonic seizures
Lethargy
Arthrogryposis multiplex congenita
Autism
Cerebral cortical atrophy
Visual impairment
Blindness
Hyperreflexia
Skeletal muscle atrophy
Long face
Gait disturbance
Dysphagia
Ventriculomegaly
Abnormality of eye movement
Abnormality of the eye
Dolichocephaly
Encephalopathy
Hyporeflexia
Cerebellar hypoplasia
Rod-cone dystrophy
Myoclonus
Osteoporosis
Intestinal obstruction
Vestibular dysfunction
Bifid scrotum
Acute hepatic failure
Abnormality of the coagulation cascade
Acute kidney injury
Malignant hyperthermia
Myoglobinuria
Ventricular extrasystoles
Hyperphosphatemia
Acute rhabdomyolysis
Muscle stiffness
Exercise-induced rhabdomyolysis
Hypercapnia
Elevated creatine kinase after exercise
Necrotizing myopathy
Intermittent painful muscle spasms
Abnormality of skeletal muscles
Tachypnea
Metabolic acidosis
Abnormality of masseter muscle
Bilateral intracranial calcifications
Abnormal mitochondrial shape
Paralytic ileus
Abnormal cochlea morphology
Homonymous hemianopia
Abnormality of acid-base homeostasis
Episodic quadriplegia
Morphological abnormality of the vestibule of the inner ear
Ventricular flutter
Morphological abnormality of the inner ear
Prominent ear helix
Left ventricular noncompaction
Pulmonary edema
Oliguria
Left ventricular noncompaction cardiomyopathy
High-output congestive heart failure
Cardiomyocyte mitochondrial proliferation
Progressive night blindness
Increased serum ferritin
Chorea
Abnormality of extrapyramidal motor function
Torticollis
Cerebral palsy
Slurred speech
Muscle fibrillation
Blepharospasm
Neurodegeneration
Cogwheel rigidity
Scanning speech
Refractory anemia
Decreased serum ceruloplasmin
Elevated hepatic iron concentration
Decreased serum iron
Parkinsonism
Retinal degeneration
Proximal muscle weakness
Severe failure to thrive
Lymphadenopathy
Eczema
Progressive muscle weakness
Psoriasiform dermatitis
Leukocytosis
Progressive proximal muscle weakness
Recurrent pharyngitis
Poor speech
Pyelonephritis
Gastrointestinal inflammation
Pharyngitis
Spasticity
Delayed speech and language development
Difficulty walking
Rigidity
Cochlear degeneration
Cochlear malformation
Mask-like facies
Heart block
Drowsiness
Atopic dermatitis
Hashimoto thyroiditis
Abnormality of visual evoked potentials
Neonatal hypoglycemia
Vitiligo
Hypoparathyroidism
Pulmonary embolism
Mitochondrial myopathy
Progressive external ophthalmoplegia
Posterior subcapsular cataract
Delusions
Cardiorespiratory arrest
Facial diplegia
Distal arthrogryposis
Primary adrenal insufficiency
Visual hallucinations
Dysphasia
Hemiplegia/hemiparesis
Abnormality of neuronal migration
Overlapping toe
Adrenal insufficiency
Aphasia
Abnormality of temperature regulation
Visual field defect
Abnormality of immune system physiology
Prolonged QT interval
Multiple lipomas
Vertebral fusion
Basal ganglia calcification
Hyperthyroidism
Rhabdomyolysis
Thyroiditis
Aortic dissection
Increased CSF lactate
Edema of the dorsum of hands
Psychotic episodes
Gastroparesis
Amaurosis fugax
Auditory hallucinations
Abnormal nerve conduction velocity
Renal Fanconi syndrome
Tubulointerstitial abnormality
Abnormality of the cerebellar vermis
Leber optic atrophy
Crohn's disease
Hemeralopia
Abnormal macular morphology
Spotty hypopigmentation
Paronychia
Abnormal mitochondrial morphology
Spontaneous hematomas
Persistence of primary teeth
Wolff-Parkinson-White syndrome
Speech apraxia
Reduced consciousness/confusion
Gait imbalance
Anterior hypopituitarism
Stroke-like episode
Seborrheic dermatitis
Left ventricular failure
Retinal pigment epithelial atrophy
Writer's cramp
Proximal tubulopathy
Ileus
Hemianopia
Episodic vomiting
Motor polyneuropathy
Psychomotor deterioration
Muscle fiber atrophy
Nephrogenic diabetes insipidus
Supraventricular arrhythmia
Limb pain
Triangular face
Pointed chin
Abnormal vertebral morphology
Exotropia
Renal dysplasia
Cholestasis
Hypertriglyceridemia
Renal hypoplasia
Coarctation of aorta
Abnormality of the ribs
Tetralogy of Fallot
Gastrointestinal hemorrhage
Prominent nose
Round face
Vesicoureteral reflux
Hypodontia
Multicystic kidney dysplasia
Thrombocytopenia
Deeply set eye
Hyperlordosis
Conductive hearing impairment
Thin upper lip vermilion
Pneumonia
Craniosynostosis
Retinopathy
Microcornea
Short philtrum
Broad forehead
Pulmonic stenosis
Hepatic failure
Flat face
Short distal phalanx of finger
Hemivertebrae
Finger clinodactyly
Brachycephaly
Abnormal pupil morphology
Pulmonary artery stenosis
Coronal craniosynostosis
Intrahepatic cholestasis
Visceromegaly
Cholestatic liver disease
Thyroid carcinoma
Peripheral pulmonary artery stenosis
Hepatocellular carcinoma
Fat malabsorption
Hypopigmentation of the fundus
Arterial stenosis
Butterfly vertebrae
Abnormal anterior chamber morphology
Biliary atresia
Dilatation of the cerebral artery
Exocrine pancreatic insufficiency
Spina bifida occulta
Vertebral segmentation defect
Hypercholesterolemia
Renal hypoplasia/aplasia
Portal hypertension
Fetal ascites
Hypoplasia of the ulna
Malnutrition
Chorioretinal atrophy
Posterior embryotoxon
Long nose
Prolonged neonatal jaundice
J-shaped sella turcica
Keratoconus
Vacuolated lymphocytes
Abnormality of the ureter
Autoimmunity
Upslanted palpebral fissure
Papillary thyroid carcinoma
Nephritis
Disproportionate short-trunk short stature
Ovoid vertebral bodies
Thoracic kyphosis
Neutropenia
Protuberant abdomen
Multiple cafe-au-lait spots
Steatorrhea
Hypermelanotic macule
Combined immunodeficiency
High pitched voice
Gliosis
Brain atrophy
Spondyloepiphyseal dysplasia
Melanocytic nevus
Glomerulonephritis
Lymphoproliferative disorder
Opacification of the corneal stroma
Lumbar hyperlordosis
Microdontia
Heterotopia
Abnormality of epiphysis morphology
Lymphopenia
Bone marrow hypocellularity
Atherosclerosis
Epiphyseal dysplasia
Decreased testicular size
Azoospermia
Waddling gait
Coarse hair
Lymphoma
Encephalitis
B-cell lymphoma
Villous atrophy
Prominent forehead
Frontal bossing
Lateral displacement of the femoral head
Neoplasm
Micrognathia
Strabismus
Astigmatism
Cryptorchidism
Ventricular septal defect
Anterior pituitary dysgenesis
Atrial septal defect
Intellectual disability, mild
Clinodactyly
Platyspondyly
Hip dislocation
Clinodactyly of the 5th finger
Nephrosclerosis
Premature arteriosclerosis
Precocious atherosclerosis
Mucopolysacchariduria
Subvalvular aortic stenosis
Dentinogenesis imperfecta
Cellular immunodeficiency
Right ventricular cardiomyopathy
Arteriosclerosis
Hypoplasia of the capital femoral epiphysis
Multiple lentigines
Moyamoya phenomenon
Steroid-resistant nephrotic syndrome
Shallow acetabular fossae
Increased thyroid-stimulating hormone level
Encephalomalacia
Abnormal T cell morphology
Abnormal immunoglobulin level
Band keratopathy
Axenfeld anomaly
Corneal crystals
Aortic root aneurysm
Reduced ejection fraction
Heat intolerance
Progressive microcephaly
Large earlobe
Oligospermia
Abnormality of the gastrointestinal tract
Tubular atrophy
Elevated serum creatinine
Short chin
Edema of the lower limbs
Intellectual disability, progressive
Poor head control
Abnormal EKG
Abnormality of lipid metabolism
Wheezing
Angina pectoris
Impotence
Tricuspid regurgitation
Diabetes insipidus
Cortical dysplasia
Anhidrosis
Loss of consciousness
Palmoplantar hyperkeratosis
Coronary artery atherosclerosis
Glycosuria
Elevated erythrocyte sedimentation rate
Interstitial pulmonary abnormality
Abnormality of vision
Orthostatic hypotension
Celiac disease
Abnormal heart valve morphology
Clubbing of fingers
Chronic obstructive pulmonary disease
Clubbing
Microalbuminuria
Abnormal thrombosis
Depressed nasal ridge
Abnormal cornea morphology
Palmoplantar keratoderma
Fine hair
Conjunctival telangiectasia
Primary hypothyroidism
Chronic pain
Biventricular hypertrophy
Abnormal endocardium morphology
Abnormality of cardiovascular system physiology
Decreased female libido
Vascular skin abnormality
Retinal vascular tortuosity
Tubulointerstitial fibrosis
Abnormal renal physiology
Achalasia
Pachygyria
Sinus bradycardia
Myocardial fibrosis
Chronic fatigue
Abnormality of femur morphology
Abnormality of the nose
Restrictive cardiomyopathy
High-frequency hearing impairment
Miosis
Asymmetric septal hypertrophy
Abnormal mitral valve morphology
Periorbital fullness
Gastrointestinal dysmotility
Abnormal aortic valve morphology
T-wave inversion
Impaired vibratory sensation
Polydipsia
Vitamin D deficiency
Ascites
Hydrops fetalis
Hyperkeratosis
Mandibular prognathia
Arthralgia
Arthritis
Abnormality of the nervous system
Skin rash
Posteriorly rotated ears
Cough
Papule
Abnormality of the cerebral white matter
Abnormality of the foot
Respiratory tract infection
Inguinal hernia
Hyperhidrosis
Aspiration
Thick vermilion border
Reduced number of intrahepatic bile ducts
Renal artery stenosis
Multiple small medullary renal cysts
Chronic hepatic failure
Intrahepatic biliary atresia
Unicoronal synostosis
Rectourethral fistula
Butterfly vertebral arch
Abnormality of the thorax
Conjugated hyperbilirubinemia
Dysostosis multiplex
Fair hair
Esophageal atresia
Midface retrusion
Metaphyseal irregularity
Thick eyebrow
Hematuria
Abnormal corpus callosum morphology
Progressive hearing impairment
Spontaneous abortion
High palate
Aminoaciduria
Generalized hypotonia
Aortic regurgitation
Abnormal intestine morphology
Optic disc hypoplasia
Fasciculations
Ventricular arrhythmia
Tinnitus
Diffuse palmoplantar keratoderma
Perisylvian polymicrogyria
Prominent supraorbital ridges
Abnormality of the hand
Abnormal autonomic nervous system physiology
Bradycardia
Hernia
Hydrocephalus
Abdominal distention
Chest pain
Splenomegaly
Urinary incontinence
Hypotension
Mitral valve prolapse
Thick lower lip vermilion
Hypohidrosis
Anteverted nares
Myocardial infarction
Palpitations
Mitral regurgitation
Subcutaneous nodule
Epicanthus
Aceruloplasminemia
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like
Arthritis and Nausea and vomiting, related diseases and genetic alterations
Neuroblastoma and Agenesis of corpus callosum, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
Learn more