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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Low match MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 5; MDDGA5


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

Low match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


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

Low match BARDET-BIEDL SYNDROME 1; BBS1


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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Low match AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


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

Low match MULTIPLE ACYL-COA DEHYDROGENASE DEFICIENCY; MADD


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

Low match VICI SYNDROME


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

Low match THROMBOCYTOPENIA-ABSENT RADIUS SYNDROME; TAR


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

Low match NOONAN SYNDROME 1; NS1


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

Low match FABRY DISEASE


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

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

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about FABRY DISEASE

Low match HUTCHINSON-GILFORD PROGERIA SYNDROME


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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