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 |
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Atrophy of the spinal cord, Abnormal spinal cord morphology, Primary adrenal insufficiency, Adren... |
ORPHA:139399 |
Cutis Laxa, Autosomal Recessive, Type Ib |
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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 |
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Colpocephaly, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617260 |
Hermansky-Pudlak Syndrome 5 |
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Iris transillumination defect, Ocular albinism, Albinism |
OMIM:614074 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Hypoventilation, Cyanosis, Decreased response to growth hormone stimulation test, Central hypoven... |
ORPHA:293987 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Hypoplastic left heart, Tetralog... |
OMIM:618748 |
Costello Syndrome |
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Hypertrophic cardiomyopathy, Ventricular septal defect, Pulmonic stenosis, Mitral valve prolapse |
ORPHA:3071 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
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Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Right ventricular hypertrophy |
OMIM:208085 |
Chromosome 1Q41-Q42 Deletion Syndrome |
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Ventricular septal defect, Holoprosencephaly |
OMIM:612530 |
Ear-Patella-Short Stature Syndrome |
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Respiratory distress, Camptodactyly of finger, Cryptorchidism, Dyspnea, High, narrow palate, Subm... |
ORPHA:2554 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Pul... |
ORPHA:73224 |
3Mc Syndrome 1 |
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Conjunctival telangiectasia, Ventricular septal defect, Patent ductus arteriosus, Atrial septal d... |
OMIM:257920 |
Char Syndrome |
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Patent ductus arteriosus, Ventricular septal defect |
ORPHA:46627 |
Ethylmalonic Encephalopathy |
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Acrocyanosis, Petechiae |
ORPHA:51188 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
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Ventricular septal defect, Right ventricular hypertrophy |
OMIM:613404 |
Osteogenesis Imperfecta, Type X |
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Respiratory distress, Pyloric stenosis, Recurrent pneumonia, Death in childhood, Dentinogenesis i... |
OMIM:613848 |
Spondylo-Ocular Syndrome |
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Ventricular septal defect |
ORPHA:85194 |
Sifrim-Hitz-Weiss Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Atrial septal defect, ... |
OMIM:617159 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
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Sparse scalp hair, Sparse eyelashes, Sparse axillary hair, Sparse eyebrow, Sparse pubic hair, Blu... |
OMIM:129900 |
Chromomycosis |
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Hypopigmented skin patches |
ORPHA:182 |
Trisomy 13 |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
ORPHA:3378 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
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Atrial septal defect, Patent ductus arteriosus, Ventricular septal defect |
OMIM:220500 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Alopecia, Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Generalized hypopigmentation |
OMIM:619321 |
Chromosome 9P Deletion Syndrome |
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Ventricular septal defect, Patent ductus arteriosus, Heart murmur, Perimembranous ventricular sep... |
OMIM:158170 |
16P13.11 Microdeletion Syndrome |
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Atrial septal defect, Ventricular septal defect, Holoprosencephaly |
ORPHA:261236 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
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Dilated fourth ventricle, Lateral ventricle dilatation, Ventriculomegaly |
ORPHA:572798 |
Phocomelia, Schinzel Type |
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Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, Abnormal tibia morpholo... |
ORPHA:2879 |
Steinert Myotonic Dystrophy |
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Skeletal muscle atrophy, Tented upper lip vermilion, Intestinal pseudo-obstruction, Decreased res... |
ORPHA:273 |
Lymphedema-Distichiasis Syndrome |
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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 |
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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 |
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Hydrocele testis, Varicose veins, Abnormal venous morphology |
ORPHA:79452 |
Lymphatic Malformation 6 |
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Splenomegaly, Hydrocele testis, Intestinal lymphangiectasia, Varicose veins, Chylothorax, Atrial ... |
OMIM:616843 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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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 |
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Decreased circulating cortisol level, Myelopathy, Abnormal spinal cord morphology, Primary adrena... |
ORPHA:139396 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
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Lateral ventricle dilatation |
OMIM:619847 |
Cardiofacioneurodevelopmental Syndrome |
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Atrioventricular canal defect, Ventricular septal defect, Pulmonic stenosis |
OMIM:619123 |
Brittle Cornea Syndrome |
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Abnormality of hair pigmentation |
ORPHA:90354 |
Familial Tumoral Calcinosis |
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Hypopigmented skin patches |
ORPHA:53715 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
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Synophrys, Hypopigmentation of the skin |
OMIM:301066 |
Tibial Hemimelia |
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Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Cutaneous... |
ORPHA:93322 |
Kleefstra Syndrome 1 |
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Cryptorchidism, Natal tooth, Conotruncal defect, Persistence of primary teeth |
OMIM:610253 |
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome |
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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 |
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Venous insufficiency, Varicose veins, Hypoplasia of lymphatic vessels, Abnormal lymphatic vessel ... |
ORPHA:568051 |
Rere-Related Neurodevelopmental Syndrome |
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Ventricular septal defect, Abnormal heart morphology |
ORPHA:494344 |
Degcags Syndrome |
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Abnormal eyebrow morphology, Hypopigmentation of hair, Abnormal eyelash morphology, Synophrys, Lo... |
OMIM:619488 |
Combined Oxidative Phosphorylation Defect Type 39 |
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Lateral ventricle dilatation |
ORPHA:565624 |
Diamond-Blackfan Anemia 7 |
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Secundum atrial septal defect, Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal ... |
OMIM:612562 |
Fanconi Anemia, Complementation Group D2 |
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Hydrocephalus, Prolonged G2 phase of cell cycle, Abnormality of skin pigmentation, Cafe-au-lait s... |
OMIM:227646 |
Adnp Syndrome |
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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 |
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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 |
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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 |
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Atrial septal defect, Patent ductus arteriosus, Tethered cord, Ventricular septal defect |
OMIM:619522 |
Orofaciodigital Syndrome Type 14 |
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Patent ductus arteriosus, Ventricular septal defect |
ORPHA:434179 |
Johanson-Blizzard Syndrome |
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Ventricular septal defect, Portal hypertension, Situs inversus totalis, Dilated cardiomyopathy, A... |
OMIM:243800 |
Cornelia De Lange Syndrome |
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Atrial septal defect, Ventricular septal defect |
ORPHA:199 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Lateral ventricle dilatation, Agenesis of corpus callosum |
ORPHA:261537 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Bicuspid aortic valve, Ventricular septal defect, Abnormal pulmonary valve morphology, Pulmonary ... |
ORPHA:261552 |
Norrie Disease |
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Venous insufficiency, Cryptorchidism, Thin vermilion border |
ORPHA:649 |
Yunis-Varon Syndrome |
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Ventricular septal defect, Heart murmur, Cardiomyopathy, Pulmonary arterial hypertension, Tetralo... |
OMIM:216340 |
Rhabdomyosarcoma 2 |
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Alveolar rhabdomyosarcoma |
OMIM:268220 |
Craniofacial-Deafness-Hand Syndrome |
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Sensorineural hearing impairment, Camptodactyly of finger |
ORPHA:1529 |
Craniofacial-Deafness-Hand Syndrome |
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Sensorineural hearing impairment |
OMIM:122880 |