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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
Familial Isolated Café-Au-Lait Macules
Multiple cafe-au-lait spots, Freckling 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, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes OMIM:609227
Vitiligo-Associated Multiple Autoimmune Disease Susceptibility 6
Vitiligo OMIM:193200
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive
Progressive hyperpigmentation, Hypermelanotic macule, Hypopigmented skin patches, Multiple lentig... OMIM:145250
Albinism-Deafness Syndrome
Piebaldism, Patchy hypo- and hyperpigmentation, Partial albinism, Albinism OMIM:300700
Spina Bifida-Hypospadias Syndrome
Spina bifida, Spinal dysraphism ORPHA:3176
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
Accumulation of melanosomes in melanocytes, White eyelashes, White eyebrow, Silver-gray hair, Lar... OMIM:214450
Anencephaly 1
Anencephaly, Spina bifida OMIM:206500
Tietz Syndrome
Abnormality of skin pigmentation, Hypopigmentation of the skin, Hypopigmentation of hair, White e... ORPHA:42665
Autoimmune Disease, Susceptibility To, 1
Vitiligo OMIM:607836
Albinism-Deafness Syndrome
Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro... ORPHA:998
Albinism, Oculocutaneous, Type Iii
Red hair, Partial albinism, Albinism OMIM:203290
Ermine Phenotype
White eyelashes, White eyebrow, Albinism, White hair, Spotty hyperpigmentation, Vitiligo OMIM:227010
Dilution, Pigmentary
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation OMIM:126070
Nevus, Epidermal
Melanocytic nevus OMIM:162900
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
Adrenocortical Unresponsiveness To Acth With Postreceptor Defect
Hyperpigmentation of the skin OMIM:202355
Griscelli Syndrome Type 3
Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79478
Raindrop Hypopigmentation
Hypopigmentation of the skin OMIM:179500
Book Syndrome
Premature graying of hair OMIM:112300
Dyschromatosis Universalis Hereditaria
Hypermelanotic macule, Spotty hypopigmentation, Hypopigmented skin patches, Multiple cafe-au-lait... ORPHA:241
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Neural tube defect, Type II lissencephaly, Cerebellar dysplasia OMIM:615041
Waardenburg Syndrome, Type 2F
Hypermelanotic macule, White hair, Blue irides, Premature graying of hair, White forelock, Cafe-a... OMIM:619947
Albinism, Oculocutaneous, Type Ib
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:606952
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Alopecia, Onychogryposis of toenails, Alopecia of scalp, Hypopigmentation of the skin, Sparse bod... OMIM:617294
Diamond-Blackfan Anemia 17
Hyperpigmentation of the skin OMIM:617409
Piebald Trait
Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr... OMIM:172800
Uv-Sensitive Syndrome 2
Freckling OMIM:614621
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency
Hypopigmentation of hair, Partial albinism ORPHA:90023
Oculocerebral Syndrome With Hypopigmentation
Silver-gray hair, Hypopigmentation of the skin OMIM:257800
Deafness, Congenital, With Total Albinism
Albinism OMIM:220900
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Irregular hyperpigmentation, Hypopigmented skin patches, Melanocytic nevus ORPHA:2435
Uncombable Hair Syndrome
Abnormal hair morphology, White hair, Coarse hair, Patchy alopecia, Trichodysplasia, Woolly hair ORPHA:1410
Waardenburg Syndrome, Type 2B
Premature graying of hair, White forelock, Heterochromia iridis OMIM:600193
Angioma, Tufted
Abnormality of skin pigmentation OMIM:607859
Ringed Hair Disease
Abnormal hair pattern, Fine hair ORPHA:169
Inflammatory Poikiloderma With Hair Abnormalities And Acral Keratoses
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse eyebrow, Mottled pigmentation OMIM:620199
Pili Bifurcati
Abnormal hair morphology, Abnormality of hair texture ORPHA:720
Dowling-Degos Disease 2
Hypomelanotic macule, Reticular hyperpigmentation OMIM:615327
Griscelli Syndrome, Type 2
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:607624
Congenital Disorder Of Glycosylation, Type I/Iix
Abnormality of skin pigmentation OMIM:212067
Tietz Albinism-Deafness Syndrome
White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis OMIM:103500
Glucocorticoid Deficiency 3
Hyperpigmentation of the skin OMIM:609197
Atrial Fibrillation, Familial, 10
Atrial flutter, Tricuspid regurgitation, Paroxysmal atrial fibrillation, Left atrial enlargement,... OMIM:614022
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Spastic Paraplegia-Facial-Cutaneous Lesions Syndrome
Hypopigmented skin patches, Hyperpigmentation of the skin ORPHA:2819
Arrhythmogenic Right Ventricular Dysplasia, Familial, 14
Ventricular tachycardia, Left bundle branch block, Premature ventricular contraction, Right ventr... OMIM:618920
Oculocutaneous Albinism, Type Viii
Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin OMIM:619165
Coronary Arterial Fistula
Continuous heart murmur, Bicuspid aortic valve, Cardiomegaly, Abnormal left ventricular function,... ORPHA:2041
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Chronic noninfectious lymphadenopathy, Spinal cord compression, Abn... ORPHA:319487
Albinism, Oculocutaneous, Type Vi
Generalized hypopigmentation, Fair hair OMIM:113750
Piebaldism
Hypopigmentation of hair, White eyelashes, White eyebrow, Synophrys, Piebaldism, Hypopigmented sk... ORPHA:2884
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Tremor Of Intention, Ataxia, And Lipofuscinosis
Premature graying of hair OMIM:190200
Deafness, Congenital, With Vitiligo And Achalasia
Vitiligo OMIM:221350
Atrial Septal Defect, Sinus Venosus Type
Automatic atrial tachycardia, First degree atrioventricular block, Right ventricular dilatation, ... ORPHA:99105
Thumb Deformity And Alopecia
Alopecia, Increased groin pigmentation with raindrop depigmentation OMIM:188150
Idiopathic/Heritable Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal cardiovascular system physiology, Heart murmur, Right ventricul... ORPHA:422
Myelopathy, Htlv-1-Associated
Myelopathy OMIM:159580
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Hydranencephaly, Truncus arteriosus, Ventricular septal defect OMIM:601355
Osteopathia Striata-Pigmentary Dermopathy-White Forelock Syndrome
Macular hyperpigmented dermopathy, White forelock ORPHA:2779
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, First degree atrioventricular block, Cardiomegaly, Right atrial enlargement... OMIM:115197
Hydrocephalus, Congenital, 1
Hydrocephalus, Ventriculomegaly OMIM:236600
Waardenburg Syndrome, Type 4B
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613265
Epidermolysis Bullosa Simplex With Mottled Pigmentation
Alopecia, Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Reticulated skin ... ORPHA:79397
Waardenburg Syndrome, Type 2A
White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,... OMIM:193510
Elejalde Neuroectodermal Melanolysosomal Syndrome
Accumulation of melanosomes in melanocytes, Silver-gray hair, Hypopigmentation of the skin, Melan... OMIM:256710
Frontal Encephalocele
Encephalocele, Hydrocephalus, Spina bifida ORPHA:1931
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Hypoplastic left heart, Anencephaly, Spina bifida ORPHA:2476
Drug-Induced Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90157
Arrhythmogenic Right Ventricular Dysplasia, Familial, 13
Right ventricular dilatation, Ventricular tachycardia, First degree atrioventricular block, Left ... OMIM:615616
Ophthalmoplegia, External, And Myopia
Spina bifida OMIM:311000
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Oculocutaneous Albinism Type 3
White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Red hair, Gener... ORPHA:79433
Anonychia With Flexural Pigmentation
Hypermelanotic macule, Abnormal hair morphology, Axillary and groin hyperpigmentation and hypopig... ORPHA:69125
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities
Abnormality of skin pigmentation OMIM:300719
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue irides, Red hair, Hypopig... OMIM:203200
Cardiomyopathy, Dilated, 2H
Secundum atrial septal defect, Muscular ventricular septal defect, Tachypnea, Cardiorespiratory a... OMIM:620203
Anonychia With Flexural Pigmentation
Axillary and groin hyperpigmentation and hypopigmentation, Anonychia OMIM:106750
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Tricuspid regurgitation, Bicuspid aortic valve, Congenital diaphragmatic hernia... ORPHA:1120
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Blue irides, Albinism OMIM:606574
Spastic Paraplegia 23, Autosomal Recessive
Hyperpigmentation in sun-exposed areas, Multiple lentigines, Premature graying of body hair, Viti... OMIM:270750
Autosomal Recessive Generalized Epidermolysis Bullosa Simplex
Ridged nail, Abnormal fingernail morphology, Hyperpigmentation of the skin, Abnormal toenail morp... ORPHA:89838
Yemenite Deaf-Blind Hypopigmentation Syndrome
Numerous pigmented freckles, Patchy hypo- and hyperpigmentation, White forelock OMIM:601706
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism ORPHA:2786
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Congenital Myopathy 8
Reduced vital capacity, Internally nucleated skeletal muscle fibers, Cardiomegaly, Congestive hea... OMIM:618654
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Cardiac shunt, Cardiomegaly, Tachypnea, Abnormal aortic arch... ORPHA:860
Tricuspid Atresia
Cyanosis, Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persist... ORPHA:1209
Cardiomyopathy, Familial Hypertrophic, 15
Hyperdynamic left ventricular ejection fraction, Congestive heart failure, Myofiber disarray, Lef... OMIM:613255
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Right axis deviation, Muscle fiber hyaline bodies, Limb-girdle muscle weakness, High palate, Type... OMIM:255160
Isolated Right Ventricular Hypoplasia
Cyanosis, Tricuspid regurgitation, Abnormal atrioventricular conduction, Cardiomegaly, Right vent... ORPHA:439
Epidermolysis Bullosa Simplex 2F, With Mottled Pigmentation
Discrete 2 to 5-mm hyper- and hypopigmented macules, Nail dystrophy, Nail dysplasia, Hypoplastic ... OMIM:131960
Camptodactyly With Muscular Hypoplasia, Skeletal Dysplasia, And Abnormal Palmar Creases
Small hypothenar eminence, Spina bifida, Mitral valve prolapse, Small thenar eminence, Camptodact... OMIM:211960
Microcephaly-Albinism-Digital Anomalies Syndrome
Hypopigmentation of the skin, Iris hypopigmentation ORPHA:2513
Piebald Trait With Neurologic Defects
White forelock, Absent pigmentation of the ventral chest OMIM:172850
Peripartum Cardiomyopathy
Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,... ORPHA:563
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Congestive heart failur... OMIM:608099
Woolly Hair
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Fine hair... ORPHA:170
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Decreased DLCO, Oxygen desaturation on exerti... ORPHA:2302
Scimitar Syndrome
Respiratory distress, Heart block, Abnormal lung morphology, Hypoplasia of the diaphragm, Pulmona... ORPHA:185
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ... OMIM:613642
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Right aortic arch, Hypothyroidism, Goiter OMIM:617577
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Chronic noninfectious lymphadenopathy, Abnormal lymph node morphology, Papillary thyroid carcinom... ORPHA:97290
White Forelock With Malformations
White forelock, Poliosis OMIM:277740
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Hypopigmentation of the skin OMIM:610798
Acalvaria
Hydrocephalus, Holoprosencephaly, Spina bifida ORPHA:945
Alopecia, Congenital
Sparse hair, Alopecia OMIM:300042
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Intermediate Form
Hypermelanotic macule, Mixed hypo- and hyperpigmentation of the skin, Spotty hypopigmentation, Hy... ORPHA:79399
Fixed Subaortic Stenosis
Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri... ORPHA:3092
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Ventricular septal defect, Spinal muscular atrophy, Respiratory... OMIM:253300
Waardenburg Syndrome Type 1
Hypopigmentation of hair, White eyelashes, White eyebrow, Spina bifida, Abnormal hair morphology,... ORPHA:894
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve... ORPHA:70589
Combined Oxidative Phosphorylation Deficiency 8
Death in infancy, Cardiomegaly, Congestive heart failure, Reduced left ventricular ejection fract... OMIM:614096
Alopecia-Intellectual Disability Syndrome 1
Alopecia, Alopecia universalis OMIM:203650
Cardiomyopathy, Dilated, 1R
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:613424
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Left ventricular outflow tract obstruction, Coarctation of aorta, Aort... OMIM:615779
Alopecia, Androgenetic, 1
Alopecia OMIM:109200
Vogt-Koyanagi-Harada Disease
Premature graying of hair, Vitiligo, Hypopigmented skin patches, Poliosis ORPHA:3437
Cardiomyopathy, Dilated, 1M
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:607482
Gemignani Syndrome
Hypopigmented skin patches ORPHA:2074
Piebald Trait-Neurologic Defects Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Hypopigmented... ORPHA:2885
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis, Myopathy, Low-output congestive heart failure, Hypertrophic cardi... ORPHA:91130
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Hypopigmentation of hair, Generalized hyperpigmentation, Hypopigmentat... ORPHA:33445
Loeffler Endocarditis
Abnormal cardiomyocyte morphology, Endocardial fibrosis, Cough, Abnormal morphology of the chorda... ORPHA:75566
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... ORPHA:79432
Cayler Cardiofacial Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect OMIM:125520
Atrial Septal Defect, Coronary Sinus Type
Unroofed coronary sinus, Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic compo... ORPHA:99104
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Cardiomyopathy, Dilated, 2D
Perinuclear cardiomyocyte vacuolization, Death in infancy, Tricuspid regurgitation, Cardiogenic s... OMIM:619371
Hypotrichosis 8
Ridged nail, Sparse scalp hair, Dry hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow,... OMIM:278150
Cardiomyopathy, Dilated, 1Ff
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:613286
Hidrotic Ectodermal Dysplasia
Absent eyebrow, Alopecia, Hypopigmentation of hair, Sparse eyelashes, Brittle scalp hair, Sparse ... ORPHA:189
Waardenburg Syndrome Type 2
Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, White forelock, ... ORPHA:895
Erythrokeratoderma ''En Cocardes''
Abnormality of skin pigmentation ORPHA:315
Congenital Heart Defects, Multiple Types, 2
Aortic regurgitation, Atrial fibrillation, Bicuspid aortic valve, Ventricular septal defect, Cong... OMIM:614980
Ventricular Septal Defect 1
Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect... OMIM:614429
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no... OMIM:604169
Autosomal Recessive Spastic Paraplegia Type 23
Silver-gray hair, Multiple lentigines, Vitiligo ORPHA:101003
Acropectorovertebral Dysplasia
Finger syndactyly, Camptodactyly of finger, Tarsal synostosis, Spina bifida, Triphalangeal thumb,... ORPHA:957
Homocarnosinosis
Abnormality of skin pigmentation, Abnormality of retinal pigmentation OMIM:236130
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ... ORPHA:1344
Cardiac Lipidosis, Familial
Cardiomyopathy, Congestive heart failure, Death in infancy OMIM:212080
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... OMIM:600791
Cardiomyopathy, Dilated, 2A
Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil... OMIM:611880
Chiari Malformation Type Ii
Spina bifida, Myelomeningocele, Hydrocephalus, Gray matter heterotopia, Cervical myelopathy, Syri... OMIM:207950
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Hypopigmentation of hair, Generalized hyperpigmentation ORPHA:1355
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis OMIM:601127
Nevus Comedonicus Syndrome
Abnormal hair morphology, Spina bifida occulta, Spina bifida ORPHA:64754
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Double outlet right ventricle, Coarctation of aort... ORPHA:3426
Griscelli Syndrome Type 1
Premature graying of hair, White hair, Partial albinism, Iris hypopigmentation ORPHA:79476
Aortic Arch Interruption
Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl... ORPHA:2299
Congenitally Corrected Transposition Of The Great Arteries
Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear... ORPHA:216694
Atrial Septal Defect, Ostium Primum Type
First degree atrioventricular block, Atrioventricular block, Fixed splitting of the second heart ... ORPHA:99106
Atrioventricular Septal Defect 5
Muscular ventricular septal defect, Atrioventricular canal defect, Hypoplastic left heart OMIM:614474
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome
Alopecia, Hyperpigmentation of the skin, Hypopigmented skin patches, Fingernail dysplasia, Sparse... ORPHA:2251
Waardenburg Syndrome, Type 4A
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:277580
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Cyanosis, Tricuspid regurgitation, Cardiomega... ORPHA:555874
Ossification Of The Posterior Longitudinal Ligament Of Spine
Spinal cord compression, Myelopathy OMIM:602475
Cardiomyopathy, Dilated, 1S
Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D... OMIM:613426
Congenital Myopathy 5 With Cardiomyopathy
Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Congestive heart failure, Dilat... OMIM:611705
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
14Q24.1Q24.3 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Pulmo... ORPHA:401935
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ... OMIM:601493
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Thin upper lip vermilion, Persistent fetal circulation, Tricuspid regurgita... OMIM:612863
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Tricuspid regurgitation, Splenomegaly, Congestive heart failure, ... ORPHA:2414
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Craniorachischisis
Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism ORPHA:63260
Hypertrichosis Lanuginosa Congenita
Abnormality of skin pigmentation, Generalized hirsutism, Thick eyebrow ORPHA:2222
Hypothyroidism, Congenital, Nongoitrous, 5
Thyroid agenesis, Patent foramen ovale, Elevated circulating thyroid-stimulating hormone concentr... OMIM:225250
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T3, Increased circulating free T4 concentration, Impaired sensitivity ... OMIM:188570
Thyroid Cancer, Nonmedullary, 1
Papillary thyroid carcinoma, Non-medullary thyroid carcinoma, Goiter OMIM:188550
Albinism, Oculocutaneous, Type V
Albinism OMIM:615312
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Short neck, Abnormal aortic morphology, Webbed neck, Truncus arteriosus ORPHA:2516
Isolated Anencephaly/Exencephaly
Anencephaly ORPHA:1048
Left Ventricular Noncompaction 10
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:615396
Absence Of The Pulmonary Artery
Abnormal coronary artery morphology, Cardiomegaly, Nonproductive cough, Atrial septal defect, Pat... ORPHA:980
Atrial Septal Defect, Ostium Secundum Type
Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Rig... ORPHA:99103
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
Cardiomyopathy, Dilated, 1L
Increased left ventricular end-diastolic volume, Reduced systolic function, Sudden cardiac death,... OMIM:606685
Congenital Heart Defects, Multiple Types, 5
Atrial fibrillation, Ventricular septal defect, Bicuspid aortic valve, Dilated cardiomyopathy, Do... OMIM:617912
Cardiomyopathy, Familial Hypertrophic, 8
Left atrial enlargement, Cardiac arrest, Sudden cardiac death, Congestive heart failure, T-wave i... OMIM:608751
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Focal Facial Dermal Dysplasia Type I
Absent eyelashes, Low anterior hairline, Spotty hypopigmentation, Sparse hair, Spotty hyperpigmen... ORPHA:79133
Aplasia Cutis Congenita
Facial palsy, Spinal dysraphism ORPHA:1114
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Asplenia, Abnormal lung lobation, Atrial septal de... OMIM:265380
Cardiac Valvular Dysplasia 1
Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Tricuspid ... OMIM:212093
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, White hair, Ocular albin... ORPHA:79435
Thyroid Dyshormonogenesis 2A
Decreased circulating T4 concentration, Hypothyroidism, Thyroid defect in oxidation and organific... OMIM:274500
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Right ventricular failure, Intermittent... ORPHA:324604
Cardiomyopathy, Dilated, 1B
Ventricular arrhythmia, Congestive heart failure, Dilated cardiomyopathy, Impaired myocardial con... OMIM:600884
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Wolff-Parkinson-White syndrome, Right ventricular dilatation, Hypertrophic cardiomyopathy, Tricus... OMIM:619705
Hypothyroidism, Congenital, Nongoitrous, 1
Elevated circulating thyroid-stimulating hormone concentration, Hypothyroidism, Thyroid hypoplasi... OMIM:275200
Hyperbilirubinemia, Rotor Type
Abnormality of skin pigmentation OMIM:237450
Cardiomyopathy, Dilated, 1Bb
Increased left ventricular end-diastolic volume, Dyspnea, Congestive heart failure, Dilated cardi... OMIM:612877
Hemihyperplasia, Isolated
Myelomeningocele OMIM:235000
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Heart Defects-Limb Shortening Syndrome
Atrial septal defect, Death in infancy, Ventricular septal defect, Abnormal tricuspid valve morph... ORPHA:1354
Prader-Willi Syndrome Due To Imprinting Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177910
Hypothyroidism, Congenital, Nongoitrous, 9
Decreased circulating free T4 concentration, Inappropriately normal thyroid-stimulating hormone l... OMIM:301035
Cardiomyopathy, Dilated, 1U
Increased left ventricular end-diastolic volume, First degree atrioventricular block, Congestive ... OMIM:613694
Perching Syndrome
Respiratory distress, Cyanosis, High palate, Camptodactyly, Joint contracture OMIM:617055
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Dilated car... OMIM:300580
Ebstein Malformation Of The Tricuspid Valve
Abnormal endocardium morphology, Atrial fibrillation, Sudden cardiac death, Congestive heart fail... ORPHA:1880
Genitopalatocardiac Syndrome
Right aortic arch, Double outlet right ventricle, Ventricular septal defect, Transposition of the... OMIM:231060
Caudal Duplication
Myelomeningocele, Spinal cord lesion, Spina bifida ORPHA:1756
Woolly Hair, Autosomal Recessive 3
Sparse scalp hair, Curly hair, Sparse eyelashes, Fine hair, Sparse hair, Trichorrhexis nodosa OMIM:616760
Endocardial Fibroelastosis
Cryptorchidism, Congestive heart failure, Endocardial fibroelastosis, Restrictive cardiomyopathy,... ORPHA:2022
Congenital Heart Block
Cyanosis, Crackles, First degree atrioventricular block, Pericardial effusion, Gallop rhythm, Con... ORPHA:60041
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Pulmonary artery hypopl... ORPHA:1686
Congenital Gerbode Defect
Crackles, Holosystolic murmur, Bacterial endocarditis, Abnormal tricuspid valve leaflet morpholog... ORPHA:99095
Cardiomyopathy, Dilated, 1I
Reduced systolic function, Cardiomegaly, Congestive heart failure, Dilated cardiomyopathy, Reduce... OMIM:604765
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Ventricular septal defect, Spina bifida, Cleft palate, Ectopic a... ORPHA:2345
Adams-Oliver Syndrome 6
Truncus arteriosus, Tricuspid regurgitation, Ventricular septal defect, Portal hypertension OMIM:616589
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Congestive heart failure, Dilated cardiomyopathy, Elbow flexion contr... ORPHA:206546
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Centrally nucleated skeletal muscle fibers, Cough, Limb-girdle muscle weakn... ORPHA:86812
Schisis Association
Encephalocele, Congenital diaphragmatic hernia, Anencephaly, Spina bifida ORPHA:63862
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Dextrocardia, A... ORPHA:2257
Band Heterotopia
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Lateral ventricle dilatation OMIM:600348
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Aorto-Ventricular Tunnel
Ventricular hypertrophy, Abnormal heart valve morphology, Abnormal coronary artery morphology, Ao... ORPHA:3400
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Vitiligo OMIM:619846
Stankiewicz-Isidor Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pineal cyst, Abnormal optic ... OMIM:617516
Familial Atrial Myxoma
Tricuspid regurgitation, Cardiomegaly, Pulmonic valve myxoma, Cardiac myxoma, Jaundice, Congestiv... ORPHA:615
Left Ventricular Noncompaction 8
Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ... OMIM:615373
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus OMIM:611867
Cardiomyopathy, Dilated, 1Ee
Reduced left ventricular ejection fraction, Congestive heart failure, Increased left ventricular ... OMIM:613252
Acute Interstitial Pneumonia
Nodular pattern on pulmonary HRCT, Crackles, Nonproductive cough, Tachypnea, Decreased DLCO, Peri... ORPHA:79126
Hermansky-Pudlak Syndrome 3
Hypopigmentation of hair, Hypopigmentation of the skin, Albinism OMIM:614072
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair, Blue irides, Ocular alb... OMIM:203100
Stuve-Wiedemann Syndrome 2
Respiratory distress, Congestive heart failure, Death in adolescence, Stillbirth, Camptodactyly, ... OMIM:619751
Craniofaciofrontodigital Syndrome
Respiratory distress, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly,... ORPHA:363705
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Arteria lusoria, Abnormal aortic arch morphology, Aortopulmonary window, Atrial septal defect, Pu... ORPHA:99050
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Cleft palate, Aspiration pneumonia, Micr... ORPHA:141152
Uncombable Hair Syndrome 3
Uncombable hair, Curly hair, Brittle hair, Pili canaliculi OMIM:617252
Xeroderma Pigmentosum Variant
Hypopigmentation of the skin, Freckles in sun-exposed areas, Hyperpigmentation of the skin ORPHA:90342
Cardiomyopathy, Dilated, 1J
Abnormal left ventricular function, Congestive heart failure, Dilated cardiomyopathy, Sudden card... OMIM:605362
Cardiomyopathy, Dilated, 1Dd
Left ventricular systolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Sudden c... OMIM:613172
Phace Association
Anomalous branches of internal carotid artery, Ventricular septal defect, Optic nerve hypoplasia,... OMIM:606519
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal car... ORPHA:50251
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Death in infancy, Pericardial effusion, Carious teeth, Multiple muscular ventricular septal defec... OMIM:620070
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Pendred Syndrome
Compensated hypothyroidism, Thyroid carcinoma, Goiter OMIM:274600
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Left-to-right shunt, Abnormality of the dentition, Carious teeth, Muscular ventricular septal def... ORPHA:363444
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Reduced vital capacity, Cyanosis, Orthopnea, Facial palsy, Triceps weakn... ORPHA:98913
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Wolff-Parkinson-White syndrome, Congestive heart failure, Ragged-red muscle fibers, Stroke-like e... OMIM:540000
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Generalized hypopigmentation, Irregular hyperpigmentation, Abnormal eyebrow morphology, Generaliz... ORPHA:1816
Cardiomyopathy, Familial Hypertrophic, 14
Congestive heart failure, Severely reduced left ventricular ejection fraction, Ventricular tachyc... OMIM:613251
Cardiomyopathy, Dilated, 1Kk
Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D... OMIM:615248
Albinism, Ocular, With Late-Onset Sensorineural Deafness
Giant melanosomes in melanocytes, Albinism OMIM:300650
Complete Atrioventricular Septal Defect
Crackles, Cardiomegaly, Tachypnea, Atrioventricular block, Primum atrial septal defect, Displacem... ORPHA:1329
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Congenital Tracheomalacia
Apnea, Cardiomegaly, Tracheobronchomalacia, Cough, Atrial septal defect, Emphysema, Single ventri... ORPHA:95430
Congenital Vertical Talus
Rocker bottom foot, Equinus calcaneus, Myelomeningocele, Achilles tendon contracture, Abnormality... ORPHA:178382
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism OMIM:228355
Congenital Herpes Simplex Virus Infection
Hydranencephaly ORPHA:293
Diabetic Embryopathy
Ventricular septal defect, Cryptorchidism, Hydrocephalus, Aplasia/Hypoplasia of the abdominal wal... ORPHA:1926
Heterotaxy, Visceral, 7, Autosomal
Cyanosis, Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common at... OMIM:616749
Cranioacrofacial Syndrome
Ventricular septal defect, Pulmonic stenosis OMIM:122850
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Facial palsy, Camptodactyly of finger, Increased variability in muscle fibe... OMIM:614399
Pulmonary Atresia-Intact Ventricular Septum Syndrome
Pulmonary artery atresia, Patent ductus arteriosus, Abnormal tricuspid valve morphology ORPHA:1208
Nevoid Hypermelanosis, Linear And Whorled
Hyperpigmented streaks OMIM:614323
Thyroid Cancer, Nonmedullary, 4
Goiter, Papillary thyroid carcinoma, Ovarian neoplasm OMIM:616534
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Freck... ORPHA:79434
Cardiomyopathy, Dilated, 1P
Congestive heart failure, Dilated cardiomyopathy, Reduced systolic function, Ventricular arrhythmia OMIM:609909
Atrial Septal Defect 2
Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r... OMIM:607941
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Reduced vital capacity, Internally nucleated skeletal muscle fibers, Ort... ORPHA:178464
Verheij Syndrome
Branchial cyst, Ventricular septal defect, Optic nerve hypoplasia, Short neck, Truncus arteriosus OMIM:615583
Hypothyroidism Due To Tsh Receptor Mutations
Goiter, Elevated circulating thyroid-stimulating hormone concentration, Increased radioactive iod... ORPHA:90673
Idiopathic Localized Lipodystrophy
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:90158
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Peripheral arteriovenous fistula, Pulmonary embolism, Microcytic ane... ORPHA:90308
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone con... ORPHA:99832
Cardiomyopathy, Familial Hypertrophic, 11
Atrial septal defect, Atrial flutter, Angina pectoris, Cardiac arrest, Dyspnea, Congestive heart ... OMIM:612098
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Dextrocardia, Spina bifida, Myelomeningocele, Hydrocephalus,... ORPHA:2437
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard... OMIM:618280
Genetic Transient Congenital Hypothyroidism
Abnormal radioactive iodine uptake test result, Thyroid defect in oxidation and organification of... ORPHA:226316
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Anomalous origin of left coronary artery from the pulmonary artery, Patent... OMIM:618845
Cardiomyopathy, Dilated, 1Hh
Congestive heart failure, Increased left ventricular end-diastolic volume, Dilated cardiomyopathy OMIM:613881
Sandestig-Stefanova Syndrome
Muscular ventricular septal defect, Orofacial cleft, Respiratory failure, Perimembranous ventricu... OMIM:618804
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Neonatal respiratory distress, Spinal muscular atrophy, Secundum atrial septal defect, Patent for... OMIM:616866
Cardiomyopathy, Dilated, 1V
Increased left ventricular end-diastolic volume, Atrial fibrillation, First degree atrioventricul... OMIM:613697
Pagod Syndrome
Encephalocele, Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Situs inversus to... ORPHA:991
Lissencephaly 4
Colpocephaly, Agenesis of corpus callosum OMIM:614019
Sensorineural Deafness With Dilated Cardiomyopathy
Congestive heart failure, Abnormal cardiac ventricular function, Dilated cardiomyopathy ORPHA:217622
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Prolonged QRS complex, Cardiomegaly, Pericardial effusion, Shortened... OMIM:261740
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Thyroid Dyshormonogenesis 1
Umbilical hernia, Hypothyroidism, Goiter OMIM:274400
Microphthalmia, Syndromic 9
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Hypopl... OMIM:601186
Infantile Sialic Acid Storage Disease
Cardiomegaly, Splenomegaly, Hydrocephalus, Vacuolated lymphocytes, Congestive heart failure, Ging... OMIM:269920
Obesity And Hypopigmentation
Red hair OMIM:620195
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Cardiomegaly, Asplenia, Aqueductal stenosis, Dextrotransposition of the gre... OMIM:306955
Pyknoachondrogenesis
Stillbirth OMIM:265880
Woolly Hair Nevus
Curly hair, Patchy hypopigmentation of hair, Fine hair, Woolly scalp hair, Congenital posterior o... ORPHA:79414
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Decreased response to growth hormone stimulation test, Adrenal hypopla... OMIM:220210
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Ventricula... OMIM:610978
Polymyositis
Gastrointestinal hemorrhage, Pericarditis, Abnormal atrioventricular conduction, Myocardial infar... ORPHA:732
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Abnormal tricuspid valve morphology, Bacterial endocarditis, Atrial arrhyt... ORPHA:1330
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Right ventricular hypertrophy OMIM:253700
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Skeletal muscle atrophy, Respiratory insufficiency, Tongue fasciculations, ... ORPHA:238329
Megabladder, Congenital
Ventricular septal defect, Bicuspid aortic valve, Left ventricular noncompaction cardiomyopathy, ... OMIM:618719
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Increased circulating free T4 concentration, Diabetes mellitus, Elevated circulating thyroid-stim... OMIM:274300
Attrv122I Amyloidosis
Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Abnormal enteric nervous sys... ORPHA:85451
Thyroid Lymphoma
Hyperthyroidism, Hypothyroidism, Lymphadenopathy, Broad neck, Hashimoto thyroiditis, Goiter ORPHA:97285
Pulmonary Atresia With Ventricular Septal Defect
Pulmonary artery atresia, Ventricular septal defect OMIM:178370
Neural Tube Defects, Susceptibility To
Spina bifida occulta, Hydrocephalus, Myelomeningocele, Anencephaly OMIM:182940
Double Outlet Left Ventricle
Double outlet left ventricle, Cyanosis, Ventricular septal defect, Abnormal coronary artery cours... ORPHA:3427
Criss-Cross Heart
Cyanosis, Ventricular septal defect, Tricuspid stenosis, Respiratory insufficiency, Transposition... ORPHA:1461
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Cardiac arrest, Megaloblastic anemia, Congestive heart failure, Paroxy... ORPHA:49827
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Papilledema, Bicuspid aortic valve, Ventricular septal defect, Premature th... ORPHA:371428
Cardiomyopathy, Familial Hypertrophic, 27
Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di... OMIM:618052
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
Aminopterin/Methotrexate Embryofetopathy
Encephalocele, Ventricular septal defect, Situs inversus totalis, Hydrocephalus, Meningocele, Ane... ORPHA:1908
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Death in infancy, Congestive heart failure, Flexion contracture, Respira... ORPHA:157973
Waardenburg Syndrome, Type 1
White eyelashes, Partial albinism, White eyebrow, Spina bifida, Synophrys, Myelomeningocele, Blue... OMIM:193500
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... ORPHA:1143
Primary Ciliary Dyskinesia
Atrial situs ambiguous, Asplenia, Neonatal respiratory distress, Abnormal atrial arrangement, Res... ORPHA:244
Familial Cold Autoinflammatory Syndrome 3
Vitiligo OMIM:614468
Acrocardiofacial Syndrome
Hyperthyroidism, Mitral stenosis, Ventricular septal defect, Cryptorchidism, Coarctation of aorta... ORPHA:2008
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Ventricular hypertrophy, Apnea, Congestive heart failure, Bradycardia, Left ventricular hypertrophy OMIM:619048
Cardiomyopathy, Dilated, 1Z
Congestive heart failure, Dilated cardiomyopathy, Sudden cardiac death OMIM:611879
Thoraco-Abdominal Enteric Duplication
Dextrocardia, Camptodactyly of finger, Intestinal malrotation, Diastomatomyelia, Meningocele, Res... ORPHA:1759
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Cerebral vasculitis, Leukocytosis, Limited neck flexion, Abnormal autonomic nervous system physio... ORPHA:83601
Cardiomyopathy, Familial Hypertrophic, 1
Congestive heart failure, Arrhythmia, Subvalvular aortic stenosis, Asymmetric septal hypertrophy OMIM:192600
Birk-Aharoni Syndrome
Cryptorchidism, Muscular ventricular septal defect, Macrocytic anemia OMIM:620071
Uncombable Hair Syndrome 1
Uncombable hair, Dry hair, Pili canaliculi OMIM:191480
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Congestive heart failure, Pa... ORPHA:1457
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Abnormal pulmonary valve morphology, Camptodactyly of finger, Cryptorchidism, C... ORPHA:1194
Epidermolysis Bullosa Simplex With Circinate Migratory Erythema
Generalized reticulate brown pigmentation, Nail dystrophy, Spotty hyperpigmentation, Hyperpigment... ORPHA:158681
Structural Heart Defects And Renal Anomalies Syndrome
Ventricular septal defect, Partial anomalous pulmonary venous return, Right aortic arch, Persiste... OMIM:617478
Houge-Janssens Syndrome 3
Muscular ventricular septal defect, High palate, Short philtrum, Atrial septal defect, Umbilical ... OMIM:618354
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Notched primary central incisor, Muscular ventricular septal defect OMIM:620062
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Common atrium, Right aortic arch, Hypoplastic left heart, T... OMIM:614779
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Abnormal heart valve morphology, Pulmonary embolism, Congestive heart failure, Hypertension, Arrh... ORPHA:1345
Familial Thyroid Dyshormonogenesis
Positive perchlorate discharge test, Thyroid defect in oxidation and organification of iodide, El... ORPHA:95716
Joubert Syndrome 15
Preaxial polydactyly, Exencephaly OMIM:614464
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Sandhoff Disease
Splenomegaly, Recurrent respiratory infections, Cherry red spot of the macula, Congestive heart f... ORPHA:796
Combined Oxidative Phosphorylation Deficiency 17
Death in infancy, Hypertrophic cardiomyopathy, Congestive heart failure, Death in childhood OMIM:615440
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411515
Deafness-Vitiligo-Achalasia Syndrome
Hypopigmented skin patches ORPHA:3239
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Muscular Hypertonia, Lethal
Respiratory distress, Umbilical hernia, Pneumonia, Death in infancy OMIM:254120
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Stillbirth, Aortic valve stenosis, Pulmonic stenosis,... OMIM:615415
Multifocal Atrial Tachycardia
Atrial septal defect, Atrial flutter, Tachycardia, Atrial fibrillation, Ventricular septal defect... ORPHA:3282
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Desquamative interstit... OMIM:265120
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies
Decreased thyroid-stimulating hormone level, Abnormality of thyroid physiology, Decreased circula... ORPHA:95715
Neuralgic Amyotrophy
Scapular winging, Cleft palate, Respiratory insufficiency, Narrow mouth, Acrocyanosis ORPHA:2901
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary edema, Diffuse alveolar hemorrhage, Pericardial effusion, Pulmonary capillary... ORPHA:199241
Porphyria Cutanea Tarda, Type I
Hyperpigmentation of the skin, Hypertrichosis OMIM:176090
Fetal Minoxidil Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1918
Cardiac Valvular Dysplasia, X-Linked
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Congestive heart failure, S... OMIM:314400
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... ORPHA:1145
Recombinant Chromosome 8 Syndrome
Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Low posterior hairline, Pulm... OMIM:179613
Combined Oxidative Phosphorylation Deficiency 28
Congestive heart failure, Respiratory failure, Ragged-red muscle fibers OMIM:616794
Emanuel Syndrome
Thickened nuchal skin fold, Torticollis, Ventricular septal defect, Delayed eruption of primary t... OMIM:609029
Testicular Anomalies With Or Without Congenital Heart Disease
Cryptorchidism, Tetralogy of Fallot, Testicular dysgenesis, Abnormality of thyroid physiology OMIM:615542
Odontotrichoungual-Digital-Palmar Syndrome
Hypopigmentation of the skin, Nail dystrophy, Nail dysplasia, Abnormality of hair texture OMIM:601957
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Cardiac arrest, Splenomegaly, Flexion con... ORPHA:77260
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy, Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnorm... OMIM:300614
Acatalasemia
Vitiligo ORPHA:926
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Cochlear degeneration ORPHA:3233
Lelis Syndrome
Perioral hyperpigmentation, Vitiligo ORPHA:140936
Laubry-Pezzi Syndrome
Aortic regurgitation, Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Ab... ORPHA:99094
Muscular Dystrophy, Duchenne Type
Hypoventilation, Calf muscle pseudohypertrophy, Abnormal EKG, Respiratory insufficiency due to mu... OMIM:310200
Opticocochleodentate Degeneration
Cochlear degeneration, Hearing impairment OMIM:258700
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Camptodactyly Syndrome, Guadalajara Type 1
Attached earlobe, Low-set, posteriorly rotated ears, Scapular winging, Camptodactyly of finger, S... ORPHA:1327
Cardiomyopathy, Dilated, 1K
Congestive heart failure, Dilated cardiomyopathy, Gallop rhythm OMIM:605582
Desminopathy
Sudden cardiac death, Supraventricular arrhythmia, Respiratory insufficiency due to muscle weakne... ORPHA:98909
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Hypoplasia of the cochlea, Hypoplasia of the semicircular c... ORPHA:251061
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Macroorchidism, Congestive heart failure, Hydrocephalus, Cardiomegaly OMIM:300886
Infant Acute Respiratory Distress Syndrome
Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal... ORPHA:70587
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia ORPHA:261102
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Right ventricular dilatation ORPHA:369847
Spinocerebellar Ataxia, Autosomal Recessive 3
Cochlear degeneration, Hearing impairment OMIM:271250
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B... OMIM:620067
Oculocutaneous Albinism Type 1
White eyelashes, Iris hypopigmentation, White eyebrow, Blue irides, Iris transillumination defect... ORPHA:352731
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Raynaud phenomenon, Myocarditis, Congestive ... ORPHA:206569
Combined Oxidative Phosphorylation Defect Type 23
Wolff-Parkinson-White syndrome, Cyanosis, Congestive heart failure, Severely reduced left ventric... ORPHA:444013
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Sideroblastic anemia, Respiratory insufficiency due to muscle weakness, Rag... OMIM:613561
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... ORPHA:254864
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Albinism, Ocular albinism, Freckling, Hypopigmentation of the skin, Iri... ORPHA:79431
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Thyroid nodule, Multinodular goiter, Goiter OMIM:180295
Incessant Infant Ventricular Tachycardia
Wolff-Parkinson-White syndrome, Bundle branch block, Prolonged QRS complex, Cardiac arrest, Left ... ORPHA:45453
Blepharochalasis And Double Lip
Goiter OMIM:109900
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Alopecia, Hypopigmentation of hair ORPHA:1067
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne... ORPHA:454836
Graves Disease, Susceptibility To, 1
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Increas... OMIM:275000
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Skeletal muscle atrophy, Portal hypertension, Congestive heart failure, Fle... ORPHA:367
Adams-Oliver Syndrome 4
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:615297
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Overriding aorta, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defe... ORPHA:3304
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome
Premature graying of hair, Heterochromia iridis ORPHA:66633
Cerebrocostomandibular Syndrome
Death in infancy, Neonatal respiratory distress, Ventricular septal defect, Spina bifida, Tracheo... ORPHA:1393
Sonoda Syndrome
Ventricular septal defect OMIM:270460
Uv-Sensitive Syndrome 1
Freckling, Pigmentation anomalies of sun-exposed skin OMIM:600630
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Skeletal muscle atrophy, Paradoxical respiration, Plantar flexion contractu... OMIM:620011
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Colpocephaly ORPHA:2185
Immunodeficiency 7
Vitiligo OMIM:615387
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Thickened nuchal skin fold, Tethered cord, Redundant neck skin, Mitral atresia, Patent ductus art... OMIM:618164
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Idiopathic Trachyonychia
Vitiligo ORPHA:79153
Capillary Malformation-Arteriovenous Malformation
Peripheral arteriovenous fistula, Epistaxis, Cerebral arteriovenous malformation, Abnormality of ... ORPHA:137667
Carvajal Syndrome
Congestive heart failure, Dilated cardiomyopathy ORPHA:65282
Holoprosencephaly 5
Syntelencephaly, Alobar holoprosencephaly, Hydrocephalus, Lobar holoprosencephaly, Lateral ventri... OMIM:609637
Mesoaxial Hexadactyly And Cardiac Malformation
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Pulmonic stenosis OMIM:249670
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... OMIM:605809
Pendred Syndrome
Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of the cochle... ORPHA:705
Non-Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141179
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Sinusitis, Myocardial infarction, Cough, Acrocyanosis, Abnormal pericardium morphology,... ORPHA:183
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Dyspnea, Congestive heart failure, Dilated cardiomyopathy, Ragged-red muscle fibers, Hypertension... ORPHA:1349
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Atrial flutter, Tricuspid regurgitation, Cardiomegaly, Protruding tongue, Congestive heart failur... ORPHA:324410
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Respiratory distress, Achilles tendon contracture, Proximal amyotro... ORPHA:2596
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Cryptorchidism, Respiratory insuffici... ORPHA:1166
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Mitral regurgitation, Abnormal cardiac septum morphology, Ventricular septal defect, Hydrocephalus ORPHA:83473
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Lymphopenia, Respiratory failure, Recurre... OMIM:619773
Waardenburg Syndrome, Type 3
Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature graying of hair, ... OMIM:148820
Heart Defects, Congenital, And Other Congenital Anomalies
Absent gallbladder, Hypoplastic tricuspid valve, Diabetes mellitus, Double outlet left ventricle,... OMIM:600001
Central Neurocytoma
Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Cardiomyopathy, Dilated, 2G
Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e... OMIM:619897
Bangstad Syndrome
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Pancytopenia, Goiter OMIM:210740
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure, Congestive heart failure... ORPHA:132
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
High Altitude Pulmonary Edema
Orthopnea, Tachycardia, Cyanosis, Crackles, Dyspnea, Leukocytosis, Tachypnea, Hypoxemia, Cough, P... ORPHA:330012
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Neutrophilia, Cyanosis, Crackles, Nonproductive cou... ORPHA:1302
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Microphthalmia, Syndromic 12
Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Cryptorchidis... OMIM:615524
Emanuel Syndrome
Delayed eruption of teeth, Redundant neck skin, Ventricular septal defect, Cryptorchidism, Patent... ORPHA:96170
Hypoglossia With Situs Inversus
Respiratory distress, Situs inversus totalis, Asplenia, Upper airway obstruction, High palate, Hy... OMIM:612776
Thyrocerebroretinal Syndrome
Thrombocytopenia, Goiter OMIM:274240
Dilated Cardiomyopathy With Ataxia
Prolonged QT interval, Bilateral cryptorchidism, Muscular ventricular septal defect, Dilated card... ORPHA:66634
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the gallbladder, Atr... ORPHA:2255
Anophthalmia Plus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the earlobes, Spina bifida ORPHA:1104
Neonatal Marfan Syndrome
Neonatal respiratory distress, Tricuspid regurgitation, High, narrow palate, Abnormal cardiac ven... ORPHA:284979
Anaplastic Thyroid Carcinoma
Lymphadenopathy, Anaplastic thyroid carcinoma, Nodular goiter, Broad neck, Goiter ORPHA:142
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Amish Lethal Microcephaly
Optic atrophy, Lissencephaly, Spina bifida, Limb hypertonia ORPHA:99742
Eng-Strom Syndrome
Abnormal cardiac septum morphology, Ventricular septal defect ORPHA:1937
Pulmonary Arteriovenous Malformation
Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Cough, Dyspnea, Heart murm... ORPHA:2038
Bronchogenic Cyst
Pulmonary cyst, Pneumonia, Abnormal pericardium morphology, Abnormal pleura morphology, Abnormal ... ORPHA:2357
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Congestive heart failure, Ab... ORPHA:52430
Intermediate Generalized Junctional Epidermolysis Bullosa
Scarring alopecia of scalp, Abnormality of skin pigmentation, Nail dystrophy, Anonychia, Sparse b... ORPHA:79402
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Abnormal heart valve morphology, Intestinal pseudo-obstruction, Spleno... OMIM:309900
Sirenomelia
Spina bifida, Sirenomelia ORPHA:3169
3-Methylglutaconic Aciduria, Type V
Prolonged QT interval, Noncompaction cardiomyopathy, Sudden cardiac death, Cryptorchidism, Conges... OMIM:610198
Mitochondrial Complex I Deficiency, Nuclear Type 11
Wolff-Parkinson-White syndrome, Myopathy, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:618234
Waardenburg-Shah Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Abnormal eyebrow morphology, White... ORPHA:897
Rapidly Involuting Congenital Hemangioma
Prominent superficial veins, Peripheral arteriovenous fistula, Telangiectasia of the skin, Conges... ORPHA:141184
Cardiomyopathy, Dilated, 2E
Death in infancy, Reduced systolic function, Dilated cardiomyopathy, Ebstein anomaly of the tricu... OMIM:619492
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, High, narrow palate, Wrist drop, Muscle fiber atrophy, Poor wound healing,... ORPHA:1900
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Thyroid dysgenesis, Ventricular septal defect, Thyroid agenesis, Cryptorchidism, Patent ductus ar... ORPHA:3047
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia OMIM:618254
Hermansky-Pudlak Syndrome 9
Hypopigmentation of the skin, Ocular albinism OMIM:614171
Thyrocerebrorenal Syndrome
Euthyroid goiter, Thrombocytopenia ORPHA:3327
Danon Disease
Myocardial necrosis, Wolff-Parkinson-White syndrome, Cardiomegaly, Congestive heart failure, Dila... OMIM:300257
Glucocorticoid Deficiency 5
Hyperpigmentation of the skin OMIM:617825
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Aortopulmonary collater... OMIM:617205
Long Qt Syndrome 13
Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri... OMIM:613485
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Myopathy, Cardiomyopathy ORPHA:26792
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Decreased nerve conduction ve... ORPHA:477817
Sotos Syndrome
Ventricular septal defect, Cryptorchidism, Muscular ventricular septal defect, High, narrow palat... OMIM:117550
Idiopathic Pulmonary Arterial Hypertension
Tricuspid regurgitation, Abnormal jugular vein morphology, Increased pulmonary vascular resistanc... ORPHA:275766
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Right ventricular dilatation ORPHA:369840
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration, Hyperth... OMIM:613239
Aland Island Eye Disease
Albinism OMIM:300600
Otosclerosis 10
Otosclerosis OMIM:615589
Ascher Syndrome
Hypothyroidism, Goiter ORPHA:1253
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum ORPHA:250972
Acquired Aneurysmal Subarachnoid Hemorrhage
Myocardial infarction, Cerebral hemorrhage, Congestive heart failure, Leukocytosis, Hydrocephalus... ORPHA:90065
Cardiomyopathy, Familial Hypertrophic, 29, With Polyglucosan Bodies
Sudden cardiac death, Dyspnea, Left ventricular outflow tract obstruction, Systolic anterior moti... OMIM:620236
Phenylketonuria
Generalized hypopigmentation, Fair hair, Blue irides OMIM:261600
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Tethered cord, Spinal dysraphism, Hypoplastic left heart, Aortic valve stenosis, Atrial septal de... OMIM:617660
Chronic Thromboembolic Pulmonary Hypertension
Cardiac shunt, Right ventricular failure, Pulmonary embolism, Increased pulmonary vascular resist... ORPHA:70591
Hypotrichosis With Juvenile Macular Degeneration
Sparse scalp hair, Brittle hair, Fine hair, Melanocytic nevus, Freckling, Pili torti ORPHA:1573
Uv-Sensitive Syndrome 3
Freckling OMIM:614640
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Cyanosis, Short lingual frenulum, Anomalous origin of left coronary artery ... ORPHA:2326
Cutis Laxa, Autosomal Dominant 1
Aortic regurgitation, Prematurely aged appearance, Ventricular septal defect, Progeroid facial ap... OMIM:123700
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Atrial fibrillation, Ventricular septal defect, Secundum atrial septal defect, Prolonged PR inter... OMIM:108900
Pparg-Related Familial Partial Lipodystrophy
Calf muscle pseudohypertrophy, Splenomegaly, Abnormality of skeletal muscle fiber size, Congestiv... ORPHA:79083
Heterotaxy, Visceral, 12, Autosomal
Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary artery atresia, Patent... OMIM:619702
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Crazy pavi... ORPHA:264675
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Pericardial And Diaphragmatic Defect
Meckel diverticulum, Neonatal respiratory distress, Bicuspid aortic valve, Intestinal malrotation... ORPHA:2847
Combined Oxidative Phosphorylation Deficiency 23
Congestive heart failure, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia OMIM:616198
Acrodysplasia Scoliosis
Spina bifida occulta ORPHA:2956
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Atrial septal defect, Ventricular septal defect, Parachute mitral valve, Cryptorchidism, Patent d... OMIM:618316
Isolated Thyroid-Stimulating Hormone Deficiency
Decreased thyroid-stimulating hormone level, Decreased circulating T4 concentration, Pituitary hy... ORPHA:90674
Maternally-Inherited Diabetes And Deafness
Malabsorption, Congestive heart failure, Hypertension, Arrhythmia, Hypertrophic cardiomyopathy ORPHA:225
Branchiootorenal Syndrome 1
Branchial cyst, Branchial fistula, Mixed hearing impairment, Facial palsy, Dilatated internal aud... OMIM:113650
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome
Decreased muscle mass, Tented upper lip vermilion, Facial hypotonia, Congestive heart failure, Wi... ORPHA:500533
X-Linked Centronuclear Myopathy
Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve... ORPHA:596
Thyroid Hypoplasia
Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Methemoglobinemia, Beta Type
Cyanosis, Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis, Methemoglobinemia OMIM:617973
Carnitine Deficiency, Systemic Primary
Respiratory distress, Cardiomegaly, Congestive heart failure, Myopathy, Cardiomyopathy, Mitral re... OMIM:212140
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Esophageal atresia, Muscular ventricular septal defect, Submucous cleft hard palate, Tracheoesoph... OMIM:619227
Grange Syndrome
Aortic regurgitation, Ventricular septal defect, Patent ductus arteriosus, Arterial stenosis, Hyp... ORPHA:79094
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Hypopigmentation of hair, Cafe-au-lait spot, Hypopigmentation of the skin OMIM:618541
Maffucci Syndrome
Neoplasm of the adrenal cortex, Neoplasm of the parathyroid gland, Pituitary adenoma, Ovarian neo... ORPHA:163634
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Sinoatrial block, Atrial flutter, Atrial fibrillation, Sudden cardiac death, Cardiac conduction a... ORPHA:300751
Phace Syndrome
Optic nerve hypoplasia, Cerebral arteriovenous malformation, Coarctation of aorta, Abnormal heart... ORPHA:42775
Congenital Ptosis
Cafe-au-lait spot, Long eyelashes, Piebaldism ORPHA:91411
Hypothyroidism, Congenital, Nongoitrous, 2
Thyroid agenesis, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypo... OMIM:218700
Pseudoxanthoma Elasticum
Gastrointestinal hemorrhage, Accelerated atherosclerosis, Angina pectoris, Congestive heart failu... OMIM:264800
Neurocutaneous Melanocytosis
Abnormality of retinal pigmentation, Generalized hyperpigmentation, Numerous congenital melanocyt... ORPHA:2481
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Vertebrobasilar dolichoectasia, Delayed eruption of permanent teeth, Thyroid hypoplasia, Congenit... ORPHA:521445
Familial Progressive Cardiac Conduction Defect
Bundle branch block, Heart block, Dyspnea, Congestive heart failure, Syncope, Arrhythmia ORPHA:871
Mulibrey Nanism
Dental crowding, Cardiomegaly, Congestive heart failure, Microglossia, Myocardial fibrosis, Denta... OMIM:253250
Agnathia-Otocephaly Complex
Respiratory distress, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft pala... OMIM:202650
Babesiosis
Hemolytic anemia, Myocardial infarction, Recurrent pharyngitis, Jaundice, Splenomegaly, Congestiv... ORPHA:108
Branchiootic Syndrome 1
Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea... OMIM:602588
Cirrhotic Cardiomyopathy
Prolonged QT interval, Elevated jugular venous pressure, Pulmonary edema, Left atrial enlargement... ORPHA:57777
Focal Facial Dermal Dysplasia Type Iii
Sparse lower eyelashes, Highly arched eyebrow, Abnormal hair pattern, Hypopigmented skin patches,... ORPHA:1807
Hydrocephalus, Congenital, 4
Communicating hydrocephalus, Ventriculomegaly OMIM:618667
Familial Dyskinesia And Facial Myokymia
Limb hypertonia, Dilated cardiomyopathy, Congestive heart failure, Facial myokymia ORPHA:324588
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
8p23.1 deletion syndrome
Congenital diaphragmatic hernia, Cryptorchidism, Abnormal heart morphology, Atrial septal defect,... DECIPHER:39
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Pneumothorax, Chronic pulmonary ob... ORPHA:411703
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Cardi... ORPHA:308552
Iniencephaly
Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Hydrocephalus, Myelomeningocele, An... ORPHA:63259
Ermine Phenotype
Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Irregular hyperpigmentatio... ORPHA:999
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Sparse hair, Hypopigmentation of the skin, Aplasia/Hypoplasia of the eyebrow ORPHA:261304
Isolated Hemihyperplasia
Myelomeningocele ORPHA:2128
Palmoplantar Keratoderma And Congenital Alopecia 1
Alopecia, Brittle hair, Sparse eyebrow, Leukonychia, Nail dysplasia, Sparse hair, Hyperpigmentati... OMIM:104100
Methionine Malabsorption Syndrome
White hair, Blue irides OMIM:250900
Mosaic Trisomy 9
Ventricular septal defect, Dextrocardia, Camptodactyly of finger, Abnormal heart valve morphology... ORPHA:99776
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Congestive heart failure OMIM:301021
Congenital Fibrinogen Deficiency
Tachycardia, Cyanosis, Hemorrhagic ovarian cyst, Internal hemorrhage, Splenic rupture, Gingival b... ORPHA:335
Histiocytoid Cardiomyopathy
Wolff-Parkinson-White syndrome, Cardiomegaly, Tachypnea, Ventricular tachycardia, Atrioventricula... ORPHA:137675
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Abnormality of skeletal muscle fiber size, Congestive heart failure, Polycystic ova... ORPHA:2348
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venou... ORPHA:99125
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Focal Dermal Hypoplasia
Ventricular septal defect, Camptodactyly of finger, Diastasis recti, Congenital diaphragmatic her... ORPHA:2092
Holoprosencephaly-Postaxial Polydactyly Syndrome
Encephalocele, Adrenal hypoplasia, Cryptorchidism, Hydrocephalus, Abnormal cardiac septum morphol... ORPHA:2166
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Vitiligo ORPHA:275
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Dental crowding, Narrow mouth, Microglossia, Dental malocclusion, Cl... OMIM:614669
Long Qt Syndrome 16
Patent ductus arteriosus after birth at term, T-wave alternans, Second degree atrioventricular bl... OMIM:618782
Arrhythmogenic Right Ventricular Dysplasia, Familial, 5
Right ventricular cardiomyopathy, Prolonged QRS complex, Sudden cardiac death, Congestive heart f... OMIM:604400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Decrea... ORPHA:226313
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Th... OMIM:617303
Cardiomyopathy, Dilated, 2B
Reduced left ventricular ejection fraction, Congestive heart failure, Dilated cardiomyopathy, Atr... OMIM:614672
Deafness, Autosomal Dominant 9
Cochlear degeneration, Vertigo, Tinnitus, Postlingual sensorineural hearing impairment OMIM:601369
Stiff-Person Syndrome
Vitiligo OMIM:184850
Arterial Calcification, Generalized, Of Infancy, 2
Tricuspid regurgitation, Myocardial infarction, Cardiomegaly, Coronary artery calcification, Cong... OMIM:614473
Down Syndrome
Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Complete atrioventricular ca... OMIM:190685
Hemochromatosis, Type 2A
Splenomegaly, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, Arrhythmia OMIM:602390
Fanconi Anemia, Complementation Group P
Cafe-au-lait spot, Vitiligo OMIM:613951
Mucopolysaccharidosis Type 1
Recurrent respiratory infections, Sinusitis, Abnormal heart valve morphology, Apnea, Malabsorptio... ORPHA:579
Hermansky-Pudlak Syndrome 1
Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Ocular albinism, Melanocytic n... OMIM:203300
Griscelli Syndrome Type 2
Premature graying of hair, Hypopigmentation of hair, Partial albinism, Iris hypopigmentation ORPHA:79477
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... ORPHA:380
Familial Aortic Dissection
Aortic regurgitation, Cutis marmorata, Cardiomegaly, Descending thoracic aorta aneurysm, Patent d... ORPHA:229
Pallister-Hall Syndrome
Thyroid dysgenesis, Natal tooth, Decreased circulating cortisol level, Ventricular septal defect,... OMIM:146510
Cardiomyopathy, Dilated, 1D
Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd... OMIM:601494
Classical-Like Ehlers-Danlos Syndrome Type 1
Gastrointestinal hemorrhage, Skeletal muscle atrophy, Precocious atherosclerosis, Spina bifida oc... ORPHA:230839
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo... ORPHA:226307
22Q11.2 Deletion Syndrome
Abnormal lung lobation, Abnormal aortic arch morphology, Hypoplasia of the thymus, Short philtrum... ORPHA:567
Brain-Lung-Thyroid Syndrome
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Ventricular septal defect, Abnormal... ORPHA:209905
Ventricular Septal Defect 3
Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect OMIM:614432
Fabry Disease
Angina pectoris, Angiokeratoma, Myocardial infarction, Transient ischemic attack, Congestive hear... OMIM:301500
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... ORPHA:254875
Chromosome 18Q Deletion Syndrome
Decreased response to growth hormone stimulation test, Downturned corners of mouth, Short philtru... OMIM:601808
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Agang... ORPHA:210122
Lichen Planus Pemphigoides
Hypopigmented streaks, Abnormality of the nail ORPHA:254478
Marfan Syndrome
Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Flexion contracture, High palate, ... OMIM:154700
Coenzyme Q10 Deficiency, Primary, 7
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Bradycardia, Hypertr... OMIM:616276
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Yuan-Harel-Lupski Syndrome
Ventricular septal defect, Bicuspid aortic valve, Decreased nerve conduction velocity, Aortic roo... OMIM:616652
Microcephaly-Cardiomyopathy Syndrome
Dilated cardiomyopathy, Ventricular septal defect ORPHA:2515
Morbid Obesity And Spermatogenic Failure
Congestive heart failure, Hypertension, Myocardial infarction, Premature coronary artery atherosc... OMIM:615703
Glutaric Aciduria Iii
Hyperthyroidism, Goiter OMIM:231690
Cardiomyopathy, Dilated, 1Y
Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact... OMIM:611878
Wild Type Abeta2M Amyloidosis
Gastrointestinal hemorrhage, Intestinal pseudo-obstruction, Congestive heart failure, Abnormal te... ORPHA:85446
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Congestive heart failure, Stroke-like episode, Abnormal heart morphology, Respiratory failure, Hy... ORPHA:70472
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy, Death in infancy, Respiratory distress OMIM:616974
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Apert Syndrome
Conductive hearing impairment, Hydrocephalus, Abnormal semicircular canal morphology, Sensorineur... ORPHA:87
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Thoracic aortic aneurysm, Ventricular septal defect, Dextrocardia, Asplenia, Patent ductus arteri... OMIM:619657
Leukoencephalopathy With Vanishing White Matter 5
Lateral ventricle dilatation, Dilated third ventricle OMIM:620315
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Patent ductus arteriosus, Respiratory insufficiency, Coarctation of aorta, Bilateral lung agenesi... OMIM:601612
Sea-Blue Histiocytosis
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:158029
Meckel Syndrome, Type 4
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Anencephaly, Atrial septal ... OMIM:611134
Hemochromatosis, Type 2B
Splenomegaly, Cardiomyopathy, Congestive heart failure, Anemia OMIM:613313
Congenital Left Ventricular Aneurysm
Apnea, Congestive heart failure, Abnormal ST segment, Abnormal left ventricle morphology, Abnorma... ORPHA:1055
Classic Phenylketonuria
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:79254
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Flexion contracture, Hypertension, Pulmonary hypoplasia, Left ventricular h... OMIM:616733
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Distal amyotrophy OMIM:619099
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Primary Triglyceride Deposit Cardiomyovasculopathy
Angina pectoris, Splenomegaly, Dyspnea, Vacuolated lymphocytes, Increased muscle lipid content, A... ORPHA:565612
Cutis Laxa-Marfanoid Syndrome
Emphysema, Flexion contracture, Abnormal heart valve morphology, Congenital diaphragmatic hernia ORPHA:171719
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta ORPHA:228190
Arterial Tortuosity Syndrome
Respiratory distress, Myocardial infarction, Prematurely aged appearance, Hiatus hernia, Pulmonar... ORPHA:3342
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Cardiac arrest, Myofiber disarray, Myopathy, High palate,... OMIM:604377
Naegeli-Franceschetti-Jadassohn Syndrome
Subungual hyperkeratosis, Decreased number of sweat glands, Reticulated skin pigmentation, Genera... ORPHA:69087
Subependymal Nodular Heterotopia
Occipital encephalocele, Myelomeningocele, Meningocele, Abnormality of neuronal migration, Gray m... ORPHA:101030
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Gingival fibromatosis, Gingival overgrowth, Respiratory failure, M... ORPHA:1832
Hb Bart'S Hydrops Fetalis
Pericarditis, Abnormal hemoglobin, Splenomegaly, Hydrocephalus, Congestive heart failure, Anemia ORPHA:163596
Cardiomyopathy, Dilated, 1G
Atrial fibrillation, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, A... OMIM:604145
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Prolonged QT interval, Tachycardia, Ventri... ORPHA:26793
Acquired Methemoglobinemia
Respiratory distress, Tachycardia, Cyanosis, Dyspnea, Hypoxemia, Syncope, Palpitations, Arrhythmi... ORPHA:464453
Cardiomyopathy, Familial Hypertrophic, 26
Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per... OMIM:617047
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Shock, Neutrophilia, Pneumonia, Nonproductive cough, Leukocytosis, Pneumoth... ORPHA:36238
Alg12-Cdg
Recurrent respiratory infections, Thin upper lip vermilion, Intestinal malrotation, Recurrent pha... ORPHA:79324
Treacher-Collins Syndrome
Encephalocele, Branchial fistula, Cryptorchidism, Patent ductus arteriosus, Abnormality of the ad... ORPHA:861
Meacham Syndrome
Bicuspid aortic valve, Death in childhood, Scimitar anomaly, Atrial septal defect, Diaphragmatic ... OMIM:608978
Cardiomyopathy, Dilated, 1Oo
Congestive heart failure, Dilated cardiomyopathy, Premature ventricular contraction, Second degre... OMIM:620247
Congenital Tracheal Stenosis
Respiratory distress, Ascending aorta hypoplasia, Abnormal lung morphology, Abnormal lung lobatio... ORPHA:141127
Spondylosis, Cervical
Spina bifida occulta OMIM:184300
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Reduced subcutaneous adipose tissue, Accelerated atherosclerosis, Abnormal atrioventricular condu... ORPHA:280365
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Flexion contracture, Leukopenia, Atrial septal defect, Patent foramen ovale... ORPHA:505248
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Death in infancy, Protruding tongue, Secundum atrial septal defect, Sple... OMIM:608779
Deafness, Congenital Heart Defects, And Posterior Embryotoxon
Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis OMIM:617992
Fountain Syndrome
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Spina bifida, Large h... ORPHA:3219
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Triosephosphate Isomerase Deficiency
Normocytic anemia, Skeletal muscle atrophy, Hemolytic anemia, Macrocytic anemia, Death in infancy... OMIM:615512
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:187300
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Mediastin... ORPHA:91359
Indomethacin Embryofetopathy
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:1909
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Fryns Microphthalmia Syndrome
Neural tube defect OMIM:600776
Hypoplastic Left Heart Syndrome
Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic... ORPHA:2248
16P13.11 Microduplication Syndrome
Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept... ORPHA:261243
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hyperthyroidism, Goiter OMIM:188580
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy
Atrial septal defect, Ventricular septal defect OMIM:614249
Neu-Laxova Syndrome
Skeletal muscle atrophy, Abnormal cortical gyration, Spina bifida, Pachygyria, Polymicrogyria, Fl... ORPHA:2671
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Cardiomegaly, Abnormal internal carotid artery morphology, Flexion contract... ORPHA:365
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val... ORPHA:3405
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Limb Body Wall Complex
Encephalocele, Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Spina... ORPHA:2369
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Tricuspid regurgitation, Crackles, Cough, Atelectasis, Mediastinal lymp... OMIM:620233
Distal 22Q11.2 Microduplication Syndrome
Branchial fistula, Anal atresia, Tricuspid regurgitation, Ventricular septal defect, Camptodactyl... ORPHA:261337
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Cyanosis, Central apnea ORPHA:71277
Ulnar Hemimelia
Abnormal calcification of the carpal bones, Aplasia of the 4th finger, Dislocated radial head, Ra... ORPHA:93320
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Vitiligo ORPHA:480898
Cednik Syndrome
Congestive heart failure, Stroke, Abnormality of the dentition ORPHA:66631
Waardenburg Syndrome, Type 4C
White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai... OMIM:613266
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Ebstein Anomaly
Atrial fibrillation, Sudden cardiac death, Atrial standstill, Ebstein anomaly of the tricuspid va... OMIM:224700
Cardiomyopathy, Dilated, 1O
Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycardia, Impaired myocardial co... OMIM:608569
Arterial Calcification, Generalized, Of Infancy, 1
Neonatal respiratory distress, Myocardial infarction, Cardiomegaly, Coronary artery calcification... OMIM:208000
Cardiomyopathy, Familial Hypertrophic, 6
Wolff-Parkinson-White syndrome, Atrial fibrillation, Prolonged QRS complex, Congestive heart fail... OMIM:600858
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231183
Igg4-Related Thyroid Disease
Nodular goiter, Pancreatic fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pituitary gland... ORPHA:64744
Peroxisome Biogenesis Disorder 12A (Zellweger)
Patent ductus arteriosus, Hydrocephalus, Atrial septal defect, Cholelithiasis, Double outlet righ... OMIM:614886
Cap Myopathy
Reduced systolic function, Facial palsy, Central hypoventilation, Abnormal muscle fiber morpholog... ORPHA:171881
Monosomy 18Q
Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Bilateral cry... ORPHA:1600
Classic Mycosis Fungoides
Alopecia, Irregular hyperpigmentation, Hypopigmented skin patches, Abnormality of the nail ORPHA:2584
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Hydrocephalus, Anencephaly, Ventriculomegaly OMIM:614120
Noonan Syndrome 3
Juvenile myelomonocytic leukemia, Ventricular septal defect, Cryptorchidism, Patent ductus arteri... OMIM:609942
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Apnea, Decreased response to growth hormone stimulation test, Dental crowding, Ascending aorta hy... OMIM:619503
Large Congenital Melanocytic Nevus
Abnormality of skin pigmentation, Congenital giant melanocytic nevus, Hypopigmented skin patches,... ORPHA:626
Congenital Diaphragmatic Hernia
Respiratory distress, Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia... ORPHA:2140
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to... OMIM:613759
Naxos Disease
Sudden cardiac death, Cleft upper lip, Congestive heart failure, Cardiomyopathy, Paroxysmal ventr... ORPHA:34217
Maternal Uniparental Disomy Of Chromosome X
Hypopigmentation of the skin, Low posterior hairline ORPHA:261519
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Menkes Disease
Sparse hair, Alopecia, Brittle hair, Hypopigmentation of the skin OMIM:309400
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Lichen Planopilaris
Alopecia, Onycholysis, Abnormal fingernail morphology, Hypopigmented skin patches ORPHA:525
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
American Trypanosomiasis
Aganglionic megacolon, Myocarditis, Splenomegaly, Dyspnea, Congestive heart failure, Lymphadenopa... ORPHA:3386
Tetrasomy 5P
Respiratory distress, Recurrent respiratory infections, Cyanosis, Congestive heart failure, Hydro... ORPHA:3309
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Congestive heart failure, Dilated cardiomyopathy, Facial myokymia, Limb hypertonia OMIM:606703
Darier Disease
Hypermelanotic macule, Abnormal hair morphology, Abnormality of skin pigmentation, Abnormality of... ORPHA:218
Cardiomyopathy, Familial Hypertrophic, 16
Orthopnea, Atrial fibrillation, Sudden cardiac death, Dyspnea, Ventricular tachycardia, Left bund... OMIM:613838
Venous Malformations, Multiple Cutaneous And Mucosal
Intestinal bleeding, Venous malformation OMIM:600195
Sudden Cardiac Failure, Infantile
Sudden cardiac death, Myocarditis, Congestive heart failure, Myocardial fibrosis, Bradycardia, Hy... OMIM:617222
Wildervanck Syndrome
Meningocele, Facial palsy, Pseudopapilledema, Low posterior hairline ORPHA:3456
Eisenmenger Syndrome
Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Iron deficiency anemia, Bac... ORPHA:97214
Naxos Disease
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ... OMIM:601214
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Barth Syndrome
Increased left ventricular end-diastolic volume, Tricuspid regurgitation, Cyclic neutropenia, Con... OMIM:302060
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, C... ORPHA:90646
Gm1-Gangliosidosis, Type I
Death in infancy, Abnormal heart valve morphology, Splenomegaly, Congestive heart failure, Vacuol... OMIM:230500
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Venous v... OMIM:610655
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Abnormal EKG, Abnormal atrioventricular conduction, Tachypnea, Abnormal lef... ORPHA:45452
Peroxisome Biogenesis Disorder 6A (Zellweger)
Colpocephaly OMIM:614870
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:618736
Central Core Disease
Neonatal respiratory distress, Multiple joint contractures, Respiratory insufficiency due to musc... ORPHA:597
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Cleft lip, Cleft palate,... OMIM:301022
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Aortic regurgitation, Bicuspid aortic valve, Truncus arteriosus, Spina bifida, Ventricular septal... ORPHA:508498
Trisomy 18
Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida... ORPHA:3380
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Natal tooth, Absent nipple, Aplasia of the thymus, Facial palsy, Patent foramen o... OMIM:620186
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Camptodactyly of finger, Spina bifida, Hydrocephalus, Microtia, Hydran... ORPHA:2839
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Atrial Septal Defect 1
Tetralogy of Fallot with pulmonary atresia, Bicuspid aortic valve, Ventricular septal defect, Sec... OMIM:108800
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
High palate, Atrial septal defect, Ecchymosis, Long philtrum, Tricuspid regurgitation, Hiatus her... OMIM:601776
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Unilateral cryptorchidism, Centrally nucleated skeletal m... OMIM:300219
Congenital Muscular Dystrophy With Intellectual Disability
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... ORPHA:370968
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Death in infancy, Cerebral hemorrhage, Abnormality... OMIM:620278
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Adrenal hypoplasia, Abnormal cardiac septum morphology, Stillbirth, Umbilical hernia, Thyroid hyp... OMIM:308050
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Bicuspid aortic valve, Patent ductus arteriosus, Pseudocoarctation of the aorta OMIM:604381
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment OMIM:166220
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Tracheomalacia, Atelectasis, Atrial septal d... ORPHA:896
Hyperthyroidism, Nonautoimmune
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T3, Thyr... OMIM:609152
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Abnormal heart morphology OMIM:614100
Mitochondrial Trifunctional Protein Deficiency
Hypoparathyroidism, Tricuspid regurgitation, Congestive heart failure, Rhabdomyolysis, Respirator... ORPHA:746
Feingold Syndrome Type 2
Ventricular septal defect ORPHA:391646
Al-Raqad Syndrome
Hypopigmentation of the skin OMIM:616459
Lmna-Related Cardiocutaneous Progeria Syndrome
Ventricular hypertrophy, Mitral valve calcification, Congestive heart failure, Emphysema, Prematu... ORPHA:363618
8P23.1 Duplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis ORPHA:251076
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction ORPHA:231169
Hemochromatosis, Type 1
Cardiomegaly, Splenomegaly, Congestive heart failure, Telangiectasia, Cardiomyopathy, Arrhythmia,... OMIM:235200
Chronic Actinic Dermatitis
Progressive hyperpigmentation, Hypopigmented skin patches ORPHA:330064
Distal Deletion 19P
Ventricular septal defect, Cleft palate, Short philtrum, Tricuspid valve prolapse, Umbilical hern... ORPHA:96129
Holoprosencephaly
Congenital diaphragmatic hernia, Abnormality of the spleen, Deep philtrum, Holoprosencephaly, Enc... ORPHA:2162
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Torticollis, Tethered cord, Exaggerated cupid's bow, Spina bifida, Cyst of the ductus choledochus... OMIM:619480
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Macrocytic anemia, Ventricular septal defect, Tracheomalacia, Cleft uppe... OMIM:612561
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology ORPHA:488635
Gm1 Gangliosidosis
Recurrent respiratory infections, Ventricular septal defect, Camptodactyly of finger, Splenomegal... ORPHA:354
Localized Scleroderma
Hypopigmented skin patches, Hyperpigmentation of the skin, Vitiligo ORPHA:90289
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Generalized hirsutism, Fine hair ORPHA:2221
Ectodermal Dysplasia, Hypohidrotic, With Hypothyroidism And Ciliary Dyskinesia
Abnormality of skin pigmentation, Sparse scalp hair, Nail dysplasia, Sparse eyebrow OMIM:225050
Aortic Valve Disease 1
Bicuspid aortic valve, Mitral atresia, Ventricular septal defect, Aortic valve calcification, Dou... OMIM:109730
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98795
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Accessory spleen, Death in infancy, Progeroid facial appeara... OMIM:613177
Amoebiasis Due To Entamoeba Histolytica
Intestinal obstruction, Lung abscess, Acute colitis, Abnormal pericardium morphology, Dyspnea, Le... ORPHA:67
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Narrow femoral neck, Long proximal phalanx of finger, Flat capital femoral epiphysis, Streaky met... OMIM:603546
3C Syndrome
Recurrent respiratory infections, Death in infancy, Ventricular septal defect, Abnormal mitral va... ORPHA:7
Tako-Tsubo Cardiomyopathy
Abnormal coronary artery morphology, Prolonged QTc interval, Mildly reduced left ventricular ejec... ORPHA:66529
Distal 22Q11.2 Microdeletion Syndrome
Aortic regurgitation, Branchial fistula, Ventricular septal defect, Atrial septal defect, Truncus... ORPHA:261330
Cardiomyopathy, Dilated, 2F
Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy... OMIM:619747
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ankle flexion contracture, Splenomegaly, High, narrow palate, Patent ductus... OMIM:608799
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Co... ORPHA:1335
Meconium Aspiration Syndrome
Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Abnormal... ORPHA:70588
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Redundant neck skin, Ventricular septal defect, Optic nerve hypoplasia, Cryptorchidism, Leukopeni... OMIM:301056
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Fibular Hemimelia
Bowing of the legs, Tibial bowing, Foot oligodactyly, Short tibia, Finger syndactyly, Abnormal mo... ORPHA:93323
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Swollen lip, Angioedema, Erythema, Abnormal capillary physiol... ORPHA:100057
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Splenomegaly, Anemia, Cardiomyopathy, Stroke, Neutropenia, Thrombocytopenia ORPHA:79312
Intellectual Developmental Disorder, X-Linked 103
Lateral ventricle dilatation OMIM:300982
Lambert Syndrome
Branchial anomaly, Ventricular septal defect ORPHA:1296
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir... ORPHA:98915
Cardiospondylocarpofacial Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D... OMIM:157800
Congenital Generalized Lipodystrophy
Prominent superficial veins, Congestive heart failure, Polycystic ovaries, Skeletal muscle hypert... ORPHA:528
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Abnormality of skin pigmentation, Abnormal fingernail morphology, Sparse hair, Sparse body hair ORPHA:1810
Marfan Syndrome
Skeletal muscle atrophy, Mitral valve calcification, Spontaneous pneumothorax, Dental crowding, O... ORPHA:558
Localized Epidermolysis Bullosa Simplex
Nail dystrophy, Mixed hypo- and hyperpigmentation of the skin ORPHA:79400
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Skeletal muscle atrophy, Generalized lymphadenopathy, Pulmonary embolism, I... ORPHA:3260
Diaphanospondylodysostosis
Respiratory distress, Myelomeningocele, Cleft palate ORPHA:66637
Abcd Syndrome
Neonatal death, White eyelashes, White eyebrow, Albinism OMIM:600501
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Bardet-Biedl Syndrome 16
Bronchiolitis, Recurrent respiratory infections, Respiratory distress OMIM:615993
Autoimmune Polyendocrinopathy Type 2
Alopecia, Hypopigmented skin patches ORPHA:3143
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Hip contracture, Death in infancy, Ventricular septal defect, Shoulder flexion contracture, Crypt... OMIM:210710
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Hypopigmentation of hair, Hypopigmented skin patches, Multiple cafe-au-lait spots, Freckling, Hyp... ORPHA:3214
Autoimmune Hepatitis
Vitiligo ORPHA:2137
Medullary Thyroid Carcinoma
Primary hyperparathyroidism, Lymphadenopathy, Pheochromocytoma, Elevated circulating calcitonin c... ORPHA:1332
Jacobsen Syndrome
Smooth philtrum, Recurrent respiratory infections, Death in infancy, Ventricular septal defect, I... ORPHA:2308
Feingold Syndrome Type 1
Jejunal atresia, Tricuspid stenosis, Esophageal atresia, Patent ductus arteriosus, Multiple muscu... ORPHA:391641
Aarskog-Scott Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition... ORPHA:915
Familial Gestational Hyperthyroidism
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:99819
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Tricuspid regurgitation, Abnormal dental enamel morphology, Congenital diap... ORPHA:2556
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Alg9-Cdg
Tricuspid regurgitation, Ventricular septal defect, Pericardial effusion, Abnormal heart morpholo... ORPHA:79328
Nemaline Myopathy 9
Ventricular septal defect OMIM:615731
Limited Cutaneous Systemic Sclerosis
Abnormality of skin pigmentation, Hypopigmented skin patches ORPHA:220402
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature
Ventricular septal defect, Patent ductus arteriosus, Peripheral arterial stenosis, Sinus bradycar... OMIM:126320
Cardiac Conduction Disease With Or Without Dilated Cardiomyopathy
Atrial flutter, Tachycardia, Atrial fibrillation, Cardiac arrest, Congestive heart failure, Dilat... OMIM:616117
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Jaundice, Methemoglobinemia, Anemia OMIM:613977
Wild Type Attr Amyloidosis
Abnormal EKG, Myocardial infarction, Congestive heart failure, Abnormal pulmonary interstitial mo... ORPHA:330001
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Pigmentary retinopathy, Vitiligo OMIM:240300
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Alopecia, Hypermelanotic macule, Hypomelanotic macule, Nail dystrophy, Freckling, Alopecia of scalp OMIM:618373
Distal Deletion 10Q
Scapular winging, Congenital sensorineural hearing impairment, Spina bifida occulta, Cochlear mal... ORPHA:96148
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Hyperthyroidism, Thyrotoxicosis with diffuse goiter, Activating thyroid-stimulating hormone recep... ORPHA:424
Parkes Weber Syndrome
Prominent superficial blood vessels, Peripheral arteriovenous fistula, Subarachnoid hemorrhage, C... ORPHA:90307
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid regurgitation, Camptodactyly of finger, Hypoplasia of the musculature, Cryptorchidism, ... ORPHA:1101
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome
Abnormal pleura morphology, Crackles, Portal hypertension, Dyspnea, Myocardial fibrosis, Hepatosp... ORPHA:210136
Hereditary Bullous Dystrophy, Macular Type
Alopecia, Congenital abnormal hair pattern, Spotty hypopigmentation, Atrichia, Nail dystrophy, Hy... ORPHA:1867
Feingold Syndrome 2
Ventricular septal defect OMIM:614326
Diamond-Blackfan Anemia 10
Respiratory distress, Macrocytic anemia, Ventricular septal defect, Congenital diaphragmatic hern... OMIM:613309
Muscle-Eye-Brain Disease
Hydrocephalus, Meningocele, Optic atrophy, Holoprosencephaly ORPHA:588
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Dyspnea, Congestive heart failure, Rhabdomyolysis, Car... ORPHA:26791
Hereditary Methemoglobinemia
Lip discoloration, Cyanosis, Methemoglobinemia, Exertional dyspnea ORPHA:621
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Prematurely aged appearance, Miscarriage, My... ORPHA:902
Fabry Disease
Conjunctival telangiectasia, Bundle branch block, Atrioventricular block, Emphysema, Angiokeratom... ORPHA:324
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Phakomatosis Pigmentovascularis
Generalized hyperpigmentation, Hypopigmented skin patches ORPHA:2875
Neu-Laxova Syndrome 2
Low-set ears, Lissencephaly, Spina bifida OMIM:616038
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Thin upper lip vermilion, ... OMIM:615042
Faciocardiorenal Syndrome
Cleft palate, Endocardial fibroelastosis, Hypodontia, Tricuspid valve prolapse, Narrow mouth, Smo... ORPHA:1973
Congenital Laryngeal Web
Respiratory distress, Stridor, Abnormal cardiac septum morphology ORPHA:2374
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment OMIM:166200
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Congestive heart failure, Fl... ORPHA:682
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Recurrent respiratory infections, Respiratory distr... OMIM:211530
Kawasaki Disease
Glossitis, Pericarditis, Abnormal heart valve morphology, Myocarditis, Jaundice, Recurrent pharyn... ORPHA:2331
Cowden Syndrome 5
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615108
Rubinstein-Taybi Syndrome 1
Respiratory distress, Dental crowding, Bilateral cryptorchidism, High, narrow palate, Flexion con... OMIM:180849
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc... OMIM:178600
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Atelectasis, Hypersensitivity pneumonitis, Leukocytosis, Hypereosinophilia, Nonproducti... ORPHA:2902
Pediatric-Onset Graves Disease
Puberty and gonadal disorders, Splenomegaly, Thyrotoxicosis with diffuse goiter, Increased circul... ORPHA:525731
Cardiomyopathy, Dilated, 1A
Atrial flutter, Atrial fibrillation, Sudden cardiac death, First degree atrioventricular block, P... OMIM:115200
Neu-Laxova Syndrome 1
Hydranencephaly, Ventricular septal defect, Spina bifida, Swollen lip, Cleft upper lip, Cryptorch... OMIM:256520
Humero-Radial Synostosis
Aplasia/Hypoplasia of the thumb, Meningocele, Tarsal synostosis ORPHA:3265
Mitochondrial Complex I Deficiency, Nuclear Type 20
Death in infancy, Congestive heart failure, Dilated cardiomyopathy, Stroke, Death in childhood, H... OMIM:611126
Ciliary Dyskinesia, Primary, 20
Atrial situs inversus, Recurrent respiratory infections, Ventricular septal defect, Dextrocardia,... OMIM:615067
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation ORPHA:101071
Aneurysm Of Sinus Of Valsalva
Aortic regurgitation, Dyspnea, Congestive heart failure, Heart murmur, Stroke, Bacterial endocard... ORPHA:1054
Peroxisome Biogenesis Disorder 8A (Zellweger)
Ventricular septal defect OMIM:614876
Griscelli Syndrome
Encephalocele, Abnormal eyebrow morphology, Abnormal eyelash morphology, Silver-gray hair, Hydroc... ORPHA:381
Esophageal Atresia
Respiratory distress, Bronchitis, Aspiration, Barrett esophagus, Cleft lip, Episodic respiratory ... ORPHA:1199
Cardiomyopathy, Dilated, 1Nn
Increased left ventricular end-diastolic volume, Congestive heart failure, Abnormal ST segment, D... OMIM:615916
Tularemia
Respiratory distress, Tachycardia, Pneumonia, Mediastinal lymphadenopathy, Leukocytosis, Cervical... ORPHA:3392
Presynaptic Congenital Myasthenic Syndromes
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:98914
Congenital Myasthenic Syndrome
Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi... ORPHA:590
Digeorge Syndrome
Parathyroid agenesis, Cholelithiasis, Decreased circulating parathyroid hormone level, Ventricula... OMIM:188400
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Sudden episodic apnea, Rhabdomyolysis, Ventricular tachycardia, Respiratory insufficien... ORPHA:159
Meckel Syndrome 14
Occipital encephalocele, Cyanosis, Tricuspid regurgitation, Pneumothorax, Cardiorespiratory arres... OMIM:619879
Lipodystrophy, Familial Partial, Type 6
Hypopigmentation of the skin OMIM:615980
Aortic Aneurysm, Familial Thoracic 9
Atrial fibrillation, Thoracic aortic aneurysm, Dural ectasia, Mitral valve prolapse, High palate,... OMIM:616166
Autosomal Dominant Coarctation Of Aorta
Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m... ORPHA:1455
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypopigmented skin patches ORPHA:1825
Ventriculomegaly With Defects Of The Radius And Kidney
Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation OMIM:602200
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Myocardial... ORPHA:60033
Spondyloenchondrodysplasia With Immune Dysregulation
Hypopigmented skin patches on arms, Hypermelanotic macule, Vitiligo OMIM:607944
Sarcoidosis, Susceptibility To, 2
Facial palsy, Mediastinal lymphadenopathy, Splenomegaly, Pneumothorax, Dyspnea, Bronchiectasis, A... OMIM:612387
Cardiogenic Shock
Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction... ORPHA:97292
Acquired Idiopathic Sideroblastic Anemia
Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom... ORPHA:75564
Fadd-Related Immunodeficiency
Pulmonary artery atresia, Ventricular septal defect ORPHA:306550
Wolcott-Rallison Syndrome
Neonatal insulin-dependent diabetes mellitus, Central hypothyroidism, Iron deficiency anemia, Lym... ORPHA:1667
Cardiomyopathy, Familial Hypertrophic, 10
Sudden cardiac death, Dyspnea, Ventricular tachycardia, Ventricular septal hypertrophy, Asymmetri... OMIM:608758
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Sh... ORPHA:466791
Hydrops Fetalis, Nonimmune
Congestive heart failure, Anemia OMIM:236750
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Oral ulcer, Facial erythema, Vasculitis in the skin, Recurrent lower... OMIM:620321
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary... ORPHA:79127
Mosaic Trisomy 20
Ventricular septal defect, Cryptorchidism, Abnormal spinal cord morphology, Dysplastic tricuspid ... ORPHA:1724
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Widely spaced teeth, High palate, Microdontia, Atrial septal defect, Bifid... OMIM:612474
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma
Death in early adulthood, Congestive heart failure, Dilated cardiomyopathy, Ventricular tachycard... OMIM:605676
Immunodeficiency, Common Variable, 8, With Autoimmunity
Vitiligo OMIM:614700
Refsum Disease, Classic
Cardiomegaly, Congestive heart failure, Cardiomyopathy, Arrhythmia, Limb muscle weakness OMIM:266500
Arrhythmogenic Right Ventricular Dysplasia, Familial, 8
Right ventricular cardiomyopathy, Sudden cardiac death, Congestive heart failure, Ventricular tac... OMIM:607450
Slc35A1-Cdg
Respiratory distress, Subcutaneous hemorrhage, Pneumonia, Giant platelets, Hypoxemia, Neutropenia... ORPHA:238459
Attenuated Chédiak-Higashi Syndrome
Generalized hypopigmentation, Ocular albinism ORPHA:352723
Isolated Dandy-Walker Malformation
Encephalocele, Tetralogy of Fallot ORPHA:217
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn... ORPHA:91387
Intellectual Developmental Disorder, Autosomal Recessive 73
Patent ductus arteriosus, Ventricular septal defect OMIM:619717
Cowden Syndrome 6
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Thyroid adenoma, Hypothyroidism, Go... OMIM:615109
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Joint contracture OMIM:617977
Autosomal Recessive Spastic Paraplegia Type 66
Colpocephaly ORPHA:401815
Familial Cutaneous Collagenoma
Atrial septal defect, Cardiomyopathy, Angina pectoris, Congestive heart failure ORPHA:53296
Albinism, Oculocutaneous, Type Vii
Iris transillumination defect, Albinism OMIM:615179
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, Sensorineural hearing impairment, Distal amyotr... OMIM:609136
Craniosynostosis 6
Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Dandy-Walker mal... OMIM:616602
Meckel Syndrome, Type 2
Encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Meningocele, Anencephaly, Po... OMIM:603194
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Recurrent respiratory infections, Sinusitis, Dextrocardia, Situs inversus t... OMIM:606763
Muenke Syndrome
Hypopigmentation of hair, Hypopigmented skin patches, Hypermelanotic macule ORPHA:53271
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Flexion contracture, Muscle fiber atrophy, Aspiration, Hypoventilation, Facial palsy, A... ORPHA:258
Chromosome 17P13.1 Deletion Syndrome
Posteriorly rotated ears, Spina bifida, Hydrocephalus, Elbow flexion contracture, Knee flexion co... OMIM:613776
Right Atrial Isomerism
Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri... OMIM:208530
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Muscular ventricular septal defect, Intrinsic hand muscle atrophy OMIM:618569
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test... ORPHA:363958
Hermansky-Pudlak Syndrome 6
Hypopigmentation of the skin, Ocular albinism, Albinism OMIM:614075
Weill-Marchesani Syndrome
Ventricular septal defect, Mitral regurgitation, Aortic valve stenosis, Pulmonic stenosis ORPHA:3449
Wrinkly Skin Syndrome
Delayed eruption of teeth, Scapular winging, Hypoplasia of the musculature, Progeroid facial appe... OMIM:278250
Angelman Syndrome Due To A Point Mutation
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:411511
Hallermann-Streiff Syndrome
Recurrent respiratory infections, Natal tooth, Selective tooth agenesis, Spina bifida, Cryptorchi... OMIM:234100
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:614262
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Holoprosencephaly, Anterior encephalocele OMIM:601357
Catel-Manzke Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:1388
Thrombocytopenia-Absent Radius Syndrome
Death in infancy, Meckel diverticulum, Ventricular septal defect, Shoulder muscle hypoplasia, Eos... OMIM:274000
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
2,4-Dienoyl-Coa Reductase Deficiency
Hydrocephalus, Ventriculomegaly, Colpocephaly OMIM:616034
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Atrial septal defect, Ventricular septal defect OMIM:608227
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Malabsorption, Mult... OMIM:615508
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Ventricular septal defect, Optic nerve hypoplasia, S... ORPHA:508488
Diamond-Blackfan Anemia 1
Macrocytic anemia, Ventricular septal defect, Tricuspid stenosis, Congenital hypoplastic anemia, ... OMIM:105650
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Hypertrophic cardiomyopathy, Ventricular septal defect, Bradycardia OMIM:616277
Mitochondrial Trifunctional Protein Deficiency 1
Congestive heart failure, Rhabdomyolysis, Dilated cardiomyopathy, Respiratory insufficiency, Myop... OMIM:609015
Waldenström Macroglobulinemia
Normocytic anemia, Gastrointestinal hemorrhage, Cutis marmorata, Epistaxis, Abnormality of neutro... ORPHA:33226
Trisomy 20P
Thick hair, Spina bifida, Highly arched eyebrow, Low anterior hairline, Low posterior hairline, C... ORPHA:261318
Giant Cell Arteritis
Pericarditis, Mediastinal lymphadenopathy, Vasculitis, Optic atrophy, Aortic dissection, Diabetes... ORPHA:397
Gaucher Disease, Perinatal Lethal
Respiratory distress, Everted upper lip vermilion, Apnea, Cardiomegaly, Thrombocytopenia, Splenom... OMIM:608013
Mmep Syndrome
Ventricular septal defect ORPHA:3434
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:620066
Cardiomyopathy, Familial Hypertrophic, 21
Atrial fibrillation, Myofiber disarray, Mitral valve prolapse, Left ventricular hypertrophy, Hype... OMIM:614676
Waardenburg Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Synophrys, Myelomeningocele, Hypopigmented... ORPHA:3440
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Lateral ventricle dilatation OMIM:619972
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Congenital diaphragmatic hernia, Aplasia/hypoplasia of the humerus, Aplasia/Hy... ORPHA:2141
Neuronal Intestinal Pseudoobstruction
Natal tooth, Congenital diaphragmatic hernia, Malabsorption, Patent ductus arteriosus, Abnormal c... ORPHA:99811
Lissencephaly Syndrome, Norman-Roberts Type
Atrial septal defect, Hypoplastic spleen, Patent foramen ovale, Respiratory distress ORPHA:89844
Loeys-Dietz Syndrome 4
Torticollis, Broad uvula, Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arte... OMIM:614816
Dk1-Cdg
Congestive heart failure, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Interstitial cardiac... ORPHA:91131
Oculopharyngodistal Myopathy 1
Respiratory distress, Paroxysmal atrial fibrillation, Autophagic vacuoles, Facial palsy, Hypercap... OMIM:164310
Spondyloenchondrodysplasia
Vitiligo ORPHA:1855
Familial Isolated Restrictive Cardiomyopathy
Recurrent respiratory infections, Orthopnea, Pulmonary edema, Atrial fibrillation, Left atrial en... ORPHA:75249
White-Sutton Syndrome
Vitiligo ORPHA:468678
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Arterial dissection, Prematurely aged appearance, Poor wound healing, Hi... ORPHA:287
Sacral Defect With Anterior Meningocele
Myeloschisis, Tethered cord, Myelomeningocele, Hydrocephalus, Meningocele, Dermal sinus tract, Hy... OMIM:600145
Acute Lung Injury
Respiratory distress, Shock, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal... ORPHA:178320
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamartoma of to... OMIM:269860
Ciliary Dyskinesia, Primary, 40
Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted inferior vena ca... OMIM:618300
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Tethered cord, Pulmonic stenosis, Facial telangiectasia OMIM:620141
Bor Syndrome
Branchial cyst, Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, ... ORPHA:107
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, Hypoplasia of the thymus, High palate, Neu... OMIM:612541
Simple Cryoglobulinemia
Gastrointestinal hemorrhage, Pericarditis, Myocardial infarction, Raynaud phenomenon, Congestive ... ORPHA:91139
Alstrom Syndrome
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Diabetes i... OMIM:203800
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Wide mouth, Widely spaced teeth OMIM:300934
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Alg3-Cdg
Neural tube defect, Hypopigmentation of the skin, Dandy-Walker malformation ORPHA:79321
Isolated Posterior Meningocele
Tethered cord, Hydrocephalus, Lipomyelomeningocele, Meningocele, Neural tube defect, Hydromyelia,... ORPHA:268810
Spinal Arteriovenous Metameric Syndrome
Angiokeratoma, Congestive heart failure, Abnormal spinal cord morphology, Spinal arteriovenous ma... ORPHA:53721
Cowden Syndrome 1
Hyperthyroidism, Thyroiditis, Hydrocele testis, Ovarian cyst, Ovarian carcinoma, Thyroid adenoma,... OMIM:158350
Heterotaxy, Visceral, 2, Autosomal
Dextrocardia, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left atrial isomer... OMIM:605376
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Dilated cardiomyopathy, Tachypnea, Respiratory insufficie... OMIM:614299
Acyl-Coa Dehydrogenase 9 Deficiency
Sudden cardiac death, Congestive heart failure, Cerebellar hemorrhage, Dilated cardiomyopathy, My... ORPHA:99901
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Right atrial isomerism, Ventricular septal defect, Dextrocardia, Asplenia, ... OMIM:270100
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Recurrent respiratory infections, Tented upper lip vermilion, Flexion contr... OMIM:619383
Nail-Patella Syndrome
Biceps aplasia, Spina bifida, Absence of pectoralis minor muscle, Triceps aplasia, Sensorineural ... OMIM:161200
Combined Oxidative Phosphorylation Deficiency 22
Pulmonary arterial hypertension, Congestive heart failure OMIM:616045
Von Willebrand Disease
Abnormal mitral valve morphology, Venous insufficiency ORPHA:903
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog... ORPHA:2211
Fanconi Anemia
Leukopenia, High palate, Atrial septal defect, Spina bifida, Aplasia/Hypoplasia of the uvula, Cry... ORPHA:84
Carney Complex, Type 1
Multiple lentigines, Red hair, Freckling, Profuse pigmented skin lesions, Hirsutism OMIM:160980
Q Fever
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Pericardial effus... ORPHA:781
Schimke Immuno-Osseous Dysplasia
Transient ischemic attack, Thrombocytopenia, Congestive heart failure, Stroke, Abnormal primary m... ORPHA:1830
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Tarp Syndrome
Extramedullary hematopoiesis, Cyanosis, Apnea, Cryptorchidism, Pierre-Robin sequence, Alveolar ri... ORPHA:2886
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome
Venous insufficiency, Congestive heart failure, Ovarian neoplasm, Excessive wrinkled skin, Arteri... ORPHA:137608
Phakomatosis Pigmentokeratotica
Patchy alopecia, Spina bifida, Melanocytic nevus ORPHA:2874
Branchiogenic Deafness Syndrome
Branchial cyst, Branchial fistula, Mixed hearing impairment, Abnormal pinna morphology, Abnormali... ORPHA:50815
Turnpenny-Fry Syndrome
Aortic regurgitation, Recurrent respiratory infections, Torticollis, Thin upper lip vermilion, Fa... OMIM:618371
Diffuse Cutaneous Systemic Sclerosis
Telangiectasia of the skin, Malabsorption, Carious teeth, Dyspnea, Congestive heart failure, Flex... ORPHA:220393
Oculoauriculofrontonasal Syndrome
Encephalocele, Ventricular septal defect ORPHA:398156
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis, Respiratory insufficiency OMIM:610773
Hypomelanosis Of Ito
Macular hypopigmented whorls, streaks, and patches, Alopecia OMIM:300337
Bronchial Neuroendocrine Tumor
Tricuspid regurgitation, Pneumonia, Abnormal pulmonary valve cusp morphology, Chronic noninfectio... ORPHA:97287
Pontocerebellar Hypoplasia, Type 12
Lateral ventricle dilatation OMIM:618266
Lethal Recessive Chondrodysplasia
Respiratory distress, Macroglossia ORPHA:1423
Hereditary Hemorrhagic Telangiectasia
Conjunctival telangiectasia, Abnormal cerebral vascular morphology, Retinal telangiectasia, Micro... ORPHA:774
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, High... OMIM:220110
Pallister-Hall Syndrome
Adrenal hypoplasia, Gonadotropin deficiency, Holoprosencephaly, Atrial septal defect, Atrioventri... ORPHA:672
Proteus Syndrome
Spinal cord compression, Splenomegaly, Open mouth, Venous malformation OMIM:176920
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Epidermodysplasia Verruciformis
Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:302
Malaria
Anemia, Respiratory distress, Thrombocytopenia ORPHA:673
Noonan Syndrome
Low-set, posteriorly rotated ears, Aplasia of the semicircular canal, Sensorineural hearing impai... ORPHA:648
Charge Syndrome
Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi... OMIM:214800
Aprosencephaly Syndrome
Aprosencephaly, Anencephaly OMIM:207770
Familial Idiopathic Dilatation Of The Right Atrium
Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid regurgitation, A... ORPHA:1677
Glucocorticoid Deficiency 2
Hyperpigmentation of the skin OMIM:607398
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Ventricular septal defect, Respiratory failure, Pulmonary hypoplasia, Long ... OMIM:617895
Hypotonia, Infantile, With Psychomotor Retardation
Lateral ventricle dilatation OMIM:616816
Neurofibromatosis, Type I
Inguinal freckling, Spina bifida, Aqueductal stenosis, Hydrocephalus, Axillary freckling, Multipl... OMIM:162200
Campomelic Dysplasia
Respiratory distress, Irregular dentition, Neonatal respiratory distress, Apnea, Spina bifida, Ca... OMIM:114290
Timothy Syndrome
Prolonged QT interval, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Ventric... OMIM:601005
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Late-Onset Isolated Acth Deficiency
Vitiligo ORPHA:199299
Meacham Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Situs inversus totalis, Abnormality o... ORPHA:3097
Sepsis In Premature Infants
Tachycardia, Cyanosis, Abnormal mucociliary clearance, Thrombocytopenia, Jaundice, Leukocytosis, ... ORPHA:90051
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent duc... ORPHA:2519
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Mucolipidosis Ii Alpha/Beta
Aortic regurgitation, Diastasis recti, Cardiomegaly, Splenomegaly, Myelopathy, Recurrent pneumoni... OMIM:252500
Cardiomyopathy, Familial Hypertrophic, 13
Atrial fibrillation, Angina pectoris, Dyspnea, Concentric hypertrophic cardiomyopathy, Biventricu... OMIM:613243
Noonan Syndrome 12
Tetralogy of Fallot, Ventricular septal defect, Supravalvular aortic stenosis OMIM:618624
Melas
Pigmentary retinopathy, Vitiligo ORPHA:550
Congenital Tricuspid Stenosis
Tricuspid regurgitation, Tricuspid stenosis, Congestive heart failure, Heart murmur, Bacterial en... ORPHA:95459
Blepharocheilodontic Syndrome 1
Neural tube defect, Nail dysplasia, Small nail, Sparse hair, High anterior hairline, Distichiasis OMIM:119580
Dislocation Of The Hip-Dysmorphism Syndrome
Patent ductus arteriosus, Abnormal cardiac septum morphology, Abnormal tricuspid valve morphology... ORPHA:2412
14Q11.2 Microdeletion Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:261120
Thyroid Ectopia
Abnormality of the thyroid gland, Umbilical hernia, Hypothyroidism, Ectopic thyroid ORPHA:95712
Dominant Beta-Thalassemia
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231226
Collagenoma, Familial Cutaneous
Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Primary testicula... OMIM:115250
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Pancytopenia, Hyperthyroidism, Macroorchidism, Elevated circulat... ORPHA:562
Lymphatic Malformation 7
Respiratory distress, Pericardial effusion, Varicose veins, Chylothorax, Atrial septal defect, Pl... OMIM:617300
Viss Syndrome
Tortuous cerebral arteries, Epidural hemorrhage, Right ventricular dilatation, Atrial septal defe... OMIM:619472
16P12.1P12.3 Triplication Syndrome
Tachycardia, Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, Hig... ORPHA:485405
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Dental crowding, Short lingual frenulum, Myocardial infarcti... ORPHA:740
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Axial muscle stiffness ORPHA:240085
Joubert Syndrome 18
Occipital encephalocele, Ventricular septal defect OMIM:614815
Mucopolysaccharidosis Type 2
Communicating hydrocephalus, Otosclerosis, Spinal cord compression, Sensorineural hearing impairm... ORPHA:580
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Situs inversus totalis, Holoprosencephaly, Narrow mouth, Microglossia ORPHA:990
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Tented upper lip vermilion, Apnea, Deep philtrum, Recurren... ORPHA:314655
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly OMIM:613443
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cerebral arteriovenous malformation, Tongue telangiectasia, Spinal a... OMIM:600376
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation
Ventricular septal defect OMIM:209770
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect OMIM:235750
Dowling-Degos Disease
Inguinal freckling, Abnormal fingernail morphology, Mixed hypo- and hyperpigmentation of the skin... ORPHA:79145
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Villous atrophy, Medial calcification of large arteries, T lymphocytopenia, Patent foramen ovale,... ORPHA:391487
Congenital Aortic Valve Stenosis
Angina pectoris, Thoracic aortic aneurysm, Sudden cardiac death, Aortic valve calcification, Aort... ORPHA:3093
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Multiple joint contractures, High palate, Microdontia, Repeated pneumothora... ORPHA:536467
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Pneumonia, Situs inversus totalis, Atelectasis, Asplenia, Bronchiect... OMIM:244400
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, High-output congestive heart ... ORPHA:423
Thiamine-Responsive Megaloblastic Anemia Syndrome
Ventricular septal defect, Situs inversus totalis, Cardiomyopathy, Stroke, Atrial septal defect, ... OMIM:249270
Autoimmune Hemolytic Anemia, Warm Type
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Jaundice, Congestive heart failure, Chron... ORPHA:90033
Pseudotrisomy 13 Syndrome
Encephalocele, Ventricular septal defect, Dextrocardia, Cleft upper lip, Complete atrioventricula... OMIM:264480
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
10Q22.3Q23.3 Microdeletion Syndrome
Intestinal polyposis, Patent ductus arteriosus, Breast aplasia, Tricuspid valve prolapse, Atriove... ORPHA:276413
Noonan Syndrome With Multiple Lentigines
Abnormal endocardium morphology, Bundle branch block, Scapular winging, Abnormal pulmonary valve ... ORPHA:500
Lumbar Syndrome
Myelomeningocele, Spina bifida ORPHA:83628
Multiple Endocrine Neoplasia, Type Iia
Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Increased circulating cor... OMIM:171400
Glycogen Storage Disease Ii
Wolff-Parkinson-White syndrome, Recurrent respiratory infections, Right axis deviation, Subarachn... OMIM:232300
Maternal Phenylketonuria
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Hypoplastic left hear... ORPHA:2209
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Congestive heart failure, Hydrocephalus, Respiratory failure... OMIM:616482
X-Linked Intellectual Disability, Nascimento Type
Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Patent fora... ORPHA:163956
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Thin upper lip vermilion, Long philtrum OMIM:614741
Vacterl With Hydrocephalus
Microtia, third degree, Spina bifida, Aqueductal stenosis, Hydrocephalus, Anotia, Abnormality of ... ORPHA:3412
Symptomatic Form Of Hfe-Related Hemochromatosis
Decreased muscle mass, Portal hypertension, Cardiomegaly, Splenomegaly, Congestive heart failure,... ORPHA:465508
Congenital Lipomatous Overgrowth, Vascular Malformations, And Epidermal Nevi
Tethered cord, Sandal gap, Macrodactyly, Spinal dysraphism OMIM:612918
Non-Functioning Paraganglioma
Cerebral hemorrhage, Congestive heart failure, Flushing, Palpitations, Positive regitine blocking... ORPHA:94080
Vitamin K Antagonist Embryofetopathy
Myelomeningocele, Hydrocephalus, Macroglossia, Microtia, Hearing impairment ORPHA:1914
Phaver Syndrome
Ventricular septal defect, Myelomeningocele, Hypoplastic aortic arch, Coarctation of aorta, Pulmo... ORPHA:2876
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormality of the philtrum, Aplasia/Hypo... ORPHA:2759
Bardet-Biedl Syndrome 19
Ventricular septal defect, Partial atrioventricular canal defect, Patent ductus arteriosus, Hypop... OMIM:615996
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Orofacial cleft, Downturned corners of mouth, Abnormal tricuspid valv... ORPHA:1507
Acute Adrenal Insufficiency
Hyperpigmentation of the skin, Vitiligo ORPHA:95409
Joubert Syndrome 14
Encephalocele, Ventricular septal defect, Hydrocephalus, Meningocele, Intracranial hemorrhage, Hy... OMIM:614424
Crouzon Syndrome
Hydrocephalus, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus ORPHA:207
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation ORPHA:306669
Enlarged Parietal Foramina
Occipital encephalocele, Cleft lip, Myelomeningocele, Cleft palate, Abnormal cerebral vein morpho... ORPHA:60015
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Atria... OMIM:618652
Pontocerebellar Hypoplasia, Type 7
Hydrocephalus, Synophrys, Optic atrophy, Hirsutism, Hypopigmentation of the skin, Ventriculomegaly OMIM:614969
Hypocomplementemic Urticarial Vasculitis
Abnormal heart valve morphology, Pericardial effusion, Splenomegaly, Angioedema, Emphysema, Dyspn... ORPHA:36412
17Q24.2 Microdeletion Syndrome
Progressive conductive hearing impairment, Otosclerosis, Microtia, Recurrent otitis media ORPHA:529962
Mucopolysaccharidosis Type 2, Severe Form
Otosclerosis, Camptodactyly of finger, Spinal cord compression, Sensorineural hearing impairment,... ORPHA:217085
Atransferrinemia
Congestive heart failure, Hypochromic anemia OMIM:209300
Listeriosis
Respiratory distress, Pericarditis, Miscarriage, Pneumonia, Myocarditis, Jaundice, Rhabdomyolysis... ORPHA:533
Lambotte Syndrome
Ventricular septal defect, Semilobar holoprosencephaly OMIM:245552
Martsolf Syndrome 2
Lateral ventricle dilatation OMIM:619420
Beta-Thalassemia Major
Hypoparathyroidism, Extramedullary hematopoiesis, Decreased mean corpuscular hemoglobin concentra... ORPHA:231214
Drug-Induced Autoimmune Hemolytic Anemia
Autoimmune hemolytic anemia, Tachycardia, Splenomegaly, Congestive heart failure, Exertional dyspnea ORPHA:90037
Ethylene Glycol Poisoning
Prolonged QT interval, Shock, Tachycardia, Cyanosis, Gastritis, Facial palsy, Atrial fibrillation... ORPHA:31826
Cloacal Exstrophy
Spina bifida, Myelomeningocele, Abnormal tibia morphology, Absent foot, Abnormal fibula morpholog... ORPHA:93929
Xk Aprosencephaly Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:3469
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Tachycardia, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Atrial septal defect OMIM:613870
Mucopolysaccharidosis Type 2, Attenuated Form
Otosclerosis, Camptodactyly of finger, Spinal cord compression, Sensorineural hearing impairment,... ORPHA:217093
Congenital Heart Defects And Skeletal Malformations Syndrome
Cutis marmorata, Ventricular septal defect, Congenital diaphragmatic hernia, Repeated pneumothora... OMIM:617602
Vici Syndrome
Atrial septal defect, Recurrent respiratory infections, Median cleft lip, Everted upper lip vermi... OMIM:242840
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Lymphadenitis, Leukocytosis, Dilated cardiomyopathy, Splenomegaly, Conge... OMIM:615895
22Q11.2 Duplication Syndrome
Ventricular septal defect, Hypoplastic left heart, Transposition of the great arteries, Interrupt... ORPHA:1727
Chromosome 1P36 Deletion Syndrome, Distal
Bicuspid aortic valve, Abnormal lung lobation, Orofacial cleft, High palate, Atrial septal defect... OMIM:607872
Microscopic Polyangiitis
Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Cutis marmorata, Epistaxis, Congestive hear... ORPHA:727
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hyperthyroidis... ORPHA:91347
Holt-Oram Syndrome
Paroxysmal atrial fibrillation, Ventricular septal defect, First degree atrioventricular block, P... ORPHA:392
Tetrasomy 15Q26
Patent ductus arteriosus, Hydrocephalus, Hypoplastic aortic arch, Syringomyelia, Atrial septal de... OMIM:614846
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... OMIM:271225
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Ventricular septal defect OMIM:602501
Primary Non-Essential Cutis Verticis Gyrata
Atrial septal defect, Ventricular septal defect ORPHA:357225
Buerger Disease
Vasculitis, Acrocyanosis ORPHA:36258
Hadziselimovic Syndrome
Ventricular hypertrophy, Ventricular septal defect, Atrial septal defect, Tetralogy of Fallot, Pu... OMIM:612946
Geleophysic Dysplasia 2
Thin upper lip vermilion, Tricuspid stenosis, Respiratory insufficiency, Mitral valve prolapse, M... OMIM:614185
Xeroderma Pigmentosum, Complementation Group C
Freckling, Hypopigmentation of the skin OMIM:278720
Lateral Meningocele Syndrome
Tethered cord, Bicuspid aortic valve, Ventricular septal defect, Short neck, Cryptorchidism, Hydr... OMIM:130720
Short Stature, Developmental Delay, And Congenital Heart Defects
Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect OMIM:617044
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Cryptorchidism, Patent ductus arteriosus, Pi... OMIM:217980
Al Amyloidosis
Howell-Jolly bodies, Nonproductive cough, Xerostomia, Abnormal salivary gland morphology, Abnorma... ORPHA:85443
Ataxia-Telangiectasia
Premature graying of hair, Hypopigmentation of hair, Multiple cafe-au-lait spots ORPHA:100
Weill-Marchesani Syndrome 2
Ventricular septal defect, Congestive heart failure, Patent ductus arteriosus, Elbow flexion cont... OMIM:608328
Serkal Syndrome
Ventricular septal defect, Congenital diaphragmatic hernia, Malrotation of small bowel, Orofacial... ORPHA:139466
Basal Cell Nevus Syndrome 1
Odontogenic keratocysts of the jaw, Ovarian fibroma, Spina bifida, Cleft upper lip, Hydrocephalus... OMIM:109400
Autosomal Recessive Cutis Laxa Type 1
Abnormal cardiac ventricular function, Vascular dilatation, Pyloric stenosis, Dilatation of the v... ORPHA:90349
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Death in infancy, Cyanosis, Apnea, Splenomegaly, Ragged-red muscle fiber... OMIM:252010
Melnick-Needles Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Cleft palate, Mitral valve prolapse,... OMIM:309350
Split Cord Malformation
Tethered cord, Tufted hairs, Cervical spina bifida, Myelomeningocele, Lipomyelomeningocele, Menin... ORPHA:573278
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Vascular ring, Hydrocele t... OMIM:601927
Leukoencephalopathy, Progressive, With Ovarian Failure
Lateral ventricle dilatation OMIM:615889
Li-Campeau Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Patent foramen ovale OMIM:619189
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Proximal amyotrophy, Cochlear degeneration, Hearing impairment ORPHA:95433
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Noncompaction cardiomyopathy, Tricuspid regurgitation, Thrombocytopeni... ORPHA:508542
Cocaine Intoxication
Respiratory distress, Prolonged QRS complex, Myocardial infarction, Intestinal perforation, Tachy... ORPHA:90068
Congenital Enterovirus Infection
Respiratory distress, Abnormal macrophage morphology, Pericardial effusion, Myocarditis, Leukocyt... ORPHA:292
Cowden Syndrome 7
Ductal carcinoma in situ, Papillary thyroid carcinoma, Hashimoto thyroiditis, Goiter OMIM:616858
Foix-Alajouanine Syndrome
Distal lower limb amyotrophy, Hyperintensity of MRI T2 signal of the spinal cord, Venous malforma... ORPHA:79093
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Ventricular septal defect, Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis,... OMIM:611812
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Warfarin-induced skin necrosis, Abnormal cerebral vascular morphology, Pulmonary embolism, Venous... ORPHA:745
Cortical Dysplasia, Complex, With Other Brain Malformations 11
Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly, Colpocephaly OMIM:620156
Igg4-Related Aortitis
Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a... ORPHA:449400
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Hydrocephalus, Vascular ring, Mitral regurgitation, Atrial septal defect OMIM:603387
Martsolf Syndrome 1
Recurrent respiratory infections, Cardiac arrest, Cryptorchidism, Congestive heart failure, Cardi... OMIM:212720
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Thin upper lip vermilion, Ventricular septal defect, Decreased response to growth hormone stimula... ORPHA:444077
Dworschak-Punetha Neurodevelopmental Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Scorpion Envenomation
Bundle branch block, Purpura, Tachycardia, Cardiac conduction abnormality, Myocarditis, Congestiv... ORPHA:466677
Global Developmental Delay With Or Without Impaired Intellectual Development
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618330
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Blue irides OMIM:105830
Bifid Nose With Or Without Anorectal And Renal Anomalies
Short lingual frenulum, Ebstein anomaly of the tricuspid valve, Anteriorly placed anus, Widely-sp... OMIM:608980
Acrodysostosis 2 With Or Without Hormone Resistance
Red hair, Fair hair, Blue irides OMIM:614613
Fetal Encasement Syndrome
Upper limb undergrowth, Congenital diaphragmatic hernia, Lower limb undergrowth OMIM:613630
Hsd10 Disease, Infantile Type
Hypertrophic cardiomyopathy, Cyanosis, Cardiomegaly ORPHA:391428
Cutis Laxa, Autosomal Recessive, Type Iid
Reduced subcutaneous adipose tissue, Hypoplastic right heart, Bilateral cryptorchidism, Congestiv... OMIM:617403
Oculocerebral Hypopigmentation Syndrome, Preus Type
Generalized hypopigmentation, White hair, Ocular albinism, Iris hypopigmentation ORPHA:2720
Mgat2-Cdg
Impaired lymphocyte transformation with phytohemagglutinin, Respiratory distress, Ventricular sep... ORPHA:79329
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98794
Arterial Tortuosity Syndrome
Ventricular hypertrophy, Aortic regurgitation, Carotid artery dissection, Congenital diaphragmati... OMIM:208050
Auriculocondylar Syndrome
Respiratory distress, Dental crowding, Hamartoma of tongue, Narrow mouth, Microglossia, Dental ma... ORPHA:137888
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Histiocytosis-Lymphadenopathy Plus Syndrome
Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th... OMIM:602782
Cardiofaciocutaneous Syndrome 3
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:615279
Aicardi-Goutieres Syndrome 1
Thrombocytopenia, Splenomegaly, Erythema, Vasculitis, Multiple gastric polyps, Cardiomyopathy, Pr... OMIM:225750
Mogs-Cdg
Respiratory distress, Atrial septal defect, Hypoventilation, Apnea, Cardiomegaly, Hepatosplenomeg... ORPHA:79330
Vater/Vacterl Association
Occipital encephalocele, Tethered cord, Ventricular septal defect, Spina bifida, Patent ductus ar... OMIM:192350
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome
Vitiligo ORPHA:293978
Beckwith-Wiedemann Syndrome
Otosclerosis, Diastasis recti, Congenital diaphragmatic hernia, Rhabdomyosarcoma, Large placenta,... ORPHA:116
Sick Sinus Syndrome 2
Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden... OMIM:163800
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Cat Eye Syndrome
Meckel diverticulum, Anal stenosis, Ventricular septal defect, Intestinal malrotation, Rectal fis... OMIM:115470
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress, Macrocytic anemia, Congenital diaphragmatic hernia, Cleft palate, Granulocy... OMIM:606164
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Recurrent respiratory infections, Apnea, Patent du... ORPHA:17
Myotonic Dystrophy 1
Respiratory distress, Atrial flutter, Atrial fibrillation, First degree atrioventricular block, F... OMIM:160900
Gorham-Stout Disease
Spinal cord compression, Torticollis, Abnormality of the internal auditory canal, Hearing impairment ORPHA:73
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Methemoglobinemia, Polycythemia, Exertional dyspnea OMIM:250800
Bacterial Toxic-Shock Syndrome
Respiratory distress, Shock, Myositis, Sinusitis, Tachycardia, Pneumonia, Respiratory tract infec... ORPHA:36234
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Patent ductus arteriosus, Hydrocephalus, Abnormal cardiac ventricle morpho... ORPHA:2306
Intellectual Developmental Disorder, Autosomal Recessive 79
Ventricular septal defect OMIM:620393
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancreatic endocrine t... ORPHA:652
Cardiomyopathy, Familial Hypertrophic, 17
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular tachycardia, Myocardial fibrosis, Palp... OMIM:613873
X-Linked Parkinsonism-Spasticity Syndrome
Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Farber Disease
Respiratory distress, Skeletal muscle atrophy, CNS foam cells, Nodular pattern on pulmonary HRCT,... ORPHA:333
Encephalocraniocutaneous Lipomatosis
Coarctation of aorta, Abnormal aortic morphology, Interrupted aortic arch, Tricuspid valve prolap... ORPHA:2396
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Skeletal muscle atrophy, Stroke-like episode, High palate, Bradycardia, Pul... OMIM:619272
Succinic Acidemia
Respiratory distress OMIM:600335
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Congestive heart failure, Generalized... ORPHA:98908
Chromosome 15Q14 Deletion Syndrome
Atrial septal defect, Ventricular septal defect OMIM:616898
Feingold Syndrome 1
Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph... OMIM:164280
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Ocular albinism, Giant melanosomes in melanocytes, Hy... OMIM:214500
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Macroorchidism, Congestive heart failure, Stroke ORPHA:3077
Aase-Smith Syndrome I
Hydrocephalus, Ventricular septal defect OMIM:147800
Autoimmune Polyendocrinopathy Type 1
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches ORPHA:3453
46,Xx Sex Reversal 5
Secundum atrial septal defect, Hypoplastic left heart, Ventricular septal defect OMIM:618901
Distal Deletion 15Q
Decreased serum insulin-like growth factor 1, Bicuspid aortic valve, Mitral atresia, Double outle... ORPHA:1596
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... ORPHA:137914
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Smooth philtrum, Megaloblastic anemia, Pulmonary embolism, Atrophy of the s... ORPHA:79282
Erdheim-Chester Disease
Abnormal pericardium morphology, Dyspnea, Congestive heart failure, Abnormal pulmonary interstiti... ORPHA:35687
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Cerebellar hemorrhage, Cardiomyopathy, Leukopenia, Neutropenia, Thrombocyto... OMIM:251000
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Abnormal hair whorl, Synophrys, Spotty hypopigmentation, Low posterior hairline, Nail dystrophy, ... OMIM:300860
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Colpocephaly OMIM:618731
Lujo Hemorrhagic Fever
Respiratory distress, Shock, Crackles, Myocarditis, Atelectasis, Leukocytosis, Nonproductive coug... ORPHA:319213
Cardiac Septal Defects With Coarctation Of The Aorta
Secundum atrial septal defect, Perimembranous ventricular septal defect, Coarctation of aorta OMIM:212090
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Brittle hair, Hypopigmentation of the skin OMIM:236200
Hypoplastic Left Heart Syndrome 2
Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia OMIM:614435
Arrhythmogenic Right Ventricular Dysplasia, Familial, 9
Fibrofatty replacement of right ventricular myocardium, Right ventricular cardiomyopathy, Prolong... OMIM:609040
Ileal Neuroendocrine Tumor
Intestinal fistula, Tricuspid stenosis, Right ventricular failure, Arterial occlusion, Lymphadeno... ORPHA:100078
Odontochondrodysplasia
Respiratory distress, Death in infancy, Delayed eruption of teeth, Patent ductus arteriosus, Dent... ORPHA:166272
Nipah Virus Disease
Respiratory distress, Recurrent pharyngitis, Hypotension, Cough ORPHA:99825
Aicardi Syndrome
Spina bifida, Partial agenesis of the corpus callosum, Optic disc coloboma, Optic atrophy, Latera... OMIM:304050
Colchicine Poisoning
Respiratory distress, Myocarditis, Leukocytosis, Congestive heart failure, Hypovolemia, Cardiores... ORPHA:31824
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia, Decreased response to growth hormone st... OMIM:245590
Dermatomyositis
Recurrent respiratory infections, Pericarditis, Abnormal eosinophil morphology, Telangiectasia of... ORPHA:221
Cardiomyopathy, Familial Hypertrophic, 2
Atrial fibrillation, Angina pectoris, Dyspnea, Ventricular septal hypertrophy, Right bundle branc... OMIM:115195
Coffin-Lowry Syndrome
Delayed eruption of teeth, Skeletal muscle atrophy, Death in early adulthood, Abnormal dental mor... ORPHA:192
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Thick lower lip vermilion, Atrioventricular block, Joint contracture of the 5th finger, Bradycard... OMIM:614407
Charge Syndrome
Low-set, posteriorly rotated ears, Facial palsy, Aqueductal stenosis, External ear malformation, ... ORPHA:138
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum, Ventriculo... OMIM:615219
Noonan Syndrome 8
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Atr... OMIM:615355
Hutchinson-Gilford Progeria Syndrome
Angina pectoris, Myocardial infarction, Precocious atherosclerosis, Congestive heart failure, Pre... OMIM:176670
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation ORPHA:77299
Hereditary Amyloidosis With Primary Renal Involvement
Gastrointestinal hemorrhage, Intestinal obstruction, Primary testicular failure, Intestinal perfo... ORPHA:85450
Moebius Syndrome
Respiratory distress, Abnormality of the dentition, Congenital fibrosis of extraocular muscles, F... OMIM:157900
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Congenital muscular torticollis, Truncus arteriosus, Abnormality of the spleen ORPHA:2538
Williams Syndrome
Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Abnormal cerebral vascular morphology... ORPHA:904
Seckel Syndrome 10
Ventricular hypertrophy, Elevated hemoglobin A1c, Elevated circulating luteinizing hormone level,... OMIM:617253
Hermansky-Pudlak Syndrome 8
Albinism, Silver-gray hair, Ocular albinism, Blue irides, Iris transillumination defect, Generali... OMIM:614077
Thoracoabdominal Syndrome
Congenital diaphragmatic hernia, Cleft upper lip, Hydrocephalus, Patent ductus arteriosus, Anence... OMIM:313850
Tetraamelia Syndrome 2
Absent nipple, Ventricular septal defect, Bilateral cleft lip, Hypoplastic pulmonary veins, Cleft... OMIM:618021
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Cyanotic episode, Limb joint contracture, Ankle flexion contracture, Knee flexion contracture ORPHA:284417
Proteus-Like Syndrome
Communicating hydrocephalus, Thymus hyperplasia, Open bite, Splenomegaly, Abnormality of the para... ORPHA:2969
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ventricular septal defect, Congestive heart... ORPHA:506
Autosomal Dominant Progressive External Ophthalmoplegia
Diabetes mellitus, Hyperthyroidism, Facial palsy, Dilated cardiomyopathy, Facial diplegia, Left v... ORPHA:254892
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Abnormality of upper lip vermillion, Facial hypotonia, Decreased re... ORPHA:506358
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Patent ductus arterios... ORPHA:284169
Cartilage-Hair Hypoplasia
Aganglionic megacolon, Malabsorption, Heart block, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:175
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities
Lateral ventricle dilatation OMIM:617668
Acute Radiation Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:454831
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Alg2-Cdg
Lateral ventricle dilatation ORPHA:79326
Toxic Epidermal Necrolysis
Respiratory distress, Recurrent respiratory infections, Gastrointestinal hemorrhage, Abnormal ple... ORPHA:537
Holoprosencephaly 13, X-Linked
Septo-optic dysplasia, Ventricular septal defect, Optic nerve hypoplasia, Alobar holoprosencephal... OMIM:301043
Incontinentia Pigmenti
Delayed eruption of teeth, Telangiectasia of the skin, Eosinophilia, Camptodactyly of finger, Sup... ORPHA:464
Autoimmune Polyendocrinopathy Type 4
Vitiligo ORPHA:227990
Geleophysic Dysplasia 1
Camptodactyly of finger, Tricuspid stenosis, Congestive heart failure, Wide mouth, Aortic valve s... OMIM:231050
Intellectual Disability And Myopathy Syndrome
Cafe-au-lait spot, Spotty hypopigmentation OMIM:619719
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Long eyelashes, H... ORPHA:79430
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:618974
Dyskeratosis Congenita, Autosomal Recessive 3
Abnormality of skin pigmentation, Nail dystrophy OMIM:613988
Isolated Atp Synthase Deficiency
Respiratory distress, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Arrhythmia ORPHA:254913
Dyskeratosis Congenita, Autosomal Recessive 6
Abnormality of skin pigmentation, Alopecia, Sparse hair, Nail dystrophy OMIM:616353
Hyperimmunoglobulinemia D With Periodic Fever
Gastrointestinal hemorrhage, Intestinal obstruction, Erythema, Vasculitis, Lymphadenopathy, Urtic... ORPHA:343
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Deep philtrum, Flexion contracture, Abnormal aortic arch morphology, ... ORPHA:96334
Addison Disease
Hyperpigmentation of the skin, Vitiligo ORPHA:85138
Fetal Trimethadione Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Transposition of the great ... ORPHA:1913
Whim Syndrome
Vitiligo ORPHA:51636
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress, Ventricular septal defect, Esophageal atresia, Deep philtrum, Cleft palate,... OMIM:610536
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Tricuspid regurgitation, Cardiomegaly, Pneumothorax, Pulmonary hypoplasia, ... OMIM:620306
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Umbilical hernia, Hypertrophi... OMIM:612938
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Persistence of primary teeth,... OMIM:300166
Polymicrogyria Due To Tubb2B Mutation
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:300573
Autoimmune Polyendocrinopathy Type 3
Vitiligo ORPHA:227982
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy
Cardiomyopathy, Limb muscle weakness, Congestive heart failure, Cardiomegaly OMIM:619259
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Neonatal death, Ventricular septal defect OMIM:613730
Lymphangioleiomyomatosis
Gastrointestinal hemorrhage, Recurrent respiratory infections, Atelectasis, Hydrocephalus, Pneumo... ORPHA:538
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Thin upper lip vermilion, Cryptorchidism, Patent ductus arteriosus, Recurre... OMIM:607143
8P23.1 Microdeletion Syndrome
Short neck, Cryptorchidism, Pulmonary artery stenosis, Patent ductus arteriosus, Hypertrophic car... ORPHA:251071
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Congestive heart failure, Flexion contracture, Recurrent pneumonia, Leukope... OMIM:616271
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Delayed eruption of teeth, Ventricular septal defect, Pulmonary artery stenosis, Subvalvular aort... OMIM:280000
Vici Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of the skin ORPHA:1493
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Recurrent respiratory infections, Abnormality of the dentition, Patent duct... OMIM:300968
Epidermal Nevus Syndrome
Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:35125
Noonan Syndrome 10
Atrial septal defect, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral... OMIM:616564
Craniofacial Dyssynostosis With Short Stature
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect OMIM:218350
Dietary Iron Overload Disease
Congestive heart failure, Esophageal carcinoma, Abnormal pancreas morphology, Abnormal heart morp... ORPHA:139507
Neurodevelopmental Disorder With Seizures And Brain Abnormalities
Partial agenesis of the corpus callosum, Lateral ventricle dilatation OMIM:619517
Unilateral Polymicrogyria
Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation, Abnormal heart morphology, Stroke ORPHA:268943
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, High, narrow palate, Wide mouth, Abnormal upper lip morphology, Re... ORPHA:2707
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Colpocephaly, Hydrocephalus, Ventriculomegaly OMIM:619833
Sympathetic Ophthalmia
Poliosis, Vitiligo ORPHA:79098
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Lateral ventricle dilatation, Spina bifida occulta, Ventriculomegaly OMIM:618291
De Barsy Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Decreased muscle mass, Ventricular... ORPHA:2962
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal cerebral vascular morphology, Premature graying of hair, Premat... ORPHA:79474
8Q12 Microduplication Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:228399
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Apnea ORPHA:1949
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Cardiomegaly, Microcytic anemia, Flexion contracture, Premature graying ... OMIM:256040
Nijmegen Breakage Syndrome
Retinal pigment epithelial mottling, Cafe-au-lait spot, Progressive vitiligo OMIM:251260
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Hip contracture, Scapular winging, Tented upper lip vermilion, Limb joint c... OMIM:620369
Schimmelpenning-Feuerstein-Mims Syndrome
Alopecia, Hypopigmentation of the skin OMIM:163200
Triploidy
Abnormal cardiac septum morphology, Hydrocephalus, Meningocele, Holoprosencephaly ORPHA:3376
Hydrocephaly-Low Insertion Umbilicus Syndrome
Communicating hydrocephalus, Patent ductus arteriosus, Tetralogy of Fallot, Anomalous pulmonary v... ORPHA:2184
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Lateral ventricle dilatation OMIM:619278
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Ventricular septal defect OMIM:618506
Allergic Bronchopulmonary Aspergillosis
Abnormal eosinophil morphology, Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmona... ORPHA:1164
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Delayed eruption of primary teeth, Dilated cardiomyopathy, Thyroid C... OMIM:300952
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Congenital diaphragmatic hernia, Clinodactyly of the 5th finger, Abno... OMIM:601163
Brachytelephalangy-Dysmorphism-Kallmann Syndrome
Synophrys, Hypopigmented skin patches, Aplastic/hypoplastic toenail ORPHA:1295
Odontochondrodysplasia 1
Respiratory distress, Recurrent respiratory infections, Death in infancy, Delayed eruption of tee... OMIM:184260
Singleton-Merten Syndrome 1
Recurrent respiratory infections, Mitral valve calcification, Thin upper lip vermilion, Hypoplasi... OMIM:182250
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Lateral ventricle dilatation OMIM:618890
Restrictive Dermopathy 2
Respiratory distress, Rectal prolapse, Cyanosis OMIM:619793
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Ventricular hypertrophy, Recurrent respiratory infections, Hemolytic anemia, Reticulocytosis, Ani... OMIM:618278
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Red hair OMIM:609734
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Dandy-Walker malformation, Hydrocephalus, Lateral ventricle dilatation, Dilated third ventricle, ... OMIM:613154
Porphyria Variegata
Hypopigmentation of the skin, Hyperpigmentation of the skin, Hypertrichosis ORPHA:79473
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Dextrocardia, Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Pulmonary hypoplasia,... OMIM:314390
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect ORPHA:94066
Lateral Meningocele Syndrome
Posteriorly rotated ears, Abnormality of the middle ear ossicles, Sensorineural hearing impairmen... ORPHA:2789
Chitayat Syndrome
Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog... OMIM:617180
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Alopecia, Onychogryposis, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown ... ORPHA:79396
Carpenter Syndrome 1
Ventricular septal defect, Short neck, Precocious puberty, Cryptorchidism, Patent ductus arterios... OMIM:201000
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Velocardiofacial Syndrome
Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Interrupted aortic arch, Pulmonary... OMIM:192430
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Cryptorchidism, Thrombocytopenia, Death in childhood OMIM:615597
Femoral-Facial Syndrome
Ventricular septal defect, Maternal diabetes, Cryptorchidism, Pulmonic stenosis, Truncus arteriosus OMIM:134780
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Abnormal cerebral vascular morphology, Pulmonary embolism, Venous insufficiency, Subcutaneous hem... ORPHA:743
Right Pulmonary Artery, Anomalous Origin Of, Familial
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ... OMIM:610338
Adams-Oliver Syndrome 2
Hydrocephalus, Lateral ventricle dilatation OMIM:614219
Hermansky-Pudlak Syndrome 11
Albinism, Ocular albinism, Melanocytic nevus, Iris transillumination defect, Fair hair OMIM:619172
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Eosinophilia, Abnormality of the den... ORPHA:2314
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect OMIM:607598
Autosomal Recessive Spondylocostal Dysostosis
Low-set, posteriorly rotated ears, Camptodactyly of finger, Congenital diaphragmatic hernia, Meni... ORPHA:2311
Pyruvate Dehydrogenase E1-Alpha Deficiency
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Ventriculomegaly, Lateral v... ORPHA:79243
Intellectual Developmental Disorder, Autosomal Dominant 66
Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra... OMIM:619910
Papillon-Lefèvre Syndrome
Abnormal fingernail morphology, Hypopigmented skin patches, Generalized hirsutism, Nail dystrophy... ORPHA:678
Mitochondrial Complex Iv Deficiency, Nuclear Type 22
Left ventricular hypertrophy, Death in infancy, Congestive heart failure OMIM:619355
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Large placenta, Umbilical hernia, Ventricular septal defect, Abnormal heart morphology ORPHA:254534
Oculocerebrocutaneous Syndrome
Alopecia, Abnormal fingernail morphology, Hydrocephalus, Hypopigmented skin patches, Dandy-Walker... ORPHA:1647
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Reticulocytosis, Transient ischemic attack, Myocardial infarction, Jaundice... OMIM:274150
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Abnormal heart morpho... ORPHA:500159
Atrial Standstill 2
Atrial cardiomyopathy, Absent P wave, Dyspnea, Dilatation of the ventricular cavity, Atrial stand... OMIM:615745
Intellectual Developmental Disorder, Autosomal Dominant 48
Dilated fourth ventricle, Umbilical hernia, Lateral ventricle dilatation OMIM:617751
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Carotid artery dissection, Thoracic aortic aneurysm, Varicose veins, Dil... OMIM:619656
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Recurrent respiratory infections, Thin upper lip vermilion, Decreased respo... ORPHA:177907
Flna-Related X-Linked Myxomatous Valvular Dysplasia
Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Dyspnea, Patent ductus arte... ORPHA:555877
Eosinophilic Fasciitis
Myositis, Abnormal eosinophil morphology, Eosinophilia, Muscular edema, Acrocyanosis ORPHA:3165
Otopalatodigital Syndrome, Type Ii
Elbow contracture, Spina bifida, Cryptorchidism, Hydrocephalus, Respiratory insufficiency, Cleft ... OMIM:304120
Fucosidosis
Decreased muscle mass, Abnormality of the dentition, Cardiomegaly, Acrocyanosis, Vascular skin ab... ORPHA:349
Curry-Jones Syndrome
Hypopigmented skin patches, Generalized hirsutism ORPHA:1553
Obesity-Hypoventilation Syndrome
Hypoventilation, Cyanosis OMIM:257500
Tatton-Brown-Rahman Syndrome
Tricuspid regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, U... OMIM:615879
Relapsing Polychondritis
Abnormal endocardium morphology, Pericarditis, Myocarditis, Atelectasis, Erythema, Dyspnea, Large... ORPHA:728
Hypoadrenocorticism, Familial
Cyanosis, Apnea OMIM:240200
Pontocerebellar Hypoplasia, Type 1A
Lateral ventricle dilatation OMIM:607596
Polysyndactyly With Cardiac Malformation
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:263630
15Q11.2 Microdeletion Syndrome
Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo... ORPHA:261183
Tropical Endomyocardial Fibrosis
Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun... ORPHA:75565
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress, Cryptorchidism, Hydrocephalus, Narrow palate, Cleft palate, Anteriorly plac... ORPHA:1555
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral artery hypoplasia, Unilateral vertebral artery hypoplasia, Dextrocardia, Situs inversus... OMIM:613686
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Recurrent respiratory infections, Thin upper lip vermilion, Deep philtrum, ... ORPHA:329178
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Respiratory failure OMIM:620166
Sporadic Pheochromocytoma/Secreting Paraganglioma
Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive heart failure, Adrenal pheochromoc... ORPHA:276621
Beta-Thalassemia Intermedia
Hypoparathyroidism, Increased HbA2 hemoglobin, Extramedullary hematopoiesis, Anemia of inadequate... ORPHA:231222
Tuberous Sclerosis Complex
Respiratory distress, Respiratory tract infection, Pituitary adenoma, Parathyroid hyperplasia, No... ORPHA:805
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Generalized hypopigmentation, Iris transillumination defect OMIM:617306
Porphyria Cutanea Tarda
Hypopigmentation of the skin, Hirsutism, Hyperpigmentation of the skin, Hypertrichosis ORPHA:101330
Laryngeal Abductor Paralysis
Stridor, Cyanosis OMIM:150260
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Prematurely aged appearance, Congestive heart failure, Dilatation of the ve... ORPHA:90348
Hartnup Disease
Irregular hyperpigmentation, Hypopigmented skin patches ORPHA:2116
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Congenital diaphragmatic hernia, Vascular tortuosity, Ascending... OMIM:219100
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Overriding aorta, Abnormal aortic arch morphology ORPHA:1110
Pheochromocytoma--Islet Cell Tumor Syndrome
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171420
Weiss-Kruszka Syndrome
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:618619
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Pheochromocytoma, Elevated circulating calcitonin concentration, Parathyro... OMIM:162300
Intellectual Developmental Disorder, Autosomal Recessive 78
Hypopigmentation of the skin OMIM:620237
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Protruding tongue, Cyanosis, Apnea, Limb hypertonia OMIM:619580
Porphyria, Congenital Erythropoietic
Absent eyebrow, Alopecia, Loss of eyelashes, Hypopigmentation of the skin, Hyperpigmentation of t... OMIM:263700
Acquired Purpura Fulminans
Shock, Intracranial hemorrhage, Macular purpura, Acrocyanosis, Internal hemorrhage, Thrombocytopenia ORPHA:49566
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Low-set, posteriorly rotated ears, Hearing abnormality, Meningocele, Protruding ear ORPHA:2031
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Thrombocytopenia, Anemia, Neutropenia ORPHA:289916
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Multiple cafe-au-lait spots, Generalized hypopigmentation, Abnormality of retinal pigmentation, M... ORPHA:1969
Noonan Syndrome 9
Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta OMIM:616559
Halperin-Birk Syndrome
Colpocephaly, Umbilical hernia, Agenesis of corpus callosum, Ventriculomegaly, Semilobar holopros... OMIM:618651
Familial Adenomatous Polyposis
Pancreatic adenocarcinoma, Abnormality of the thyroid gland, Pituitary adenoma, Thyroiditis, Neop... ORPHA:733
Distal Triplication 15Q
Hydrocephalus, Patent ductus arteriosus, Hypoplastic aortic arch, Abnormal heart morphology, Hydr... ORPHA:314588
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Robinow Syndrome
Dental crowding, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, Persistence of p... ORPHA:97360
Slc35A2-Cdg
Hypopigmentation of the skin ORPHA:356961
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, Hypertension, Second degre... OMIM:617021
Autosomal Dominant Palmoplantar Keratoderma And Congenital Alopecia
Ridged nail, Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Sparse eyebrow, Meningocele, Na... ORPHA:1010
Chromosome 5Q12 Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypotension, Atrial septal defect, Patent fo... OMIM:615668
Ramos-Arroyo Syndrome
Respiratory distress, Aganglionic megacolon, Carious teeth, Patent ductus arteriosus, Xerostomia,... ORPHA:1051
Brittle Cornea Syndrome 1
Red hair OMIM:229200
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Patent foramen ovale, Transposition of the great arteries, Short neck OMIM:616789
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Hypertension, Second degree atrioventricula... OMIM:615474
Generalized Arterial Calcification Of Infancy
Respiratory distress, Medial calcification of large arteries, Cardiomegaly, Abnormal retinal arte... ORPHA:51608
Transposition Of The Great Arteries, Dextro-Looped
Transposition of the great arteries OMIM:608808
Trigonocephaly With Short Stature And Developmental Delay
Ventricular septal defect OMIM:314320
Pemphigus Erythematosus
Hypopigmented skin patches ORPHA:79480
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Atrial septal defect, Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect OMIM:619769
Chromosome 6Pter-P24 Deletion Syndrome
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Telangiectasia, Atrial septal... OMIM:612582
Chromosome 1P36 Deletion Syndrome, Proximal
Wolff-Parkinson-White syndrome, Bicuspid aortic valve, Ventricular septal defect, Complete atriov... OMIM:619343
Ventriculomegaly With Cystic Kidney Disease
Hydrocephalus, Ventricular septal defect, Vascular dilatation OMIM:219730
Erythrocytosis, Familial, 2
Plethora, Cerebral hemorrhage, Increased hemoglobin, Increased red blood cell mass, Varicose vein... OMIM:263400
Poems Syndrome
Pericardial effusion, Respiratory insufficiency due to muscle weakness, Lymphadenopathy, Restrict... ORPHA:2905
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Aortic dissection, Dental crowding, Vascular dilatation, Varicose veins, Thin vermilion border, S... OMIM:618343
Squalene Synthase Deficiency
Abnormality of hair pigmentation OMIM:618156
Acrofrontofacionasal Dysostosis
Brushfield spots, Anonychia, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow ORPHA:1784
Delpire-Mcneill Syndrome
Ventricular septal defect OMIM:619083
Mismatch Repair Cancer Syndrome 1
Multiple cafe-au-lait spots, Axillary freckling, Hypopigmentation of the skin OMIM:276300
Trigonocephaly-Short Stature-Developmental Delay Syndrome
Ventricular septal defect ORPHA:3369
Nocardiosis
Respiratory distress, Pericarditis, Abnormal heart valve morphology, Pneumonia, Productive cough,... ORPHA:31204
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Intracranial hemorrhage, Cough, Ecchymosis, Internal hemorrhage, Leukocytos... ORPHA:340
Alternating Hemiplegia Of Childhood
Respiratory distress, Facial hypotonia, Apnea, Exaggerated cupid's bow, Cardiac conduction abnorm... ORPHA:2131
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome
Meningocele ORPHA:2003
Turner Syndrome Due To Structural X Chromosome Anomalies
Vitiligo, Numerous congenital melanocytic nevi, Melanocytic nevus ORPHA:99413
Mosaic Monosomy X
Vitiligo, Numerous congenital melanocytic nevi, Melanocytic nevus ORPHA:99228
Monosomy X
Vitiligo, Numerous congenital melanocytic nevi, Melanocytic nevus ORPHA:99226
Turner Syndrome
Vitiligo, Numerous congenital melanocytic nevi, Melanocytic nevus ORPHA:881
Chromosome 15Q25 Deletion Syndrome
Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenita... OMIM:614294
Multiple Benign Circumferential Skin Creases On Limbs
Cryptorchidism, Congestive heart failure, Cleft palate, Long philtrum, Umbilical hernia ORPHA:2505
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Familial Multinodular Goiter
Hyperthyroidism, Multinodular goiter, Ovarian neoplasm, Thyroid carcinoma, Testicular seminoma, S... ORPHA:276399
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Intestinal edema, Abnormal soft palate morphology, Dyspnea, U... ORPHA:100050
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Ventricular septal defect, Secundum atrial septal defect, Coarctation of aorta, Perimembranous ve... OMIM:600987
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Flexion contracture, Hypodontia ORPHA:544503
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Abnormal spinal cord morphology, Hydrocephalus, Optic atrophy ORPHA:99947
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Atrial septal defect,... ORPHA:329224
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Stroke, Cerebral ischemia ORPHA:927
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Ventricular septal defect, Hypoplastic left heart ORPHA:2772
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Lateral ventricle dilatation OMIM:600721
Mercury Poisoning
Respiratory distress, Tachycardia, Dyspnea, Hypertension, Interstitial pneumonitis, Respiratory f... ORPHA:330021
Joubert Syndrome 3
Enlarged fossa interpeduncularis, Lateral ventricle dilatation OMIM:608629
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Ventricular septal defect, Coarctation of aorta OMIM:620210
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Lateral ventricle dilatation OMIM:615716
Glutamine Deficiency, Congenital
Subependymal cysts, Lateral ventricle dilatation OMIM:610015
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:2143
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoe... ORPHA:1780
Cryptococcosis
Respiratory distress, Lymphoid leukemia, Pneumonia, Nodular pattern on pulmonary HRCT, Mediastina... ORPHA:1546
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect, Holoprosencephaly ORPHA:77298
Loeys-Dietz Syndrome 3
Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a... OMIM:613795
Thymic Neuroendocrine Tumor
Chronic noninfectious lymphadenopathy, Pituitary null cell adenoma, Pancreatic islet cell adenoma... ORPHA:97289
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Occipital encephalocele, Ventriculomegaly, Meningocele, Lateral ventricle dilatation, Colpocephal... ORPHA:397715
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Lateral ventricle dilatation OMIM:221770
Neuroendocrine Neoplasm Of Appendix
Mechanical ileus, Chronic noninfectious lymphadenopathy, Tricuspid stenosis, Midgut malrotation, ... ORPHA:100079
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome
Curly hair, Cafe-au-lait spot, Hypopigmented skin patches ORPHA:457485
Ehlers-Danlos Syndrome, Vascular Type
Nodular pattern on pulmonary HRCT, Periodontitis, Ecchymosis, Premature loss of teeth, Emphysema,... OMIM:130050
Alagille Syndrome
Ventricular septal defect, Telangiectasia of the skin, Hypertension, Atrial septal defect, Spina ... ORPHA:52
Primary Sclerosing Cholangitis
Abnormal eosinophil morphology, Spider hemangioma, Portal hypertension, Celiac disease, Splenomeg... ORPHA:171
Paganini-Miozzo Syndrome
Lateral ventricle dilatation OMIM:301025
Episodic Ataxia Type 1
Respiratory distress, Calf muscle hypertrophy ORPHA:37612
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation ORPHA:208447
Angelman Syndrome
Fair hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:72
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Abnormal autonomic ne... ORPHA:139578
Acromelic Frontonasal Dysplasia
Encephalocele, Meningocele, Abnormal toenail morphology, Agenesis of corpus callosum, Ventriculom... ORPHA:1827
Inhalational Anthrax
Respiratory distress, Abnormal sweat gland morphology, Dyspnea, Hypotension, Internal hemorrhage ORPHA:247257
Primary Sjögren Syndrome
Vitiligo ORPHA:289390
Primary Dystonia, Dyt4 Type
Respiratory distress, Movement abnormality of the tongue, Torticollis, Open mouth ORPHA:98805
Rothmund-Thomson Syndrome
Sparse eyelashes, Alopecia totalis, Sparse eyebrow, Reticular hyperpigmentation, Small nail, Nail... ORPHA:2909
Mitochondrial Complex Iii Deficiency, Nuclear Type 10
Persistent fetal circulation, Ventricular septal defect, Pericardial effusion, Bradycardia, Hyper... OMIM:618775
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Acute myeloid leukemia, Pancytopenia, Respiratory distress, Neonatal respira... OMIM:260400
Holoprosencephaly 14
Ventricular septal defect, Alobar holoprosencephaly, Aqueductal stenosis, Hydrocephalus, Aortic v... OMIM:619895
Leptospirosis
Respiratory distress, Pericarditis, First degree atrioventricular block, Jaundice, Rhabdomyolysis... ORPHA:509
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Hydrocephalus, Ventricular septal defect OMIM:615630
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic right heart OMIM:618142
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress, Natal tooth, Hydrocephalus, Gingival overgrowth, Narrow palate, Anteriorly ... OMIM:123790
Loeys-Dietz Syndrome 2
Bicuspid aortic valve, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve, Atrial septa... OMIM:610168
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress, Carious teeth, Thick vermilion border, Widely spaced teeth OMIM:617102
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Pierre-Robin sequence, Cleft palate, Cervical myelopathy, Restrictive venti... OMIM:183900
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,... OMIM:618426
Klippel-Feil Syndrome 2, Autosomal Recessive
Ventricular septal defect OMIM:214300
Pituitary Carcinoma
Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro... ORPHA:300385
Keratoderma Hereditarium Mutilans
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism ORPHA:494
Arboleda-Tham Syndrome
Respiratory distress, Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corners... OMIM:616268
Bloom Syndrome
Cafe-au-lait spot, Hypopigmentation of the skin, Spotty hypopigmentation, Hypertrichosis OMIM:210900
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome
Juvenile gastrointestinal polyposis, Epistaxis, Pulmonary arteriovenous malformation, Cerebral ar... OMIM:175050
Abetalipoproteinemia
Reticulocytosis, Acanthocytosis, Cardiomegaly, Congestive heart failure, Myopathy, Respiratory fa... ORPHA:14
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Aortic regurgitation, Thin upper lip vermilion, Torticollis, Ventricular septal defect, Bicuspid ... OMIM:619475
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Respiratory distress... ORPHA:79139
Osteogenesis Imperfecta, Type Ii
Congestive heart failure, Pulmonary insufficiency, Respiratory insufficiency OMIM:166210
Myasthenia Gravis
Hemolytic anemia, Myositis, Pure red cell aplasia, Raynaud phenomenon, Dyspnea, Acrocyanosis ORPHA:589
Severe X-Linked Intellectual Disability, Gustavson Type
Dilated fourth ventricle, Lateral ventricle dilatation, Dandy-Walker malformation ORPHA:3078
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Delayed eruption of teeth, Aortic regurgitation, Tricuspid regurgitation... OMIM:143095
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type
Atrial septal defect, Mitral regurgitation, Ventricular septal defect, Aortic root aneurysm OMIM:301039
Livedoid Vasculopathy
Pancytopenia, Telangiectasia of the skin, Cutis marmorata, Poor wound healing, Abnormal capillary... ORPHA:542643
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Developmental And Epileptic Encephalopathy 31B
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:620352
H Syndrome
Microcytic anemia, Cleft upper lip, Recurrent pharyngitis, Hydrocephalus, Malabsorption, Abnormal... ORPHA:168569
Stt3B-Cdg
Respiratory distress, Cryptorchidism, Thrombocytopenia ORPHA:370924
Hermansky-Pudlak Syndrome 2
Aberrant melanosome maturation, Albinism, Ocular albinism, Generalized hypopigmentation, Fair hair OMIM:608233
Keutel Syndrome
Pulmonary arterial hypertension, Pulmonary artery stenosis, Ventricular septal defect ORPHA:85202
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Increased variability in muscle fiber diameter, Stridor OMIM:615595
Frank-Ter Haar Syndrome
Redundant neck skin, Ventricular septal defect, Secundum atrial septal defect, Mitral valve prola... OMIM:249420
Sim1-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398079
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Right aortic arch, Coarctation of aorta OMIM:140850
Kaposi Sarcoma
Venous insufficiency, Abnormality of the spleen, Abnormal lung morphology, Generalized lymphadeno... ORPHA:33276
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Apnea, Meconium ileus, Respiratory insufficiency, Knee flexion contracture, Weakness of... OMIM:617239
Ellis Van Creveld Syndrome
Delayed eruption of teeth, Ventricular septal defect, Dextrocardia, Abnormal heart valve morpholo... ORPHA:289
Fryns Syndrome
Thickened nuchal skin fold, Aganglionic megacolon, Short neck, Cryptorchidism, Abnormal aortic ar... ORPHA:2059
Adams-Oliver Syndrome 1
Encephalocele, Bicuspid aortic valve, Ventricular septal defect, Pulmonary artery stenosis, Hyper... OMIM:100300
Friedreich Ataxia
Abnormal EKG, Hypertrophic cardiomyopathy, Congestive heart failure OMIM:229300
Woods Syndrome
Ventricular septal defect OMIM:615236
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Spina bifida occulta, Pulmonic stenosis, Transposition of the great arteries, Perimembranous vent... OMIM:617877
Pontocerebellar Hypoplasia, Type 13
Lateral ventricle dilatation, Dandy-Walker malformation OMIM:618606
Coccidioidomycosis
Respiratory distress, Pericarditis, Pneumonia, Eosinophilia, Abnormality of the spleen, Mediastin... ORPHA:228123
1Q41Q42 Microdeletion Syndrome
Talipes equinovarus, Holoprosencephaly, Congenital diaphragmatic hernia ORPHA:250999
Atelis Syndrome 1
Atrial septal defect, Ventricular septal defect OMIM:620184
Prader-Willi Syndrome
Hypopigmentation of hair, Frontal upsweep of hair, Generalized hypopigmentation, Hypopigmentation... OMIM:176270
Ruvalcaba Syndrome
Hypopigmented skin patches, Generalized hirsutism ORPHA:3121
Glutaric Acidemia I
Hydrocephalus, Lateral ventricle dilatation OMIM:231670
Developmental And Epileptic Encephalopathy 66
Atrial septal defect, Ventricular septal defect, Dextrocardia OMIM:618067
Kniest Dysplasia
Respiratory distress, Hip contracture, Cleft palate, Tracheomalacia, Umbilical hernia OMIM:156550
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Ventricular hypertrophy, Ventricular septal defect, Epistaxis, Intracranial hemorrhage, Hypertens... ORPHA:369929
Filippi Syndrome
Ventricular septal defect OMIM:272440
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Recurrent respiratory infections, Myositis, Autoimmune hemolytic anemia, Ga... ORPHA:37042
Schinzel-Giedion Syndrome
Respiratory distress, Delayed eruption of teeth, Streak ovary, Aganglionic megacolon, Abnormality... ORPHA:798
Classical-Like Ehlers-Danlos Syndrome Type 2
Long uvula, Carotid artery stenosis, Pericardial effusion, Cryptorchidism, Tooth malposition, Pro... ORPHA:536532
Hereditary Pheochromocytoma-Paraganglioma
Extraadrenal pheochromocytoma, Cerebral hemorrhage, Congestive heart failure, Adrenal pheochromoc... ORPHA:29072
Cach Syndrome
Lateral ventricle dilatation ORPHA:135
Biotinidase Deficiency
Respiratory distress, Apnea, Myelopathy, Limb muscle weakness, Hyperventilation ORPHA:79241
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Abnormality of the spleen, Bacterial endocarditis, Ecchymosis, Poor wound healing, Hepatosplenome... ORPHA:2072
Kleefstra Syndrome Due To 9Q34 Microdeletion
Cryptorchidism, Tetralogy of Fallot, Conotruncal defect, Coarctation of aorta, Abnormal cardiac s... ORPHA:96147
X-Linked Agammaglobulinemia
Alopecia, Hypopigmented skin patches ORPHA:47
Gitelman Syndrome
Neoplasm of the pancreas, Respiratory distress, Prolonged QT interval, Pericardial effusion, Rayn... ORPHA:358
Meester-Loeys Syndrome
Aortic dissection, Poor wound healing, Gingival overgrowth, Mitral valve prolapse, Ascending tubu... OMIM:300989
Tyshchenko Syndrome
Atrial septal defect, Ventricular septal defect, Pulmonic stenosis OMIM:615102
Thymic Carcinoma
Dyspnea, Mediastinal lymphadenopathy, Abnormal vena cava morphology, Cough ORPHA:99868
Hoyeraal-Hreidarsson Syndrome
Sparse scalp hair, Generalized hyperpigmentation, Premature graying of hair, Nail dystrophy, Gene... ORPHA:3322
Malan Overgrowth Syndrome
Lateral ventricle dilatation, Ventriculomegaly ORPHA:420179
Pfeiffer Syndrome Type 2
Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, H... ORPHA:93259
Congenital Rubella Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:290
Methimazole Embryofetopathy
Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta ORPHA:1923
Cleft Larynx, Posterior
Aspiration, Cyanosis OMIM:215800
Giant Axonal Neuropathy 1, Autosomal Recessive
Lateral ventricle dilatation OMIM:256850
Tetanus
Respiratory distress, Tachycardia, Tachypnea, Hypertension, Bradycardia ORPHA:3299
Mosaic Trisomy 8
Hypopigmentation of the skin, Hypopigmented skin patches ORPHA:96061
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Thin upper lip vermilion, Tented upper lip vermilion, Facial hypotonia, Abn... ORPHA:438216
Zygomycosis
Sinusitis, Acute infectious pneumonia, Colitis, Cough, Neutropenia, Atelectasis, Mediastinal lymp... ORPHA:73263
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation ORPHA:85290
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Ventricular septal defect ORPHA:93267
Roifman Syndrome
Noncompaction cardiomyopathy, Ventricular septal defect OMIM:616651
Familial Multiple Nevi Flammei
Pulmonary embolism, Venous insufficiency, Intracranial hemorrhage, Arteriovenous malformation, Ar... ORPHA:624
Loeys-Dietz Syndrome 1
Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Arterial tortuosity, Descendin... OMIM:609192
Pheochromocytoma
Tachycardia, Cerebral hemorrhage, Congestive heart failure, Episodic hypertension, Pheochromocyto... OMIM:171300
Intellectual Developmental Disorder, Autosomal Dominant 56
Lateral ventricle dilatation OMIM:617854
Skraban-Deardorff Syndrome
Right aortic arch, Ventricular septal defect OMIM:617616
Epidermodysplasia Verruciformis, Susceptibility To, 4
Stomatitis, Emphysema, Increased proportion of exhausted T cells, Facial erythema OMIM:618307
Cooper-Jabs Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1488
Hallermann-Streiff Syndrome
Natal tooth, Abnormality of the dentition, Cryptorchidism, High, narrow palate, Supernumerary too... ORPHA:2108
Lymphedema-Distichiasis Syndrome
Ventricular septal defect, Cleft upper lip, Patent ductus arteriosus, Cleft palate, Varicose vein... OMIM:153400
Transaldolase Deficiency
Ventricular septal defect, Patent ductus arteriosus, Telangiectasia, Coarctation of aorta, Atrial... OMIM:606003
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Ventricular septal defect OMIM:616730
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, A... OMIM:618733
Acitretin/Etretinate Embryopathy
Atrioventricular canal defect, Hypoplasia of the thymus, Conotruncal defect ORPHA:40366
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Accessory oral frenulum, Hamartoma of tongue, Hydrocephalus, Ane... OMIM:616546
Jansen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve OMIM:617450
Linear Skin Defects With Multiple Congenital Anomalies 1
Overriding aorta, Ventricular septal defect, Congenital diaphragmatic hernia, Junctional ectopic ... OMIM:309801
Generalized Pustular Psoriasis
Congestive heart failure, Leukocytosis, Cheilitis, Lymphopenia, Geographic tongue ORPHA:247353
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Abnormal heart morphology ORPHA:369891
Homozygous Familial Hypercholesterolemia
Myocardial infarction, Precocious atherosclerosis, Abnormal internal carotid artery morphology, A... ORPHA:391665
Cowden Syndrome
Follicular thyroid carcinoma, Enlarged polycystic ovaries, Abnormality of the thyroid gland, Aden... ORPHA:201
Doors Syndrome
Respiratory distress, Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, W... ORPHA:79500
Common Variable Immunodeficiency
Recurrent respiratory infections, Hemolytic anemia, Pneumonia, Autoimmune thrombocytopenia, Gastr... ORPHA:1572
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Apnea OMIM:261680
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Umbilical hernia, Lateral ventricle dilatation OMIM:618914
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Transient neutropenia, Ventricular septal defect, Chronic neutropenia, Abnormal right ventricle m... ORPHA:500095
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Hydrocephalus, Subvalvular aortic stenosis, Atrial septal defect, Peri... OMIM:613001
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:614261
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology, Persistent left super... OMIM:618494
Pelger-Huet Anomaly
Umbilical hernia, Ventricular septal defect OMIM:169400
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Jaundice, Pulmonary hypoplasia, Respiratory distress OMIM:231680
Carney Complex
Neoplasm of the stomach, Leydig cell neoplasia, Ovarian serous cystadenoma, Neoplasm of the rectu... ORPHA:1359
Hyperparathyroidism, Transient Neonatal
Communicating hydrocephalus, Respiratory distress, Hyperparathyroidism, Patent ductus arteriosus,... OMIM:618188
Multiple Endocrine Neoplasia Type 2
Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Cervical lymph... ORPHA:653
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Cardiomegaly, Neonatal alloimmune thrombo... ORPHA:51
Curry-Jones Syndrome
Ventriculomegaly, Lipomyelomeningocele, Occipital meningocele, High anterior hairline, Agenesis o... OMIM:601707
Infantile Krabbe Disease
Respiratory distress, Abnormal heart rate variability, Respiratory failure, Shoulder girdle muscl... ORPHA:206436
Trichohepatoenteric Syndrome 1
Curly hair, Brittle hair, Woolly hair, Fine hair, Sparse hair, Generalized hypopigmentation, Cafe... OMIM:222470
Rothmund-Thomson Syndrome Type 1
Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ... ORPHA:221008
Vascular Ehlers-Danlos Syndrome
High, narrow palate, Abnormality of the gingiva, Gingivitis, Periodontitis, Microdontia, Internal... ORPHA:286
Dravet Syndrome
Cyanotic episode ORPHA:33069
Diamond-Blackfan Anemia 12
Ventricular septal defect OMIM:615550
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Lateral ventricle dilatation OMIM:614105
Fanconi Anemia, Complementation Group I
Colpocephaly, Agenesis of corpus callosum OMIM:609053
Desbuquois Syndrome
Ventricular septal defect ORPHA:1425
Syndromic Diarrhea
Hypopigmentation of hair, Brittle hair, Woolly hair, Uncombable hair, Generalized hypopigmentatio... ORPHA:84064
Postinfectious Vasculitis
Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Orchitis, Raynaud phenomenon, ... ORPHA:48435
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Median cleft lip, Accessory oral frenulum, Splenomegaly, Supernumerary toot... OMIM:617088
Xq21 Microdeletion Syndrome
Stapes ankylosis, Dilatated internal auditory canal, Sensorineural hearing impairment, Upper limb... ORPHA:1435
Congenital Disorder Of Glycosylation, Type Iil
Atrial septal defect, Hydrocephalus, Patent ductus arteriosus, Ventricular septal defect OMIM:614576
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Flexion contracture OMIM:618201
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Tricuspid regurgitation, Ventricular septal defect, Patent ductus arteriosus, Atrial septal defec... OMIM:618870
Hermansky-Pudlak Syndrome 4
Ocular albinism, Albinism OMIM:614073
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Tachycardia, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Ap... ORPHA:348
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Myocardial fibrosis, Transpo... OMIM:253800
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98754
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Hypopigmentation of hair, Hypopigmented skin patches, Premature gray... ORPHA:163746
Chédiak-Higashi Syndrome
Abnormality of retinal pigmentation, Hypopigmentation of hair, Large clumps of pigment irregularl... ORPHA:167
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Petechiae OMIM:602473
Angioosteohypotrophic Syndrome
Prominent superficial veins, Telangiectasia of the skin, Venous malformation ORPHA:75508
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Ventricular septal defect, Dextrocardia OMIM:616037
Magel2-Related Prader-Willi-Like Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:398069
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia, Elevated circulating luteinizing hormone level OMIM:250790
Sarcoidosis, Susceptibility To, 1
Pancytopenia, Generalized lymphadenopathy, Pericardial effusion, Mediastinal lymphadenopathy, Spl... OMIM:181000
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:98793
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea, Thrombocytopenia ORPHA:79242
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Neutrophilia, Splenomegaly, Pulmonary fibrosis, Stomatitis OMIM:612852
Hydrolethalus Syndrome 1
Accessory spleen, Median cleft lip, Ventricular septal defect, Complete atrioventricular canal de... OMIM:236680
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Hypopigmentation of hair, Hypopigmentation of the skin, Iris hypopigmentation ORPHA:177901
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum OMIM:619244
Inverted Duplicated Chromosome 15 Syndrome
Tetralogy of Fallot, Ventricular septal defect ORPHA:3306
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Cryptorchidism, Narrow mouth, Flexion contracture, Cleft ... OMIM:224690
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Ventricular septal defect ORPHA:2256
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Hypopigmented skin patches ORPHA:2715
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Gastrointestinal hemorrhage, Dental crowding, Poor wound healing, Congestive heart failure, Recur... OMIM:225400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Hypogeusia, Hyperte... OMIM:223900
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Breast aplasia, Gen... ORPHA:238468
Pontocerebellar Hypoplasia, Type 17
Secundum atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:619909
Diaphanospondylodysostosis
Respiratory distress, Cleft palate, Respiratory insufficiency, Pulmonary hypoplasia, Tracheomalacia OMIM:608022
Aceruloplasminemia
Refractory anemia, Torticollis, Congestive heart failure, Abnormal pancreas morphology, Hypochrom... ORPHA:48818
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ventricular septal defect, Optic nerve hypoplasia, Short neck, Cryptorchidism, Patent ductus arte... OMIM:617506
Rothmund-Thomson Syndrome Type 2
Alopecia totalis, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Nail dysplasia, ... ORPHA:221016
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Partial agenesis of the corpus callosum, Dilated third ventricle, Lateral ventricle dilatation OMIM:617296
Short Stature And Facioauriculothoracic Malformations
Ventricular septal defect OMIM:609654
Neurodevelopmental Disorder With Language Delay And Seizures
Ventricular septal defect OMIM:619908
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Umbilical hernia, Ventricular septal defect ORPHA:1770
Oromandibular Dystonia
Respiratory distress, Abnormal lip morphology, Torticollis ORPHA:93958
Hypermobile Ehlers-Danlos Syndrome
Arterial dissection, Apnea, Abnormality of the dentition, Malabsorption, Venous insufficiency, Ab... ORPHA:285
Prune Belly Syndrome
Atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2970
Microlissencephaly-Micromelia Syndrome
Hypoparathyroidism, Respiratory distress, Long philtrum ORPHA:50810
African Trypanosomiasis
Abnormal EKG, Pericarditis, Miscarriage, Myocarditis, Jaundice, Splenomegaly, Myelopathy, Congest... ORPHA:3385
Achondroplasia
Respiratory distress, Death in infancy, Hydrocephalus, Upper airway obstruction, Pulmonary hypopl... OMIM:100800
Mitochondrial Dna-Associated Leigh Syndrome
Apnea, Cardiac conduction abnormality, Dyspnea, Dilated cardiomyopathy, Ragged-red muscle fibers,... ORPHA:255210
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Everted upper lip vermilion, Absent nipple, Abnormal oral mucosa morphology... OMIM:305100
Goodpasture Syndrome
Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Increased DLCO, Tachypnea, Restrictive ven... OMIM:233450
Pfeiffer Syndrome Type 3
Respiratory distress, Intestinal malrotation, Aqueductal stenosis, Cleft palate, High palate, Tra... ORPHA:93260
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion contracture, Bilatera... OMIM:618022
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Ventricular septal defect, Miscarriage, Deep phi... OMIM:245150
Pseudo-Torch Syndrome 2
Lateral ventricle dilatation, Ventriculomegaly OMIM:617397
Periventricular Nodular Heterotopia 7
Ventricular septal defect OMIM:617201
Ogden Syndrome
Pulmonary artery stenosis, Cardiogenic shock, Arrhythmia, Ventricular septal defect ORPHA:276432
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Erosion of oral mucosa, Pneumonia, Abnormal oral mucosa morphology, Dyspnea... ORPHA:79404
Transketolase Deficiency
Ventricular septal defect, Abnormal coronary artery course, Patent ductus arteriosus, Abnormal he... ORPHA:488618
Fanconi Anemia, Complementation Group B
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect, Coarctation of aorta OMIM:300514
Hepatoerythropoietic Porphyria
Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... ORPHA:95159
Intellectual Developmental Disorder, Autosomal Recessive 71
Ventricular septal defect OMIM:618504
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome
Abnormal vena cava morphology, Cryptorchidism, Ventricular septal defect, Heart murmur ORPHA:166035
Harrod Syndrome
Hypopigmented skin patches ORPHA:2115
Gapo Syndrome
Alopecia, Sparse eyelashes, Sparse eyebrow, Early balding, Hypopigmented skin patches ORPHA:2067
Primary Hyperoxaluria
Cutis marmorata, Abnormality of the dentition, Heart block, Raynaud phenomenon, Arterial occlusio... ORPHA:416
Igg4-Related Dacryoadenitis And Sialadenitis
Enlarged lacrimal glands, Thyroiditis, Lymphadenopathy, Enlargement of parotid gland, Nodular goi... ORPHA:79078
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Atrial septal defect, Spina bifida occulta, Ventricular septal defect OMIM:617360
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Colpocephaly OMIM:620113
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Ventricular septal defect, Cryptorchidism, Absent pulmonary artery, Patent ductus arteriosus, Coa... OMIM:600460
Genitopalatocardiac Syndrome
Hydrocephalus, Postaxial hand polydactyly, Congenital diaphragmatic hernia, Brachydactyly ORPHA:2075
Hermansky-Pudlak Syndrome 7
Ocular albinism, Albinism OMIM:614076
Contractural Arachnodactyly, Congenital
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Mitral valve prolapse... OMIM:121050
Burn-Mckeown Syndrome
Atrial septal defect, Ventricular septal defect OMIM:608572
Prader-Willi Syndrome
Hypopigmentation of hair, Hypopigmentation of the skin ORPHA:739
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome
Atrial septal defect, Pulmonary artery stenosis, Ventricular septal defect ORPHA:75389
Suleiman-El-Hattab Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:618950
Scalp-Ear-Nipple Syndrome
Cardiac myxoma, Congestive heart failure, Agenesis of permanent teeth, Hypertension, Breast aplas... OMIM:181270
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Lateral ventricle dilatation OMIM:620075
Distal Renal Tubular Acidosis
Sensorineural hearing impairment, Enlarged vestibular aqueduct ORPHA:18
Exstrophy-Epispadias Complex
Hydrocephalus, Spina bifida, Abnormal heart morphology ORPHA:322
Dyskeratosis Congenita
Abnormal eyebrow morphology, Alopecia, Abnormal fingernail morphology, Hypermelanotic macule, Abn... ORPHA:1775
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Pulmonary hypoplasia OMIM:151210
Focal Dermal Hypoplasia
Ridged nail, Linear hyperpigmentation, Brittle hair, Supernumerary nipple, Hydrocephalus, Myelome... OMIM:305600
Kagami-Ogata Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Pul... OMIM:608149
Coffin-Siris Syndrome 7
Patent foramen ovale, Ventricular septal defect, Bicuspid aortic valve OMIM:618027
Radio-Renal Syndrome
Respiratory distress, Dyspnea, High, narrow palate, Downturned corners of mouth, Respiratory fail... ORPHA:3015
Diffuse Cutaneous Mastocytosis
Mixed hypo- and hyperpigmentation of the skin ORPHA:79456
Stüve-Wiedemann Syndrome
Hypothyroidism, Abnormal autonomic nervous system physiology, Ectopic thyroid ORPHA:3206
Kasabach-Merritt Syndrome
Respiratory distress, Reticulocytosis, Thrombocytopenia, Abnormal lymphatic vessel morphology, An... ORPHA:2330
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia, Pericardial ef... OMIM:235510
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Wide mouth, Short phi... ORPHA:2896
Noonan Syndrome 2
Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Patent ductus arteri... OMIM:605275
Bloom Syndrome
Sparse eyelashes, Paronychia, Patchy alopecia, Cafe-au-lait spot, Hypopigmentation of the skin ORPHA:125
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Severe B lymphocytopenia, Biliary hyperplasia, Contracture of the distal in... ORPHA:83617
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Ventriculomegaly ORPHA:488627
3P25.3 Microdeletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenosis, Atrial septal defect, Cor... ORPHA:435638
19P13.12 Microdeletion Syndrome
Aortic regurgitation, Ventricular septal defect, Mitral regurgitation, Atrial septal defect, Arrh... ORPHA:254346
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Ventricular septal defect OMIM:618348
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Ventricular septal defect, Dextrotransposition of the great arteries OMIM:619995
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Recurrent bronchopulmonary infections, Recurrent pneumonia, Bronchiectasis... OMIM:242700
Trisomy 1Q
Patent ductus arteriosus, Hydrocephalus, Ventricular septal defect ORPHA:261344
Brachydactyly, Type B1
Ventricular septal defect OMIM:113000
Short Stature With Microcephaly And Distinctive Facies
Sparse eyebrow, Spotty hyperpigmentation, Sparse scalp hair, Spotty hypopigmentation OMIM:615789
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Jaundice, Congestive heart failure OMIM:617156
Congenital Disorder Of Glycosylation, Type It
Tachycardia, Ventricular septal defect, Sudden cardiac death, Cardiomegaly, Dilated cardiomyopath... OMIM:614921
King-Denborough Syndrome
Ventricular septal defect OMIM:619542
Isolated Anencephaly
Congenital diaphragmatic hernia ORPHA:563609
Autosomal Dominant Spastic Paraplegia Type 10
Distal lower limb amyotrophy, Dupuytren contracture, Upper limb amyotrophy, Varicose veins, Leg m... ORPHA:100991
Menkes Disease
Gastrointestinal hemorrhage, Malabsorption, Venous insufficiency, Vascular dilatation, Aplasia/Hy... ORPHA:565
16Q24.3 Microdeletion Syndrome
Colpocephaly, Ventriculomegaly ORPHA:261250
19P13.3 Microduplication Syndrome
Pulmonary arterial hypertension, Ventricular septal defect ORPHA:447980
X-Linked Lissencephaly With Abnormal Genitalia
Patent ductus arteriosus, Ventricular septal defect ORPHA:452
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Partial agenesis of the corpus callosum, Normal pressure hydrocephalus, Lateral ventricle dilatation ORPHA:300570
Galloway-Mowat Syndrome 1
Hypopigmentation of the skin, Small nail OMIM:251300
Intellectual Developmental Disorder, Autosomal Dominant 47
Ventricular septal defect OMIM:617635
Nasolacrimal Duct Cyst
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... ORPHA:141083
Rodrigues Blindness
Ectodermal dysplasia, Nasal flaring, Tooth malposition OMIM:268320
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly OMIM:616897
Kapur-Toriello Syndrome
Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect ORPHA:2328
20Q13.33 Microdeletion Syndrome
Atrial septal defect, Dilation of Virchow-Robin spaces, Hypoplastic aortic arch, Abnormal cardiac... ORPHA:261311
Beaulieu-Boycott-Innes Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:613680
Plague
Respiratory distress, Chapped lip, Tachycardia, Hematemesis, Lymphadenitis, Splenomegaly, Enteroc... ORPHA:707
Eec Syndrome
Slow-growing hair, Sparse eyebrow, Nail pits, Fine hair, Coarse hair, Nail dystrophy, Generalized... ORPHA:1896
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Multiple cafe-au-lait spots, Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Fine ... ORPHA:2637
Vacterl/Vater Association
Occipital encephalocele, Finger syndactyly, Congenital diaphragmatic hernia, Preaxial hand polyda... ORPHA:887
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Multinodular goiter OMIM:620189
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... OMIM:604292
Thauvin-Robinet-Faivre Syndrome
Transient neutropenia, Ventricular septal defect, Mitral valve prolapse, Macroglossia, Varicose v... OMIM:617107
Braddock-Carey Syndrome 1
Aortic valve prolapse, Ventricular septal defect OMIM:619980
Noonan Syndrome 4
Atrial septal defect, Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis OMIM:610733
15Q14 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:261190
Diamond-Blackfan Anemia 5
Ventricular septal defect OMIM:612528
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Abnormal tricuspid val... ORPHA:199276
Pachyonychia Congenita
Respiratory distress, Natal tooth, Angular cheilitis, Advanced eruption of teeth, Oral leukoplakia ORPHA:2309
You-Hoover-Fong Syndrome
Coarctation of aorta, Double aortic arch, Vascular ring OMIM:616954
Friedreich Ataxia 2
Abnormal EKG, Abnormality of the dorsal column of the spinal cord, Congestive heart failure, Conc... OMIM:601992
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Dental crowding, Deep philtrum, Gingivitis, Periodontitis, Death in infancy,... ORPHA:534
Pontocerebellar Hypoplasia, Type 8
Ventricular septal defect, Patent foramen ovale OMIM:614961
Adrenomyeloneuropathy
Atrophy of the spinal cord, Abnormal spinal cord morphology, Primary adrenal insufficiency, Adren... ORPHA:139399
Cutis Laxa, Autosomal Recessive, Type Ib
Congenital diaphragmatic hernia, Arterial tortuosity, Emphysema, Aortic root aneurysm, High palat... OMIM:614437
Warsaw Breakage Syndrome
Tetralogy of Fallot, Ventricular septal defect OMIM:613398
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly OMIM:617260
Hermansky-Pudlak Syndrome 5
Iris transillumination defect, Ocular albinism, Albinism OMIM:614074
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Hypoventilation, Cyanosis, Decreased response to growth hormone stimulation test, Central hypoven... ORPHA:293987
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog... OMIM:618748
Costello Syndrome
Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse ORPHA:3071
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy OMIM:208085
Chromosome 1Q41-Q42 Deletion Syndrome
Ventricular septal defect, Holoprosencephaly OMIM:612530
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Cryptorchidism, Dyspnea, High, narrow palate, Subm... ORPHA:2554
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... ORPHA:73224
3Mc Syndrome 1
Conjunctival telangiectasia, Ventricular septal defect, Patent ductus arteriosus, Atrial septal d... OMIM:257920
Char Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:46627
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae ORPHA:51188
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Right ventricular hypertrophy OMIM:613404
Osteogenesis Imperfecta, Type X
Respiratory distress, Pyloric stenosis, Recurrent pneumonia, Death in childhood, Dentinogenesis i... OMIM:613848
Spondylo-Ocular Syndrome
Ventricular septal defect ORPHA:85194
Sifrim-Hitz-Weiss Syndrome
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... OMIM:617159
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... OMIM:129900
Chromomycosis
Hypopigmented skin patches ORPHA:182
Trisomy 13
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:3378
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:220500
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Alopecia, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Generalized hypopigmentation OMIM:619321
Chromosome 9P Deletion Syndrome
Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... OMIM:158170
16P13.11 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect, Holoprosencephaly ORPHA:261236
Wars2-Related Combined Oxidative Phosphorylation Defect
Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly ORPHA:572798
Phocomelia, Schinzel Type
Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo... ORPHA:2879
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased res... ORPHA:273
Lymphedema-Distichiasis Syndrome
Cleft upper lip, Spinal arachnoid cyst, Patent ductus arteriosus, Cleft palate, Varicose veins, A... ORPHA:33001
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
Atrial septal defect, Ventricular septal defect OMIM:617452
Diaphragmatic Hernia 4, With Cardiovascular Defects
Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplasia, Cryptorchi... OMIM:620025
Milroy Disease
Hydrocele testis, Varicose veins, Abnormal venous morphology ORPHA:79452
Lymphatic Malformation 6
Splenomegaly, Hydrocele testis, Intestinal lymphangiectasia, Varicose veins, Chylothorax, Atrial ... OMIM:616843
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart morphology, Ascending tubular ao... ORPHA:453499
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7
Portal hypertension, Cryptorchidism, Thrombocytopenia, Premature graying of hair, Pulmonary fibro... OMIM:620365
X-Linked Cerebral Adrenoleukodystrophy
Decreased circulating cortisol level, Myelopathy, Abnormal spinal cord morphology, Primary adrena... ORPHA:139396
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Lateral ventricle dilatation OMIM:619847
Cardiofacioneurodevelopmental Syndrome
Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis OMIM:619123
Brittle Cornea Syndrome
Abnormality of hair pigmentation ORPHA:90354
Familial Tumoral Calcinosis
Hypopigmented skin patches ORPHA:53715
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Synophrys, Hypopigmentation of the skin OMIM:301066
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... ORPHA:93322
Kleefstra Syndrome 1
Cryptorchidism, Natal tooth, Conotruncal defect, Persistence of primary teeth OMIM:610253
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Ventricular septal defect, Cryptorchidism, Hydrocephalus, Patent ductus arter... ORPHA:163979
Isotretinoin Embryopathy-Like Syndrome
Hydrocephalus, Conotruncal defect OMIM:243440
Gjc2-Related Late-Onset Primary Lymphedema
Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... ORPHA:568051
Rere-Related Neurodevelopmental Syndrome
Ventricular septal defect, Abnormal heart morphology ORPHA:494344
Degcags Syndrome
Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... OMIM:619488
Combined Oxidative Phosphorylation Defect Type 39
Lateral ventricle dilatation ORPHA:565624
Diamond-Blackfan Anemia 7
Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... OMIM:612562
Fanconi Anemia, Complementation Group D2
Hydrocephalus, Prolonged G2 phase of cell cycle, Abnormality of skin pigmentation, Cafe-au-lait s... OMIM:227646
Adnp Syndrome
Respiratory distress, Thin upper lip vermilion, Cryptorchidism, Recurrent upper respiratory tract... ORPHA:404448
Congenital Disorder Of Glycosylation, Type Iig
Lateral ventricle dilatation OMIM:611209
Wrinkly Skin Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Decreased muscle mass, Carious tee... ORPHA:2834
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:505237
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617061
Mosaic Variegated Aneuploidy Syndrome 2
Aortic regurgitation, Ventricular septal defect, Coarctation of aorta, Subvalvular aortic stenosi... OMIM:614114
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Thin upper lip vermilion, Abnormality of the dentition, Cyst of the ductus ... ORPHA:480880
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251110
Codas Syndrome
Ventricular septal defect ORPHA:1458
Duane Retraction Syndrome
Central heterochromia, Patchy hypopigmentation of hair, Hypopigmented skin patches, Low posterior... ORPHA:233
Kury-Isidor Syndrome
Ventricular septal defect OMIM:619762
Beck-Fahrner Syndrome
Ventricular septal defect, Cardiomegaly OMIM:618798
Van Esch-O'Driscoll Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Spina bifida occulta, Atrial septal defect,... OMIM:301030
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Ventricular septal defect OMIM:616901
Autosomal Dominant Hypocalcemia
Congestive heart failure, Arrhythmia, Abnormal pattern of respiration, Hypotension ORPHA:428
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Lateral ventricle dilatation, Dilated third ventricle ORPHA:544488
Lissencephaly 9 With Complex Brainstem Malformation
Ventricular septal defect OMIM:618325
Myopathy With Extrapyramidal Signs
Ventricular septal defect OMIM:615673
Mosaic Trisomy 16
Ventricular septal defect, Large placenta, Patent ductus arteriosus, Abnormal heart morphology, C... ORPHA:1708
Orofaciodigital Syndrome Vi
Posteriorly rotated ears, Low-set ears, Conductive hearing impairment, Occipital meningocele, Per... OMIM:277170
Combined Oxidative Phosphorylation Deficiency 15
Wolff-Parkinson-White syndrome, Ventricular septal defect, Shortened PR interval, Ventricular sep... OMIM:614947
Hyperoxaluria, Primary, Type I
Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Peripheral arterial stenosis, Atrioventr... OMIM:259900
Congenital Erythropoietic Porphyria
Scarring alopecia of scalp, Loss of eyelashes, Facial hypertrichosis, Hypopigmentation of the ski... ORPHA:79277
Tetragametic Chimerism
Hypopigmented skin patches ORPHA:199310
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect ORPHA:457193
Autosomal Recessive Faciodigitogenital Syndrome
Dry hair, Coarse hair, Hypopigmentation of hair, Widow's peak ORPHA:1974
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Patent ductus arteriosus, Ventricular septal defect ORPHA:52055
Duane-Radial Ray Syndrome
Atrial septal defect, Spina bifida occulta, Ventricular septal defect, Vascular dilatation OMIM:607323
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Atrial septal defect... ORPHA:457279
Kleefstra Syndrome
Ventricular septal defect, Bicuspid aortic valve, Pulmonary artery stenosis, Coarctation of aorta... ORPHA:261494
Familial Dysautonomia
Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Abnormal pleura morpholog... ORPHA:1764
Ritscher-Schinzel Syndrome 2
Atrial septal defect, Pulmonary artery hypoplasia, Patent ductus arteriosus, Ventricular septal d... OMIM:300963
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Ventricular septal defect, Abnormal heart morphology ORPHA:404440
Heart And Brain Malformation Syndrome
Ventricular septal defect, Interrupted aortic arch OMIM:616920
Weaver Syndrome
Umbilical hernia, Lateral ventricle dilatation, Ventriculomegaly OMIM:277590
Den Hoed-De Boer-Voisin Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:619229
Teebi Hypertelorism Syndrome 1
Atrial septal defect, Aortic root aneurysm, Ventricular septal defect OMIM:145420
Basel-Vanagaite-Smirin-Yosef Syndrome
Atrial septal defect, Pulmonary arterial hypertension, Ventricular septal defect OMIM:616449
Donnai-Barrow Syndrome
Umbilical hernia, Ventricular septal defect OMIM:222448
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities
Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation OMIM:619575
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress, Delayed eruption of primary teeth, High, nar... OMIM:119600
Knobloch Syndrome 1
Occipital encephalocele, Optic disc pallor, Iris transillumination defect, Alopecia of scalp, Per... OMIM:267750
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Pancytopenia, Anemia, Neutropenia, Thrombocytopenia OMIM:251100
Insulin-Like Growth Factor I, Resistance To
Atrial septal defect, Ventricular septal defect, Patent foramen ovale OMIM:270450
Weill-Marchesani Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Mitral regurgitation, Pulmonic stenosis, Aor... OMIM:277600
Filippi Syndrome
Ventricular septal defect ORPHA:3255
Ververi-Brady Syndrome
Transposition of the great arteries OMIM:617982
Holoprosencephaly 7
Alobar holoprosencephaly, Hydrocephalus, Partial agenesis of the corpus callosum, Synophrys, Loba... OMIM:610828
Osteopetrosis, Autosomal Recessive 7
Hydrocephalus, Lateral ventricle dilatation OMIM:612301
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Skeletal muscle atrophy, Jaundice, Prolonged neonatal jaundice OMIM:256810
Cystinosis, Nephropathic
Retinal pigment epithelial mottling, Hypopigmentation of hair, Hypopigmentation of the skin, Pigm... OMIM:219800
Peroxisome Biogenesis Disorder 5A (Zellweger)
Colpocephaly, Agenesis of corpus callosum OMIM:614866
Renal Nutcracker Syndrome
Orthostatic hypotension, Tachycardia, Vulval varicose vein, Varicose veins, Syncope, Renal artery... ORPHA:71273
Oculocerebral Hypopigmentation Syndrome, Cross Type
Hypopigmentation of hair, Ocular albinism, Iris hypopigmentation ORPHA:2719
Microphthalmia With Limb Anomalies
Death in infancy, Macrodontia, Cleft upper lip, Venous insufficiency, Cryptorchidism, Hydrocephal... ORPHA:1106
Seckel Syndrome 9
Atrial septal defect, Pulmonary artery hypoplasia, Ventricular septal defect OMIM:616777
Mycophenolate Mofetil Embryopathy
Hydrocephalus, Ventricular septal defect, Coarctation of aorta ORPHA:268249
Noonan Syndrome 14
Lateral ventricle dilatation OMIM:619745
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Recurrent respiratory infections, Dilation of Virchow-Robin spaces, Facial ... OMIM:615273
Cog5-Cdg
Lateral ventricle dilatation ORPHA:263487
Fanconi Anemia, Complementation Group N
Ventricular septal defect OMIM:610832
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Ventricular septal defect OMIM:620073
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Lymphadenitis, Recurrent pneumonia, Splenomegaly, Lymphadenopathy, Impaired oxidativ... OMIM:306400
Hereditary Acrokeratotic Poikiloderma
Hypopigmented skin patches, Nail dystrophy, Irregular hyperpigmentation, Dystrophic fingernails, ... ORPHA:2907
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Lateral ventricle dilatation OMIM:607485
Dysosteosclerosis
Ventricular septal defect ORPHA:1782
Basel-Vanagaite-Smirin-Yosef Syndrome
Lateral ventricle dilatation, Dilated third ventricle, Agenesis of corpus callosum ORPHA:464738
Pancreatic insufficiency, combined exocrine
Congestive heart failure, Anal atresia OMIM:260450
Larsen Syndrome
Ventricular septal defect, Spinal cord compression, Atrial septal defect, Spina bifida occulta, A... OMIM:150250
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Tachycardia, Ventricular septal defect, Retinal hemorrhage, Hypertension, Bradycardia OMIM:614653
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Lateral ventricle dilatation, Choroid plexus cyst ORPHA:293725
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Ventricular septal defect, Dysplastic pulmonary valve OMIM:619103
Recombinant 8 Syndrome
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Atrial septal def... ORPHA:96167
Radio-Tartaglia Syndrome
Ventricular septal defect OMIM:619312
Kapur-Toriello Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:244300
Xeroderma Pigmentosum
Alopecia, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Freckling ORPHA:910
Superficial Siderosis
Subarachnoid hemorrhage, Atrophy of the spinal cord, Abnormal spinal cord morphology, Abnormality... ORPHA:247245
Orotic Aciduria
Atrial septal defect, Ventricular septal defect OMIM:258900
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Lateral ventricle dilatation ORPHA:2148
Genitourinary And/Or Brain Malformation Syndrome
Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Holoprosencephaly OMIM:618820
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Coronary artery fistul... OMIM:620024
Bainbridge-Ropers Syndrome
Lateral ventricle dilatation OMIM:615485
Koolen-De Vries Syndrome
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Aortic root aneurysm,... OMIM:610443
Lethal Congenital Contracture Syndrome 10
Overriding aorta, Ventricular septal defect, Cardiomegaly OMIM:617022
Koolen-De Vries Syndrome
Hypopigmentation of hair, Abnormality of hair texture ORPHA:96169
Lathosterolosis
Meningocele, Hearing impairment ORPHA:46059
X Small Rings
Ventricular septal defect, Mitral stenosis, Bicuspid aortic valve, Aortic root aneurysm ORPHA:96201
Khan-Khan-Katsanis Syndrome
Colpocephaly, Ventriculomegaly OMIM:618460
Mosaic Trisomy 1
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:1692
Renal Agenesis
Hypertension, Ventricular septal defect ORPHA:411709
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Ventricular septal defect, Bicuspid aortic valve, Patent ductus arteriosus, Pulmonic stenosis, At... OMIM:610759
Short Stature-Micrognathia Syndrome
Ventricular septal defect OMIM:617164
Aicardi-Goutieres Syndrome 9
Lateral ventricle dilatation OMIM:619487
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Atrial septal defect, Ascending tubular aorta aneurysm, Ventricular septal defect OMIM:309520
Developmental Delay With Or Without Dysmorphic Facies And Autism
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Umbilical hernia, Pulm... OMIM:618454
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Patent ductus arteriosus, Ventricular septal defect OMIM:106260
Brachytelephalangic Chondrodysplasia Punctata
Ventricular septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Cervical cord com... ORPHA:79345
Osteoglophonic Dysplasia
Respiratory distress, Delayed eruption of teeth, Camptodactyly of finger, Cryptorchidism, Eruptio... OMIM:166250
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Atrial septal defect, Pulmonary artery stenosis, Dilation of Virchow-Robin spaces, Ventricular se... OMIM:300998
Specc1L-Related Hypertelorism Syndrome
Ventricular septal defect, Patent ductus arteriosus, Atrial septal defect, Umbilical hernia, Arrh... ORPHA:1519
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
Patent ductus arteriosus, Ventricular septal defect OMIM:300472
Loeys-Dietz Syndrome 5
Ventricular septal defect, Mitral regurgitation, Aortic root aneurysm, Ascending aortic dissectio... OMIM:615582
Opitz Gbbb Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Persistent left s... ORPHA:2745
Neurofibromatosis Type 1
Abnormal hair quantity, Abnormality of retinal pigmentation, Generalized hyperpigmentation, Hydro... ORPHA:636
19Q13.11 Microdeletion Syndrome
Ventricular septal defect ORPHA:217346
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Multiple joint contractures, Secundum atrial septal defect, Subarterial ven... ORPHA:99646
Solitary Bone Cyst
Abnormal spinal cord morphology ORPHA:83468
Osteopathia Striata With Cranial Sclerosis
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Spina b... OMIM:300373
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia, Thyroid lymph... OMIM:235255
Trichothiodystrophy 4, Nonphotosensitive
Ventricular septal defect OMIM:234050
Sarcoidosis
Heart block, Abnormal lung morphology, Increased T cell count, Ventricular tachycardia, Leukopeni... ORPHA:797
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines, Sparse scalp h... OMIM:210720
Tetrasomy 9P
Absent gallbladder, Juxtaductal coarctation of the aorta, Pericarditis, Dextrocardia, Short neck,... ORPHA:3310
Marshall-Smith Syndrome
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Premature ventricular contrac... OMIM:602535
Holt-Oram Syndrome
Secundum atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Hypoplastic l... OMIM:142900
Restrictive Dermopathy
Natal tooth, Atrial septal defect, Dextrocardia, Aplasia/Hypoplastia of the eccrine sweat glands,... ORPHA:1662
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Telangiectasia of the skin, Abnormal cerebral vascular morphology, Hy... ORPHA:276280
Meige Disease
Lymph node hypoplasia, Pleural effusion, Varicose veins, Absence of lymph node germinal center ORPHA:90186
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia ORPHA:96097
Robinow Syndrome, Autosomal Dominant 3
Tricuspid regurgitation, Ventricular septal defect, Hypoplastic right heart, Patent ductus arteri... OMIM:616894
Ogden Syndrome
Atrial septal defect, Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, ... OMIM:300855
Chops Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale, Anomalous pulmonary ve... OMIM:616368
Poland Syndrome
Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Abnormal morphology of ulna, C... ORPHA:2911
7Q11.23 Microduplication Syndrome
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Atrial septal defect, Aortic ... ORPHA:96121
Amoebiasis Due To Free-Living Amoebae
Myocardial necrosis, Stiff neck, Facial palsy, Abnormal spinal cord morphology, Nuchal rigidity, ... ORPHA:68
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Umbilical hernia, Perimembranous ventricular septal defect, Ventricular septal defect OMIM:301040
Mckusick-Kaufman Syndrome
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Atrial septal defect... ORPHA:2473
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ventricular septal defect OMIM:243150
Opitz Gbbb Syndrome
Umbilical hernia, Ventricular septal defect OMIM:300000
Jacobsen Syndrome
Atrial septal defect, Hydrocephalus, Ventricular septal defect, Holoprosencephaly OMIM:147791
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Lacunar stroke, Varicose veins, Stroke, Vascular granular osmiophilic material deposition OMIM:125310
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects
Colpocephaly OMIM:620083
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ... OMIM:614748
Kindler Syndrome
Ridged nail, Spotty hyperpigmentation, Spotty hypopigmentation OMIM:173650
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia
Cryptorchidism, Torticollis, Varicose veins OMIM:314300
Fanconi Anemia, Complementation Group E
Cafe-au-lait spot, Prolonged G2 phase of cell cycle, Hyperpigmentation of the skin OMIM:600901
Hermansky-Pudlak Syndrome 10
Ocular albinism, Albinism OMIM:617050
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Chronic lung disease, P... ORPHA:95455
Oculodentodigital Dysplasia
Umbilical hernia, Arrhythmia, Ventricular septal defect ORPHA:2710
Fanconi Anemia, Complementation Group A
Abnormality of skin pigmentation, Cafe-au-lait spot, Prolonged G2 phase of cell cycle OMIM:227650
Hajdu-Cheney Syndrome
Mitral stenosis, Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Syringomyeli... ORPHA:955
C Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:211750
Coffin-Siris Syndrome 4
Ventricular septal defect, Mitral atresia, Patent ductus arteriosus, Pulmonic stenosis, Atrial se... OMIM:614609
Smith-Lemli-Opitz Syndrome
Hydrocephalus, Partial agenesis of the corpus callosum, Colpocephaly, Holoprosencephaly, Dandy-Wa... OMIM:270400
Chand Syndrome
Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal oral frenulum morphology, Agenes... ORPHA:1401
Semilobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:220386
Alobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93926
Lobar Holoprosencephaly
Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end... ORPHA:93924
Chromosome 13Q14 Deletion Syndrome
Umbilical hernia, Ventricular septal defect, Patent foramen ovale, Holoprosencephaly OMIM:613884
Glomuvenous Malformation
Oral mucosa nodule, Gastrointestinal arteriovenous malformation, Arteriovenous malformation, Gene... ORPHA:83454
Zellweger Syndrome
Ventricular septal defect ORPHA:912
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Abnormal spinal cord morphology, Abnormal sensory nerve conduction velocity ORPHA:88628
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Hydrocephalus, Hypoplastic aortic arch, Optic nerve hypoplasia ORPHA:457284
Cerebellar-Facial-Dental Syndrome
Abnormal T-wave, Ascending tubular aorta aneurysm, Ventricular septal defect, Mitral valve prolapse ORPHA:444072
Autosomal Recessive Spastic Paraplegia Type 11
Lateral ventricle dilatation ORPHA:2822
Paternal Uniparental Disomy Of Chromosome 6
Umbilical hernia, Patent ductus arteriosus, Ventricular septal defect, Cardiomegaly ORPHA:96191
Hardikar Syndrome
Ventricular septal defect, Portal hypertension, Hematemesis, Patent ductus arteriosus, Partial an... OMIM:301068
Biliary, Renal, Neurologic, And Skeletal Syndrome
Aqueductal stenosis, Secundum atrial septal defect, Primum atrial septal defect, Inlet ventricula... OMIM:619534
Bohring-Opitz Syndrome
Atrial septal defect, Ventricular septal defect OMIM:605039
Capillary Malformation Of The Lower Lip, Lymphatic Malformation Of Face And Neck, Asymmetry Of Face And Limbs, And Partial/Generalized Overgrowth
Varicose veins, Capillary malformation of the lip, Venous malformation OMIM:613089
Apert Syndrome
Hydrocephalus, Overriding aorta, Ventricular septal defect OMIM:101200
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Lateral ventricle dilatation, Ventriculomegaly OMIM:619479
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Aortic regurgitation, Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Hypertr... OMIM:607721
Ulnar-Mammary Syndrome
Arrhythmia, Ventricular septal defect ORPHA:3138
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Cardiomegaly, Patent du... OMIM:300967
Gabriele-De Vries Syndrome
Lateral ventricle dilatation OMIM:617557
Hand-Foot-Genital Syndrome
Ventricular septal defect ORPHA:2438
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Ventricular septal defect, Cardiac conduction abnormality, Patent ductus a... ORPHA:353281
Systemic Sclerosis
Alopecia, Irregular hyperpigmentation, Spotty hypopigmentation, Nail bed telangiectasia ORPHA:90291
Phelan-Mcdermid Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:606232
Acute Disseminated Encephalomyelitis
Nuchal rigidity, Abnormal spinal cord morphology, Myelitis ORPHA:83597
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Ventricular septal defect OMIM:609460
Trichothiodystrophy
Cardiomyopathy, Umbilical hernia, Ventricular septal defect ORPHA:33364
Orofaciodigital Syndrome V
Tetralogy of Fallot, Ventricular septal defect OMIM:174300
3Q29 Microduplication Syndrome
Ventricular septal defect ORPHA:251038
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Ventricular septal defect, Hydrocephalus, Abnormal heart morphology, Mitral valve prolapse, Mitra... ORPHA:363700
Meier-Gorlin Syndrome 7
Ventricular septal defect, Heart block, Complete atrioventricular canal defect, Second degree atr... OMIM:617063
Coffin-Lowry Syndrome
Cutis marmorata, Rectal prolapse, Thick lower lip vermilion, Dental malocclusion, Narrow palate, ... OMIM:303600
Marden-Walker Syndrome
Ventricular septal defect, Dextrocardia, Situs inversus totalis, Hydrocephalus, Abnormal anatomic... ORPHA:2461
Fanconi Anemia, Complementation Group C
Cafe-au-lait spot, Prolonged G2 phase of cell cycle, Hyperpigmentation of the skin OMIM:227645
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination
Lateral ventricle dilatation, Short umbilical cord OMIM:618367
Alström Syndrome
Respiratory distress, Abnormality of dental color, Decreased response to growth hormone stimulati... ORPHA:64
Diets-Jongmans Syndrome
Umbilical hernia, Interrupted inferior vena cava with azygous continuation, Ventricular septal de... OMIM:618846
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Pancreatic lymphangiectasis, Ventricular septal defect, Pulmonary lymphangiectasia ORPHA:1655
Chromosome 14Q11-Q22 Deletion Syndrome
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale OMIM:613457
Carpenter Syndrome 2
Dextrocardia, Supernumerary nipple, Short neck, Bilateral cryptorchidism, Cryptorchidism, Patent ... OMIM:614976
Hajdu-Cheney Syndrome
Patent ductus arteriosus, Umbilical hernia, Hydrocephalus, Ventricular septal defect OMIM:102500
Teebi-Shaltout Syndrome
Aortic valve stenosis, Ventricular septal defect OMIM:272950
Congenital Disorder Of Glycosylation, Type Iia
Ventricular septal defect OMIM:212066
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Branchial anomaly, A... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Ventricular septal defect, Bicuspid aortic valve, Abnormal heart morphology, Branchial anomaly, A... ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 53
Ventricular septal defect OMIM:617798
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Neonatal death, Congenital diaphragmatic hernia OMIM:194080
Cerebellofaciodental Syndrome
Ventricular septal defect, Mitral valve prolapse OMIM:616202
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aqueductal stenosis, Hydrocephalus, Patent ductus arteriosus, Tetralog... OMIM:154400
Costello Syndrome
Ventricular septal defect, Hydrocephalus, Mitral valve prolapse, Arrhythmia, Pulmonic stenosis, A... OMIM:218040
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Ventricular septal defect ORPHA:251028
Craniofacioskeletal Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect, Interrupted aortic arch OMIM:300712
Rabson-Mendenhall Syndrome
Atrial septal defect, Cardiomyopathy, Ventricular septal defect ORPHA:769
Arima Syndrome
Dilated fourth ventricle, Occipital meningocele, Optic atrophy OMIM:243910
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly
Ventricular septal defect OMIM:615503
Thoracic Outlet Syndrome
Varicose veins ORPHA:97330
Clapo Syndrome
Varicose veins, Capillary malformation of the lip, Venous malformation ORPHA:168984
Kaufman Oculocerebrofacial Syndrome
Atrial septal defect, Ventricular septal defect, Coarctation of aorta OMIM:244450
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Thin upper lip vermilion, Asthma, Nasal flaring, Downturned corners of mouth, Wide mouth ORPHA:466943
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic regurgitation, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:464311
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Ventricular septal defect OMIM:178110
Retinitis Pigmentosa With Or Without Skeletal Anomalies
Ventricular septal defect OMIM:250410
Pmm2-Cdg
Respiratory distress, Thin upper lip vermilion, Pericarditis, Multiple joint contractures, Angina... ORPHA:79318
Cohen Syndrome
Ventricular septal defect, Mitral valve prolapse ORPHA:193
Tbck-Related Intellectual Disability Syndrome
Ventricular septal defect, Pulmonic stenosis ORPHA:488632
Peroxisome Biogenesis Disorder 1A (Zellweger)
Patent ductus arteriosus, Ventricular septal defect OMIM:214100
Catel-Manzke Syndrome
Overriding aorta, Ventricular septal defect, Dextrocardia, Coarctation of aorta, Umbilical hernia OMIM:616145
Spinocerebellar Ataxia Type 7
Congestive heart failure ORPHA:94147
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome
Colpocephaly ORPHA:477993
Helsmoortel-Van Der Aa Syndrome
Lateral ventricle dilatation, Ventriculomegaly OMIM:615873
Orofaciodigital Syndrome Xiv
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Holoprosencephaly, ... OMIM:615948
Ulbright-Hodes Syndrome
Respiratory distress, Cryptorchidism, Pneumothorax, Respiratory failure, Thin vermilion border, H... ORPHA:3404
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Atrial septal defect, Tricuspid regurgitation, Ventricular septal defect OMIM:263520
Chime Syndrome
Pulmonary valve atresia, Tetralogy of Fallot, Ventricular septal defect, Transposition of the gre... ORPHA:3474
Liposarcoma
Varicose veins ORPHA:69078
Myhre Syndrome
Ventricular septal defect, Pericardial effusion, Patent ductus arteriosus, Coarctation of aorta, ... OMIM:139210
Dyrk1A-Related Intellectual Disability Syndrome
Aortic regurgitation, Aortic valve stenosis, Patent ductus arteriosus, Ventricular septal defect ORPHA:464306
Yunis-Varon Syndrome
Ventricular septal defect, Cardiomegaly, Hydrocephalus, Renovascular hypertension, Hypertension, ... ORPHA:3472
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect OMIM:619306
Codas Syndrome
Atrial septal defect, Atrioventricular canal defect, Ventricular septal defect OMIM:600373
Omodysplasia 1
Atrial septal defect, Umbilical hernia, Pulmonary artery stenosis, Ventricular septal defect OMIM:258315
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Ventricular septal defect, Bicuspid aortic valve, Spinal cord compression, Mitral regurgitation, ... OMIM:271640
Simpson-Golabi-Behmel Syndrome
Prolonged QT interval, Bundle branch block, Ventricular septal defect, Cardiomyopathy, Atrial sep... ORPHA:373
2Q31.1 Microdeletion Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:251014
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Atrial septal defect, Partial anomalous pulmonary venous return, Ventricular septal defect, Semil... OMIM:301044
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Lateral ventricle dilatation OMIM:300868
Okamoto Syndrome
Tethered cord, Ventricular septal defect, Abnormal left ventricle morphology, Primum atrial septa... ORPHA:2729
Occipital Horn Syndrome
Hiatus hernia, Venous insufficiency, High, narrow palate, Jaundice, Esophagitis, Long philtrum, B... ORPHA:198
Coffin-Siris Syndrome
Ventricular septal defect, Patent ductus arteriosus, Abnormal heart morphology, Atrial septal def... ORPHA:1465
Varicose Veins
Varicose veins OMIM:192200
Trichohepatoneurodevelopmental Syndrome
Patent ductus arteriosus, Ventricular septal defect OMIM:618268
6Q Terminal Deletion Syndrome
Colpocephaly ORPHA:75857
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Aplasia/Hypoplasia involving the carpal bones, Radial bowing, Aplasia of the ulna, Split hand, El... OMIM:276820
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormal lateral ventricle morphology ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormal lateral ventricle morphology ORPHA:353277
Alzahrani-Kuwahara Syndrome
Ventricular septal defect, Pulmonary artery sling, Coronary sinus enlargement, Persistent left su... OMIM:619268
Smith-Lemli-Opitz Syndrome
Ventricular septal defect, Patent ductus arteriosus, Holoprosencephaly, Atrial septal defect, Atr... ORPHA:818
X-Linked Intellectual Disability, Snyder Type
Sparse eyebrow, Synophrys, Patchy hypo- and hyperpigmentation ORPHA:3063
Keppen-Lubinsky Syndrome
Lateral ventricle dilatation OMIM:614098
Alagille Syndrome 1
Ventricular septal defect, Coarctation of aorta, Stroke, Renal artery stenosis, Atrial septal def... OMIM:118450
Simpson-Golabi-Behmel Syndrome, Type 1
Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Hydrocephalus, Patent ductus art... OMIM:312870
Williams-Beuren Syndrome
Bicuspid aortic valve, Ventricular septal defect, Portal hypertension, Retinal arteriolar tortuos... OMIM:194050
Neurocardiofaciodigital Syndrome
Dilated fourth ventricle, Lateral ventricle dilatation OMIM:619869
Liver Disease, Severe Congenital
Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Dilatation of the ventricular c... OMIM:619991
Familial Cerebral Cavernous Malformation
Venous malformation, Vascular skin abnormality, Spinal cord lesion, Cerebral hemorrhage ORPHA:221061
Early Infantile Epileptic Encephalopathy
Umbilical hernia, Ventricular septal defect ORPHA:1934
Tetraamelia Syndrome 1
Hydrocephalus, Congenital diaphragmatic hernia OMIM:273395
Pallister-Killian Syndrome
Sparse scalp hair, Alopecia, Sparse eyelashes, Supernumerary nipple, Sparse eyebrow, Sparse anter... OMIM:601803
Sotos Syndrome
Sparse anterior scalp hair, Small nail, Hypopigmentation of the skin, Hyperpigmentation of the skin ORPHA:821
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome
Patent ductus arteriosus, Ventricular septal defect, Cerebral hemorrhage OMIM:616682
Zttk Syndrome
Aortic regurgitation, Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:617140
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Patent ductus arteriosus, Ventricular septal defect, Patent foramen ovale OMIM:616975
Noonan Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Pulmonic stenosis, Atr... OMIM:163950
Microphthalmia, Syndromic 3
Patent ductus arteriosus, Ventricular septal defect OMIM:206900
Proboscis Lateralis
Patent ductus arteriosus, Ventricular septal defect, Holoprosencephaly ORPHA:141099
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic regurgitation, Ventricular septal defect, Abnormal pulmonary valve morphology, Abnormal he... ORPHA:268261
Townes-Brocks Syndrome 1
Tethered cord, Ventricular septal defect, Hydrocephalus, Holoprosencephaly, Atrial septal defect,... OMIM:107480
Coffin-Siris Syndrome 1
Ventricular septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Atrial septal defect, U... OMIM:135900
Mend Syndrome
Spotty hypopigmentation ORPHA:401973
Mend Syndrome
Spotty hypopigmentation OMIM:300960
Cornelia De Lange Syndrome 1
Ventricular septal defect OMIM:122470
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Dysplastic corpus callosum, Lateral ventricle dilatation, Ventricul... ORPHA:500150
Diamond-Blackfan Anemia
Radial artery aplasia, Ventricular septal defect, Coarctation of aorta, Abnormal heart morphology... ORPHA:124
Fryns Syndrome
Atrial septal defect, Stillbirth, Ventricular septal defect OMIM:229850
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Bicuspid aortic valve, Ventricular septal defect, Anomalous origin of left subclavian artery, Pat... ORPHA:438213
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect OMIM:613458
Isolated Arrhinia
Respiratory distress ORPHA:1134
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Ventricular septal defect OMIM:619418
Kabuki Syndrome 1
Hydrocephalus, Lateral ventricle dilatation OMIM:147920
Craniofacial Microsomia 1
Occipital encephalocele, Ventricular septal defect, Patent ductus arteriosus, Hydrocephalus, Coar... OMIM:164210
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Ventricular septal defect ORPHA:1071
Cerebrocostomandibular Syndrome
Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect OMIM:117650
Wolf-Hirschhorn Syndrome
Atrial septal defect, Hydrocephalus, Tethered cord, Ventricular septal defect OMIM:194190
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Atrial septal defect, Pulmonary artery stenosis, Dilatation of the ventricular cavity, Ventricula... ORPHA:459070
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Ventricular septal defect, Ventricular septal hypertrophy OMIM:608670
Renpenning Syndrome 1
Atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Situs inversus totalis OMIM:309500
Combined Immunodeficiency-Enteropathy Spectrum
Ventricular septal defect ORPHA:436252
Roberts-Sc Phocomelia Syndrome
Ventricular septal defect, Hydrocephalus, Frontal encephalocele, Patent ductus arteriosus, Stillb... OMIM:268300
Genitopatellar Syndrome
Colpocephaly, Agenesis of corpus callosum OMIM:606170
Mowat-Wilson Syndrome
Ventricular septal defect, Pulmonary artery sling, Patent ductus arteriosus, Pulmonary artery ste... OMIM:235730
Congenital Disorder Of Glycosylation, Type Iim
Lateral ventricle dilatation OMIM:300896
Peters-Plus Syndrome
Ventricular septal defect, Hydrocephalus, Patent ductus arteriosus, Pulmonic stenosis, Atrial sep... OMIM:261540
Craniotubular Dysplasia, Ikegawa Type
Ventricular septal defect OMIM:619727
Penile Agenesis
Atrial septal defect, Atrophy of the spinal cord, Ventricular septal defect ORPHA:49
Choreoacanthocytosis
Lateral ventricle dilatation ORPHA:2388
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Right aortic arch, Ventricular septal defect ORPHA:513456
Osteoporosis-Pseudoglioma Syndrome
Ventricular septal defect OMIM:259770
Ulnar-Mammary Syndrome
Arrhythmia, Ventricular septal defect OMIM:181450
Congenital Disorder Of Glycosylation, Type Iiw
Tetralogy of Fallot, Ventricular septal defect OMIM:619525
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Umbilical hernia, Ventricular septal defect OMIM:620330
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Atrial septal defect, Patent ductus arteriosus, Tethered cord, Ventricular septal defect OMIM:619522
Orofaciodigital Syndrome Type 14
Patent ductus arteriosus, Ventricular septal defect ORPHA:434179
Johanson-Blizzard Syndrome
Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A... OMIM:243800
Cornelia De Lange Syndrome
Atrial septal defect, Ventricular septal defect ORPHA:199
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Lateral ventricle dilatation, Agenesis of corpus callosum ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... ORPHA:261552
Norrie Disease
Venous insufficiency, Cryptorchidism, Thin vermilion border ORPHA:649
Yunis-Varon Syndrome
Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo... OMIM:216340
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment, Camptodactyly of finger ORPHA:1529
Craniofacial-Deafness-Hand Syndrome
Sensorineural hearing impairment OMIM:122880

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pax3

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pax3.

No publications found that use IMPC mice or data for Pax3.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Pax3tm1(NCOM)Mfgc Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Pax3tm208524(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors

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