Cataract, and Left ventricular hypertrophy
Diseases related with Cataract and Left ventricular hypertrophy
In the following list you will find some of the most common rare diseases related to Cataract and Left ventricular hypertrophy that can help you solving undiagnosed cases.
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Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A), which includes both the more severe Walker-Warburg syndrome (WWS) and the slightly less severe muscle-eye-brain disease (MEB), is an autosomal recessive disorder with characteristic brain and eye malformations, profound mental retardation, congenital muscular dystrophy, and death usually in the first years of life. It represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of DAG1 (OMIM ), collectively known as 'dystroglycanopathies' (Beltran-Valero de Bernabe et al., 2004).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5 Is also known as walker-warburg syndrome or muscle-eye-brain disease, fkrp-related
Related symptoms:
- Intellectual disability
- Global developmental delay
- Generalized hypotonia
- Cataract
- Feeding difficulties
SOURCES:
OMIM
MENDELIAN
More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5
Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3
Related symptoms:
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
- Ataxia
SOURCES:
MESH
OMIM
MENDELIAN
More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3
Bardet-Biedl syndrome is an autosomal recessive and genetically heterogeneous ciliopathy characterized by retinitis pigmentosa, obesity, kidney dysfunction, polydactyly, behavioral dysfunction, and hypogonadism (summary by Beales et al., 1999). Eight proteins implicated in the disorder assemble to form the BBSome, a stable complex involved in signaling receptor trafficking to and from cilia (summary by Scheidecker et al., 2014). Genetic Heterogeneity of Bardet-Biedl SyndromeBBS1 is caused by mutation in a gene on chromosome 11q13 (OMIM ); BBS2 (OMIM ), by mutation in a gene on 16q13 (OMIM ); BBS3 (OMIM ), by mutation in the ARL6 gene on 3q11 (OMIM ); BBS4 (OMIM ), by mutation in a gene on 15q22 (OMIM ); BBS5 (OMIM ), by mutation in a gene on 2q31 (OMIM ); BBS6 (OMIM ), by the MKKS gene on 20p12 (OMIM ), mutations in which also cause McKusick-Kaufman syndrome (OMIM ); BBS7 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS8 (OMIM ), by mutation in the TTC8 gene on 14q32 (OMIM ); BBS9 (OMIM ), by mutation in a gene on 7p14 (OMIM ); BBS10 (OMIM ), by mutation in a gene on 12q (OMIM ); BBS11 (OMIM ), by mutation in the TRIM32 gene on 9q33 (OMIM ); BBS12 (OMIM ), by mutation in a gene on 4q27 (OMIM ); BBS13 (OMIM ), by mutation in the MKS1 gene (OMIM ) on 17q23, mutations in which also cause Meckel syndrome-1 (OMIM ); BBS14 (OMIM ), by mutation in the CEP290 gene (OMIM ) on 12q21, mutations in which also cause Meckel syndrome-4 (OMIM ) and several other disorders; BBS15 (OMIM ), by mutation in the C2ORF86 gene (OMIM ), which encodes a homolog of the Drosophila planar cell polarity gene 'fritz,' on 2p15; BBS16 (OMIM ), by mutation in the SDCCAG8 gene (OMIM ) on 1q43, mutations in which also cause Senior-Loken syndrome-7 (OMIM ); BBS17 (OMIM ), by mutation in the LZTFL1 gene (OMIM ) on 3p21; BBS18 (OMIM ), by mutation in the BBIP1 gene (OMIM ) on 10q25; BBS19 (OMIM ), by mutation in the IFT27 gene (OMIM ) on 22q12; BBS20 (OMIM ), by mutation in the IFT74 gene (OMIM ) on 9p21; and BBS21 (OMIM ), by mutation in the C8ORF37 gene (OMIM ).The CCDC28B gene (OMIM ) modifies the expression of BBS phenotypes in patients who have mutations in other genes. Mutations in MKS1, MKS3 (TMEM67 ), and C2ORF86 also modify the expression of BBS phenotypes in patients who have mutations in other genes.Although BBS had originally been thought to be a recessive disorder, Katsanis et al. (2001) demonstrated that clinical manifestation of some forms of Bardet-Biedl syndrome requires recessive mutations in 1 of the 6 loci plus an additional mutation in a second locus. While Katsanis et al. (2001) called this 'triallelic inheritance,' Burghes et al. (2001) suggested the term 'recessive inheritance with a modifier of penetrance.' Mykytyn et al. (2002) found no evidence of involvement of the common BBS1 mutation in triallelic inheritance. However, Fan et al. (2004) found heterozygosity in a mutation of the BBS3 gene ({608845.0002}) as an apparent modifier of the expression of homozygosity of the met390-to-arg mutation in the BBS1 gene ({209901.0001}).Allelic disorders include nonsyndromic forms of retinitis pigmentosa: RP51 (OMIM ), caused by TTC8 mutation, and RP55 (OMIM ), caused by ARL6 mutation.
Related symptoms:
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Ataxia
- Nystagmus
SOURCES:
OMIM
MENDELIAN
More info about BARDET-BIEDL SYNDROME 1; BBS1
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Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.
AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo
Related symptoms:
- Intellectual disability
- Seizures
- Generalized hypotonia
- Hearing impairment
- Ataxia
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA
Glutaric aciduria II (GA2) is an autosomal recessively inherited disorder of fatty acid, amino acid, and choline metabolism. It differs from GA I (GA1 ) in that multiple acyl-CoA dehydrogenase deficiencies result in large excretion not only of glutaric acid, but also of lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. GA II results from deficiency of any 1 of 3 molecules: the alpha (ETFA) and beta (ETFB) subunits of electron transfer flavoprotein, and electron transfer flavoprotein dehydrogenase (ETFDH). The clinical picture of GA II due to the different defects appears to be indistinguishable; each defect can lead to a range of mild or severe cases, depending presumably on the location and nature of the intragenic lesion, i.e., mutation, in each case (Goodman, 1993; Olsen et al., 2003).The heterogeneous clinical features of patients with MADD fall into 3 classes: a neonatal-onset form with congenital anomalies (type I), a neonatal-onset form without congenital anomalies (type II), and a late-onset form (type III). The neonatal-onset forms are usually fatal and are characterized by severe nonketotic hypoglycemia, metabolic acidosis, multisystem involvement, and excretion of large amounts of fatty acid- and amino acid-derived metabolites. Symptoms and age at presentation of late-onset MADD are highly variable and characterized by recurrent episodes of lethargy, vomiting, hypoglycemia, metabolic acidosis, and hepatomegaly often preceded by metabolic stress. Muscle involvement in the form of pain, weakness, and lipid storage myopathy also occurs. The organic aciduria in patients with the late-onset form of MADD is often intermittent and only evident during periods of illness or catabolic stress (summary by Frerman and Goodman, 2001).Importantly, riboflavin treatment has been shown to ameliorate the symptoms and metabolic profiles in many MADD patients, particularly those with type III, the late-onset and mildest form (Liang et al., 2009).
MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD Is also known as ema|ethylmalonic-adipicaciduria|glutaric aciduria ii|ga ii|glutaric acidemia ii|ga2
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Generalized hypotonia
- Ataxia
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD
Vici syndrome is a very rare and severe congenital multisystem disorder characterized by the principal features of agenesis of the corpus callosum, cataracts, oculocutaneous hypopigmentation, cardiomyopathy and combined immunodeficiency.
VICI SYNDROME Is also known as immunodeficiency with cleft lip/palate, cataract, hypopigmentation, and absent corpus callosum|corpus callosum agenesis-cataract-immunodeficiency syndrome|dionisi-vici-sabetta-gambarara syndrome
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Generalized hypotonia
SOURCES:
MESH
OMIM
ORPHANET
MENDELIAN
More info about VICI SYNDROME
The thrombocytopenia-absent radius syndrome (TAR) is characterized by reduction in the number of platelets and absence of the radius; preservation of the thumb distinguishes TAR from other syndromes that combine blood abnormalities with absence of the radius, such as Fanconi anemia (see {227650}). Individuals with TAR have low numbers of megakaryocytes, platelet precursor cells that reside in bone marrow, and frequently present with bleeding episodes in the first year of life that diminish in frequency and severity with age. The severity of skeletal anomalies varies from absence of radii to virtual absence of upper limbs, with or without lower limb defects such as malformations of the hip and knee (summary by Albers et al., 2012).
THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR Is also known as tar syndrome|chromosome 1q21.1 deletion syndrome, 200-kb
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
SOURCES:
ORPHANET
OMIM
MENDELIAN
More info about THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR
Noonan syndrome (NS) is an autosomal dominant disorder characterized by short stature, facial dysmorphism, and a wide spectrum of congenital heart defects. The distinctive facial features consist of a broad forehead, hypertelorism, downslanting palpebral fissures, a high-arched palate, and low-set, posteriorly rotated ears. Cardiac involvement is present in up to 90% of patients. Pulmonic stenosis and hypertrophic cardiomyopathy are the most common forms of cardiac disease, but a variety of other lesions are also observed. Additional relatively frequent features include multiple skeletal defects (chest and spine deformities), webbed neck, mental retardation, cryptorchidism, and bleeding diathesis (summary by Tartaglia et al., 2002). Genetic Heterogeneity of Noonan SyndromeSee also NS3 (OMIM ), caused by mutation in the KRAS gene (OMIM ); NS4 (OMIM ), caused by mutation in the SOS1 gene (OMIM ); NS5 (OMIM ), caused by mutation in the RAF1 gene (OMIM ); NS6 (OMIM ), caused by mutation in the NRAS gene (OMIM ); NS7 (OMIM ), caused by mutation in the BRAF gene (OMIM ); NS8 (OMIM ), caused by mutation in the RIT1 gene (OMIM ); NS9 (OMIM ), caused by mutation in the SOS2 gene (OMIM ); and NS10 (OMIM ), caused by mutation in the LZTR1 gene (OMIM ).See also NS2 (OMIM ) for a possible autosomal recessive form of NS; Noonan syndrome-like disorder with loose anagen hair-1 (NSLH1 ), caused by mutation in the SHOC2 gene (OMIM ); Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2 ), caused by mutation in the PPP1CB gene (OMIM ); and Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia (NSLL ), caused by mutation in the CBL gene (OMIM ).Mutations in the neurofibromin gene (NF1 ), which is the site of mutations causing classic neurofibromatosis type I (NF1 ), have been found in neurofibromatosis-Noonan syndrome (NFNS ).
NOONAN SYNDROME 1; NS1 Is also known as female pseudo-turner syndrome|male turner syndrome|noonan syndrome|turner phenotype with normal karyotype
Related symptoms:
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Microcephaly
SOURCES:
OMIM
MENDELIAN
More info about NOONAN SYNDROME 1; NS1
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
Hutchinson-Gilford progeria syndrome is a rare, fatal, autosomal dominant and premature aging disease, beginning in childhood and characterized by growth reduction, failure to thrive, a typical facial appearance (prominent forehead, protuberant eyes, thin nose with a beaked tip, thin lips, micrognathia and protruding ears) and distinct dermatologic features (generalized alopecia, aged-looking skin, sclerotic and dimpled skin over the abdomen and extremities, prominent cutaneous vasculature, dyspigmentation, nail hypoplasia and loss of subcutaneous fat).
HUTCHINSON-GILFORD PROGERIA SYNDROME Is also known as progeria|hgps
Related symptoms:
- Intellectual disability
- Short stature
- Hearing impairment
- Scoliosis
- Growth delay
SOURCES:
OMIM
ORPHANET
MENDELIAN
More info about HUTCHINSON-GILFORD PROGERIA SYNDROME
Top 5 symptoms//phenotypes associated to Cataract and Left ventricular hypertrophy
Symptoms // Phenotype |
% cases |
Intellectual disability |
Common - Between 50% and 80% cases
|
Global developmental delay |
Common - Between 50% and 80% cases
|
Sensorineural hearing impairment |
Common - Between 50% and 80% cases
|
Hearing impairment |
Common - Between 50% and 80% cases
|
Seizures |
Common - Between 50% and 80% cases
|
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Other less frequent symptoms
Patients with Cataract and Left ventricular hypertrophy. may also develop some of the following symptoms:
Common Symptoms - More than 50% cases
Ventricular hypertrophy
Uncommon Symptoms - Between 30% and 50% cases
Cardiomyopathy
Common Symptoms - More than 50% cases
Short stature
Uncommon Symptoms - Between 30% and 50% cases
Congestive heart failure
Hypertrophic cardiomyopathy
Hypogonadism
Ptosis
Pain
Edema
Respiratory insufficiency
Depressivity
Abnormal facial shape
Muscle cramps
Ataxia
Depressed nasal bridge
Dilatation
Cognitive impairment
Arrhythmia
Amenorrhea
Generalized hypotonia
Peripheral neuropathy
Failure to thrive
Dilated cardiomyopathy
Exercise intolerance
Myalgia
Elevated serum creatine phosphokinase
Feeding difficulties
Motor delay
Fatigue
Micrognathia
Strabismus
Myopathy
Severe global developmental delay
Muscle weakness
Proximal muscle weakness
Hypothyroidism
Limb muscle weakness
Diabetes mellitus
Myopia
Nystagmus
Fever
High, narrow palate
Increased serum lactate
Headache
Dyspnea
Ragged-red muscle fibers
Abnormality of the kidney
Premature ovarian insufficiency
Rod-cone dystrophy
Macrocephaly
Growth delay
Hypertension
High palate
Vomiting
Primary amenorrhea
Visual impairment
Congenital cataract
Cerebellar hypoplasia
Acidosis
Dysphagia
Gait disturbance
Tremor
Skeletal muscle atrophy
Dysarthria
Hyporeflexia
Abnormality of the cerebral white matter
Respiratory distress
Constipation
Easy fatigability
Rare Symptoms - Less than 30% cases
Hepatic steatosis
Rhabdomyolysis
Pulmonary hypoplasia
Gait ataxia
Nausea
Cardiomegaly
Hypertonia
Heterotopia
Anorexia
Decreased liver function
Osteoporosis
Abdominal pain
Hemiplegia
Glycosuria
Cerebellar atrophy
Cardiorespiratory arrest
Nausea and vomiting
Respiratory failure
Gastroesophageal reflux
Palpitations
Exertional dyspnea
Difficulty climbing stairs
Ketosis
Reduced ejection fraction
Muscular hypotonia
Spasticity
Ventricular arrhythmia
Hypergonadotropic hypogonadism
Atrial fibrillation
Elevated hepatic transaminase
Diarrhea
Coma
Lactic acidosis
Behavioral abnormality
Lethargy
Gonadal dysgenesis
Abnormality of the liver
Anxiety
Arthralgia
Neoplasm
Cleft lip
Chronic fatigue
Atrial septal defect
Abnormality of the cardiovascular system
Chest pain
Delayed puberty
Stroke
Carcinoma
Proptosis
Sparse hair
Hypotrichosis
Scoliosis
Anemia
Abnormality of the skeletal system
Ventricular septal defect
Malar flattening
Renal tubular dysfunction
Thrombocytopenia
Abnormal heart morphology
Midface retrusion
Abnormal cardiac septum morphology
Leukemia
Hip dislocation
Coarctation of aorta
Coxa valga
Intracranial hemorrhage
Restrictive cardiomyopathy
Lymphedema
Amegakaryocytic thrombocytopenia
Myocardial infarction
Hypohidrosis
Abnormality of the renal tubule
Coarse facial features
Angina pectoris
Transient ischemic attack
Microcephaly
Hypertelorism
Cleft palate
Low-set ears
Epicanthus
Abnormal EKG
Optic atrophy
Anteverted nares
Pneumonia
Agenesis of corpus callosum
Abdominal distention
Aminoaciduria
Postnatal growth retardation
Joint stiffness
Thick vermilion border
Triangular face
Sepsis
Cerebellar vermis hypoplasia
Decreased body weight
Heart murmur
Aspiration
Adducted thumb
Poor suck
Renal tubular acidosis
Hyperlipidemia
Decreased antibody level in blood
Respiratory tract infection
Nephrogenic diabetes insipidus
Mitochondrial myopathy
Dysphonia
Ophthalmoparesis
Ventricular fibrillation
Sensory axonal neuropathy
Coronary artery atherosclerosis
Resting tremor
Bipolar affective disorder
Progressive external ophthalmoplegia
Cytochrome C oxidase-negative muscle fibers
EMG: myopathic abnormalities
Multiple mitochondrial DNA deletions
Subsarcolemmal accumulations of abnormally shaped mitochondria
Cryptorchidism
Brachydactyly
Renal insufficiency
Glaucoma
Retinopathy
Pulmonic stenosis
Stage 5 chronic kidney disease
Mutism
Progressive hearing impairment
Pigmentary retinopathy
Rigidity
Ventriculomegaly
Coloboma
Corneal opacity
Pachygyria
Hypoplasia of the pons
Areflexia
Dementia
Cerebral cortical atrophy
Ophthalmoplegia
External ophthalmoplegia
Paresthesia
Sensory neuropathy
Generalized muscle weakness
Parkinsonism
Gliosis
Migraine
Bradykinesia
Progressive muscle weakness
Bradycardia
Hypodontia
Posteriorly rotated ears
Radial deviation of finger
Clubbing
Abnormality of the genital system
Bicuspid aortic valve
Tricuspid regurgitation
Dental crowding
Carious teeth
Bulbous nose
Thick eyebrow
Hematuria
Nephropathy
Nasal speech
Dermal atrophy
Sudden cardiac death
Syncope
Urinary incontinence
Hypotension
Lipodystrophy
Mitral valve prolapse
Nephrotic syndrome
Tachycardia
Malabsorption
Vertigo
Abnormality of the nervous system
Mitral valve calcification
Parietal bossing
Widely patent fontanelles and sutures
Intermittent claudication
Corneal arcus
Arthritis
Proteinuria
Developmental regression
Aortic valve stenosis
Skin rash
Relative macrocephaly
Cough
Prominent nasal bridge
Papule
Pruritus
Sinus tachycardia
Thick lower lip vermilion
Subcutaneous nodule
Mitral regurgitation
Polydipsia
Atrioventricular block
Chronic kidney disease
Prominent supraorbital ridges
Abnormality of the hand
Glomerulosclerosis
Premature coronary artery atherosclerosis
Personality changes
Decreased testosterone in males
Premature graying of hair
Thin nail
Impaired vibratory sensation
Diabetes insipidus
Prolonged QT interval
Polyuria
Anhidrosis
High pitched voice
Tinnitus
Hyperinsulinemia
Abnormality of the thorax
Abnormal lung morphology
Bird-like facies
Metaphyseal widening
Fasciculations
Abnormal autonomic nervous system physiology
Spontaneous abortion
Purpura
Reduced bone mineral density
Sparse and thin eyebrow
Multiple joint contractures
Ventricular tachycardia
Aortic regurgitation
Abnormal intestine morphology
Corneal dystrophy
Ischemic stroke
Mandibular prognathia
Prominent scalp veins
Hyperkeratosis
Patent foramen ovale
Plagiocephaly
Azoospermia
Arnold-Chiari malformation
Pterygium
Elevated alkaline phosphatase
Failure to thrive in infancy
Myelodysplasia
Amblyopia
Cubitus valgus
Abnormality of the coagulation cascade
Leukocytosis
Abnormality of color vision
Neurofibromas
Cystic hygroma
Male infertility
Insulin-resistant diabetes mellitus at puberty
Abnormal trabecular bone morphology
Neuroblastoma
Facial asymmetry
Increased bone mineral density
Polyhydramnios
Kyphoscoliosis
Low-set, posteriorly rotated ears
Arteriosclerosis of small cerebral arteries
Broad forehead
Regional abnormality of skin
Bruising susceptibility
Clumsiness
Osteolysis
Atherosclerosis
Abnormal bleeding
Dental malocclusion
Webbed neck
Wide intermamillary distance
Low posterior hairline
Abnormality of the vertebral column
Abnormality of blood and blood-forming tissues
Emphysema
Acanthosis nigricans
Loose anagen hair
Pectus excavatum of inferior sternum
Bilateral coxa valga
Gonadal neoplasm
Reduced factor XIII activity
Nasogastric tube feeding
Craniofacial disproportion
Panuveitis
Preductal coarctation of the aorta
Old-aged sensorineural hearing impairment
Postductal coarctation of the aorta
Reticulated skin pigmentation
Hyperhidrosis
Hypoplastic facial bones
Hypercholesterolemia
Juvenile myelomonocytic leukemia
Neurofibrosarcoma
Arnold-Chiari type I malformation
Schwannoma
Malignant hyperthermia
Drusen
Nonimmune hydrops fetalis
Atrial flutter
Absence of pubertal development
Shield chest
Synovitis
Multiple lentigines
Narrow nasal tip
Asymmetry of the thorax
Optic disc hypoplasia
Carotid artery stenosis
Lymphangioma
Hypoplastic aortic arch
Superior pectus carinatum
Reduced factor XII activity
Absence of subcutaneous fat
Bundle branch block
Insulin resistance
Functional abnormality of the gastrointestinal tract
Enlarged joints
Concentric hypertrophic cardiomyopathy
Hypoplastic nipples
Mucosal telangiectasiae
Unexplained fevers
ST segment depression
Impaired renal concentrating ability
Thin bony cortex
Precocious atherosclerosis
Aplasia/Hypoplasia of the earlobes
Small face
Abnormality of glycosphingolipid metabolism
Thin vermilion border
Generalized osteoporosis
Abnormality of the forehead
Coronary artery stenosis
Shortened PR interval
Infertility
Distal renal tubular acidosis
Decreased serum estradiol
Limb pain
Abnormality of temperature regulation
Delayed eruption of teeth
Decreased glomerular filtration rate
Vascular tortuosity
Increased blood urea nitrogen
Decreased lacrimation
Reduced sperm motility
Angiokeratoma
Obstructive lung disease
Impaired temperature sensation
Hyposthenuria
Shortened QT interval
Angiokeratoma corporis diffusum
Hyperkeratotic papule
Tortuosity of conjunctival vessels
Retinal vascular tortuosity
Short nose
Abnormality of the common coagulation pathway
Abnormal glomerular filtration rate
Cornea verticillata
Flexion contracture
Abnormality of the dentition
Kyphosis
Alopecia
Short clavicles
Prominent forehead
Narrow mouth
Macrotia
Osteopenia
Conductive hearing impairment
Microtia
Narrow chest
Increased glomerular filtration rate
Alopecia of scalp
Left ventricular septal hypertrophy
Osteolytic defects of the phalanges of the hand
Tenesmus
Heavy proteinuria
Lack of skin elasticity
Acroparesthesia
Prominent superficial veins
Abnormal common carotid artery morphology
Abnormal ST segment
Thrombocytosis
Ovoid vertebral bodies
Hyperphosphatemia
Down-sloping shoulders
Fragile nails
Absent eyelashes
Increased carotid artery intimal medial thickness
Renal cell carcinoma
Corneal crystals
Vascular skin abnormality
Broad-based gait
Thin ribs
Hypertriglyceridemia
Cyanosis
Hypogonadotrophic hypogonadism
Scleroderma
Arteriosclerosis
Convex nasal ridge
Carcinoid tumor
Abnormality of lipid metabolism
Xerostomia
Prolonged prothrombin time
Edema of the lower limbs
Tubulointerstitial nephritis
Elevated serum creatinine
Tubular atrophy
Abnormality of the gastrointestinal tract
Osteoarthritis
Aortic root aneurysm
Large earlobe
Progressive sensorineural hearing impairment
Loss of consciousness
Hypermetropia
Impotence
Lipoatrophy
Elevated erythrocyte sedimentation rate
Interstitial pulmonary abnormality
Thin skin
Wheezing
Orthostatic hypotension
Celiac disease
Telangiectasia of the skin
Hip pain
Glomerulopathy
Aplastic clavicle
Abnormal heart valve morphology
Oligospermia
Supraventricular tachycardia
Decreased female libido
Supraventricular arrhythmia
Chronic pain
Tubulointerstitial fibrosis
Abnormal thrombosis
Growth hormone deficiency
Abnormal cornea morphology
Dysesthesia
Conjunctival telangiectasia
Miosis
Microalbuminuria
Primary hypothyroidism
Limitation of joint mobility
Biventricular hypertrophy
Abnormal endocardium morphology
Keratoconjunctivitis sicca
Abnormality of cardiovascular system physiology
Abnormal renal physiology
T-wave inversion
Heat intolerance
Myocardial fibrosis
Peripheral arterial stenosis
Clubbing of fingers
Nail dysplasia
Chronic obstructive pulmonary disease
Achalasia
Sinus bradycardia
Abnormality of femur morphology
Abnormal aortic valve morphology
Abnormality of the nose
Abnormal myocardium morphology
High-frequency hearing impairment
Asymmetric septal hypertrophy
Abnormal mitral valve morphology
Periorbital fullness
Gastrointestinal dysmotility
Narrow nasal ridge
Pontocerebellar atrophy
Patent ductus arteriosus
Jaundice
Progressive ophthalmoplegia
Quadriceps muscle weakness
Focal white matter lesions
Hepatomegaly
Encephalopathy
Weight loss
High forehead
Difficulty walking
Impaired distal proprioception
Hypoglycemia
Telecanthus
Hyperlordosis
Abnormality of the pinna
Joint hyperflexibility
Metabolic acidosis
Renal cyst
Acute rhabdomyolysis
Nocturia
Aciduria
Shoulder girdle muscle weakness
Increased variability in muscle fiber diameter
Glucose intolerance
Hypokinesia
Secondary amenorrhea
Hyperthyroidism
Facial diplegia
Hypomimic face
Absent Achilles reflex
Impaired distal vibration sensation
Skeletal myopathy
Abnormality of the mitochondrion
Testicular atrophy
Parkinsonism with favorable response to dopaminergic medication
Cogwheel rigidity
Gastroparesis
Muscle fiber necrosis
Tetraplegia
Waddling gait
Goiter
Episodic vomiting
Ketonuria
Excessive daytime somnolence
Organic aciduria
Hypoketotic hypoglycemia
Exercise-induced myalgia
Medulloblastoma
Proximal tubulopathy
Abnormal corpus callosum morphology
Myoglobinuria
Loss of ability to walk
Acute pancreatitis
Respiratory arrest
Generalized aminoaciduria
Oliguria
Glutaric aciduria
Progressive spastic quadriplegia
Progressive proximal muscle weakness
Drowsiness
Tetraparesis
Pancreatitis
Renal dysplasia
Wide anterior fontanel
Leukodystrophy
Clonus
Cardiac arrest
Type I diabetes mellitus
Scapular winging
Spastic tetraparesis
Fatigable weakness
Hyperammonemia
Poor head control
Slurred speech
Polycystic kidney dysplasia
Back pain
Stridor
Restrictive ventilatory defect
Acute kidney injury
Abnormality of mitochondrial metabolism
Sensorimotor neuropathy
Hypoglycemic coma
Insomnia
Brain atrophy
Memory impairment
Status epilepticus
Diplopia
Bilateral ptosis
Apathy
Abnormality of the thyroid gland
Limb-girdle muscle weakness
Cerebral atrophy
Sensory ataxia
Delayed speech and language development
Syndactyly
Obesity
Polydactyly
Micropenis
Reduced visual acuity
Lower limb muscle weakness
Severe hydrocephalus
Paraplegia
Intellectual disability, profound
Hydrocephalus
Microphthalmia
Muscular dystrophy
Abnormality of skin pigmentation
Retinal detachment
Dandy-Walker malformation
High myopia
Severe muscular hypotonia
Agyria
Lissencephaly
Congenital muscular dystrophy
Hypoplasia of the brainstem
Aqueductal stenosis
Cerebellar dysplasia
Type II lissencephaly
Cerebellar cyst
Neurological speech impairment
Astigmatism
Cerebral visual impairment
Biliary tract abnormality
Undetectable electroretinogram
Gait imbalance
Abnormality of the ovary
Vaginal atresia
Menstrual irregularities
Tapetoretinal degeneration
Microphallus
Hydrometrocolpos
Poor coordination
Septate vagina
Pes cavus
Facial palsy
Abnormality of eye movement
Peripheral axonal neuropathy
Abnormality of extrapyramidal motor function
Frequent falls
Broad foot
Foot polydactyly
Retinal degeneration
Specific learning disability
Hirsutism
Iris coloboma
Postaxial polydactyly
Retinal dystrophy
Short foot
Asthma
Decreased testicular size
Postaxial hand polydactyly
Nephronophthisis
Aganglionic megacolon
Hepatic fibrosis
Situs inversus totalis
Anosmia
Hypoplasia of the uterus
Macular dystrophy
External genital hypoplasia
Truncal obesity
Personality disorder
Nonketotic hypoglycemia
Clinodactyly
Hemangioma
Focal-onset seizure
Tetralogy of Fallot
Blue sclerae
Broad thumb
Short phalanx of finger
Spina bifida
Horseshoe kidney
Eosinophilia
Finger syndactyly
Genu varum
Hypoplasia of the radius
Focal impaired awareness seizure
Absent radius
Megalocornea
Nevus flammeus
Carpal synostosis
Intestinal malrotation
Hepatosplenomegaly
Chromosome breakage
Ureteral atresia
Abnormal macular morphology
Schizencephaly
Frontoparietal polymicrogyria
Abnormal immunoglobulin level
Cutaneous anergy
Decreased T cell activation
Aplasia/Hypoplasia of the macula
Immunoglobulin IgG2 deficiency
Brachycephaly
Penile hypospadias
Severe T-cell immunodeficiency
White matter neuronal heterotopia
Acute bronchitis
Talipes equinovarus
Intellectual disability, severe
Clinodactyly of the 5th finger
Patellar dislocation
Duodenal atresia
Abnormality of the cerebellar vermis
Axial malrotation of the kidney
Aplasia/hypoplasia of the humerus
Nevus flammeus of the forehead
Tibial torsion
Edema of the dorsum of feet
Lactose intolerance
Tetraphocomelia
Shoulder muscle hypoplasia
Cow milk allergy
Intermittent thrombocytopenia
Downslanted palpebral fissures
Short neck
Intellectual disability, mild
Splenomegaly
Abnormality of cardiovascular system morphology
Hernia
Pectus excavatum
Edema of the dorsum of hands
Renal malrotation
Aplastic anemia
Pancreatic cysts
Delayed CNS myelination
Allergy
Patellar aplasia
Seborrheic dermatitis
Fused cervical vertebrae
Aplasia of the uterus
Cavum septum pellucidum
Fibular aplasia
Bilateral radial aplasia
Carpal bone hypoplasia
Phocomelia
Lateral clavicle hook
Generalized tonic-clonic seizures with focal onset
Cervical ribs
Aplasia/Hypoplasia of the ulna
Abnormality of the shoulder
Meckel diverticulum
Muscle flaccidity
Abnormality of the thymus
Impaired mastication
Muscular hypotonia of the trunk
Hyperreflexia
Long philtrum
Immunodeficiency
Recurrent infections
Hypospadias
Recurrent respiratory infections
EEG abnormality
Feeding difficulties in infancy
Electron transfer flavoprotein-ubiquinone oxidoreductase defect
Cleft upper lip
Polymicrogyria
Wide nose
Sleep disturbance
Neutropenia
Hypopigmentation of the skin
Delayed myelination
Abnormality of blood glucose concentration
Hepatic periportal necrosis
Hypotelorism
Increased muscle lipid content
Limb tremor
Renal cortical cysts
Cataplexy
Narcolepsy
Gastrointestinal inflammation
Arthralgia of the hip
Glutaric acidemia
Ketotic hypoglycemia
Defective dehydrogenation of isovaleryl CoA and butyryl CoA
Elevated plasma acylcarnitine levels
Reduced protein C activity
Reye syndrome-like episodes
Ethylmalonic aciduria
Hypersarcosinemia
Fatigable weakness of distal limb muscles
Fatigable weakness of neck muscles
Abnormality of branched chain family amino acid metabolism
Narrow forehead
Progressive neurologic deterioration
Abnormality of the optic disc
Hypoplasia of the thymus
Severe failure to thrive
Depressed nasal tip
Ocular albinism
Fair hair
Chronic mucocutaneous candidiasis
Abnormal cortical gyration
Recurrent viral infections
Cellular immunodeficiency
IgG deficiency
Hypopigmentation of the fundus
Recurrent fungal infections
Abnormal posturing
Granulocytopenia
Abnormality of the mandible
Decreased proportion of CD4-positive T cells
Recurrent aspiration pneumonia
Aspiration pneumonia
Severe sensorineural hearing impairment
Open mouth
Infantile muscular hypotonia
Abnormality of retinal pigmentation
Progressive microcephaly
Lymphopenia
Increased body weight
Recurrent bacterial infections
Leukopenia
Aplasia/Hypoplasia of the corpus callosum
Congenital sensorineural hearing impairment
Hypopigmentation of hair
Albinism
Combined immunodeficiency
Neurodevelopmental delay
Macular atrophy
Bronchitis
Centrally nucleated skeletal muscle fibers
Abnormality of immune system physiology
Optic neuropathy
Tapering pointed ends of distal finger phalanges
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