Congestive heart failure, and Bulbous nose
Diseases related with Congestive heart failure and Bulbous nose
In the following list you will find some of the most common rare diseases related to Congestive heart failure and Bulbous nose that can help you solving undiagnosed cases.
Top matches:
Autosomal recessive cutis laxa type IID (ARCL2D) is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial features. Most patients also exhibit severe hypotonia as well as cardiovascular and neurologic involvement (summary by Van Damme et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive cutis laxa, see ARCL1A (OMIM ).
Related symptoms:
- Seizures
- Generalized hypotonia
- Microcephaly
- Hypertelorism
- Failure to thrive
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IID; ARCL2D
The neonatal form of carnitine palmitoyltransferase II (CPT II) deficiency (see this term), an inherited disorder that affects mitochondrial oxidation of long chain fatty acids (LCFA), is the lethal form of the disease which presents with multisystem failure.
CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM Is also known as carnitine palmitoyl transferase deficiency type 2, lethal systemic form|carnitine palmitoyltransferase ii deficiency, neonatal|cpt2 deficiency, lethal neonatal|carnitine palmitoyl transferase ii deficiency, lethal systemic form|carnitine palmitoyltransfer
Related symptoms:
- Seizures
- Generalized hypotonia
- Microcephaly
- Muscular hypotonia
- Cataract
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about CARNITINE PALMITOYL TRANSFERASE II DEFICIENCY, NEONATAL FORM
MEND syndrome is a rare, genetic, syndromic, sterol biosynthesis disorder affecting males characterized by skin manifestations, including collodion membrane, ichthyosis, and patchy hypopigmentary lesions, associated with severe neurological involvement (e.g. intellectual disability, delayed psychomotor development, seizures, hydrocephalus, cerebellar/corpus callosum hypoplasia, Dandy-Walker malformation, hypotonia) and craniofacial dysmorphism (large anterior fontanelle, telecanthus, hypertelorism, microphthalmia, prominent nasal bridge, low-set ears, micrognathia, cleft palate). 2,3 toe syndactyly, polydactyly, and kyphosis, as well as ophthalmic, cardiac and urogenital anomalies may also be associated.
MEND SYNDROME Is also known as male ebp disorder with neurologic defects|male ebp disorder with neurological defects
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about MEND SYNDROME
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Other less relevant matches:
Andersen-Tawil syndrome is an autosomal dominant multisystem channelopathy characterized by periodic paralysis, ventricular arrhythmias, and distinctive dysmorphic facial or skeletal features. Hypoplastic kidney and valvular heart disease have also been reported. The disorder shows marked intrafamilial variability and incomplete penetrance (summary by Davies et al., 2005).
ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS Is also known as ats|andersen syndrome|long qt syndrome 7|periodic paralysis, potassium-sensitive cardiodysrhythmic type|lqt7|andersen-tawil syndrome
Related symptoms:
- Seizures
- Short stature
- Microcephaly
- Scoliosis
- Ataxia
SOURCES:
OMIM
MENDELIAN
More info about ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS
Zimmermann-Laband syndrome (ZLS) is a rare disorder characterized by gingival fibromatosis, coarse facial appearance, and absence or hypoplasia of nails or terminal phalanges of hands and feet.
ZIMMERMANN-LABAND SYNDROME Is also known as laband syndrome|gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome|fibromatosis, gingival, with abnormal fingers, fingernails, nose, and ears, and splenomegaly
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Hearing impairment
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about ZIMMERMANN-LABAND SYNDROME
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
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
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
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
Char syndrome is characterized by the triad of patent ductus arteriosus (PDA), facial dysmorphism and hand anomalies.
CHAR SYNDROME Is also known as patent ductus arteriosus with facial dysmorphism and abnormal fifth digits
Related symptoms:
- Global developmental delay
- Hearing impairment
- Hypertelorism
- Strabismus
- Abnormal facial shape
SOURCES:
ORPHANET
OMIM
MESH
MENDELIAN
More info about CHAR SYNDROME
Top 5 symptoms//phenotypes associated to Congestive heart failure and Bulbous nose
Symptoms // Phenotype |
% cases |
Seizures |
Very Common - Between 80% and 100% cases
|
Cardiomyopathy |
Common - Between 50% and 80% cases
|
Cataract |
Common - Between 50% and 80% cases
|
Generalized hypotonia |
Common - Between 50% and 80% cases
|
Low-set ears |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Congestive heart failure and Bulbous nose. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Short stature
Uncommon Symptoms - Between 30% and 50% cases
High palate
Hearing impairment
Thick vermilion border
Scoliosis
Posteriorly rotated ears
Wide nasal bridge
Intellectual disability
Hypertrophic cardiomyopathy
Abnormal facial shape
Downslanted palpebral fissures
Myopia
Failure to thrive
Strabismus
Hypertelorism
Hepatomegaly
Malar flattening
Ventriculomegaly
Global developmental delay
Ventricular septal defect
Depressed nasal bridge
Coarse facial features
Ventricular arrhythmia
Thick eyebrow
Growth delay
Vomiting
Cardiomegaly
Abnormality of the kidney
Premature birth
High forehead
Hyperlipidemia
Midface retrusion
Micrognathia
Coarctation of aorta
Pain
Fever
Abnormality of the dentition
Depressivity
Clinodactyly of the 5th finger
Thin upper lip vermilion
Broad forehead
Toe syndactyly
Hypertension
Polyhydramnios
Abnormal heart valve morphology
Polydactyly
Renal insufficiency
Syndactyly
Abnormality of the skeletal system
Brachydactyly
Arrhythmia
Scarring
Microcephaly
Cryptorchidism
Protruding ear
Muscular hypotonia
Anteverted nares
Hernia
Macrotia
Rare Symptoms - Less than 30% cases
Glomerulopathy
Progressive hearing impairment
Persistence of primary teeth
Gastrointestinal dysmotility
Abnormal mitral valve morphology
Sensorineural hearing impairment
Abnormal myocardium morphology
Abnormality of the gastrointestinal tract
Heart murmur
Ventricular hypertrophy
Lymphedema
Myocardial infarction
Abnormality of the cardiovascular system
Abdominal distention
Macrocephaly
Intellectual disability, severe
Splenomegaly
Dilatation
Patent ductus arteriosus
Mandibular prognathia
Abnormal aortic valve morphology
Loss of consciousness
Functional abnormality of the gastrointestinal tract
Short nose
Broad nasal tip
Intellectual disability, mild
Full cheeks
Sleep disturbance
Clinodactyly
Delayed skeletal maturation
Abnormality of cardiovascular system morphology
Long philtrum
Pulmonic stenosis
Tachycardia
High pitched voice
Delayed eruption of teeth
Syncope
Ptosis
Palpitations
Decreased body weight
Ventricular tachycardia
Bicuspid aortic valve
Growth abnormality
Abnormality of the cerebral white matter
Dyspnea
Joint hypermobility
Umbilical hernia
Nephrotic syndrome
Developmental regression
Ataxia
Stroke
Corneal opacity
Malabsorption
Astigmatism
Stage 5 chronic kidney disease
Abnormality of skin pigmentation
Nephropathy
Edema
Fine hair
Constipation
Abnormal lung morphology
Reduced bone mineral density
Coarse hair
Optic atrophy
Chronic kidney disease
Glomerulosclerosis
Melanocytic nevus
Multiple lentigines
Emphysema
Multiple cafe-au-lait spots
Behavioral abnormality
Proteinuria
Transient ischemic attack
Carcinoma
Pruritus
Intellectual disability, profound
Thick lower lip vermilion
Thickened skin
Hemangioma
Large for gestational age
Aortic root aneurysm
Dystrophic fingernails
Hyperextensibility of the finger joints
Cavernous hemangioma
Cognitive impairment
Osteopenia
Anemia
Myalgia
Short neck
Hyperkeratosis
Diarrhea
Kyphosis
Hyperhidrosis
Immunodeficiency
Headache
Thrombocytopenia
Hypothyroidism
Muscle weakness
Subvalvular aortic stenosis
Feeding difficulties
Respiratory insufficiency
Flexion contracture
Prominent nasal bridge
Prominent forehead
Abnormal cardiac septum morphology
Hyperkalemia
Enlarged kidney
Low-set, posteriorly rotated ears
Agenesis of corpus callosum
Aggressive behavior
Elevated serum creatine phosphokinase
Deeply set eye
Respiratory distress
Sloping forehead
Cerebral cortical atrophy
Ichthyosis
Narrow palpebral fissure
Hypoplasia of the corpus callosum
Cutis laxa
Atrial septal defect
Inguinal hernia
Fatigue
Pneumonia
Hypertonia
Hydrocephalus
Cleft palate
Biventricular hypertrophy
Motor delay
Bundle branch block
Overfolded helix
Delayed speech and language development
Gliosis
Triangular face
Narrow forehead
Hydronephrosis
Feeding difficulties in infancy
Hepatic failure
Hepatic steatosis
Elevated hepatic transaminase
Hypoglycemia
Polymicrogyria
Long face
Narrow palate
Blepharophimosis
2-3 toe syndactyly
Wide intermamillary distance
Dysphagia
Dysarthria
Frontal bossing
Retinal dystrophy
Bruising susceptibility
High, narrow palate
Pectus carinatum
Epicanthus
Micropenis
Neoplasm
Talipes equinovarus
Nystagmus
Cornea verticillata
Palmoplantar keratoderma
Abnormal glomerular filtration rate
Abnormality of the common coagulation pathway
Increased glomerular filtration rate
Increased carotid artery intimal medial thickness
Abnormal ST segment
Abnormal common carotid artery morphology
Acroparesthesia
Blindness
Encephalopathy
Falls
EEG abnormality
Sparse hair
Erythema
Respiratory tract infection
Irritability
Leukemia
Abnormality of the eye
Telecanthus
Neurological speech impairment
Heavy proteinuria
Nail dystrophy
Gastroesophageal reflux
Cerebral atrophy
Proptosis
Dolichocephaly
Hypermetropia
Autism
Alopecia
Hypotrichosis
Genu valgum
Dry skin
Abnormal heart morphology
Pectus excavatum
Peripheral axonal neuropathy
Epiphyseal stippling
Concentric hypertrophic cardiomyopathy
Tenesmus
T-wave inversion
Abnormality of the nose
Restrictive cardiomyopathy
High-frequency hearing impairment
Asymmetric septal hypertrophy
Periorbital fullness
Camptodactyly
Miosis
Chronic fatigue
Abnormal renal physiology
Chronic pain
Tubulointerstitial fibrosis
Abnormal thrombosis
Abnormality of the renal tubule
Abnormal cornea morphology
Abnormality of femur morphology
Myocardial fibrosis
Supraventricular arrhythmia
Supraventricular tachycardia
Tubulointerstitial nephritis
Elevated serum creatinine
Tubular atrophy
Sepsis
Oligospermia
Large earlobe
Heat intolerance
Sinus bradycardia
Reduced ejection fraction
Peripheral arterial stenosis
Clubbing of fingers
Angina pectoris
Chronic obstructive pulmonary disease
Achalasia
Dysesthesia
Conjunctival telangiectasia
Left ventricular septal hypertrophy
Unexplained fevers
Shortened QT interval
Angiokeratoma corporis diffusum
Decreased lacrimation
Shortened PR interval
Coronary artery stenosis
Mucosal telangiectasiae
ST segment depression
Impaired temperature sensation
Retrognathia
Impaired renal concentrating ability
Abnormality of glycosphingolipid metabolism
Abnormality of the forehead
Hyperkeratotic papule
Tortuosity of conjunctival vessels
Hyposthenuria
Obstructive lung disease
Microalbuminuria
Corneal crystals
Primary hypothyroidism
Abnormal endocardium morphology
Abnormality of cardiovascular system physiology
Decreased female libido
Vascular skin abnormality
Retinal vascular tortuosity
Limb pain
Angiokeratoma
Abnormality of temperature regulation
Nephrogenic diabetes insipidus
Decreased glomerular filtration rate
Vascular tortuosity
Distal renal tubular acidosis
Increased blood urea nitrogen
Reduced sperm motility
Abnormal bleeding
Inflammatory abnormality of the skin
Nevus
Abnormality of the auditory canal
Abnormality of the hairline
Abnormal location of ears
Puberty and gonadal disorders
Morphological abnormality of the gastrointestinal tract
Cutaneous T-cell lymphoma
Inappropriate crying
Multiple palmar creases
Tongue thrusting
Eyelid fasciculation
Multiple plantar creases
Oral aversion
Skeletal muscle atrophy
Myopathy
Obesity
Hyperkeratosis pilaris
Laryngeal cleft
Abnormality of the liver
Endocarditis
Thickened helices
Abnormality of the pulmonary artery
Excessive wrinkled skin
Abnormality of hair texture
Sparse or absent eyelashes
Increased nuchal translucency
Frontal balding
Generalized ichthyosis
Anterior creases of earlobe
Abnormality of the optic disc
Abnormal tricuspid valve morphology
Patchy alopecia
Optic nerve dysplasia
Hypoplasia of the frontal lobes
Proximal muscle weakness
Cirrhosis
Deep palmar crease
Short middle phalanx of the 5th finger
Hypodontia
Depressed nasal ridge
Finger clinodactyly
Hand polydactyly
Supernumerary nipple
Prominent occiput
Triangular mouth
Everted lower lip vermilion
Mesoaxial hand polydactyly
No permanent dentition
Parasomnia
Muscular ventricular septal defect
Symphalangism of the 5th finger
Mesoaxial foot polydactyly
Highly arched eyebrow
Short philtrum
Thin vermilion border
Decreased liver function
Distal amyotrophy
Otitis media
Epistaxis
Hypertriglyceridemia
Progressive muscle weakness
Hepatic fibrosis
Sinusitis
Craniosynostosis
Recurrent sinusitis
Ketosis
Recurrent corneal erosions
Skeletal myopathy
Micronodular cirrhosis
Periportal fibrosis
Ketotic hypoglycemia
Slow-growing hair
Abnormality of refraction
Vesicoureteral reflux
Poor suck
Abnormality of the genitourinary system
Delayed gross motor development
Optic nerve hypoplasia
Palmoplantar hyperkeratosis
Abnormality of vision
Relative macrocephaly
Hyperextensible skin
Aplasia/Hypoplasia of the corpus callosum
Deep philtrum
Redundant skin
Brittle hair
Failure to thrive in infancy
Bilateral ptosis
Sparse eyebrow
Sleep apnea
Abnormal palate morphology
Pleural effusion
Hemiparesis
Intestinal malrotation
Dental malocclusion
Webbed neck
Growth hormone deficiency
Progressive visual loss
Low posterior hairline
Renal tubular dysfunction
Oculomotor apraxia
Open mouth
Cafe-au-lait spot
Hyperpigmentation of the skin
Cerebral visual impairment
Aspiration
Abnormality of the nail
Sparse eyelashes
Scaling skin
Ectropion
Delayed CNS myelination
Premature skin wrinkling
Atopic dermatitis
Alopecia of scalp
Abnormal eyelash morphology
Arnold-Chiari type I malformation
Absent eyelashes
Hypoplasia of the zygomatic bone
Abnormality of the ulna
Underdeveloped supraorbital ridges
Short attention span
Woolly hair
Thick upper lip vermilion
Abnormal hair pattern
Abnormality of the optic nerve
Abnormality of the testis
Poor appetite
Anal stenosis
Cubitus valgus
Aplasia/Hypoplasia of the eyebrow
Chronic otitis media
Obsessive-compulsive behavior
Absent eyebrow
Open bite
Malnutrition
Hydroureter
Neurodevelopmental delay
Submucous cleft hard palate
Neurofibromas
Infantile spasms
Abnormality of the sternum
Long palpebral fissure
Biparietal narrowing
Curly hair
Generalized hyperpigmentation
Edema of the lower limbs
Clubbing
Xerostomia
Small nail
Pericardial effusion
Anonychia
Abnormality of nervous system morphology
Metaphyseal widening
Spina bifida occulta
Accelerated skeletal maturation
Intellectual disability, progressive
Hemivertebrae
Generalized hirsutism
Gingival overgrowth
Dicarboxylic aciduria
Nephrolithiasis
Hypertrichosis
Increased total bilirubin
Macrovesicular hepatic steatosis
Protruding tongue
Congenital cataract
Decreased plasma free carnitine
Hepatic calcification
Basal ganglia cysts
Elevated long chain fatty acids
Hepatosplenomegaly
Wide mouth
Synophrys
Bilateral sensorineural hearing impairment
Increased muscle lipid content
Nonketotic hypoglycemia
Short distal phalanx of finger
Hirsutism
Macroglossia
Overgrowth
Long toe
Broad ribs
Intracerebral periventricular calcifications
Cerebral hemorrhage
Autoimmunity
Aciduria
Hyperlordosis
Oligohydramnios
Renal dysplasia
Elbow flexion contracture
Multicystic kidney dysplasia
Dementia
Knee flexion contracture
Recurrent infections
Hyperammonemia
Polycystic kidney dysplasia
Hypoplastic toenails
Cerebellar atrophy
Intrauterine growth retardation
Ureteral duplication
Biliary atresia
Thin bony cortex
Colpocephaly
Long penis
Gingival fibromatosis
Cystic renal dysplasia
Hypoketotic hypoglycemia
Generalized hypertrichosis
Heart block
Everted upper lip vermilion
Aortic arch aneurysm
Prominent eyelashes
Short distal phalanx of toe
Mesiodens
Hypothermia
Tapered toe
Antenatal intracerebral hemorrhage
Metabolic acidosis
Esotropia
Smooth philtrum
Specific learning disability
Short metacarpal
Hypoplasia of the maxilla
Short foot
Small hand
Inability to walk
Short palm
Wide nose
Facial asymmetry
Single transverse palmar crease
Hypopigmentation of the skin
Paralysis
Joint laxity
Gait ataxia
Short palpebral fissure
Long fingers
Overlapping fingers
Otosclerosis
Long neck
Spotty hypopigmentation
Hypoplastic aortic arch
Olivopontocerebellar hypoplasia
Broad hallux
Dandy-Walker malformation
Ectopic kidney
Overlapping toe
Self-injurious behavior
Sacral dimple
Microretrognathia
Aortic valve stenosis
Renal hypoplasia
Tetraparesis
Decreased plasma total carnitine
Scaphocephaly
Elevated serum long-chain fatty acids
Long-chain dicarboxylic aciduria
Prominent U wave
Prominent frontal sinuses
Bidirectional ventricular ectopy
Antegonial notching of mandible
Periodic hyperkalemic paralysis
Short mandibular rami
Periodic hypokalemic paresis
Clinodactyly of the 5th toe
Toe clinodactyly
Delayed eruption of permanent teeth
Hyperactivity
Periodic paralysis
Hyperthyroidism
Hypoplasia of dental enamel
Short metatarsal
Short phalanx of finger
Cardiac arrest
Short chin
Scapular winging
Muscular hypotonia of the trunk
Oligodontia
Hypokalemia
Slender long bone
Myotonia
Preauricular pit
Skeletal dysplasia
Prolonged QT interval
Agenesis of permanent teeth
Long nose
Coma
Hip dislocation
Abnormal EKG
Sudden cardiac death
Abnormal autonomic nervous system physiology
Fasciculations
Bradycardia
Convex nasal ridge
Hypohidrosis
Anorexia
Left ventricular hypertrophy
Subcutaneous nodule
Mitral regurgitation
Atrial fibrillation
Pointed chin
Mitral valve prolapse
Hypotension
Urinary incontinence
Chest pain
Exercise intolerance
Mask-like facies
Arthritis
Anxiety
Abnormality of the nervous system
Skin rash
Cough
Papule
Focal impaired awareness seizure
Muscle cramps
Nausea and vomiting
Delayed puberty
Paresthesia
Vertigo
Nausea
Hematuria
Spontaneous abortion
Aminoaciduria
Arthralgia
Diabetes insipidus
Abnormality of lipid metabolism
Wheezing
Renal tubular acidosis
Glycosuria
Telangiectasia of the skin
Celiac disease
Orthostatic hypotension
Progressive sensorineural hearing impairment
Interstitial pulmonary abnormality
Elevated erythrocyte sedimentation rate
Coronary artery atherosclerosis
Impotence
Anhidrosis
Polyuria
Tricuspid regurgitation
Purpura
Easy fatigability
Aortic regurgitation
Abnormal intestine morphology
Focal-onset seizure
Corneal dystrophy
Ischemic stroke
Tinnitus
Atrioventricular block
Impaired vibratory sensation
Prominent supraorbital ridges
Abnormality of the hand
Hemiplegia
Polydipsia
Personality changes
Narrow nose
Right bundle branch block
Disproportionate tall stature
Platyspondyly
Abnormality of epiphysis morphology
Focal segmental glomerulosclerosis
Spondyloepiphyseal dysplasia
Nephritis
Glomerulonephritis
Epiphyseal dysplasia
Respiratory failure
Encephalitis
Acidosis
Azoospermia
Neonatal hypotonia
Atherosclerosis
Opacification of the corneal stroma
Bone marrow hypocellularity
Lymphopenia
Heterotopia
Hypermelanotic macule
Migraine
Tapered finger
Abnormality of the foot
Lethargy
Neutropenia
Abnormal cerebellum morphology
Brain atrophy
Dilated cardiomyopathy
Abnormal form of the vertebral bodies
Lymphoma
Waddling gait
Decreased testicular size
Microdontia
Lumbar hyperlordosis
Apnea
Combined immunodeficiency
Steatorrhea
Abdominal pain
Anterior pituitary dysgenesis
Increased thyroid-stimulating hormone level
Encephalomalacia
Abnormal T cell morphology
Abnormal immunoglobulin level
Moyamoya phenomenon
Premature arteriosclerosis
Nephrosclerosis
Steroid-resistant nephrotic syndrome
Lateral displacement of the femoral head
Peripheral neuropathy
Narrow naris
Wide nasal base
Cavum septum pellucidum
Entropion
Shallow acetabular fossae
Hyperreflexia
Protuberant abdomen
Villous atrophy
Abnormality of the vasculature
Thoracic kyphosis
Ovoid vertebral bodies
Disproportionate short-trunk short stature
B-cell lymphoma
Lymphoproliferative disorder
Cerebral ischemia
Mucopolysacchariduria
Precocious atherosclerosis
Dentinogenesis imperfecta
Cellular immunodeficiency
Right ventricular cardiomyopathy
Arteriosclerosis
Hypoplasia of the capital femoral epiphysis
Distal/middle symphalangism of 5th finger
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