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Gene: Pax3 MGI:97487

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
paired box 3
Synonyms:
Pax-3,  Splchl2

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pax3 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

The table below shows human diseases predicted to be associated to Pax3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Albinism-Microcephaly-Digital Anomalies Syndrome
Albinism OMIM:203340
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 1
Vitiligo OMIM:606579
Neural Tube Defects, Folate-Sensitive
Spinal dysraphism OMIM:601634
Cafe-Au-Lait Spots, Multiple
Multiple cafe-au-lait spots OMIM:114030
Lentiginosis, Inherited Patterned
Hypermelanotic macule OMIM:151001
Hairy Palms And Soles
Hypermelanotic macule OMIM:139650
Dowling-Degos Disease 1
Progressive reticulate hyperpigmentation OMIM:179850
Neurofibromatosis Type 6
Freckling, Multiple cafe-au-lait spots ORPHA:2678
Acroleukopathy, Symmetric
Symmetric great toe depigmentation OMIM:102000
Hyperpigmentation, Familial Progressive, 1
Hyperpigmentation of the skin OMIM:614233
Nasal Hyperpigmentation, Familial Transverse
Hyperpigmentation of the skin OMIM:161530
Hyperpigmentation Of Fuldauer And Kuijpers
Hyperpigmentation of the skin OMIM:145200
Griscelli Syndrome, Type 3
Silver-gray hair, White eyelashes, Large clumps of pigment irregularly distributed along hair shaft OMIM:609227
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Cafe-au-lait spot, Multiple lentigines, Hypopigmented skin patches, Progressive hyperpigmentation... OMIM:145250
Albinism-Deafness Syndrome
Albinism, Partial albinism, Patchy hypo- and hyperpigmentation, Piebaldism OMIM:300700
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
Anencephaly 1
Spina bifida, Anencephaly OMIM:206500
Ringed Hair
Abnormal hair morphology OMIM:180600
Hairy Nose Tip
Abnormal hair morphology OMIM:139630
Discoid Fibromas, Familial Multiple
Abnormal hair morphology OMIM:190340
Griscelli Syndrome, Type 1
Hypopigmentation of the skin, White eyelashes, Accumulation of melanosomes in melanocytes, White ... OMIM:214450
Tietz Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Abnormality of skin pigmentation, White e... ORPHA:42665
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Albinism-Deafness Syndrome
Irregular hyperpigmentation, Piebaldism, Hypopigmented skin patches, Heterochromia iridis, Partia... ORPHA:998
Albinism, Oculocutaneous, Type Iii
Albinism, Red hair, Partial albinism OMIM:203290
Nevus, Epidermal
Melanocytic nevus OMIM:162900
Ermine Phenotype
Albinism, White eyelashes, White eyebrow, Spotty hyperpigmentation, White hair, Vitiligo OMIM:227010
Dilution, Pigmentary
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair OMIM:126070
Dowling-Degos Disease 3
Hyperpigmented/hypopigmented macules OMIM:615674
Dyschromatosis Universalis Hereditaria 1
Hyperpigmented/hypopigmented macules OMIM:127500
Dyschromatosis Symmetrica Hereditaria
Hyperpigmented/hypopigmented macules OMIM:127400
Mediosternal Depigmentation Line
Mediosternal, longitudinal streak of hypopigmentation OMIM:155200
Griscelli Syndrome Type 3
Hypopigmentation of hair, Iris hypopigmentation, Partial albinism ORPHA:79478
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Book Syndrome
Premature graying of hair OMIM:112300
Dyschromatosis Universalis Hereditaria
Spotty hypopigmentation, Hypopigmented skin patches, Freckling, Multiple cafe-au-lait spots, Hype... ORPHA:241
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Type II lissencephaly, Cerebellar dysplasia, Neural tube defect OMIM:615041
Waardenburg Syndrome, Type 2F
Hypopigmentation of the skin, Cafe-au-lait spot, Premature graying of hair, White forelock, Heter... OMIM:619947
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Sparse body hair, Alopecia, Hypopigmentation of the skin, Dystrophic toenail, Alopecia of scalp, ... OMIM:617294
Albinism, Oculocutaneous, Type Ib
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:606952
Piebald Trait
Absent pigmentation of the ventral chest, Piebaldism, White forelock, Heterochromia iridis, Parti... OMIM:172800
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Melanocytic nevus, Hypopigmented skin patches ORPHA:2435
Uncombable Hair Syndrome
Trichodysplasia, Woolly hair, White hair, Patchy alopecia, Coarse hair, Abnormal hair morphology ORPHA:1410
Waardenburg Syndrome, Type 2B
White forelock, Heterochromia iridis, Premature graying of hair OMIM:600193
Pseudopili Annulati
Abnormality of hair texture, Abnormality of the scalp hair OMIM:613241
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Deafness, Autosomal Recessive 109
Morphological abnormality of the semicircular canal, Congenital sensorineural hearing impairment OMIM:618013
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Griscelli Syndrome, Type 2
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:607624
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Tietz Albinism-Deafness Syndrome
Generalized hypopigmentation, White eyelashes, White eyebrow, Heterochromia iridis, Blue irides OMIM:103500
Atrial Fibrillation, Familial, 10
Permanent atrial fibrillation, Tricuspid regurgitation, Right ventricular dilatation, Left ventri... OMIM:614022
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hyperpigmentation of the skin, Hypopigmented skin patches ORPHA:2819
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Hypopigmentation of the skin, Iris transillumination defect OMIM:619165
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Presyncope, Premature ventricular contraction, Ventricular tachycardia, Palpitations, Left bundle... OMIM:618920
Familial Dilated Cardiomyopathy
Elevated pulmonary artery pressure, Reduced left ventricular ejection fraction, Ventricular arrhy... ORPHA:217607
Coronary Arterial Fistula
Systolic heart murmur, Angina pectoris, Abnormal left ventricular function, Palpitations, Patent ... ORPHA:2041
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Ventricular septal defect, Truncus arteriosus OMIM:601355
Familial Papillary Or Follicular Thyroid Carcinoma
Abnormal lymph node morphology, Nodular goiter, Abnormal neck blood vessel morphology, Spinal cor... ORPHA:319487
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Albinism, Oculocutaneous, Type Vi
Fair hair, Generalized hypopigmentation OMIM:113750
Piebaldism
Piebaldism, Synophrys, White eyelashes, White eyebrow, Hypopigmented skin patches, White forelock... ORPHA:2884
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Atrial Septal Defect, Sinus Venosus Type
Systolic heart murmur, Supraventricular arrhythmia, Premature atrial contractions, Palpitations, ... ORPHA:99105
Idiopathic/Heritable Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Heart murmur, Elevated jugular venous pressure, Syncope, Palpita... ORPHA:422
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Anencephaly, Hypoplastic left heart, Ventricular septal defect ORPHA:2476
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Cardiomyopathy, Familial Hypertrophic, 4
Sudden cardiac death, Ventricular hypertrophy, Myofiber disarray, Pericardial effusion, Cardiac a... OMIM:115197
Waardenburg Syndrome, Type 4B
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:613265
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Mottled pigmentation, Alopecia, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigment... ORPHA:79397
Frontal Encephalocele
Spina bifida, Hydrocephalus, Encephalocele ORPHA:1931
Waardenburg Syndrome, Type 2A
Premature graying of hair, Albinism, Synophrys, White eyelashes, White eyebrow, Numerous pigmente... OMIM:193510
Elejalde Neuroectodermal Melanolysosomal Syndrome
Silver-gray hair, Hypopigmentation of the skin, Accumulation of melanosomes in melanocytes, Melan... OMIM:256710
Drug-Induced Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90157
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Ventricular tachycardia, First degree atrioventricular block, Right ventricular dilatation, Left ... OMIM:615616
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Oculocutaneous Albinism Type 3
Hypopigmentation of the skin, Generalized hypopigmentation of hair, White eyelashes, Iris hypopig... ORPHA:79433
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Alopecia of scalp, Hypermelanotic macu... ORPHA:69125
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Anonychia With Flexural Pigmentation
Anonychia, Axillary and groin hyperpigmentation and hypopigmentation OMIM:106750
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Respiratory insufficiency, Atrioventricular canal defect, Patent ductus arteriosus, Death in infa... ORPHA:1120
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of the skin, Albinism, Freckles in sun-exposed areas, Hypopigmentation of hair, ... OMIM:203200
Albinism, Oculocutaneous, Type Iv
Albinism, Hypopigmentation of hair, Blue irides OMIM:606574
Spastic Paraplegia 23, Autosomal Recessive
Vitiligo, Premature graying of body hair, Hyperpigmentation in sun-exposed areas, Multiple lentig... OMIM:270750
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Dystrophic toenail, Hypopigmentation of the skin, Absent toenail, Abnormal fingernail morphology,... ORPHA:89838
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:2786
Yemenite Deaf-Blind Hypopigmentation Syndrome
White forelock, Patchy hypo- and hyperpigmentation, Numerous pigmented freckles OMIM:601706
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Tricuspid Atresia
Cyanosis, Patent foramen ovale, Ventricular septal defect, Transposition of the great arteries, A... ORPHA:1209
Congenital Myopathy 8
Respiratory insufficiency, Increased variability in muscle fiber diameter, High palate, Muscle fi... OMIM:618654
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricu... ORPHA:860
Cardiomyopathy, Familial Hypertrophic, 15
Pulmonary arterial hypertension, Myofiber disarray, Apical hypertrophic cardiomyopathy, Left vent... OMIM:613255
Isolated Right Ventricular Hypoplasia
Cyanosis, Patent foramen ovale, Bidirectional shunt, Right bundle branch block, Systolic heart mu... ORPHA:439
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Respiratory insufficiency, Limb-girdle muscle weakness, Calf muscle hypertrophy, Sinus tachycardi... OMIM:255160
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Microcephaly-Albinism-Digital Anomalies Syndrome
Iris hypopigmentation, Hypopigmentation of the skin ORPHA:2513
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Mottled pigmentation of the trunk and proximal extremities, Discrete 2 to 5-mm hyper- and hypopig... OMIM:131960
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Long philtrum, Joint contracture of the hand, Spina bifida, Mitral valve prolapse, Camptodactyly,... OMIM:211960
Acalvaria
Spina bifida, Holoprosencephaly, Hydrocephalus ORPHA:945
Woolly Hair
Sparse body hair, Sparse lateral eyebrow, Brittle hair, Fine hair, Woolly hair, Hypopigmentation ... ORPHA:170
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Nodular goiter, Abnormal neck blood vessel morphology, Chronic no... ORPHA:97290
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Situs inversus totalis, Dextrocardia, Right aortic arch, Goiter OMIM:617577
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Flexion contracture,... OMIM:608099
Asbestos Intoxication
Cyanosis, Myocardial fibrosis, Oxygen desaturation on exertion, Pleural thickening, Hepatojugular... ORPHA:2302
Peripartum Cardiomyopathy
Sinus tachycardia, Cardiogenic shock, Palpitations, Elevated jugular venous pressure, Abnormal at... ORPHA:563
Scimitar Syndrome
Pneumothorax, Truncus arteriosus, Hypoplasia of the diaphragm, Pulmonary hypoplasia, Heart block,... ORPHA:185
Cardiomyopathy, Dilated, 1Gg
Reduced left ventricular ejection fraction, Cardiogenic shock, Dilated cardiomyopathy, Respirator... OMIM:613642
Alopecia, Congenital
Alopecia, Sparse hair OMIM:300042
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Fixed Subaortic Stenosis
Atrioventricular canal defect, Systolic heart murmur, Left ventricular outflow tract obstruction,... ORPHA:3092
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Spotty hyperpigmentation,... ORPHA:79399
Waardenburg Syndrome Type 1
Meningocele, Premature graying of hair, Spina bifida, Synophrys, White eyelashes, White eyebrow, ... ORPHA:894
Conotruncal Heart Malformations
Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula... OMIM:217095
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Spinal muscular atrophy, Ventricular septal defec... OMIM:253300
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Oculocutaneous Albinism
Hypopigmentation of the skin, Generalized hypopigmentation of hair, Ocular albinism, Generalized ... ORPHA:55
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Reduced left ventricular ejection fraction, Death... OMIM:614096
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Bronchopulmonary Dysplasia
Hyperoxemia, Tracheobronchomalacia, Pulmonary sequestration, Abnormal respiratory system physiolo... ORPHA:70589
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Interstitial cardiac fibrosis, Restrictive cardiomyopathy, Ventricular arrhyth... OMIM:613424
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Vogt-Koyanagi-Harada Disease
Vitiligo, Poliosis, Premature graying of hair, Hypopigmented skin patches ORPHA:3437
Cardiomyopathy, Dilated, 1M
Impaired myocardial contractility, Reduced left ventricular ejection fraction, Congestive heart f... OMIM:607482
Loeffler Endocarditis
Restrictive cardiomyopathy, Left ventricular diastolic dysfunction, Myocardial fibrosis, Pericard... ORPHA:75566
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ... ORPHA:33445
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress, Hypertrophic cardiomyopathy, Myopathy, Low-output congestive hear... ORPHA:91130
Piebald Trait-Neurologic Defects Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Hypopigmented skin patches, Hypopigment... ORPHA:2885
Oculocutaneous Albinism Type 2
Hypopigmentation of the skin, Iris transillumination defect, White eyelashes, Iris hypopigmentati... ORPHA:79432
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Atrial Septal Defect, Coronary Sinus Type
Pulmonary arterial hypertension, Systolic heart murmur, Unroofed coronary sinus, Transient ischem... ORPHA:99104
Hypotrichosis 8
Dry hair, Sparse eyebrow, Sparse scalp hair, Fair hair, Sparse axillary hair, Nail pits, Woolly h... OMIM:278150
Cardiomyopathy, Dilated, 2D
Pulmonary arterial hypertension, Patent foramen ovale, Interstitial cardiac fibrosis, Reduced lef... OMIM:619371
Hidrotic Ectodermal Dysplasia
Alopecia, Sparse eyebrow, Small nail, Sparse scalp hair, Brittle scalp hair, Slow-growing nails, ... ORPHA:189
Cardiomyopathy, Dilated, 1Ff
Severely reduced left ventricular ejection fraction, Congestive heart failure, Death in middle ag... OMIM:613286
Waardenburg Syndrome Type 2
Premature graying of hair, Hypopigmented skin patches, White forelock, Hypopigmentation of hair, ... ORPHA:895
Ventricular Septal Defect 1
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Tetralogy of Fall... OMIM:614429
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Congenital Heart Defects, Multiple Types, 2
Subvalvular aortic stenosis, Left ventricular outflow tract obstruction, Ventricular septal defec... OMIM:614980
Deafness, Autosomal Dominant 80
Morphological abnormality of the semicircular canal, Dilated vestibule of the inner ear, Cochlear... OMIM:619274
Left Ventricular Noncompaction 1
Sudden cardiac death, Patent ductus arteriosus, Ventricular septal defect, Ventricular arrhythmia... OMIM:604169
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Vitiligo, Multiple lentigines ORPHA:101003
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Enlarged vestibular aqueduct, Sensorineural hearing impairment, Incomplete partition of the cochl... OMIM:600791
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Cardiac Lipidosis, Familial
Congestive heart failure, Death in infancy, Cardiomyopathy OMIM:212080
Atrial Standstill
Flexion contracture, Ischemic stroke, Left ventricular noncompaction, Palpitations, Abnormal P wa... ORPHA:1344
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Truncus arteriosus, Atrial septal defect, Abnormal heart morphology, C... ORPHA:401935
Chiari Malformation Type Ii
Gray matter heterotopia, Myelomeningocele, Spina bifida, Hydrocephalus, Syringomyelia, Cervical m... OMIM:207950
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Pulmonic stenosis, Ventricular septal defect OMIM:601127
Double Outlet Right Ventricle
Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ... ORPHA:3426
Aortic Arch Interruption
Systolic heart murmur, Left ventricular outflow tract obstruction, Truncus arteriosus, Aortopulmo... ORPHA:2299
Nevus Comedonicus Syndrome
Spina bifida, Spina bifida occulta, Abnormal hair morphology ORPHA:64754
Chromosome 6Q24-Q25 Deletion Syndrome
Patent ductus arteriosus, Persistent fetal circulation, High palate, Long philtrum, High, narrow ... OMIM:612863
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Cardiomyopathy, Dilated, 2A
Myofiber disarray, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume, Conge... OMIM:611880
Atrioventricular Septal Defect 5
Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect OMIM:614474
Griscelli Syndrome Type 1
Iris hypopigmentation, Partial albinism, White hair, Premature graying of hair ORPHA:79476
Atrial Septal Defect, Ostium Primum Type
Systolic heart murmur, Pulmonary artery dilatation, Palpitations, Abnormal P wave, Tricuspid regu... ORPHA:99106
Hypertrichosis Lanuginosa Congenita
Thick eyebrow, Abnormality of skin pigmentation, Generalized hirsutism ORPHA:2222
Congenital Tricuspid Valve Dysplasia
Cyanosis, Patent foramen ovale, Systolic heart murmur, Cardiomegaly, Tricuspid regurgitation, Per... ORPHA:555874
Waardenburg Syndrome, Type 4A
Premature graying of hair, White eyelashes, White eyebrow, Hypopigmented skin patches, White fore... OMIM:277580
Thyroid Dyshormonogenesis 3
Goiter, Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma OMIM:274700
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Sudden cardiac death, Ventricular arrhythmia, Left ventricular hypertrophy, Dilated cardiomyopath... OMIM:601493
Cardiomyopathy, Dilated, 1S
Pulmonary arterial hypertension, Sudden cardiac death, Interstitial cardiac fibrosis, Reduced lef... OMIM:613426
Craniorachischisis
Spinal dysraphism, Myelomeningocele, Anencephaly, Sirenomelia, Cervical spina bifida ORPHA:63260
Otosclerosis 7
Conductive hearing impairment, Otosclerosis, Progressive hearing impairment, Abnormality of the a... OMIM:611572
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Papillary thyroid carcinoma, Goiter OMIM:188550
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Increased variability in muscle fiber diameter, Centrally nucleated skeleta... OMIM:611705
Hypothyroidism, Congenital, Nongoitrous, 5
Hypothyroidism, Patent foramen ovale, Decreased circulating free T4 concentration, Elevated circu... OMIM:225250
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis, Bilateral superior vena cava with bridging vein, Wolff-Parkinson-White syndrome, Abnorm... ORPHA:216694
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Goiter, Impaired sensitivity to thyroid hormone, Increased circulating free T4 concentration, Inc... OMIM:188570
Congenital Heart Defects, Multiple Types, 4
Atrioventricular canal defect, Ventricular septal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Congenital Pulmonary Lymphangiectasia
Pulmonary arterial hypertension, Cyanosis, Pulmonic stenosis, Chylopericardium, Respiratory distr... ORPHA:2414
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Abnormal aortic morphology, Webbed neck, Truncus arteriosus, Ventricular septal defect, Short neck ORPHA:2516
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomy... OMIM:617912
Absence Of The Pulmonary Artery
Cyanosis, Systolic heart murmur, Truncus arteriosus, Bronchiectasis, Abnormal cardiac septum morp... ORPHA:980
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Fingernail dysplasia, Hypopigmented skin patches, Onychogryposis of fingernail, Hyperpi... ORPHA:2251
Atrial Septal Defect, Ostium Secundum Type
Systolic heart murmur, Supraventricular arrhythmia, Abnormal left ventricular function, Palpitati... ORPHA:99103
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Asplenia, Atrioventricular canal defect, Syringomyelia, Pulmonary artery dilatation, Pleural effu... OMIM:265380
Cardiac Valvular Dysplasia 1
Cyanosis, Hypoplasia of right ventricle, Tricuspid regurgitation, Patent foramen ovale, Left aort... OMIM:212093
Deafness, X-Linked 6
Incomplete partition of the cochlea, Bilateral sensorineural hearing impairment OMIM:300914
Cardiomyopathy, Familial Hypertrophic, 8
Sudden cardiac death, Restrictive cardiomyopathy, Exertional dyspnea, Reduced left ventricular ej... OMIM:608751
Left Ventricular Noncompaction 10
Pulmonary arterial hypertension, Syncope, Congestive heart failure, Dilated cardiomyopathy, Left ... OMIM:615396
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Cor pulmonale, Desquamative interstitial pneumonitis, Respiratory distress, Cough, Recu... OMIM:263000
Focal Facial Dermal Dysplasia Type I
Sparse lateral eyebrow, Absent eyelashes, Spotty hypopigmentation, Spotty hyperpigmentation, Dist... ORPHA:79133
Thyroid Dyshormonogenesis 2A
Hypothyroidism, Thyroid defect in oxidation and organification of iodide, Decreased circulating T... OMIM:274500
Aplasia Cutis Congenita
Spinal dysraphism, Facial palsy ORPHA:1114
Cardiomyopathy, Dilated, 1L
Sudden cardiac death, Reduced left ventricular ejection fraction, Congestive heart failure, Incre... OMIM:606685
Oculocutaneous Albinism Type 4
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Abnormality of re... ORPHA:79435
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... OMIM:619705
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Cardiomyopathy, Dilated, 1B
Impaired myocardial contractility, Vascular dilatation, Ventricular arrhythmia, Congestive heart ... OMIM:600884
Cardiomyopathy, Dilated, 1Bb
Severely reduced left ventricular ejection fraction, Dilated cardiomyopathy, Increased left ventr... OMIM:612877
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:177910
Classic Multiminicore Myopathy
High palate, Multiple joint contractures, Generalized amyotrophy, Muscle fiber atrophy, Nocturnal... ORPHA:324604
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Heart Defects-Limb Shortening Syndrome
Ventricular septal defect, Abnormal mitral valve morphology, Death in infancy, Abnormality of the... ORPHA:1354
Cardiomyopathy, Dilated, 1U
Severely reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilat... OMIM:613694
Perching Syndrome
Cyanosis, High palate, Camptodactyly, Respiratory distress, Joint contracture OMIM:617055
Genitopalatocardiac Syndrome
Right aortic arch, Transposition of the great arteries, Ventricular septal defect, Double outlet ... OMIM:231060
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi... OMIM:275200
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Schisis Association
Spina bifida, Congenital diaphragmatic hernia, Anencephaly, Encephalocele ORPHA:63862
Endocardial Fibroelastosis
Restrictive cardiomyopathy, Anterior hypopituitarism, Congestive heart failure, Abnormal palate m... ORPHA:2022
Hypothyroidism, Congenital, Nongoitrous, 9
Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu... OMIM:301035
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Type 1 fibers relatively smaller than type 2 fibers, Respiratory distress, Dilated cardiomyopathy... OMIM:300580
Caudal Duplication
Spina bifida, Spinal cord lesion, Myelomeningocele ORPHA:1756
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
High palate, Limb hypertonia, Death in infancy, Pericardial effusion, Aortic aneurysm, Atrial sep... OMIM:620070
Adams-Oliver Syndrome 6
Portal hypertension, Ventricular septal defect, Truncus arteriosus, Tricuspid regurgitation OMIM:616589
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Trichorrhexis nodosa, Curly hair, Fine hair, Sparse eyelashes, Sparse hair OMIM:616760
Ebstein Malformation Of The Tricuspid Valve
Respiratory insufficiency, Imperforate tricuspid valve, Sudden cardiac death, Right bundle branch... ORPHA:1880
Cardiomyopathy, Dilated, 1I
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Red... OMIM:604765
Congenital Herpes Simplex Virus Infection
Hydranencephaly ORPHA:293
Isolated Klippel-Feil Syndrome
Ventricular septal defect, Ectopic anus, Spina bifida, Anal atresia, Cleft palate, Congenital mus... ORPHA:2345
Truncus Arteriosus
Hypoplasia of the thymus, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defec... ORPHA:3384
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Absent muscle dystrophin expression, Calf muscle hypertrophy, Elbow flexion contracture, Abnormal... ORPHA:206546
Congenital Gerbode Defect
Systolic heart murmur, Crackles, Palpitations, Elevated right atrial pressure, Tricuspid regurgit... ORPHA:99095
Cardiac Diverticulum
Angina pectoris, Bicuspid pulmonary valve, Palpitations, Pulmonary artery stenosis, Endocarditis,... ORPHA:1686
Aorto-Ventricular Tunnel
Aortic root aneurysm, Ventricular hypertrophy, Abnormal aortic morphology, Heart murmur, Congesti... ORPHA:3400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Vitiligo OMIM:619846
Stankiewicz-Isidor Syndrome
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Pineal cyst, Abnormal op... OMIM:617516
Familial Atrial Myxoma
Bacterial endocarditis, Vascular dilatation, Exertional dyspnea, Pulmonic valve myxoma, Heart mur... ORPHA:615
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Primary Pulmonary Hypoplasia
Cyanosis, Pneumothorax, Abnormal breath sound, Asthma, Secundum atrial septal defect, Hypoxemia, ... ORPHA:2257
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Increased variability in muscle fiber diameter, Limb-girdle muscle weakness, Centrally nucleated ... ORPHA:86812
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Hypoplastic pulmonary veins, Ventricular septal defect, Secundum a... OMIM:613854
Hermansky-Pudlak Syndrome 3
Albinism, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:614072
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Dilated cardiomyopathy, Left ventricular noncompaction, C... OMIM:615373
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Albinism, Hypopigmentation of hair, White hair, Blue irides, Absent skin pigment... OMIM:203100
Cardiomyopathy, Dilated, 1Ee
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613252
Acute Interstitial Pneumonia
Cyanosis, Bronchiectasis, Pericardial effusion, Pleural effusion, Crackles, Decreased DLCO, Nonpr... ORPHA:79126
Permanent Congenital Hypothyroidism
Goiter, Hypothyroidism, Thyroid dysgenesis, Umbilical hernia ORPHA:226292
Craniofaciofrontodigital Syndrome
Palmoplantar cutis laxa, Abnormal cerebral vascular morphology, Pericardial effusion, Gingival ov... ORPHA:363705
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis, Left ventricular outflow tract obstruction, Aortopulmonary window, Pulmonary hypoplasia... ORPHA:99050
Xeroderma Pigmentosum Variant
Freckles in sun-exposed areas, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90342
Uncombable Hair Syndrome 3
Pili canaliculi, Curly hair, Uncombable hair, Brittle hair OMIM:617252
Stuve-Wiedemann Syndrome 2
Pulmonary arterial hypertension, Camptodactyly, Respiratory distress, Congestive heart failure, S... OMIM:619751
Band Heterotopia
Agenesis of corpus callosum, Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Pendred Syndrome
Goiter, Compensated hypothyroidism, Thyroid carcinoma OMIM:274600
Postsynaptic Congenital Myasthenic Syndromes
Cyanosis, Weakness of long finger extensor muscles, High palate, Exertional dyspnea, Abnormality ... ORPHA:98913
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Respiratory distress, Upper airway obstruction, Dyspnea, Microglossia, Clef... ORPHA:141152
Complete Atrioventricular Septal Defect
Cyanosis, Systolic heart murmur, Crackles, Displacement of the papillary muscles, Abnormal P wave... ORPHA:1329
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Patent ductus arteriosus, Perimembranous ventricu... ORPHA:363444
Cardiomyopathy, Dilated, 1J
Sudden cardiac death, Abnormal left ventricular function, Congestive heart failure, Dilated cardi... OMIM:605362
Cardiomyopathy, Dilated, 1Dd
Sudden cardiac death, Left ventricular systolic dysfunction, Congestive heart failure, Dilated ca... OMIM:613172
Pleural Mesothelioma
Abnormal pleura morphology, Abnormal respiratory system physiology, Respiratory distress, Pleural... ORPHA:50251
Phace Association
Patent ductus arteriosus, Vascular dilatation, Anomalous branches of internal carotid artery, Ven... OMIM:606519
Diabetic Embryopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Spinal dysraphism, Abnormal aortic morpholo... ORPHA:1926
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Irregular hyperpigmentation, Abnormal eyebrow morphology, Generalized hirsutism, Generalized hypo... ORPHA:1816
Congenital Tracheomalacia
Respiratory insufficiency, Cyanosis, Pneumothorax, Bronchiectasis, Productive cough, Pulmonary hy... ORPHA:95430
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Left ventricular hypertrophy, Congestive heart failure, Hypertens... OMIM:540000
Cardiomyopathy, Familial Hypertrophic, 14
Left ventricular outflow tract obstruction, Right bundle branch block, Severely reduced left vent... OMIM:613251
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Anencephaly, Hydrocephalus, Myelomeningocele OMIM:182940
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Cardiomyopathy, Dilated, 1Kk
Left ventricular hypertrophy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Congestive ... OMIM:615248
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Cranioacrofacial Syndrome
Pulmonic stenosis, Ventricular septal defect OMIM:122850
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Albinism, Giant melanosomes in melanocytes OMIM:300650
Oculocutaneous Albinism Type 1B
Hypopigmentation of the skin, Melanocytic nevus, Albinism, Iris hypopigmentation, Abnormality of ... ORPHA:79434
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Agenesis Of The Corpus Callosum
Goiter, Primary hypothyroidism OMIM:225040
Atrial Septal Defect 2
Patent ductus arteriosus, Atrioventricular canal defect, Ventricular septal defect, Atrial septal... OMIM:607941
Thyroid Hormone Plasma Membrane Transport Defect
Goiter, Euthyroid hyperthyroxinemia OMIM:188560
Deiodinase, iodothyronine, type I
Goiter, Euthyroid hyperthyroxinemia OMIM:147892
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... ORPHA:79414
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Klippel-Trénaunay Syndrome
Respiratory insufficiency, Pulmonary embolism, Patent ductus arteriosus, Congestive heart failure... ORPHA:90308
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Tran... OMIM:616749
Thyroid Cancer, Nonmedullary, 4
Papillary thyroid carcinoma, Goiter, Ovarian neoplasm OMIM:616534
Cardiomyopathy, Familial Hypertrophic, 11
Right bundle branch block, Cardiac arrest, Syncope, Left ventricular hypertrophy, Angina pectoris... OMIM:612098
Hypothyroidism Due To Tsh Receptor Mutations
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:90673
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c... ORPHA:99832
Glycogen Storage Disease Of Heart, Lethal Congenital
Cyanosis, Hypotension, Pericardial effusion, Pleural effusion, Hypertrophic cardiomyopathy, Biven... OMIM:261740
Cardiomyopathy, Dilated, 1P
Ventricular arrhythmia, Reduced systolic function, Congestive heart failure, Dilated cardiomyopathy OMIM:609909
Genetic Transient Congenital Hypothyroidism
Elevated circulating thyroid-stimulating hormone concentration, Abnormal radioactive iodine uptak... ORPHA:226316
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Patent ductus arteriosus, Abnormal tricuspid valve morphology, Pulmonary artery atresia ORPHA:1208
Idiopathic Localized Lipodystrophy
Hyperpigmentation of the skin, Hypopigmentation of the skin ORPHA:90158
Hereditary Myopathy With Early Respiratory Failure
Tibialis muscle weakness, Muscle fiber splitting, Increased variability in muscle fiber diameter,... ORPHA:178464
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Increased variability in muscle fiber diameter, Respiratory insufficienc... OMIM:614399
Sandestig-Stefanova Syndrome
High palate, Perimembranous ventricular septal defect, Camptodactyly, Muscular ventricular septal... OMIM:618804
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Patent ductus arteriosus, Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left ... OMIM:618845
Czeizel-Losonci Syndrome
Myelomeningocele, High palate, Spina bifida, Hydrocephalus, Hypoplastic nipples, Pulmonary hypopl... ORPHA:2437
Thyroid Dyshormonogenesis 1
Goiter, Hypothyroidism, Umbilical hernia OMIM:274400
Pagod Syndrome
Meningocele, Sudden cardiac death, Abnormal aortic morphology, Encephalocele, Abnormal testis mor... ORPHA:991
Lissencephaly 4
Agenesis of corpus callosum, Colpocephaly OMIM:614019
Surfactant Metabolism Dysfunction, Pulmonary, 3
Cyanosis, Desquamative interstitial pneumonitis, Absent bronchoalveolar surfactant-protein C, Par... OMIM:610921
Infantile Sialic Acid Storage Disease
High palate, Gingival overgrowth, Hydrocephalus, Congestive heart failure, Cardiomegaly, Death in... OMIM:269920
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Dilated cardiomyopathy, Increased left ventricular end-diastolic volume OMIM:613881
Microphthalmia, Syndromic 9
Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Hypoplastic left atrium,... OMIM:601186
Cardiomyopathy, Dilated, 1V
Reduced left ventricular ejection fraction, Syncope, Left ventricular hypertrophy, Dilated cardio... OMIM:613697
Sensorineural Deafness With Dilated Cardiomyopathy
Abnormal cardiac ventricular function, Dilated cardiomyopathy, Congestive heart failure ORPHA:217622
Pyknoachondrogenesis
Stillbirth OMIM:265880
Ritscher-Schinzel Syndrome 1
Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular... OMIM:220210
Criss-Cross Heart
Respiratory insufficiency, Cyanosis, Ventricular septal defect, Abnormal mitral valve morphology,... ORPHA:1461
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Type II diabetes mellitus, Increa... OMIM:274300
Partial Atrioventricular Septal Defect
Angina pectoris, Palpitations, Atrial arrhythmia, Double outlet right ventricle, Partial atrioven... ORPHA:1330
Polymyositis
Respiratory insufficiency, Abnormal atrioventricular conduction, Abnormal pulmonary interstitial ... ORPHA:732
Acropectorovertebral Dysplasia
Spina bifida ORPHA:957
Megabladder, Congenital
Patent ductus arteriosus, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect,... OMIM:618719
Aminopterin/Methotrexate Embryofetopathy
Meningocele, Spinal dysraphism, Encephalocele, Ventricular septal defect, Anencephaly, Hydrocepha... ORPHA:1908
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Patent ductus arteriosus, Increased variability in muscle fiber diameter, Patent foramen ovale, F... OMIM:616866
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Gonadotropin deficiency, Oxygen desaturation on exertion, Crackles, Wheezing, Ventricular septal ... OMIM:610978
Cardiac-Urogenital Syndrome
Cor triatrium sinister, Pericardial effusion, Patent urachus, Pulmonary hypoplasia, Unilateral cr... OMIM:618280
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Attrv122I Amyloidosis
Anemia, Restrictive cardiomyopathy, Reduced left ventricular ejection fraction, Abnormal EKG, Lef... ORPHA:85451
Thyroid Lymphoma
Hypothyroidism, Hyperthyroidism, Broad neck, Hashimoto thyroiditis, Lymphadenopathy, Goiter ORPHA:97285
Heterotaxy, Visceral, 1, X-Linked
Subvalvular aortic stenosis, Asplenia, Atrioventricular canal defect, Cyanosis, Duodenal atresia,... OMIM:306955
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Premature thelarche, Ventricular septal defect, Nodular goiter, Mi... ORPHA:371428
Thiamine-Responsive Megaloblastic Anemia Syndrome
Megaloblastic anemia, Ventricular septal defect, Paroxysmal atrial tachycardia, Cardiac arrest, C... ORPHA:49827
Acrocardiofacial Syndrome
Hyperthyroidism, Truncus arteriosus, Ventricular septal defect, Mitral stenosis, Atrial septal de... ORPHA:2008
Waardenburg Syndrome, Type 1
Myelomeningocele, Premature graying of hair, Spina bifida, Synophrys, White eyelashes, White eyeb... OMIM:193500
Structural Heart Defects And Renal Anomalies Syndrome
Systolic heart murmur, Truncus arteriosus, Ventricular septal defect, Interrupted aortic arch, At... OMIM:617478
Obesity Due To Prohormone Convertase I Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Red hair, Hypopigmentation of the skin ORPHA:71526
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Notched primary central incisor, Hydrocele testis OMIM:620062
Familial Cold Autoinflammatory Syndrome 3
Vitiligo OMIM:614468
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Camptodactyly of finger, Flexion contracture, Wide mouth, Death in infancy, Abnormal aortic valve... ORPHA:1194
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio... OMIM:618052
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Tetralogy of Fallot, Abnormality of thyroid physiology, Cryptorchidism OMIM:615542
Deafness, Autosomal Dominant 77
Morphological abnormality of the inner ear, Sensorineural hearing impairment, Tinnitus OMIM:618915
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory insufficiency, Increased variability in muscle fiber diameter, Respiratory distress, ... ORPHA:238329
Congenital Muscular Dystrophy Due To Lmna Mutation
Respiratory insufficiency, Flexion contracture, Death in infancy, Congestive heart failure, Myopa... ORPHA:157973
Neurogenic Arthrogryposis Multiplex Congenita
Knee flexion contracture, Wrist flexion contracture, Flexion contracture, Hip contracture, Lower ... ORPHA:1143
Recombinant Chromosome 8 Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Ventricular septal defect, Atrial septal... OMIM:179613
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Decreased thyroid-stimulati... ORPHA:95715
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly, Macroorchidism, Hydrocephalus, Congestive heart failure OMIM:300886
Neurodevelopmental Disorder With Poor Growth, Spastic Tetraplegia, And Hearing Loss
Muscular ventricular septal defect, Macrocytic anemia, Cryptorchidism OMIM:620071
Neurodevelopmental Disorder And Language Delay With Or Without Structural Brain Abnormalities
High palate, Short philtrum, Atrial septal defect, Muscular ventricular septal defect, Umbilical ... OMIM:618354
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Unbalanced atrioventricular canal defect, Hypoplastic left heart, ... OMIM:614779
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Left ventricular hypertrophy, Congestive heart failure, Apnea, Bradycardia OMIM:619048
Cardiomyopathy, Dilated, 1Z
Sudden cardiac death, Congestive heart failure, Dilated cardiomyopathy OMIM:611879
Familial Thyroid Dyshormonogenesis
Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati... ORPHA:95716
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Dilated cardiomyopathy, Congestive heart failure, Ventricular tachycardia, Tooth agenesis, Cardio... OMIM:605676
Cardiomyopathy, Familial Hypertrophic, 1
Subvalvular aortic stenosis, Congestive heart failure, Asymmetric septal hypertrophy, Arrhythmia OMIM:192600
Primary Ciliary Dyskinesia
Asplenia, Bronchiectasis, Productive cough, Airway obstruction, Abnormal inferior vena cava morph... ORPHA:244
Uncombable Hair Syndrome 1
Dry hair, Pili canaliculi, Uncombable hair OMIM:191480
Aorta Coarctation
Pulmonary arterial hypertension, Aortic valve atresia, Patent ductus arteriosus, Perimembranous v... ORPHA:1457
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Meningocele, Respiratory insufficiency, Diastomatomyelia, Duodenal steno... ORPHA:1759
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Stillbirth, Aortic valve... OMIM:615415
Retinitis Pigmentosa 35
Abnormality of skin pigmentation OMIM:610282
Muscular Dystrophy, Duchenne Type
Knee flexion contracture, Cardiomyopathy, Flexion contracture, Respiratory failure, Hypoventilati... OMIM:310200
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Pulmonary embolism, Hypertension, Congestive heart failure, Hypertrophic cardiomyopathy, Arrhythm... ORPHA:1345
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized hypopigmentation, Spotty hyperpigmentation, Hyperpigmentation of the skin, Nail dystr... ORPHA:158681
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Emanuel Syndrome
Patent ductus arteriosus, Ventricular septal defect, Truncus arteriosus, Delayed eruption of prim... OMIM:609029
Infantile-Onset X-Linked Spinal Muscular Atrophy
Knee flexion contracture, Respiratory insufficiency, Hip contracture, Spinal muscular atrophy, Hi... ORPHA:1145
Holoprosencephaly 5
Syntelencephaly, Lateral ventricle dilatation, Hydrocephalus, Semilobar holoprosencephaly, Lobar ... OMIM:609637
Sandhoff Disease
Recurrent respiratory infections, Congestive heart failure, Splenomegaly, Cherry red spot of the ... ORPHA:796
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Muscular Hypertonia, Lethal
Pneumonia, Respiratory distress, Umbilical hernia, Death in infancy OMIM:254120
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Combined Oxidative Phosphorylation Deficiency 17
Hypertrophic cardiomyopathy, Death in childhood, Congestive heart failure, Death in infancy OMIM:615440
Surfactant Metabolism Dysfunction, Pulmonary, 1
Pulmonary arterial hypertension, Cyanosis, Intraalveolar phospholipid accumulation, Desquamative ... OMIM:265120
Fetal Minoxidil Syndrome
Ventricular septal defect, Umbilical hernia ORPHA:1918
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Patent ductus arteriosus, Double outlet right ventricle, Atrial septal defect, Tetralogy of Fallo... ORPHA:3304
Acatalasemia
Vitiligo ORPHA:926
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Abnormality of hair texture, Nail dystrophy, Nail dysplasia OMIM:601957
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure, Ragged-red muscle fibers, Congestive heart failure OMIM:616794
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Hypothyroidism, Abnormal autonomic nervous system physiology, Limited neck flexion, Cerebral vasc... ORPHA:83601
Lelis Syndrome
Vitiligo, Perioral hyperpigmentation ORPHA:140936
Camptodactyly Syndrome, Guadalajara Type 1
Camptodactyly of finger, Microtia, Spina bifida, Attached earlobe, Low-set, posteriorly rotated e... ORPHA:1327
Polyrrhinia
Abnormal third ventricle morphology, Lateral ventricle dilatation ORPHA:141091
Cochleosaccular Degeneration-Cataract Syndrome
Cochlear degeneration, Progressive sensorineural hearing impairment ORPHA:3233
Pulmonary Capillary Hemangiomatosis
Elevated pulmonary artery pressure, Cyanosis, Exertional dyspnea, Hemothorax, Pulmonary edema, Pe... ORPHA:199241
Gaucher Disease Type 2
Flexion contracture, Cardiac arrest, Respiratory distress, Abnormal pattern of respiration, Cough... ORPHA:77260
Laubry-Pezzi Syndrome
Elevated pulmonary artery pressure, Patent foramen ovale, Patent ductus arteriosus, Right ventric... ORPHA:99094
Neuralgic Amyotrophy
Respiratory insufficiency, Acrocyanosis, Narrow mouth, Scapular winging, Cleft palate ORPHA:2901
Cardiac Valvular Dysplasia, X-Linked
Bicuspid aortic valve, Short chordae tendineae of the mitral valve, Mitral valve prolapse, Short ... OMIM:314400
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Abnormal speech discrimination, Vertigo, Skeletal muscle atrophy, C... OMIM:300614
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Mucopolysaccharidosis, Type Ii
Tracheobronchomalacia, Flexion contracture, Delayed eruption of teeth, Asthma, Widely spaced teet... OMIM:309900
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Iris hypopigmentation, Hypopigmentation of the skin, Hypopigmentation of hair ORPHA:411515
Immune-Mediated Necrotizing Myopathy
Abnormal pulmonary interstitial morphology, Raynaud phenomenon, Congestive heart failure, Muscle ... ORPHA:206569
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Cardiac Valvular Dysplasia 2
Subvalvular aortic stenosis, Systolic heart murmur, Ascending tubular aorta aneurysm, Pulmonary i... OMIM:620067
Oculocutaneous Albinism Type 1
Generalized hypopigmentation, Generalized hypopigmentation of hair, Iris transillumination defect... ORPHA:352731
Graves Disease, Susceptibility To, 1
Increased circulating free T3, Decreased thyroid-stimulating hormone level, Graves disease, Incre... OMIM:275000
Oculocutaneous Albinism Type 1A
Hypopigmentation of the skin, Ocular albinism, Albinism, Iris hypopigmentation, Hypopigmentation ... ORPHA:79431
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypotension, Respiratory tract infection, Pulmonary edema, Cardiac arrest, Nasal flarin... ORPHA:70587
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Desminopathy
Sudden cardiac death, Concentric hypertrophic cardiomyopathy, Supraventricular arrhythmia, Conges... ORPHA:98909
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Le... ORPHA:444013
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Generalized amyotrophy, Sideroblastic anemia, Respiratory distress, Hypertrophic cardiomyopathy, ... OMIM:613561
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Hydrocephalus, Ventricular septal defect, Abnormal cardiac septum morphology, Mitral regurgitation ORPHA:83473
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
High palate, Ventilator dependence with inability to wean, Macroglossia, Respiratory distress, My... ORPHA:254864
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Blepharochalasis And Double Lip
Goiter OMIM:109900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Incessant Infant Ventricular Tachycardia
Supraventricular tachycardia, Histiocytoid cardiomyopathy, Cardiac rhabdomyoma, Cardiac arrest, W... ORPHA:45453
Adams-Oliver Syndrome 4
Patent ductus arteriosus, Atrial septal defect, Ventricular septal defect, Umbilical hernia OMIM:615297
Capillary Malformation-Arteriovenous Malformation
Telangiectasia, Cerebral ischemia, Arteriovenous malformation, Cerebral arteriovenous malformatio... ORPHA:137667
Phosphoserine Aminotransferase Deficiency
Apnea, Cyanotic episode, Death in infancy OMIM:610992
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Heterochromia iridis, Premature graying of hair ORPHA:66633
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Distal arthrogryposis, Plantar flexion contracture, Wrist drop, High palate, Diaphragmatic eventr... OMIM:620011
Cerebrocostomandibular Syndrome
Meningocele, Myelomeningocele, Ventricular septal defect, Death in infancy, Spina bifida, Hydrane... ORPHA:1393
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory insufficiency, Flexion contracture, Abnormal muscle glycogen content, Respiratory dis... ORPHA:367
Immunodeficiency 7
Vitiligo OMIM:615387
Mesoaxial Hexadactyly And Cardiac Malformation
Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Ventricular septal defect OMIM:249670
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter OMIM:138790
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Respiratory insufficiency, Abnormal lower lip morphology, Abnormal aortic morphology, Ventricular... ORPHA:1166
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Idiopathic Trachyonychia
Vitiligo ORPHA:79153
Avian Influenza
Leukopenia, Myelitis, Pneumothorax, Rhabdomyolysis, Productive cough, Hypoxemia, Respiratory dist... ORPHA:454836
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Axial muscle atrophy, Limb-girdle muscle weakness, Right bundle branch block, Exertional dyspnea,... ORPHA:254361
Congenital Hypothyroidism
Abnormal pericardium morphology, Hypothyroidism, Hypogonadism, Optic atrophy, Anterior hypopituit... ORPHA:442
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Non-Involuting Congenital Hemangioma
Congestive heart failure, Subcutaneous calcification, Prominent superficial veins, Peripheral art... ORPHA:141179
Pendred Syndrome
Sensorineural hearing impairment, Hypoplasia of the cochlea, Enlarged vestibular aqueduct, Abnorm... ORPHA:705
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Myopathy, Apneic episodes precipitated by illness, fatigue, stress, Type 2 ... OMIM:605809
Immunodeficiency 95
Respiratory distress, Lymphopenia, Respiratory failure, Recurrent viral upper respiratory tract i... OMIM:619773
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Macroorchidism, Contractures of the large joints, Abnormal atrioventricular valve morphology, Mit... ORPHA:324410
Eosinophilic Granulomatosis With Polyangiitis
Respiratory insufficiency, Myositis, Hypertrophic cardiomyopathy, Intestinal obstruction, Eosinop... ORPHA:183
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Waardenburg Syndrome, Type 3
Premature graying of hair, Synophrys, Hypopigmented skin patches, White forelock, Heterochromia i... OMIM:148820
Myopathy And Diabetes Mellitus
Skeletal myopathy, Weakness of orbicularis oculi muscle, Distal lower limb amyotrophy, Achilles t... ORPHA:2596
Hydrocephalus, Congenital, 3, With Brain Anomalies
Ventriculomegaly, Hydrocephalus, Hydranencephaly, Holoprosencephaly, Dandy-Walker malformation OMIM:617967
Dilated Cardiomyopathy With Ataxia
Normochromic microcytic anemia, Diaphragmatic eventration, Generalized amyotrophy, Bilateral cryp... ORPHA:66634
Neonatal Marfan Syndrome
Aortic root aneurysm, Flexion contracture, Ascending tubular aorta aneurysm, Heart murmur, Decrea... ORPHA:284979
Butyrylcholinesterase Deficiency
Respiratory failure, Myocardial infarction, Respiratory failure requiring assisted ventilation, C... ORPHA:132
Cardiomyopathy, Dilated, 2G
Myofiber disarray, Right bundle branch block, Cerebral hemorrhage, Myocardial sarcomeric disarray... OMIM:619897
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Patent ductus arteriosus, Double outlet right ventricle, Mitral atresia, Optic atrophy, Redundant... OMIM:618164
Anophthalmia Plus Syndrome
Spina bifida, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes ORPHA:1104
Emanuel Syndrome
Patent ductus arteriosus, Truncus arteriosus, Hypogonadism, Ventricular septal defect, Delayed er... ORPHA:96170
Cryptogenic Organizing Pneumonia
Cyanosis, Pneumothorax, Neutrophilia, Hypoxemia, Respiratory distress, Crackles, Restrictive vent... ORPHA:1302
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dilated cardiomyopathy, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Dysp... ORPHA:1349
Eng-Strom Syndrome
Ventricular septal defect, Abnormal cardiac septum morphology ORPHA:1937
Bronchogenic Cyst
Abnormal pericardium morphology, Abnormal pleura morphology, Pulmonary cyst, Atelectasis, Abnorma... ORPHA:2357
Bangstad Syndrome
Primary gonadal insufficiency, Goiter, Pancytopenia, Insulin-resistant diabetes mellitus OMIM:210740
Amish Lethal Microcephaly
Spina bifida, Lissencephaly, Optic atrophy, Limb hypertonia ORPHA:99742
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Absent gallbladder, Pancreatic hypoplasia, Patent foramen ovale, Truncu... OMIM:600001
Hypoglossia With Situs Inversus
Asplenia, High palate, Hypodontia, Polysplenia, Respiratory distress, Situs inversus totalis, Upp... OMIM:612776
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory insufficiency, Cyanosis, Bronchiectasis, Desquamative interstitial pneumonitis, Decre... OMIM:610913
Anaplastic Thyroid Carcinoma
Broad neck, Nodular goiter, Anaplastic thyroid carcinoma, Lymphadenopathy, Goiter ORPHA:142
Congenital Vertical Talus
Achilles tendon contracture, Distal arthrogryposis, Myelomeningocele, Abnormality of the foot mus... ORPHA:178382
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Type 2 muscle fib... OMIM:254210
3-Methylglutaconic Aciduria, Type V
Sudden cardiac death, Normochromic microcytic anemia, Diaphragmatic eventration, Decreased testic... OMIM:610198
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Patent ductus arteriosus, Hypothyroidism, Atrioventricular canal defect, Ventricular septal defec... ORPHA:3047
Pulmonary Arteriovenous Malformation
Pulmonary arterial hypertension, Cyanosis, Pulmonary hemorrhage, Bacterial endocarditis, Telangie... ORPHA:2038
Acquired Aneurysmal Subarachnoid Hemorrhage
Abnormal cerebral artery morphology, Ischemic stroke, Cerebral hemorrhage, Cerebral ischemia, Hyd... ORPHA:90065
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Intermediate Generalized Junctional Epidermolysis Bullosa
Sparse body hair, Abnormality of skin pigmentation, Scarring alopecia of scalp, Anonychia, Nail d... ORPHA:79402
Rapidly Involuting Congenital Hemangioma
Congestive heart failure, Subcutaneous calcification, Prominent superficial veins, Peripheral art... ORPHA:141184
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Patent ductus arteriosus, Double outlet right ventricle, Patent foramen ovale, Webbed neck, Ventr... OMIM:618316
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Waardenburg-Shah Syndrome
Abnormal eyebrow morphology, Premature graying of hair, Synophrys, White eyelashes, White eyebrow... ORPHA:897
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, Myopathy, Congestive heart failure OMIM:618234
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis, Double outlet right ventricle, Midgut malrotation, Pulmonary insufficiency, Heart murmu... ORPHA:2326
Sotos Syndrome
Patent ductus arteriosus, Narrow palate, Ventricular septal defect, High palate, Advanced eruptio... OMIM:117550
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Hyperthyroidism, Increased circulating T4 concentration, Decreased thyroid-stimulating hormone le... OMIM:613239
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Increased variability in muscle fiber diameter, Fatty replacement of skeletal muscle, Generalized... ORPHA:52430
Cardiomyopathy, Dilated, 2E
Death in infancy, Ebstein anomaly of the tricuspid valve, Dilated cardiomyopathy, Reduced systoli... OMIM:619492
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Frontal encephalocele ORPHA:261102
Danon Disease
Second degree atrioventricular block, Increased QRS voltage, Generalized amyotrophy, Severely red... OMIM:300257
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Muscle fiber atrophy, Elbow flexion contracture, Fragile skin, Arterial rupture, Aortic dissectio... ORPHA:1900
Short Chain Acyl-Coa Dehydrogenase Deficiency
Myopathy, Respiratory distress, Cardiomyopathy ORPHA:26792
Otosclerosis 10
Otosclerosis OMIM:615589
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Bicuspid aortic v... ORPHA:477817
Idiopathic Pulmonary Arterial Hypertension
Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Heart murmur, Syncope, Conge... ORPHA:275766
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Hypoplasia of right ventricle, Pulmonary artery stenosis, Double out... ORPHA:2255
Heterotaxy, Visceral, 12, Autosomal
Double outlet right ventricle, Patent foramen ovale, Ventricular septal defect, Left superior ven... OMIM:619702
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Subvalvular aortic stenosis, Ventricular septal defect, Pulmonary artery atresia, Secundum atrial... OMIM:108900
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Combined Oxidative Phosphorylation Deficiency 23
Arrhythmia, Congestive heart failure, Cardiomyopathy OMIM:616198
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Long Qt Syndrome 13
Pulmonary embolism, Torsade de pointes, Permanent atrial fibrillation, Reduced left ventricular e... OMIM:613485
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation ORPHA:369840
Aland Island Eye Disease
Albinism OMIM:300600
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Melanocytic nevus, Pili torti, Brittle hair, Fine hair, Freckling ORPHA:1573
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Spinal dysraphism, Mitral stenosis, Atrial septal defect, Hypoplastic left heart, Tethered cord, ... OMIM:617660
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Isolated Thyroid-Stimulating Hormone Deficiency
Macroorchidism, Increased circulating prolactin concentration, Increased pituitary glycoprotein h... ORPHA:90674
Cutis Laxa, Autosomal Dominant 1
Ventricular septal defect, Bronchiectasis, Long philtrum, Congestive heart failure, Emphysema, Ao... OMIM:123700
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Central sleep apnea, Congestive heart failure, Hypertrophic cardiomyopathy, Stroke-like episode, ... ORPHA:70472
Pericardial And Diaphragmatic Defect
Patent ductus arteriosus, Pulmonary sequestration, Mitral stenosis, Bicuspid aortic valve, Partia... ORPHA:2847