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Gene: Robo1 MGI:1274781

Gene Summary

Name:

roundabout guidance receptor 1

Synonyms:

DUTT1

Order Alleles

IMPC Data Collections

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
no spontaneous movement	Robo1^em1(IMPC)Mbp	HET	E18.5	0.00
abnormal behavior	Robo1^em1(IMPC)Mbp	HET	Early adult	1.30×10^-05
decreased anxiety-related response	Robo1^em1(IMPC)Mbp	HET	Early adult	1.93×10^-05
preweaning lethality, incomplete penetrance	Robo1^em1(IMPC)Mbp	HOM	Early adult	0.00
no spontaneous movement	Robo1^em1(IMPC)Mbp	HOM	E18.5	0.00
preweaning lethality, complete penetrance	Robo1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased locomotor activity	Robo1^em1(IMPC)Mbp	HET	Early adult	6.08×10^-06
decreased thigmotaxis	Robo1^em1(IMPC)Mbp	HET	Early adult	1.21×10^-05

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lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Dorso Ventral

120 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 Images

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MicroCT E18.5

Embryo reconstruction

8 Images

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Human diseases caused by Robo1 mutations

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

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

Human diseases associated with Robo1 (4 diseases)
Human diseases predicted to be associated with Robo1 (1718 diseases)

The table below shows human diseases associated to Robo1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Neurooculorenal Syndrome	Hypoplasia of the bladder, Ectopic posterior pituitary, Dextrocardia, Intestinal malrotation, Uni...	OMIM:620305
Pituitary Stalk Interruption Syndrome	Death in infancy, Septo-optic dysplasia	ORPHA:95496
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Anterior pituitary agenesis	OMIM:620303
Nystagmus 8, Congenital, Autosomal Recessive		OMIM:257400

The table below shows human diseases predicted to be associated to Robo1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Small Cell Cancer Of The Lung	Neoplasm of the lung	OMIM:182280
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ...	OMIM:231060
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Gray matter h...	OMIM:604213
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Sub-Cortical Nodular Heterotopia	Subcortical heterotopia, Abnormality of neuronal migration, Abnormal basal ganglia morphology, Hy...	ORPHA:101029
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Agyria, Microcephaly, Cortical dysplasia, Subcortical band heterotopia, Gray matter heterotopia, ...	OMIM:615411
Lissencephaly, X-Linked, 1	Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum...	OMIM:300067
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Hydronephrosis, Pulmonic stenosis	OMIM:264140
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Abnormality of th...	ORPHA:2838
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Schizencephaly	Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy	OMIM:269160
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Prune Belly Syndrome	Abnormality of the uterus, Vesicoureteral reflux, Atrial septal defect, Multicystic kidney dyspla...	ORPHA:2970
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Lissencephaly 3	Periventricular laminar heterotopia, Microcephaly, Polymicrogyria, Gray matter heterotopia, Lisse...	OMIM:611603
Craniofacial Conodysplasia	Spinal cord compression, Hydrocephalus	ORPHA:85168
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp...	OMIM:614039
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Microlissencephaly	Thick cerebral cortex, Subcortical heterotopia, Cerebral dysmyelination, Microcephaly, Periventri...	ORPHA:1083
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Recurrent viral pneu...	OMIM:619773
Pierre Robin Syndrome	Micrognathia, Pierre-Robin sequence, Cor pulmonale, Cleft palate, Glossoptosis	OMIM:261800
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Abnormality of the upper urinary tract...	ORPHA:2547
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
Lissencephaly 1	Subcortical band heterotopia, Abnormal cerebral white matter morphology, Gray matter heterotopia,...	OMIM:607432
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta...	ORPHA:70589
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu...	OMIM:611556
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Fallot Complex With Severe Mental And Growth Retardation	Double outlet right ventricle, Tetralogy of Fallot, Ventricular septal defect, Pulmonic stenosis	OMIM:601127
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
Nephronophthisis 14	Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Bicuspid aortic valve, Unilateral renal agenesis, Anomalous origin of left coronary artery from t...	OMIM:618845
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu...	OMIM:263000
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Bicuspid aortic valve, Dental crowding, Delayed eruption of primary teeth, Micrognat...	OMIM:616367
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Unilateral polymicrogyria, Microcephaly, Partial agenesis of the corpus callosum, Lissencephaly, ...	OMIM:610031
Congenital Pulmonary Airway Malformation	Respiratory insufficiency, Abnormal pleura morphology	ORPHA:2444
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Micrognathi...	ORPHA:1166
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Desquamative interstitial pneumo...	OMIM:265120
8P23.1 Duplication Syndrome	Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Long philtrum, Tetralogy of...	ORPHA:251076
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc...	OMIM:236730
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Hypospadias, Decreased response to growth hormone stimulation test, Mi...	OMIM:220210
Recombinant Chromosome 8 Syndrome	Thin upper lip vermilion, Ventricular septal defect, Abnormality of the dentition, Micrognathia, ...	OMIM:179613
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Paget Disease Of Bone 6	Left ventricular hypertrophy, Nephrocalcinosis, Coronary artery atherosclerosis	OMIM:616833
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Abnormality of t...	OMIM:617805
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular heterotopia, Microcephaly, Hypoplasia of the corpus callosum, Periventricular nod...	OMIM:608097
Prune Belly Syndrome	Hydroureter, Cryptorchidism, Patent ductus arteriosus, Xerostomia, Aplasia of the abdominal wall ...	OMIM:100100
Asbestos Intoxication	Reduced vital capacity, Reduced forced vital capacity, Atelectasis, Pleural thickening, Nonproduc...	ORPHA:2302
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Dysphagia, Respiratory failure, Aspi...	ORPHA:90117
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Micrognathia, Patent ductus arterio...	ORPHA:261290
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Larynx Atresia	Recurrent respiratory infections, Respiratory insufficiency	ORPHA:1202
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly	ORPHA:171703
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Meckel Syndrome, Type 8	Cleft upper lip, Pericardial effusion, Cleft palate, Polycystic kidney dysplasia, Ambiguous genit...	OMIM:613885
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement	OMIM:115210
Meckel Syndrome 13	Flexion contracture, Polycystic kidney dysplasia, Micrognathia	OMIM:617562
Thomas Syndrome	Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Hypoplasti...	ORPHA:3316
Diabetic Embryopathy	Ureteral duplication, Ventricular septal defect, Renal hypoplasia/aplasia, Micrognathia, Cryptorc...	ORPHA:1926
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Microcephaly, Hydrocephalus, Cortical dysplasia, Abnormality of neuronal migration, Abnormal corp...	OMIM:618709
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma...	ORPHA:500166
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Cortical dysplasia, Dysgenesis of the basal ganglia, Perisylvian po...	ORPHA:300573
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c...	OMIM:614019
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum...	OMIM:608647
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Hydronephrosis, Abnormal palate morphology	ORPHA:1450
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Polymicrogyria, Agenesis of corpus callosum	ORPHA:250972
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:607487
Congenital Heart Defects, Multiple Types, 5	Bicuspid aortic valve, Ventricular septal defect, Dilated cardiomyopathy, Aortic valve stenosis, ...	OMIM:617912
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Pulmonic stenosis	OMIM:616559
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Cleft palate, Upper limb phocomelia, Abnormal heart morphology, Abnormal cardiac ...	ORPHA:294975
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Abnormality of the urinary system, Bifid uvula	ORPHA:2669
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Classic Multiminicore Myopathy	Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture...	ORPHA:324604
Megabladder, Congenital	Multiple glomerular cysts, Ventricular septal defect, Bicuspid aortic valve, Left ventricular non...	OMIM:618719
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Holzgreve Syndrome	Renal agenesis, Cleft upper lip, Renal hypoplasia, Cleft palate, Hypoplastic left heart	OMIM:236110
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea...	OMIM:619602
Distal Triplication 15Q	Abnormal external genitalia, Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, F...	ORPHA:314588
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Respiratory tract infection, Hypersensitivity pneumonitis, Nonproductive cough, Chronic pulmonary...	ORPHA:79127
Trisomy 1Q	Microretrognathia, Multicystic kidney dysplasia, Small scrotum, Ventricular septal defect, Campto...	ORPHA:261344
Microcephaly-Capillary Malformation Syndrome	Ventricular septal defect, Hypoplasia of the maxilla, Vesicoureteral reflux, Cleft palate, Atrial...	OMIM:614261
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Pyloric stenosis, Nephrolithiasis, Vesicoureteral reflux, Vascular dilatation	OMIM:617219
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Abnormal internal genitalia, Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, R...	ORPHA:2973
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Cayler Cardiofacial Syndrome	Patent ductus arteriosus, Tetralogy of Fallot, Ventricular septal defect	OMIM:125520
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Infant Acute Respiratory Distress Syndrome	Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira...	ORPHA:70587
Nemaline Myopathy 9	Ventricular septal defect, Micrognathia, Cleft palate, High palate, Arthrogryposis multiplex cong...	OMIM:615731
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycys...	OMIM:173900
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Carpenter Syndrome 1	Hydroureter, Ventricular septal defect, External genital hypoplasia, Persistence of primary teeth...	OMIM:201000
Fanconi Anemia, Complementation Group O	External genital hypoplasia, Absent thumb, Short thumb, Cryptorchidism, Rectal atresia, Hypoplasi...	OMIM:613390
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Femoral-Facial Syndrome	Thin upper lip vermilion, Short femur, Renal hypoplasia/aplasia, Micrognathia, Cryptorchidism, Lo...	ORPHA:1988
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, External genital hypoplasia, Partial atrioventric...	OMIM:615996
Marden-Walker Syndrome	Skeletal muscle atrophy, Micrognathia, Epispadias, Bifid uvula, Abnormal penis morphology, Multic...	ORPHA:2461
Microcephaly 5, Primary, Autosomal Recessive	Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Hypoplasia of ...	OMIM:608716
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Testicular Anomalies With Or Without Congenital Heart Disease	Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysgenesis, Perineal hypospadias, Microp...	OMIM:615542
X-Linked Neurodegenerative Syndrome, Bertini Type	Death in infancy, Agenesis of corpus callosum	ORPHA:85334
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Atrial septal defect, Atrioventricul...	OMIM:265380
Idiopathic Acute Eosinophilic Pneumonia	Abnormal pleura morphology, Respiratory insufficiency, Restrictive ventilatory defect, Cough, Abn...	ORPHA:724
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Micrognathia, Nephropathy, Nephrocalcinosis, Renal tubular acidosis, A...	OMIM:208085
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C...	OMIM:615771
2p15-16.1 microdeletion syndrome	Hydronephrosis, Camptodactyly of finger	DECIPHER:70
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Ureteral dysgenesis, Renal agenesis, Anal atresia	OMIM:274265
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Ventricular septal defect, Proteinuria, Nephropathy, Nephrocalcinosis, Renal tubula...	OMIM:613404
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia, Reduced cerebral white matter volume	OMIM:618185
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
Bazex Syndrome	Neoplasm, Lung adenocarcinoma, Liposarcoma	ORPHA:166113
Acute Interstitial Pneumonia	Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackles, Atelect...	ORPHA:79126
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Pneumocystosis	Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough...	ORPHA:723
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Renal cyst	OMIM:615987
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Phenobarbital Embryopathy	Mandibular prognathia, Hypospadias, Aplasia/Hypoplasia of fingers, Unilateral cleft lip, Abnormal...	ORPHA:1919
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Micrognathia, Absent thumb, Short t...	OMIM:617516
Atrial Fibrillation, Familial, 6	Left ventricular hypertrophy, Left atrial enlargement	OMIM:612201
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Situs inversus totalis, Pancreatic cysts...	OMIM:267010
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Weyers Ulnar Ray/Oligodactyly Syndrome	Cleft upper lip, Micrognathia, Absent thumb, Hypoplasia of the radius, Hand oligodactyly, Cleft p...	OMIM:602418
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Abnormality of the dentition, Deep philtr...	OMIM:615398
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Ellis Van Creveld Syndrome	Abnormal oral mucosa morphology, Micromelia, Epispadias, Conical incisor, Atrial septal defect, M...	ORPHA:289
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Hydroureter, Abnormal dental morphology, Ventricular...	ORPHA:1458
Congenital Myopathy 21 With Early Respiratory Failure	Nocturnal hypoventilation, Dyspnea, Respiratory failure, Lipoid pneumonia	OMIM:620326
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Gillessen-Kaesbach-Nishimura Syndrome	Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, Abnormal heart morphology, Bi...	OMIM:263210
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Micropenis, Gingival bleeding, Left ventricular hypertrophy, Volvulus, ...	ORPHA:335
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Thick cerebral cortex, Lissencephaly, Hypoplasia of the corpus callosum, Periventricular ribbonli...	OMIM:618677
22Q11.2 Duplication Syndrome	Ventricular septal defect, Micrognathia, Urethral stenosis, Cleft palate, Hypoplastic left heart,...	ORPHA:1727
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Lissencephaly Due To Tuba1A Mutation	Agyria, Microcephaly, Hypoplastic anterior limbs of the internal capsule, Dysplastic corpus callo...	ORPHA:171680
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ...	ORPHA:101030
Cardiac Valvular Dysplasia 1	Arteria lusoria, Pulmonary artery atresia, Atrial septal defect, Patent foramen ovale, Pulmonic s...	OMIM:212093
Peroxisome Biogenesis Disorder 3A (Zellweger)	Vascular dilatation, Hepatomegaly, Polycystic kidney dysplasia	OMIM:614859
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Facial palsy, Cryptorchidism, Flexion contracture, Micropenis, Skeletal muscle hypertrophy, Macro...	OMIM:613156
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Ventricular septal defect, Cryptorchidism, Orofacial cleft	ORPHA:3434
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Cheilitis Glandularis	Neoplasm, Squamous cell carcinoma	ORPHA:1221
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Hydrocephalus, Abnormal cerebral white matter morphology, Dysgyria, Gray...	ORPHA:352682
Corpus Callosum, Agenesis Of	Agenesis of corpus callosum, Microcephaly	OMIM:217990
Fanconi Renotubular Syndrome 5	Emphysema, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Autosomal Recessive Amelia	Hypoplasia of penis, Small scrotum, Micrognathia, Cryptorchidism, Non-midline cleft lip, Orofacia...	ORPHA:1027
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Dextrocardia, Micrognathia, Tracheoesophageal fistula, Urete...	ORPHA:2437
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Cardiomyopathy, Dilated, 1Kk	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se...	OMIM:615248
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Selective tooth agenesis, Absent frontal sinuses, Knee flexion contractu...	OMIM:305620
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613876
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert...	ORPHA:206546
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased response to growth hormone stimulation test, Ectopic kidney, Renal ...	OMIM:146510
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Nephrolithiasis, Papillary renal cell carcinoma, ...	OMIM:145001
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter...	OMIM:619302
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Thin upper lip vermilion, Hydroureter, Ventricular septal defect, Bicuspid aortic valve, Microgna...	OMIM:610759
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydroureter, Hydronephrosis	OMIM:618240
Autosomal Recessive Primary Microcephaly	Microcephaly, Gray matter heterotopia, Hypoplasia of the frontal lobes, Pachygyria, Agenesis of c...	ORPHA:2512
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypoplastic scapulae, Short lingual frenulum, Hypospadias, Micromelia, Short uvula, Renal hypopla...	OMIM:614091
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Renal dysplasia, Flexion contracture, Abnormal renal corticomedulla...	OMIM:616733
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Pericardial effusion, Hepatosplenomegaly, Wide mouth, Abnormal cardiac septum morph...	OMIM:608776
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Nephrotic Syndrome, Type 11	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:616730
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Hypertrophy of the urinary bladder, High palate, Atrial septal defect...	ORPHA:280633
Myofibrillar Myopathy 10	Mandibular prognathia, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	Acute lymphoblastic leukemia, Lymphoma, T-cell acute lymphoblastic leukemias	OMIM:247640
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Micrognathia, A...	ORPHA:2604
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Pierre Robin Syndrome And Oligodactyly	Pierre-Robin sequence, Hand oligodactyly, Cleft palate, Micrognathia	OMIM:172880
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure, Dysphagia	OMIM:616867
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Micrognathia, Cryptorchidism, Renal atrophy, Congenita...	OMIM:618578
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Renal dysplasia, Hypoparathyroidism, Renal insufficiency, Unilateral renal agenesis, Septate vagi...	ORPHA:2237
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency	ORPHA:2111
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Left ventricular hypertrophy, Ventricular hypertrophy, Increased urine succinate level, Hepatomegaly	OMIM:619048
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Ventricular Septal Defect 1	Ventricular septal defect, Pulmonic stenosis, Atrial septal defect, Atrioventricular canal defect...	OMIM:614429
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Wolfram Syndrome, Mitochondrial Form	Hydroureter, Hydronephrosis	OMIM:598500
Macdermot-Winter Syndrome	Hydronephrosis, Camptodactyly of finger, Hypoplastic male external genitalia	OMIM:247990
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Schizencephaly, Microcephaly, Pachygyria, Simplified gyral pattern, Abnormality of neuronal migra...	OMIM:604317
Lissencephaly 5	Occipital encephalocele, Hydrocephalus, Porencephalic cyst, Subcortical band heterotopia, Leukoen...	OMIM:615191
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Pulmonary fibrosis, Respiratory insufficiency	OMIM:178550
Wolfram Syndrome 1	Neurogenic bladder, Hydroureter, Stroke-like episode, Cardiomyopathy, Testicular atrophy, Hydrone...	OMIM:222300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Arthrog...	OMIM:607598
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Cleft palate, Truncus arteriosus, Short dis...	OMIM:601355
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Acute inf...	ORPHA:36238
Joubert Syndrome 18	Ventricular septal defect, Renal cyst, Cleft palate, Horseshoe kidney, Lobulated tongue, Camptoda...	OMIM:614815
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Ventricular septal defect, Bilateral cleft lip, Micrognathia, H...	OMIM:618021
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613874
Bardet-Biedl Syndrome 16	Renal insufficiency, Renal agenesis, External genital hypoplasia, Stage 5 chronic kidney disease,...	OMIM:615993
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of...	OMIM:618492
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Aganglionic megacolo...	ORPHA:2473
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Thin upper lip vermilion, Hypoplasia of the bladder, Hydroureter, Bicuspid aortic valve, Clitoral...	OMIM:300707
Microphthalmia, Syndromic 12	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Micrognathia,...	OMIM:615524
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Renal Tubular Dysgenesis	Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renotubular dysgenesis	ORPHA:3033
Bardet-Biedl Syndrome 4	External genital hypoplasia, Abnormality of the kidney, Abnormality of the dentition, Cryptorchid...	OMIM:615982
Catel-Manzke Syndrome	Ventricular septal defect, Camptodactyly of finger, Micrognathia, Cleft palate, Glossoptosis, Atr...	ORPHA:1388
Penile Agenesis	Ambiguous genitalia, Urethral atresia, male, Ventricular septal defect, Hydroureter, Rectal fistu...	ORPHA:49
Endocardial Fibroelastosis	Hypoplasia of penis, Micrognathia, Cryptorchidism, Endocardial fibroelastosis, Restrictive cardio...	ORPHA:2022
Branchiootorenal Syndrome 1	Renal dysplasia, Renal malrotation, Intestinal malrotation, Facial palsy, Unilateral renal agenes...	OMIM:113650
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Retrognathia, Skeletal muscle hyp...	OMIM:300280
Cardiomyopathy, Dilated, 1U	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613694
Bladder Exstrophy And Epispadias Complex	Hydroureter, Unilateral renal agenesis, Epispadias, Horseshoe kidney, Anteriorly placed anus, Bla...	OMIM:600057
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormality of the ureter, Abnormality of the upper urinary tract	ORPHA:3266
Mesoaxial Hexadactyly And Cardiac Malformation	Torticollis, Ventricular septal defect, External genital hypoplasia, Patent ductus arteriosus, Ev...	OMIM:249670
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
14Q11.2 Microdeletion Syndrome	Ventricular septal defect, Exaggerated cupid's bow, Micrognathia, Deep philtrum, Patent ductus ar...	ORPHA:261120
Congenital Heart Defects, Multiple Types, 4	Ventricular septal defect, Coarctation of aorta, Hypoplastic left heart, Aortic valve stenosis, A...	OMIM:615779
Fetal Minoxidil Syndrome	Cryptorchidism, Ventricular septal defect, Micrognathia	ORPHA:1918
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Lissencephaly, Agenesi...	ORPHA:1528
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Thin upper lip vermilion, Overriding aorta, Micrognathia, Cryptorchidism, Patent ductus arteriosu...	ORPHA:3304
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Aminoaciduri...	OMIM:214110
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Cystic renal dysplasia, Hypogonadism, Vaginal atresia, Hydronephrosis	OMIM:615989
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Intestinal malrotation, Hepatic cysts, Si...	OMIM:208540
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Hydroureter, Fetal megacystis, Intestinal malrotation	OMIM:249210
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Cloacal Exstrophy	Hypoplasia of penis, Hydroureter, Intestinal malrotation, Ectopic kidney, Renal hypoplasia/aplasi...	ORPHA:93929
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insufficiency, Interlobular septal ...	OMIM:614370
Beaulieu-Boycott-Innes Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Unilateral renal agenesis, Microgn...	OMIM:613680
Craniotelencephalic Dysplasia	Agenesis of corpus callosum, Frontal encephalocele, Lissencephaly, Absent septum pellucidum	OMIM:218670
Meconium Aspiration Syndrome	Respiratory distress, Atelectasis, Neonatal asphyxia, Pneumothorax, Wheezing, Hypoxemia, Aspirati...	ORPHA:70588
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Hydroureter, Intestinal malrotation, Neoplasm of the heart, Cryptor...	ORPHA:2241
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Thin upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Parachute mitral va...	OMIM:618316
Cat Eye Syndrome	Micrognathia, Vesicoureteral reflux, Atrial septal defect, Patent ductus arteriosus, Total anomal...	OMIM:115470
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Tricuspid Atresia	Ventricular septal defect, Hypoplasia of right ventricle, Coarctation of aorta, Persistent left s...	ORPHA:1209
Sonoda Syndrome	Ventricular septal defect, Narrow mouth	OMIM:270460
Tetrasomy 15Q26	Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Horseshoe kidney, High pala...	OMIM:614846
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Renal agenesis, Renal hypoplasia/aplasia, Micrognathia, High, narrow p...	ORPHA:2516
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp...	OMIM:618042
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Ectopic kidney, Shor...	ORPHA:401935
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Ventricular septal defect, Micrognathia, Thick lower lip vermilion, Widely-spaced maxillary centr...	OMIM:608227
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Increased variability in...	ORPHA:86812
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati...	OMIM:263200
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Caudal Regression Syndrome	Ureteral duplication, Decreased muscle mass, Renal insufficiency, Renal agenesis, Ambiguous genit...	ORPHA:3027
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Dysphagia	OMIM:615348
Lissencephaly 6 With Microcephaly	Microcephaly, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gy...	OMIM:616212
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Image Syndrome	Hypospadias, Micromelia, Cryptorchidism, Hypogonadism, Hydronephrosis	ORPHA:85173
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Irregular dentition, Tented upper lip vermilion, Micrognathia, Anteriorly placed a...	OMIM:619148
Microphthalmia, Lenz Type	Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Camptodactyly of finger, Hypo...	ORPHA:568
Microcephaly 17, Primary, Autosomal Recessive	Simplified gyral pattern, Microlissencephaly, Hypoplasia of the corpus callosum, Primary microcep...	OMIM:617090
Fetal Trimethadione Syndrome	Ambiguous genitalia, Ventricular septal defect, Hypospadias, Micrognathia, High palate, Transposi...	ORPHA:1913
X-Linked Intellectual Disability, Schimke Type	Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, ...	ORPHA:85285
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum	OMIM:619501
Hadziselimovic Syndrome	Ventricular hypertrophy, Ventricular septal defect, Thick lower lip vermilion, Renal hypoplasia, ...	OMIM:612946
10Q22.3Q23.3 Microduplication Syndrome	Microretrognathia, Abnormality of the philtrum, Hypospadias, Abnormality of the dentition, Ambigu...	ORPHA:276422
Autosomal Recessive Spastic Paraplegia Type 69	Agenesis of corpus callosum, Cerebral cortical atrophy	ORPHA:401830
Congenital Disorder Of Glycosylation, Type Iig	Thin upper lip vermilion, Renal insufficiency, Hypospadias, Rhizomelia, Micrognathia, Hemolytic-u...	OMIM:611209
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Thick low...	OMIM:618950
Fryns Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch m...	ORPHA:2059
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Thin upper lip vermilion, Ventricular septal defect, Unilateral renal agenesis, High, narrow pala...	OMIM:618494
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Inte...	ORPHA:210122
Meier-Gorlin Syndrome 8	Micrognathia, Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Thick vermilio...	OMIM:617564
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Restrictive ve...	ORPHA:99931
Idiopathic Chronic Eosinophilic Pneumonia	Crackles, Atelectasis, Hypersensitivity pneumonitis, Nonproductive cough, Dyspnea, Wheezing, Asth...	ORPHA:2902
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy, Increased urine alpha-ketoglutarate concentration	OMIM:614458
Ciliary Dyskinesia, Primary, 42	Nasal polyposis, Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchi...	OMIM:618695
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Renal hypoplasia/aplasia, Micrognathia, Splenomegaly, Abnormali...	ORPHA:1046
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Intestinal malrotation, Submucous cleft hard palat...	ORPHA:3426
Say Syndrome	Micrognathia, Proximal renal tubular acidosis, Cleft palate, Cystic renal dysplasia, Short distal...	OMIM:181180
Bronchogenic Cyst	Pulmonary cyst, Pneumonia, Abnormal pleura morphology, Atelectasis, Dyspnea, Dysphagia, Cough, Br...	ORPHA:2357
Trisomy 13	Median cleft lip, Ventricular septal defect, Abnormality of the dentition, High, narrow palate, C...	ORPHA:3378
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of t...	ORPHA:94066
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
46,Xy Sex Reversal 4	Renal dysplasia, Hypergonadotropic hypogonadism, Micrognathia, Agonadism, Cleft palate, Sex rever...	OMIM:154230
Maternal Phenylketonuria	Ventricular septal defect, Micrognathia, Esophageal atresia, Abnormal renal morphology, Abnormal ...	ORPHA:2209
Orofaciodigital Syndrome I	Lobulated tongue, High palate, Microretrognathia, Hamartoma of tongue, Cleft upper lip, Supernume...	OMIM:311200
Ciliary Dyskinesia, Primary, 23	Neonatal respiratory distress, Productive cough, Recurrent pneumonia, Bronchiectasis, Respiratory...	OMIM:615451
Ciliary Dyskinesia, Primary, 11	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:612649
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Pontocerebellar Hypoplasia, Type 14	Death in infancy, Agenesis of corpus callosum, Simplified gyral pattern	OMIM:619301
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Dextrotransposition of the great arteries, Atrial septal defect, Pulmonary ...	OMIM:270100
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Intestinal malrotation, Hamartoma of tongue, Cleft upper lip, Cleft palat...	OMIM:613091
Renal Agenesis	Renal insufficiency, Absent vas deferens, Renal agenesis, Ventricular septal defect, Proteinuria,...	ORPHA:411709
Short Stature-Wormian Bones-Dextrocardia Syndrome	Delayed eruption of teeth, Abnormality of the philtrum, Dextrocardia, Camptodactyly of finger, Re...	ORPHA:2863
Penoscrotal Transposition	Renal agenesis, Hypospadias, Abnormal external genitalia, Micrognathia, Abnormality of the urethr...	ORPHA:2842
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Renal dysplasia, Hepatomegaly, Ureteral duplication, Renal insufficiency, Long-chain dicarboxylic...	OMIM:608836
Raine Syndrome	Mandibular prognathia, Natal tooth, Hydroureter, Micromelia, Protruding tongue, Micrognathia, Gin...	OMIM:259775
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Thin upper lip vermilion, Overriding aorta, Bicuspid aortic valve, Ventricular septal defect, Foo...	ORPHA:477817
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Ventricular septal defect, Cleft upper lip, Micrognathia, Short thumb, P...	OMIM:612561
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova...	ORPHA:244
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Crossed fused renal ectopia, Ambiguous genitalia, Ventricular septal defect, Hypoplastic right he...	OMIM:618142
Burn-Mckeown Syndrome	Mandibular prognathia, Ventricular septal defect, Unilateral renal agenesis, Cleft upper lip, Mic...	OMIM:608572
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Micrognathia, Cleft palate, Vesicoureteral reflux, Arthrogryposis multiplex congenita, Retrognath...	OMIM:618265
Mesomelic Limb Shortening And Bowing	Camptodactyly of finger, Micrognathia, Mesomelic arm shortening, Cleft palate, Mesomelic leg shor...	OMIM:249710
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposi...	OMIM:613496
Ciliary Dyskinesia, Primary, 28	Recurrent respiratory infections, Neonatal respiratory distress, Dynein arm defect of respiratory...	OMIM:615505
Acrorenal Syndrome	Renal insufficiency, Micrognathia, Renal hypoplasia/aplasia, Abnormal renal morphology, Cleft pal...	ORPHA:971
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxemia, Ple...	OMIM:612387
Bor Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Renal hypoplasia/aplasia, Cleft ...	ORPHA:107
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Jejunal atresia, High, narrow palate, Narrow palate, Type 1 muscle fiber predominance, Increased ...	OMIM:612949
Epilepsy, Progressive Myoclonic, 9	Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Vesicoureteral reflux, Knee flexion contra...	ORPHA:3208
Odontochondrodysplasia 1	Delayed eruption of teeth, Short metacarpal, Micromelia, Mesomelia, Polycystic kidney dysplasia, ...	OMIM:184260
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Micrognathia, Pulmonary artery atresia, Atrial septal defect, Di...	OMIM:601186
Mucopolysaccharidosis, Type X	Thickened aortic valve cusp, Diastema, Open bite, Nephrolithiasis, Dermatan sulfate excretion in ...	OMIM:619698
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:3346
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:604292
Atrial Fibrillation, Familial, 10	Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement	OMIM:614022
Serkal Syndrome	Abnormal penis morphology, Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, ...	ORPHA:139466
Distal Deletion 12Q	Ectopic kidney, Micrognathia, High, narrow palate, Vesicoureteral reflux, Micropenis, Patent fora...	ORPHA:96149
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, Agenesis of corpus callosum	OMIM:614833
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Exertional dyspnea	ORPHA:254361
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,...	ORPHA:449280
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec...	OMIM:620296
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Ambiguous genitalia, Median cleft lip, Ventricular septal defect, Intestinal malrotation, Hamarto...	OMIM:263520
Femoral-Facial Syndrome	Short fourth metatarsal, Micrognathia, Micropenis, Cryptorchidism, Absent vertebra, Pulmonic sten...	OMIM:134780
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Renal agenesis, Hypogonadotropic hypogonadism, Anomalous origin of left c...	ORPHA:2326
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Micrognathia, High, narrow palate, Renal cyst, Downturned corners of ...	ORPHA:369837
3C Syndrome	Hypoplasia of penis, Ventricular septal defect, Abnormal mitral valve morphology, Intestinal malr...	ORPHA:7
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Morgagni diaphragmatic...	OMIM:613177
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Phelan-Mcdermid Syndrome	Ventricular septal defect, Abnormality of the kidney, Micrognathia, Patent ductus arteriosus, Den...	OMIM:606232
Bilateral Striopallidodentate Calcinosis	Cerebral calcification, Abnormality of neuronal migration, Microcephaly	ORPHA:1980
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers, Stroke-like episode	OMIM:540000
Aortic Valve Disease 1	Ventricular septal defect, Bicuspid aortic valve, Mitral atresia, Aortic valve calcification, Dou...	OMIM:109730
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplastic scapulae, Renal agenesis, Absent nipple, Congenital diaphragm...	OMIM:200980
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Cleft Palate, Isolated	Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Chromosome 15Q14 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Cleft lip, Cleft palate, Short philtrum, E...	OMIM:616898
Fanconi Anemia	Micrognathia, High palate, Abnormality of the uterus, Atrial septal defect, Hypoplasia of the uln...	ORPHA:84
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia...	ORPHA:373
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Dysphagia	OMIM:225753
Verheij Syndrome	Thin upper lip vermilion, Ventricular septal defect, Renal agenesis, Renal hypoplasia, Cleft pala...	OMIM:615583
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Microcephaly, Lissencephaly, Neonatal death, Agenesis of corpus callosum, Agyria	OMIM:616342
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, C...	ORPHA:457193
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti...	ORPHA:3270
Oeis Complex	Epispadias, Ambiguous genitalia, female, Anteriorly placed anus, Ambiguous genitalia, male, Dupli...	OMIM:258040
Tetraploidy	Micrognathia, Renal hypoplasia/aplasia, Cleft palate, Short philtrum, Hydronephrosis	ORPHA:3305
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Periventricular heterotopia, Microcephaly, Partial agenesis of the corpus callosum, Simplified gy...	OMIM:616171
8Q12 Microduplication Syndrome	Ventricular septal defect, Narrow mouth, Vesicoureteral reflux, Short foot, Everted lower lip ver...	ORPHA:228399
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Mckusick-Kaufman Syndrome	Hydroureter, Aganglionic megacolon, Cryptorchidism, Transverse vaginal septum, Hydrometrocolpos, ...	OMIM:236700
Fetal Encasement Syndrome	Congenital diaphragmatic hernia, Upper limb undergrowth, Horseshoe kidney, Increased urinary 8-ox...	OMIM:613630
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613251
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Renal dysplasia, Ureteral duplication, Anal stenosis, Ureteral hypoplasia, Congenital diaphragmat...	OMIM:614080
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Galloway-Mowat Syndrome 7	Diffuse mesangial sclerosis, Ventricular septal defect, Proteinuria, Minimal change glomeruloneph...	OMIM:618348
Meckel Syndrome 12	Ureteral hypoplasia, Micrognathia, Renal hypoplasia, Hypoplasia of the uterus, Bilateral renal ag...	OMIM:616258
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Hypersensitivity pneumonitis, Dyspnea, Abnormality on pulmona...	ORPHA:133
Hemimegalencephaly	Pachygyria, Hemimegalencephaly, Gray matter heterotopia, Hyperintensity of cerebral white matter ...	ORPHA:99802
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level, Pulmonary edema	ORPHA:70578
Hardikar Syndrome	Vesicoureteral reflux, Atrial septal defect, Bladder exstrophy, Patent foramen ovale, Hepatomegal...	OMIM:301068
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Hepatomegaly, Ventricular septal defect, Hypospadias, Pulmonary art...	OMIM:301056
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Meckel Syndrome 14	Microretrognathia, Micrognathia, Polycystic kidney dysplasia, Aplasia of the uterus, Ambiguous ge...	OMIM:619879
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis...	OMIM:610205
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Agenesis of corpus callosum, Hypoplasia of the co...	OMIM:164180
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Cerebral atrophy	ORPHA:85179
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Micrognathia, D...	OMIM:609757
Noonan Syndrome 8	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Atrial se...	OMIM:615355
Ciliary Dyskinesia, Primary, 30	Recurrent respiratory infections, Nasal polyposis, Cough, Absent outer dynein arms, Asthma, Bronc...	OMIM:616037
Split-Hand/Foot Malformation 3	Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Renal hypoplasia, Cleft palate, High ...	OMIM:246560
Meckel Syndrome, Type 9	Limb undergrowth, Multicystic kidney dysplasia, Ambiguous genitalia	OMIM:614209
Ciliary Dyskinesia, Primary, 27	Recurrent respiratory infections, Neonatal respiratory distress, Bronchiectasis, Decreased nasal ...	OMIM:615504
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Periventricular cysts, Hypoplasia of the corpus callosum, Short corp...	ORPHA:255138
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Cryptorchidism, Patent ductus arteriosus, Thick lower lip vermilion, W...	OMIM:619797
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Respiratory insufficiency, Restrictive ventilatory defect, Respiratory fail...	OMIM:614399
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Intraal...	OMIM:300770
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Ventricular septal defect, Aplasia/Hypoplasia of the...	ORPHA:2256
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Intestinal malrotation, Microcolon, Megacystis, Hydronephrosis	OMIM:619431
Pulmonary Atresia With Ventricular Septal Defect	Pulmonary artery atresia, Ventricular septal defect	OMIM:178370
Li-Campeau Syndrome	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Patellar hypoplasia, Long ph...	OMIM:619189
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Cryptor...	ORPHA:2075
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Renal agenesis, Ectopic kidney, Absent radius, Absent thumb, Horseshoe kidn...	OMIM:602200
46,Xx Sex Reversal 5	Ventricular septal defect, Secundum atrial septal defect, Aplasia of the left hemidiaphragm, Hypo...	OMIM:618901
Cardiomyopathy, Dilated, 1V	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613697
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, Abnormal dental enamel morphology, Hypospadias, Abno...	ORPHA:96169
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Cardiomegaly, High, narrow palate, Red-...	ORPHA:228308
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Intestinal malrotation, Micromelia, Micrognathia, Missing ribs, Short r...	OMIM:617866
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Renal sodium wasting,...	ORPHA:320
Alpha-1-Antitrypsin Deficiency	Emphysema	ORPHA:60
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Hydrocephalus, Simplified gyral pattern, Abnormal cerebral white matter morphology, Lissencephaly...	OMIM:613153
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Micrognathia, Thyroid lymphang...	OMIM:235255
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Pierre-Robin sequ...	OMIM:619980
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Dysphagia, Respirator...	OMIM:607625
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissence...	ORPHA:89844
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Cardiomyopathy, Pituitary p...	OMIM:102200
Feingold Syndrome Type 1	Micrognathia, Short middle phalanx of the 2nd finger, Vesicoureteral reflux, Nephritis, Abnormali...	ORPHA:391641
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Dextrocardia, Absent radius, Esophageal atresia, Tracheoesophageal fistula, Enlarg...	OMIM:314390
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Hypoplasia of penis, Hypospadias, Cryptorchidism, Anal atresia, Tetralogy of Fallot, Abnormal pal...	ORPHA:1381
Adams-Oliver Syndrome 4	Ventricular septal defect, Short toe, Patent ductus arteriosus, Absent middle phalanx of the 3rd ...	OMIM:615297
Cantu Syndrome	Bicuspid aortic valve, Short hallux, Cardiomegaly, Pericardial effusion, Patent ductus arteriosus...	OMIM:239850
Feingold Syndrome 2	Ventricular septal defect, Short middle phalanx of the 2nd finger, Short thumb, Short middle phal...	OMIM:614326
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Left ventricular hypertrop...	OMIM:615474
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Hajdu-Cheney Syndrome	Ventricular septal defect, Intestinal malrotation, Hypospadias, Micrognathia, Absent frontal sinu...	OMIM:102500
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Microcolon, Megacystis, Fetal megacystis, Hydronephrosis	OMIM:619362
Feingold Syndrome Type 2	Short middle phalanx of finger, Jejunal atresia, Short thumb, Ventricular septal defect	ORPHA:391646
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Dextrotransposition of...	OMIM:618619
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, I...	ORPHA:3077
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Aggressive behavior	ORPHA:208441
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Ventricular septal defect, Hypospadias, Cardiomegaly, Micrognathia, Flexion contract...	OMIM:616897
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy...	OMIM:608751
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Dysphagia	OMIM:618637
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Hamartoma of tongue, Accessory oral frenulum, Micromelia, Aplast...	OMIM:616546
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Intestinal malrotation, Thoracic aortic aneurysm, Patent...	OMIM:619657
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Absence of Stensen duct, Selective tooth agenesis, Decreased response to growth hormone stimulati...	OMIM:129900
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Re...	ORPHA:261494
Symmetrical Thalamic Calcifications	Cerebral calcification, Abnormality of neuronal migration, Microcephaly	ORPHA:1314
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, Atrial sept...	ORPHA:2044
Scimitar Syndrome	Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Atrial septal defect, Single ventricle,...	ORPHA:185
Hydrocephalus, Congenital, X-Linked	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age...	OMIM:307000
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Gaba-Transaminase Deficiency	Agenesis of corpus callosum, Death in childhood	OMIM:613163
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Meacham Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Conotruncal defect, Abnormal fallopian tube...	ORPHA:3097
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Rectal prolapse, Conical incisor, Oligodontia, Protein-losing enteropathy, Short ...	OMIM:235510
Vacterl/Vater Association	Bifid scrotum, Hypoplasia of penis, Multicystic kidney dysplasia, Hypospadias, Renal agenesis, Co...	ORPHA:887
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydronephrosis, Abnormal palate morphology	ORPHA:251046
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
8P Inverted Duplication/Deletion Syndrome	Small hypothenar eminence, Dextrocardia, Micrognathia, Precocious puberty, High, narrow palate, C...	ORPHA:96092
Hepatorenocardiac Degenerative Fibrosis	Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fibrosis, Reduced ...	OMIM:619902
Heterotaxy, Visceral, 12, Autosomal	Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septal defect, Patent...	OMIM:619702
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Cryptorchidism, Dental malocclusion, Wide mouth,...	OMIM:610733
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, Micrognathia, Splenomegaly, Cr...	ORPHA:1655
Pituitary Gigantism	Mandibular prognathia, Elevated circulating growth hormone concentration, Pituitary prolactin cel...	ORPHA:99725
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma	OMIM:613736
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Micrognathia, Missing ribs, Abnormalit...	ORPHA:1834
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness...	ORPHA:268
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Right ventricular hypertrophy	ORPHA:444013
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pne...	ORPHA:454836
Meckel Syndrome, Type 1	External genital hypoplasia, Micrognathia, Ambiguous genitalia, female, Lobulated tongue, Ambiguo...	OMIM:249000
Chand Syndrome	Hydroureter, Short fifth metatarsal, Cleft palate, Agenesis of permanent teeth, Abnormal oral fre...	ORPHA:1401
Eng-Strom Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Camptodactyly of finger	ORPHA:1937
Global Developmental Delay With Or Without Impaired Intellectual Development	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Patent ductus arteriosus, Oligo...	OMIM:618330
Lambert Syndrome	Wide mouth, Malar flattening, Ventricular septal defect, Hypospadias	ORPHA:1296
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla...	ORPHA:255182
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Hydronephrosis, Anal atresia	OMIM:235760
Toluene Embryopathy	Micrognathia, Cryptorchidism, Abnormal localization of kidney, Thin vermilion border, Hypoplasia ...	ORPHA:1920
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Intestinal malrotation, Pyloric stenosis, Patent ductus arteriosus...	OMIM:300048
Ciliary Dyskinesia, Primary, 15	Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Cough, Wheezing...	OMIM:613808
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia of the tongue, Facial palsy, Micrognathia, Pierre-Rob...	ORPHA:1358
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Dental crowding, Cardio...	OMIM:300967
Robinow Syndrome	Small scrotum, Dental crowding, External genital hypoplasia, Micrognathia, Pulmonary valve atresi...	ORPHA:97360
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Rhabdomyolysis, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epit...	ORPHA:157
Pulmonary Hypertension, Primary, 5	Right ventricular hypertrophy	OMIM:265400
Baraitser-Winter Cerebrofrontofacial Syndrome	Hydroureter, Transient ischemic attack, Abnormality of the upper urinary tract, Micrognathia, Wid...	ORPHA:2995
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Cranioacrofacial Syndrome	Dupuytren contracture, Ventricular septal defect, Pulmonic stenosis	OMIM:122850
Zaki Syndrome	Renal agenesis, Congenital diaphragmatic hernia, Micrognathia, Patent ductus arteriosus, Wide mou...	OMIM:619648
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ...	OMIM:617168
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Pulmonary arterial hypertension, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:619003
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Erosion of oral mucosa, Multicystic kidney dysp...	ORPHA:79404
Cardiomyopathy, Familial Hypertrophic, 16	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy	OMIM:613838
Peroxisome Biogenesis Disorder 5A (Zellweger)	Hepatomegaly, Ventricular septal defect, Hypospadias, Micrognathia, Splenomegaly, Cryptorchidism,...	OMIM:614866
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Dyspnea, Stridor, Cough, Impaire...	ORPHA:2004
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Orofaciodigital Syndrome Xv	Lobulated tongue, Hydronephrosis, Midline notch of upper alveolar ridge	OMIM:617127
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Abnormal cardiac septum morphology, Ventricular septal defect, Abnormal localization of kidney, N...	ORPHA:83473
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Thin upper lip vermilion, Hip contracture, Hydroureter, Unilateral renal agenesis, Supernumerary ...	OMIM:619194
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakn...	ORPHA:98915
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, High palate, Short palm, Multicystic kidney dysp...	OMIM:614527
Cat-Eye Syndrome	Abnormal localization of kidney, Hydronephrosis, Anal atresia, Renal hypoplasia/aplasia	ORPHA:195
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Hypospadias, Dextrocardia, Abnormality of the den...	ORPHA:2315
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo...	OMIM:610755
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Scapular winging, Skeletal muscle atrophy, Glutaric aciduria, Rhabdomyolysis, Lacti...	ORPHA:26791
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Abnormality of the philtrum, Ventricular septal defect, Renal hypoplasia/aplasia, Non-midline cle...	ORPHA:1770
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Atrial septal defect, Micropenis, Thick upper lip vermilion, Hypospadias, Abnormality of the kidn...	ORPHA:363444
Adams-Oliver Syndrome 5	Splenomegaly, Right atrial enlargement, Esophageal varix, Pulmonic stenosis, Patent foramen ovale...	OMIM:616028
15q26 overgrowth syndrome	Mandibular prognathia, Renal agenesis, Abnormality of the kidney, Camptodactyly of finger, Microg...	DECIPHER:81
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Hypospadias, Micrognathi...	OMIM:300712
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Renal hypoplasia/aplasia, Cryptorchidism, Uterus...	ORPHA:1756
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Congenital diaphragmatic hernia, Renal cyst, Short palm, Atrial septal def...	OMIM:312870
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Conical tooth, Ectopic kidney, Short philtrum, High palate, Atri...	OMIM:135900
Attrv122I Amyloidosis	Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val...	ORPHA:85451
Mosaic Trisomy 9	Hypoplasia of penis, Micromelia, Micrognathia, High palate, Abnormality of the uterus, Abnormal f...	ORPHA:99776
Adenine Phosphoribosyltransferase Deficiency	2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ...	OMIM:614723
Peroxisome Biogenesis Disorder 12A (Zellweger)	Prominence of the premaxilla, Abnormality of the male genitalia, Patent ductus arteriosus, Renal ...	OMIM:614886
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Abnormal cardi...	ORPHA:3079
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Thin upper lip vermilion, Ventricular septal d...	OMIM:220500
3-Hydroxyisobutyric Aciduria	Congenital intracerebral calcification, Abnormality of neuronal migration, Microcephaly	OMIM:236795
Cleft Palate-Large Ears-Small Head Syndrome	Skeletal muscle atrophy, Hypospadias, Micrognathia, Gingival overgrowth, Cleft palate, Short dist...	ORPHA:2013
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Hypospadias, Hydroureter, Small scrotum, Hypoplastic labia minora, Splenopancr...	OMIM:269150
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phospholipid ac...	OMIM:610910
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Multicystic kidney dysplasia, Short palm, Small scrot...	ORPHA:85201
Distal Deletion 15Q	Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch morpho...	ORPHA:1596
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft palate, Furrowed tongue...	OMIM:616449
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Renal agenesis, Unilateral renal agenesis, Ectopic kidney, Cleft upper lip, Micrognathia, Cleft p...	OMIM:601076
Orofaciodigital Syndrome Xvii	Median cleft lip, Short middle phalanx of the 2nd finger, High, narrow palate, Renal hypoplasia, ...	OMIM:617926
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Renal hypoplasia, Renal cyst, Ureteral agenesis, Arthrogryposis multiplex cong...	OMIM:236500
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:614654
Cln3 Disease	Left ventricular hypertrophy, Urinary bladder sphincter dysfunction	ORPHA:228346
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Malabsorption, Micrognathia, Aplasia/Hypoplasia of the patella, ...	ORPHA:1225
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ...	OMIM:619167
Ochoa Syndrome	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Mucolipidosis Iv	Dysplastic corpus callosum, Cerebral dysmyelination, Microcephaly	OMIM:252650
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Fetal pye...	ORPHA:93110
Intellectual Developmental Disorder, Autosomal Recessive 71	Ventricular septal defect, Unilateral renal agenesis, Cryptorchidism, Increased overbite, Micropenis	OMIM:618504
Cardiomyopathy, Familial Hypertrophic, 10	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Asymme...	OMIM:608758
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasi...	OMIM:600001
Lymphatic Malformation 12	Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren...	OMIM:620014
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Non-midline cleft lip, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Tangier Disease	Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, Cor...	OMIM:205400
C1Q Deficiency 2	Atelectasis, Recurrent lower respiratory tract infections, Bronchiectasis	OMIM:620321
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Ventricular septal defect, Hepatomegaly	OMIM:614876
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Chiari Malformation Type Ii	Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Gray matter heterotopia, Agen...	OMIM:207950
Syndromic Diarrhea	Hepatomegaly, Villous atrophy, Ventricular septal defect, Bicuspid aortic valve, Gastritis, Splen...	ORPHA:84064
Polysyndactyly With Cardiac Malformation	Atrial septal defect, Ventricular septal defect, Hepatic cysts, Renal cyst	OMIM:263630
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Microcephaly 3, Primary, Autosomal Recessive	Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c...	OMIM:604804
Kury-Isidor Syndrome	Tented upper lip vermilion, Ventricular septal defect, High palate, Widely spaced teeth, Long phi...	OMIM:619762
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Facial hypotonia, Cryptorchidism, Narrow palate, Micropenis, Short upper l...	ORPHA:364028
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614870
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Short philtrum, Widely spaced teeth, Hepatomegaly, Cleft lip, Pulmonary artery stenosis, Thick ve...	OMIM:280000
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts, Vascular dilatation	ORPHA:2924
Intellectual Developmental Disorder, Autosomal Recessive 73	Ventricular septal defect, Patent ductus arteriosus, Deep philtrum, Widely spaced teeth, Thick up...	OMIM:619717
Orofaciodigital Syndrome Type 5	Crossed fused renal ectopia, Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Ac...	ORPHA:2919
Opitz Gbbb Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Micrognathia, High palate, Vesicoureteral reflux,...	ORPHA:2745
Familial Hyperaldosteronism Type Iii	Left ventricular hypertrophy, Adrenal hyperplasia, Hypercalciuria, Intracranial hemorrhage	ORPHA:251274
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory insufficiency due to muscle weakness, Respiratory failure, Neonatal death	OMIM:611890
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulo...	OMIM:231680
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Agyria, Subcortical heterotopia, Partial agenesis of the corpus ...	OMIM:614643
Thakker-Donnai Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Tracheoesophageal fistula, Downturned...	ORPHA:1780
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
X-Linked Lissencephaly With Abnormal Genitalia	Hypoplasia of penis, Aganglionic megacolon, Ventricular septal defect, Micrognathia, Malabsorptio...	ORPHA:452
Meckel Syndrome, Type 4	Ventricular septal defect, Renal cyst, Cleft palate, Bile duct proliferation, Atrial septal defect	OMIM:611134
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Ectopic kidney, Micrognathia, Cleft palate, Abnormal heart morphology, Small the...	OMIM:239800
Abruzzo-Erickson Syndrome	Hypospadias, Coronal hypospadias, Short toe, Cryptorchidism, Cleft palate, Abnormal localization ...	ORPHA:921
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal aortic arch morphology, Short philtrum, Abnormality of the uterus, Hypopla...	ORPHA:567
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Diaphanospondylodysostosis	Multiple renal cysts, Cleft palate, Missing ribs	ORPHA:66637
Recombinant 8 Syndrome	Small scrotum, Ventricular septal defect, Camptodactyly of finger, Abnormality of the kidney, Cle...	ORPHA:96167
Skraban-Deardorff Syndrome	Ventricular septal defect, Micrognathia, Absent cupid's bow, Cleft palate, Right aortic arch, Wid...	OMIM:617616
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Hepatomegaly, Renal insufficiency, Neurogenic bladder, Hydroureter, Unil...	ORPHA:90324
Inverted Duplicated Chromosome 15 Syndrome	Ventricular septal defect, Unilateral renal agenesis, Precocious puberty, Cryptorchidism, Gonadal...	ORPHA:3306
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea	ORPHA:2759
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Myopathy, Nephrotic syndrome, Left ventricular hypert...	OMIM:617713
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Ventricular septal defect, Hypospadias, Malabsorption...	ORPHA:912
Cardiomyopathy, Familial Hypertrophic, 17	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis	OMIM:613873
Tarp Syndrome	Meckel diverticulum, Micrognathia, Hypoplasia of the radius, Subdural hemorrhage, Cleft palate, T...	OMIM:311900
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Progressive flexion contractures, Cleft upper lip, Micrognathia,...	ORPHA:3103
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Atelectasis, Absent outer dynein arms, Bronchiectasis, Immotile cilia...	OMIM:244400
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Pancreatic cysts, Chronic...	ORPHA:730
Familial Congenital Mirror Movements	Agenesis of corpus callosum, Abnormal corticospinal tract morphology	ORPHA:238722
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Ventricular septal defect, Peripheral pulmonary artery stenosis	OMIM:617992
Xk Aprosencephaly Syndrome	Abnormal external genitalia, Ventricular septal defect, Narrow mouth, Atrial septal defect, Anal ...	ORPHA:3469
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Abnormal tongue morphology, Abnormal heart morphology, Downturned corners of mout...	ORPHA:531151
Joubert Syndrome 39	Hypoplastic left heart, Joint contracture of the 5th finger, Polycystic kidney dysplasia	OMIM:619562
Diphallia	Bifid scrotum, Duplicated colon, Ureteral duplication, Rectoperineal fistula, Hypospadias, Renal ...	ORPHA:227
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Neonatal death, Death in infancy	OMIM:300219
Pulmonary Alveolar Microlithiasis	Bronchitis, Respiratory tract infection, Nonproductive cough, Pleural thickening, Pneumothorax, T...	ORPHA:60025
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Micrognathia, Abnormal cardiac septum morph...	ORPHA:2484
Mesomelia-Synostoses Syndrome	Micromelia, Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Sho...	ORPHA:2496
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Cryptorchidism, Myopathy, Increased variability in muscle fiber diamet...	OMIM:616816
Fabry Disease	Renal insufficiency, Proteinuria, Transient ischemic attack, Ventricular septal hypertrophy, Urin...	OMIM:301500
Heart Defects-Limb Shortening Syndrome	Atrial septal defect, Ventricular septal defect, Mesomelic/rhizomelic limb shortening, Abnormal t...	ORPHA:1354
Yuan-Harel-Lupski Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Aortic root aneurysm,...	OMIM:616652
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab...	OMIM:615418
Glioma Susceptibility 3	Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med...	OMIM:613029
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Microcephaly	ORPHA:2216
Meacham Syndrome	Bicuspid aortic valve, Blind vagina, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventr...	OMIM:608978
Fryns Syndrome	Bifid scrotum, Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Renal...	OMIM:229850
Emanuel Syndrome	Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect...	OMIM:609029
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Congenital Heart Defects, Multiple Types, 2	Bicuspid aortic valve, Ventricular septal defect, Myxomatous mitral valve degeneration, Subvalvul...	OMIM:614980
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Primary microce...	OMIM:615095
Adams-Oliver Syndrome 6	Ventricular septal defect, Splenomegaly, Esophageal varix, Renal hypoplasia, Foot oligodactyly, T...	OMIM:616589
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Sh...	ORPHA:466791
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Congenital diaphragmatic hernia, Micrognathia, Renal cyst, Short philtrum, Microph...	OMIM:618454
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal defect, Hypospadias...	OMIM:619103
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Holoprosencephaly 11	Agenesis of corpus callosum, Holoprosencephaly, Microcephaly	OMIM:614226
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Periventricular nodular heterotopia, Secondary microcephaly, Perivent...	OMIM:619737
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Thin upper lip vermilion, Renal insufficiency, Ambiguous genitalia, Renal agenesis, Congenital di...	OMIM:617641
Cerebrocostomandibular Syndrome	Ectopic kidney, Micrognathia, Renal cyst, Anteriorly placed anus, Glossoptosis, High palate, Atri...	OMIM:117650
Brain Small Vessel Disease 2	Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Polymicrogyria	OMIM:614483
Teebi-Shaltout Syndrome	Ureteral stenosis, Ventricular septal defect, High, narrow palate, Cleft palate, Horseshoe kidney...	OMIM:272950
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner...	ORPHA:1507
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis	OMIM:278300
Pentalogy Of Cantrell	Absent gallbladder, Ventricular septal defect, Abnormal pericardium morphology, Congenital diaphr...	ORPHA:1335
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Hydroureter, Horseshoe kidney, Anteriorly p...	OMIM:619426
Distal Duplication 6P	Micrognathia, Renal hypoplasia, Abnormality of the urinary system, Thin vermilion border, Narrow ...	ORPHA:1745
Adrenocortical Carcinoma	Adrenocortical carcinoma, Lung adenocarcinoma	ORPHA:1501
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Craniofacial Dyssynostosis With Short Stature	Ventricular septal defect, Hypospadias, Pyloric stenosis, Cryptorchidism, Patent ductus arteriosu...	OMIM:218350
Viss Syndrome	Chronic gastritis, Epidural hemorrhage, Tortuous cerebral arteries, Micrognathia, High, narrow pa...	OMIM:619472
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Dysphagia	OMIM:613435
Ogden Syndrome	Bicuspid aortic valve, Cardiomegaly, Secundum atrial septal defect, Micrognathia, Deep philtrum, ...	OMIM:300855
Cenani-Lenz Syndactyly Syndrome	Premature loss of permanent teeth, Hypoplasia of the ulna, Renal agenesis, Ectopic kidney, Microg...	OMIM:212780
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Renal hypoplasia, Cleft p...	OMIM:618975
Pulmonary Hypertension, Primary, 1	Pulmonary aterial intimal fibrosis, Arterial intimal fibrosis, Pulmonary arterial medial hypertro...	OMIM:178600
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Partial anomalous pulmonary venous return, Renal ...	OMIM:617478
Cranioectodermal Dysplasia 2	Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Mi...	OMIM:613610
Chime Syndrome	Short palm, Ventricular septal defect, Abnormal dental morphology, Abnormality of the kidney, Abn...	ORPHA:3474
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Ventricular septal defect, Renal agenesis, Congenital diaphragmatic he...	OMIM:611812
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv...	OMIM:616564
Gabriele-De Vries Syndrome	Facial hypotonia, Aortopulmonary collateral arteries, Abnormality of the dentition, Micrognathia,...	OMIM:617557
Nephrogenic Diabetes Insipidus	Renal insufficiency, Hydroureter, Functional abnormality of the bladder, Enuresis nocturna, Hypos...	ORPHA:223
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia, Dysphagia	ORPHA:171430
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Pericarditis, Renal insufficiency, Recurrent urinary tract infections, Proteinuria,...	OMIM:619487
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp...	ORPHA:2182
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Dilated cardiomyopathy, Pier...	OMIM:614921
Otopalatodigital Syndrome Type 2	Short palm, Abnormal heart valve morphology, Camptodactyly of finger, Hypospadias, Micrognathia, ...	ORPHA:90652
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary interstitial morphology, Bro...	OMIM:620233
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Vici Syndrome	Everted upper lip vermilion, Median cleft lip, Cleft upper lip, Micrognathia, Dilated cardiomyopa...	OMIM:242840
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Micromelia, Cryptorchidism, Hypoplastic left hear...	ORPHA:2772
Epidermal Nevus Syndrome	Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Rhabdomyosarcoma, Aortic a...	ORPHA:35125
Holoprosencephaly 13, X-Linked	Median cleft lip, Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Submucous cl...	OMIM:301043
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Cleft palate, Malar flattening, Truncus arteriosus, Smooth philtrum	OMIM:611867
16P13.11 Microduplication Syndrome	Ventricular septal defect, Coarctation of aorta, Transposition of the great arteries, Atrial sept...	ORPHA:261243
X-Linked Intellectual Disability, Nascimento Type	Ventricular septal defect, Hypospadias, Cryptorchidism, Deep philtrum, Patent ductus arteriosus, ...	ORPHA:163956
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Ambiguous genitalia, Ventricular septal defect, Hypogonadotropic hypogonadis...	OMIM:617159
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Hyperactiv...	ORPHA:209905
German Syndrome	Camptodactyly of finger, Micrognathia, Cryptorchidism, Orofacial cleft, Abnormal cardiac septum m...	ORPHA:2077
Oculoauriculofrontonasal Syndrome	Ventricular septal defect, Micrognathia, Cleft lip, Cleft palate, Narrow mouth, Broad philtrum	ORPHA:398156
Bardet-Biedl Syndrome 1	Decreased testicular size, Dental crowding, Aganglionic megacolon, Abnormality of the kidney, Hig...	OMIM:209900
Atrial Septal Defect 2	Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Pulmonic stenosis, Atrial sept...	OMIM:607941
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Micrognathia, Vesicoureteral reflux, Axial malrotation of the kidney, Atria...	OMIM:274000
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Ventricular septal defect, Hypospadias, Renal agenesis, Protruding tongue,...	OMIM:301040
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiom...	ORPHA:116
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the ribs, Aplasia/Hypoplasia of the clavicles, Camptodactyly of finger, Apl...	ORPHA:2839
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Intestinal malrotation	ORPHA:3032
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Lissencephaly, Death in childhood, Pachygyria, Agenesis of corpu...	OMIM:620316
Duane-Radial Ray Syndrome	Vesicoureteral reflux, Atrial septal defect, Upper limb muscle hypoplasia, Hypoplasia of the ulna...	OMIM:607323
Kabuki Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Orofacial cleft, High palate, Widely spaced...	ORPHA:2322
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Thin corpus callosum, Hypoplasia of the corpus callosum, Abnormality of ...	OMIM:300049
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Renal duplication, Oral mucosal blisters, Urinary bladder inflammation, Conge...	ORPHA:79403
Beta-Mercaptolactate Cysteine Disulfiduria	Atrial septal defect, Abnormality of the ureter, High palate, Micromelia	ORPHA:1035
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Hypouricemia, Renal, 1	Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co...	OMIM:220150
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Micromelia, Micro...	ORPHA:2636
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Ventricular septal defect, Aganglionic megacolon, Ham...	OMIM:174300
Alg9-Cdg	Villous atrophy, Micrognathia, Right ventricular dilatation, Abnormal left ventricular outflow tr...	ORPHA:79328
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Distal urethral duplication, Renal hypoplasia/aplasia, Non-midli...	ORPHA:2549
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Endove Syndrome, Limb-Only Type	Short middle phalanx of the 2nd finger, Fibular hypoplasia, Disproportionate shortening of the ti...	OMIM:619217
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia, Dysphagia	OMIM:620249
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Abnormal cerebral white matter morphology, Pachygyria, Microcephaly	ORPHA:370980
Ventricular Septal Defect 3	Atrial septal defect, Pulmonary artery stenosis, Patent ductus arteriosus, Ventricular septal defect	OMIM:614432
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Small scrotum, Camptodactyly of finger, Micrognathia, Cryptorchidism, Hydron...	ORPHA:2083
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Ventricular septal defect, Left superior vena cava draining directly to...	OMIM:613759
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Submucous cleft hard palate, Cleft ...	ORPHA:2521
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Microretrognathia, 11 pairs of ribs, Bicuspid aortic valve, Rhizomelia, Congenital diaphragmatic ...	OMIM:245600
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Thin upper lip vermilion, Hiatus hernia, Pancreatic cysts, Splenomegaly, Renal cyst...	OMIM:610199
Mogs-Cdg	Hepatomegaly, External genital hypoplasia, Cardiomegaly, Retrognathia, Hepatosplenomegaly, Hydroc...	ORPHA:79330
Acalvaria	Hydrocephalus, Holoprosencephaly, Spina bifida, Abnormality of neuronal migration	ORPHA:945
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Simplified gyral pattern, Microcephaly	OMIM:620001
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Ventricular septal defect, Hypospadias, Cleft upper lip, Cryptorchidism, Patent ductus arteriosus...	OMIM:600460
Joubert Syndrome 37	Decreased testicular size, Hepatomegaly, Cryptorchidism, High palate, Micropenis, Hydronephrosis	OMIM:619185
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec...	ORPHA:308552
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Ventricular septal defect, Wide mouth, Delayed eruption of permanent tee...	OMIM:618506
Musculocontractural Ehlers-Danlos Syndrome	Microretrognathia, Thin upper lip vermilion, Decreased muscle mass, Abnormal heart valve morpholo...	ORPHA:2953
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Hypoplasia of t...	ORPHA:2524
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, Chylothorax, Death in chi...	OMIM:620278
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Absent nipple, Patent ductus arteriosus, Mitral valve prolapse, High palate, Ureteral triplicatio...	OMIM:104350
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Recurrent infections due to aspiration, Respirato...	ORPHA:70
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Filippi Syndrome	Ambiguous genitalia, Ventricular septal defect, Cryptorchidism, Thin vermilion border, Short phil...	OMIM:272440
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, Ventricular septal defect, Exaggerated cupid's...	ORPHA:464738
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Foot joint contracture, Micrognathia, Cryptorchidism, Dental malocclus...	ORPHA:444072
Trisomy 20P	Smooth philtrum, Macroorchidism, Hypospadias, Camptodactyly of finger, Abnormality of the kidney,...	ORPHA:261318
Koolen-De Vries Syndrome	Recurrent urinary tract infections, Ventricular septal defect, Bicuspid aortic valve, Cleft upper...	OMIM:610443
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Recurrent urinary tract infections, Ventricula...	ORPHA:2438
Silver-Russell Syndrome 1	Urethral valve, Hypospadias, Decreased response to growth hormone stimulation test, Micrognathia,...	OMIM:180860
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Natal tooth, Torticollis, Abnormal mandible morphology, Cleft palate, Arthrogryposis multiplex co...	OMIM:217150
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar...	ORPHA:488618
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tented upper lip vermilion, Patent ductus arteriosus after premature birth,...	OMIM:618460
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure, Anorexia	OMIM:619386
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect, Patent fo...	OMIM:620327
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus, Aplasi...	ORPHA:3320
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Nephropathy, Vascular dil...	OMIM:617056
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Double outlet left ventricle, Ventricular septal defect, Intestinal malrota...	ORPHA:2255
Ulbright-Hodes Syndrome	Micrognathia, High palate, Phocomelia, Abnormal penis morphology, Short metacarpal, Abnormal exte...	ORPHA:3404
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Mitral valve prolapse, Pol...	ORPHA:371428
Hydrolethalus Syndrome 2	Agenesis of corpus callosum, Hydrocephalus, Anencephaly	OMIM:614120
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Cryptorchidism, Subvalvular aortic stenosis, Atrial septal defect, Pel...	OMIM:613001
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Hematuria, Lacunar stroke, Dilata...	OMIM:611773
Branchio-Oculo-Facial Syndrome	Multicystic kidney dysplasia, Renal agenesis, Deep philtrum, Non-midline cleft lip, Orofacial cle...	ORPHA:1297
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis	ORPHA:896
Arima Syndrome	Hepatomegaly, Proteinuria, Polyuria, Esophageal varix, Stage 5 chronic kidney disease, Wide mouth...	OMIM:243910
Aneurysm-Osteoarthritis Syndrome	Uterine prolapse, Arterial dissection, Camptodactyly of finger, Arterial tortuosity, Dilatation o...	ORPHA:284984
Igg4-Related Aortitis	Intestinal obstruction, Thoracic aortic aneurysm, Abnormal aortic arch morphology, Ascending tubu...	ORPHA:449400
Webb-Dattani Syndrome	Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp...	OMIM:615926
Brachydactyly, Type B1	Hypoplastic sacrum, Ventricular septal defect, Aplasia/Hypoplasia of the distal phalanges of the ...	OMIM:113000
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Cleft palate	ORPHA:217
Hypophosphatasia	Emphysema, Respiratory insufficiency	ORPHA:436
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Emanuel Syndrome	Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High...	ORPHA:96170
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Ventricular septal defect, Splenomegaly, Cleft ...	OMIM:620210
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal periven...	OMIM:616900
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood	OMIM:619423
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Cutaneous leiomyosarcoma, Renal cyst, Renal cell carcinoma, Large intestinal poly...	OMIM:135150
Autosomal Dominant Omodysplasia	Bifid scrotum, Short humerus, Hypoplasia of penis, Rhizomelia, Micrognathia, Cryptorchidism, Shor...	ORPHA:93328
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Takenouchi-Kosaki Syndrome	Thin upper lip vermilion, Hypospadias, Unilateral renal agenesis, Cryptorchidism, Patent ductus a...	OMIM:616737
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Squamous cell carcinoma	OMIM:615225
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Multicystic kidney dysplasia, Ambiguous genitalia, Hypospadias, Nephroblastoma, Mi...	OMIM:257300
15Q Overgrowth Syndrome	Mandibular prognathia, Microretrognathia, Contracture of the proximal interphalangeal joint of th...	ORPHA:314585
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Ketonuria, Dic...	OMIM:619355
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Micrognathia, Flexion contracture, Renal cyst, Knee flexion contracture, Short philtr...	OMIM:210710
Schöpf-Schulz-Passarge Syndrome	Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:50944
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Ventricular septal defect, Bicuspid aortic valve, Cryptorchidism, Vesicoureteral reflux, Cleft pa...	ORPHA:453499
Developmental Delay, Language Impairment, And Ocular Abnormalities	Contracture of the proximal interphalangeal joint of the 5th finger, Hydronephrosis, Pulmonic ste...	OMIM:620141
Urban-Rogers-Meyer Syndrome	Hypoplasia of penis, Abnormality of the philtrum, Camptodactyly of finger, Micrognathia, Cryptorc...	ORPHA:3409
Meckel Syndrome, Type 5	Renal cyst, Bile duct proliferation, Cleft palate, Cleft upper lip	OMIM:611561
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Ventricular septal defect, Pulmonary artery stenosis, Abnormality of the anterior pituitary, Rena...	ORPHA:75389
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Gray matter h...	OMIM:615219
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Mosaic Trisomy 1	Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic h...	ORPHA:1692
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Flexion contracture, Congenit...	ORPHA:158684
Intellectual Developmental Disorder, Autosomal Recessive 79	Short hallux, Thin upper lip vermilion, Ventricular septal defect, Smooth philtrum	OMIM:620393
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul...	OMIM:617201
Seckel Syndrome 5	11 pairs of ribs, Hypospadias, Selective tooth agenesis, Micrognathia, Cryptorchidism, Cleft pala...	OMIM:613823
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Intestinal malrotation, Situs inversus totalis, Atrioventricular canal defect, Left...	OMIM:605376
Chromosome 2P16.1-P15 Deletion Syndrome	Decreased testicular size, Thin upper lip vermilion, High, narrow palate, Cryptorchidism, Retrogn...	OMIM:612513
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Death in childhood, Dysplastic corpus callosum, Microcephaly	OMIM:604273
Tarp Syndrome	Micrognathia, Cryptorchidism, Pierre-Robin sequence, Alveolar ridge overgrowth, Cleft palate, Ton...	ORPHA:2886
Diamond-Blackfan Anemia 7	Small hypothenar eminence, Ventricular septal defect, Secundum atrial septal defect, Short thumb,...	OMIM:612562
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Cleft palate, Narrow mouth, Atrial septal defect, Malar flattening	ORPHA:93946
Xeroderma Pigmentosum Variant	Melanoma, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:90342
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Ventricular septal defect, Selective tooth agenesis, Hypospadias, Cleft upper lip, Conical tooth,...	OMIM:106260
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, High palate, Atrial septal defect, Phoco...	OMIM:268300
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Tubular luminal dilatation, Renal corticomedullar...	OMIM:219730
Walker-Warburg Syndrome	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ab...	ORPHA:899
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Micromelia, High, narrow palate, Micrognathia, R...	OMIM:122470
Joubert Syndrome 35	Hydronephrosis, Renal fibrosis, Multicystic kidney dysplasia, Recurrent urinary tract infections	OMIM:618161
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Facial palsy, Thyroi...	OMIM:620186
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Ventricular septal defect, Micrognathia, Downturned corners of mouth, Short philtrum,...	ORPHA:93267
Isolated Klippel-Feil Syndrome	Congenital muscular torticollis, Ventricular septal defect, Renal hypoplasia/aplasia, Cleft palat...	ORPHA:2345
Tyshchenko Syndrome	Ventricular septal defect, Supernumerary nipple, High, narrow palate, Cryptorchidism, Narrow pala...	OMIM:615102
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Intestinal malrotation, Cleft palate, Rectovaginal fistula, Anal atresia, R...	OMIM:270420
Cardiac-Valvular Ehlers-Danlos Syndrome	Abnormal heart valve morphology, Dental crowding, Mitral valve prolapse, Aortic root aneurysm, Hi...	ORPHA:230851
Hyperekplexia 4	Respiratory failure	OMIM:618011
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Noonan Syndrome 12	11 pairs of ribs, Ventricular septal defect, Decreased response to growth hormone stimulation tes...	OMIM:618624
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Bilateral cleft palate, Short femur, Ventricular septal defect, Bilateral cleft lip, Cleft upper ...	OMIM:601357
Short Stature-Micrognathia Syndrome	Small scrotum, Ventricular septal defect, Rhizomelia, Micrognathia, Cryptorchidism, Cleft palate,...	OMIM:617164
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Ventricular septal defect, Patent ductus arteriosus, Flexion contracture, ...	OMIM:613870
Tuberous Sclerosis Complex	Renal insufficiency, Abnormality of the kidney, Pituitary adenoma, Chronic kidney disease, Parath...	ORPHA:805
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Hepatomegaly, Neurogenic bladder, Protruding tongue, Secundum atrial sep...	OMIM:608779
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Patent ductus arteriosus, Down...	OMIM:618652
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Intestinal malrotation, Situs inversus totalis, Common atrium, Hypo...	OMIM:616749
Meckel Syndrome, Type 10	Hypospadias, Renal cyst, Cleft palate, Camptodactyly, Micropenis, Bifid uvula	OMIM:614175
Methimazole Embryofetopathy	Ventricular septal defect, Hypospadias, Esophageal atresia, Tracheoesophageal fistula, Coarctatio...	ORPHA:1923
Intermediate Nemaline Myopathy	Respiratory failure, Dysphagia	ORPHA:171433
Vici Syndrome	Renal tubular acidosis, Cardiomyopathy, High palate, Ureteral atresia	ORPHA:1493
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, Thyroid hypoplasia, Hypoplastic scapulae, Unilat...	OMIM:308050
Joubert Syndrome 14	Tented upper lip vermilion, Ventricular septal defect, Cleft palate, Renal cyst, Intracranial hem...	OMIM:614424
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Respiratory insufficiency	ORPHA:370968
Distal Duplication 5Q	Hypoplasia of the ulna, Ventricular septal defect, Dextrocardia, Hypospadias, Micrognathia, Cario...	ORPHA:96097
17Q12 Microdeletion Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Cryptorchidism, Uret...	ORPHA:261265
Isotretinoin Embryopathy-Like Syndrome	Cleft palate, Conotruncal defect, Micrognathia	OMIM:243440
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertensi...	ORPHA:258
Trisomy 8P	Short fourth metatarsal, Multiple joint contractures, Abnormal atrioventricular connection, Fetal...	ORPHA:264450
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	Mandibular prognathia, Ureteral duplication, Endometrial carcinoma, High, narrow palate, Duplicat...	ORPHA:457212
Down Syndrome	Ventricular septal defect, Aganglionic megacolon, Protruding tongue, Short middle phalanx of the ...	OMIM:190685
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Short metacarpal, Ventricular septal defect, Micrognathia, Cryptorchidism, Renal cyst, Horseshoe ...	ORPHA:166035
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:3226
3Mc Syndrome 1	Ventricular septal defect, Dental crowding, Diastasis recti, Cleft upper lip, Supernumerary nippl...	OMIM:257920
Congenital Aortic Valve Stenosis	Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar...	ORPHA:3093
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a...	OMIM:613795
8P23.1 Microdeletion Syndrome	Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Cryptorchidism, Patent ductus arterio...	ORPHA:251071
Nabais Sa-De Vries Syndrome, Type 2	Multicystic kidney dysplasia, Micrognathia, Bilateral cleft lip and palate, Thin vermilion border...	OMIM:618829
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Smooth philtrum, Renal dysplasia, Abnormality of the dentition, Patent ductus arteriosus, Small h...	OMIM:300968
Kapur-Toriello Syndrome	Hypoplasia of penis, Ventricular septal defect, Intestinal malrotation, Patent ductus arteriosus,...	ORPHA:2328
Charge Syndrome	Decreased response to growth hormone stimulation test, External genital hypoplasia, Micrognathia,...	OMIM:214800
Bardet-Biedl Syndrome 17	Short fourth metatarsal, Dextrocardia, Polyuria, Situs inversus totalis, Stage 5 chronic kidney d...	OMIM:615994
Aredyld Syndrome	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morphology...	ORPHA:1133
Desmoid Tumor	Intestinal polyposis, Intestinal obstruction, Abnormality of the upper urinary tract, Malabsorpti...	ORPHA:873
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hepatomegaly, Ventricular septal defect, Hypospadias, Protruding tongue, Micrognathia, High, narr...	OMIM:214100
Hypomandibular Faciocranial Dysostosis	Pursed lips, Micrognathia, Hypoplasia of the maxilla, Patent ductus arteriosus, Aglossia, Atrial ...	OMIM:241310
Grange Syndrome	Patent ductus arteriosus, Ventricular septal defect, Arterial stenosis, Short palm	ORPHA:79094
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormal periventricular white matter morphology, Pachygyria, Abnormality of neuronal migration	OMIM:608840
Microcephaly 20, Primary, Autosomal Recessive	Renal hypoplasia, Ureteral agenesis, Hypoplasia of the uterus, Bilateral renal agenesis, Hyperech...	OMIM:617914
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Hepatic cysts, Situs inversus totalis, Aortic valve stenosis, P...	OMIM:615415
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Mitral valve calcification, Proteinuria, Micrognathia, Intra-oral hyperpigmentation...	OMIM:619127
Micro Syndrome	Hypoplasia of penis, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Abnormal localizatio...	ORPHA:2510
Cleft Lip/Palate	Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in...	ORPHA:199306
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatomegaly, Ventricular septal defect, Splenomegaly, Chronic kidney disease, Orofacial cleft, S...	OMIM:615630
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Natal tooth, Ventricular septal defect, Proteinuria, Micrognathia, Hematuria, Tubulointerstitial ...	OMIM:616901
Chromosome 9P Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Micrognathia, High, narrow pala...	OMIM:158170
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Skeletal muscle atrophy, Ventricular septal defe...	ORPHA:435638
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Pyloric stenosis, Pulmonic stenosis, Camptodactyly, Atrial septal defe...	OMIM:614262
C Syndrome	Hepatomegaly, Short metacarpal, Ventricular septal defect, Accessory oral frenulum, Micromelia, M...	OMIM:211750
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Aplasia/Hypoplasia of the maxilla, Aplasia...	ORPHA:40366
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	High palate, Hydronephrosis, Cleft palate, Limb hypertonia	ORPHA:488613
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Ventricular septal defect, Intestinal malrotation, Cryptorchidism, Wide mouth, Micro...	OMIM:617798
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Thick corpus callosum, Periventricular heterotopia	OMIM:618273
Mosaic Trisomy 8	Decreased testicular size, Camptodactyly of finger, Micrognathia, Cryptorchidism, Patellar aplasi...	ORPHA:96061
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Microretrognathia, Natal tooth, Rhizomelia, Hamartoma of tongue, Cleft lip, Cryptorchidism, Paten...	OMIM:616300
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Ventricular septal defect, Protruding tongue, Cryptorchidism, Patent ductus arteriosus, Alveolar ...	OMIM:612938
Oncogenic Osteomalacia	Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t...	ORPHA:352540
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Microcephaly, Diffuse white matter abnormalities, Hydrocephalus, Gray ma...	ORPHA:370959
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Multicystic kidney dysplasia, Abnormal dental enamel...	ORPHA:2750
Diamond-Blackfan Anemia 10	Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Morgagni diaphragmati...	OMIM:613309
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Microcephaly, Hydrocephalus, Progressive microcephaly, Lissencephaly, Agenesis of corpus callosum...	OMIM:615249
Proboscis Lateralis	Aplasia/Hypoplasia of the maxilla, Ventricular septal defect, External genital hypoplasia, Unilat...	ORPHA:141099
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Bile duct proliferation, Cleft palate	OMIM:607361
1Q21.1 Microdeletion Syndrome	Cryptorchidism, Patent ductus arteriosus, Short foot, Abnormal cardiac septum morphology, High pa...	ORPHA:250989
Peripartum Cardiomyopathy	Left atrial enlargement, Myocarditis, Dilated cardiomyopathy, Abnormal atrioventricular valve mor...	ORPHA:563
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Ventricular septal defect, Micrognathia, Renal cyst, Horseshoe kidney, Thick ve...	OMIM:250410
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Clitoral hypoplasia,...	OMIM:268310
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,...	OMIM:618223
Fontaine Progeroid Syndrome	Mandibular prognathia, Small scrotum, Bicuspid aortic valve, Micrognathia, High, narrow palate, H...	OMIM:612289
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	11 pairs of ribs, Thin upper lip vermilion, Dental crowding, Short toe, Pierre-Robin sequence, An...	OMIM:617877
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Pancreatic cysts, Splenome...	ORPHA:731
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Anteriorly placed anus, Downturned corners of mouth, Clito...	OMIM:616894
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Dysgenesis of the basal ganglia, Agenesis of corpus callosum, Hypoplastic anterior commissure, Hy...	OMIM:600638
Char Syndrome	Ventricular septal defect, Supernumerary nipple, Persistence of primary teeth, No permanent denti...	ORPHA:46627
Kapur-Toriello Syndrome	Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Cleft upper lip, Shor...	OMIM:244300
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Hypoplasia ...	ORPHA:1307
Riddle Syndrome	Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo...	ORPHA:420741
Igg4-Related Kidney Disease	Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nephritis, Abnorma...	ORPHA:449395
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Acquired Aneurysmal Subarachnoid Hemorrhage	Cerebral hemorrhage, Ischemic stroke, Left ventricular hypertrophy, Hypopituitarism, Abnormal cer...	ORPHA:90065
Thiamine-Responsive Megaloblastic Anemia Syndrome	Ventricular septal defect, Situs inversus totalis, Cryptorchidism, Cardiomyopathy, Aminoaciduria,...	OMIM:249270
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Chronic gastritis, Thin upper lip vermilion, Scapular winging, Bicuspid ao...	OMIM:150230
Tetrasomy 9P	Myositis, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum...	ORPHA:3310
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Vater/Vacterl Association	Renal dysplasia, Ventricular septal defect, Hypospadias, Renal agenesis, Ectopic kidney, Absent r...	OMIM:192350
Non-Syndromic Posterior Hypospadias	Bifid scrotum, Congenital diaphragmatic hernia, Esophageal atresia, Ventral shortening of foreski...	ORPHA:95706
Microphthalmia, Syndromic 2	Flexion contracture, Oligodontia, Fused teeth, Atrial septal defect, Contracture of the proximal ...	OMIM:300166
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Aplasia/Hypoplasia of the thumb, Ventricular septal defect, Micromelia, Mi...	ORPHA:1908
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Ventricular septal defect, Dextrocardia, Cryptorchidism, Downturned cor...	OMIM:618067
Bardet-Biedl Syndrome 6	Vaginal atresia, Hypospadias, External genital hypoplasia, Renal cyst	OMIM:605231
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatomegaly, Recurrent urinary tract infections, Cor triatriatum, Prominent superficial veins, S...	OMIM:612541
Delpire-Mcneill Syndrome	Cortical dysplasia, Agenesis of corpus callosum	OMIM:619083
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ...	ORPHA:365
Dermatomyositis	Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma, Abnormal pulmonary int...	ORPHA:221
Triploidy	Hepatomegaly, Hypoplasia of penis, Hypospadias, Intestinal malrotation, Micrognathia, Cryptorchid...	ORPHA:3376
Frank-Ter Haar Syndrome	Short palm, Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Secundum atrial se...	OMIM:249420
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Pseudotrisomy 13 Syndrome	11 pairs of ribs, Ventricular septal defect, Dextrocardia, Renal agenesis, Cleft upper lip, Compl...	OMIM:264480
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Short philtrum, High palat...	ORPHA:96121
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation, Dysphagia	OMIM:618233
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn...	ORPHA:98905
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Hypospadias, Cryptorchid...	ORPHA:163979
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Cleft upper lip,...	OMIM:600987
Faciocardiorenal Syndrome	Cleft palate, Horseshoe kidney, Endocardial fibroelastosis, Hypodontia, Tricuspid valve prolapse,...	ORPHA:1973
Congenital Heart Defects And Skeletal Malformations Syndrome	Ventricular septal defect, Dental crowding, Intestinal malrotation, Congenital diaphragmatic hern...	OMIM:617602
Opitz Gbbb Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cleft upper lip, Rectourethral ...	OMIM:300000
Meckel Syndrome	Ureteral duplication, Multicystic kidney dysplasia, True hermaphroditism, Pancreatic fibrosis, Ap...	ORPHA:564
Trisomy 18	Microretrognathia, Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic h...	ORPHA:3380
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy, Myopathy, Renal ...	OMIM:614922
Focal Dermal Hypoplasia	Multicystic kidney dysplasia, Abnormal dental morphology, Ventricular septal defect, Abnormal den...	ORPHA:2092
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Coenzyme Q10 Deficiency, Primary, 7	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Klippel-Feil Syndrome 2, Autosomal Recessive	Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:214300
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Cardiac-Urogenital Syndrome	Bifid scrotum, Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal d...	OMIM:618280
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Dysphagia	ORPHA:70472
Thoracoabdominal Syndrome	Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Cleft upper lip, Patent ductus arte...	OMIM:313850
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Hypospadias, Protruding tongue, Persistence of primary teeth,...	OMIM:610253
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Ventricular septal defect, Micrognathia, Complete atrioventricular canal d...	OMIM:619343
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration, Microcephaly	ORPHA:2204
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure, Dysphagia	ORPHA:352447
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,...	ORPHA:158057
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Downturned corners of mouth, Nephrocalcinosis, Widel...	ORPHA:79500
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Abnormal dental morphology, Hypospadias, Malar prominence, Micrognathia, Abnormality of the ureter	ORPHA:2522
Right Atrial Isomerism	Right atrial isomerism, Ventricular septal defect, Dextrocardia, Aortopulmonary collateral arteri...	OMIM:208530
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Cryptorchidism, Patent ductus arte...	ORPHA:500159
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Aganglionic megacolon, Supernumerary nipple, M...	ORPHA:247262
Apert Syndrome	Delayed eruption of teeth, Mandibular prognathia, Overriding aorta, Ventricular septal defect, Es...	OMIM:101200
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Peutz-Jeghers Syndrome	Intestinal obstruction, Pancreatic adenocarcinoma, Esophageal neoplasm, Enlarged polycystic ovari...	ORPHA:2869
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Dysphagia	OMIM:613954
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Widely spaced teeth, High palat...	OMIM:266920
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Advance...	ORPHA:818
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Patent ductus arteriosus, Downturned corners of mouth, Thick vermilion...	OMIM:618974
Nager Syndrome	Aplasia/Hypoplasia of the thumb, Unilateral renal agenesis, Micrognathia, Hypoplasia of the maxil...	ORPHA:245
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Pfeiffer Syndrome Type 3	Intestinal malrotation, Short hallux, Small hand, Cleft palate, Horseshoe kidney, Short foot, Hig...	ORPHA:93260
Wolcott-Rallison Syndrome	Hepatomegaly, Renal insufficiency, Chronic kidney disease, Atrial septal defect, Double outlet ri...	ORPHA:1667
Peters Plus Syndrome	Ureteral duplication, Micromelia, Micrognathia, Bicuspid pulmonary valve, Clitoral hypoplasia, Ab...	ORPHA:709
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Renal hypoplasia, Narrow mouth, Vesicoureteral reflux, Hydronephrosis	OMIM:613735
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Diastema, Cryptorchid...	ORPHA:329224
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure, Dysphagia	OMIM:606612
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Pylori...	ORPHA:261197
Fraser Syndrome 2	Renal agenesis, Intestinal malrotation, Unilateral renal agenesis, Rectal atresia, Renal hypoplas...	OMIM:617666
Idiopathic Pulmonary Arterial Hypertension	Abnormal jugular vein morphology, Right ventricular hypertrophy	ORPHA:275766
Cousin Syndrome	Hypoplastic scapulae, Rhizomelia, Micrognathia, Ambiguous genitalia, female, Alveolar ridge overg...	OMIM:260660
Orofacial Cleft 13	Cleft soft palate, Micrognathia, Oligodontia, Malar flattening, Retrognathia	OMIM:613857
Teebi Hypertelorism Syndrome 1	Thin upper lip vermilion, Natal tooth, Ventricular septal defect, Dental crowding, Micrognathia, ...	OMIM:145420
Meckel Syndrome, Type 6	Abnormal internal genitalia, Absent gallbladder, Cleft upper lip, Renal cyst, Cleft palate, Horse...	OMIM:612284
Alagille Syndrome	Hepatomegaly, Hypoplasia of the ulna, Ventricular septal defect, Renal hypoplasia/aplasia, Microg...	ORPHA:52
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Ventricular septal defect, Intestinal malrotation, Micrognathia, Crypto...	ORPHA:404440
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Coach Syndrome 1	Hepatomegaly, Unilateral renal agenesis, Splenomegaly, Multiple small medullary renal cysts, Esop...	OMIM:216360
Fanconi Anemia, Complementation Group I	Ventricular septal defect, Decreased response to growth hormone stimulation test, Absent thumb, S...	OMIM:609053
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Proteinuria, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teet...	ORPHA:2728
Fabry Disease	Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Proteinuria, Transient isch...	ORPHA:324
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent respiratory infections, Pneumonia, Squamous cell carcinoma, Squamous cell carcinoma of ...	ORPHA:217390
Short Stature And Facioauriculothoracic Malformations	High palate, Ventricular septal defect, Cleft palate, Cleft upper lip	OMIM:609654
Trisomy 8Q	Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Cryptorchidism, Non-midline cleft lip...	ORPHA:1752
Oligomeganephronia	Renal insufficiency, Pulmonary venous occlusion, Proteinuria, Congenital diaphragmatic hernia, Un...	ORPHA:2260
Nocardiosis	Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Emphys...	ORPHA:31204
Axial Osteomalacia	Myopathy, Renal cyst	OMIM:109130
Desmosterolosis	Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ab...	ORPHA:35107
Velocardiofacial Syndrome	Hypoparathyroidism, Ventricular septal defect, Cryptorchidism, Velopharyngeal insufficiency, Subm...	OMIM:192430
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Cryptorchidism, Fetal megacystis, Sh...	ORPHA:73246
3-Methylglutaconic Aciduria Type 7	Respiratory failure, Pneumothorax	ORPHA:445038
Smith-Lemli-Opitz Syndrome	Bifid scrotum, Small scrotum, Dental crowding, Micromelia, Micrognathia, Renal cyst, Atrial septa...	OMIM:270400
Caroli Disease	Hepatomegaly, Splenomegaly, Esophageal varix, Polycystic kidney dysplasia, Cholelithiasis	ORPHA:53035
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Renal hypoplasia, Perimembranous ventricular se...	OMIM:611376
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly	ORPHA:1496
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Respiratory insufficiency	OMIM:615330
Joubert Syndrome 20	Renal cyst	OMIM:614970
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Left ventricular hypertrop...	ORPHA:746
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Aganglionic megacolon, Abnormality of the kidney...	ORPHA:847
2P15P16.1 Microdeletion Syndrome	Decreased testicular size, Multicystic kidney dysplasia, Facial palsy, Camptodactyly of finger, S...	ORPHA:261349
Chromosome 15Q25 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenital diaphragmatic her...	OMIM:614294
Amish Lethal Microcephaly	Death in infancy, Spina bifida, Microcephaly, Lissencephaly, Agenesis of corpus callosum	ORPHA:99742
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno...	ORPHA:1677
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, Intestinal pseudo-obstruction, High, narrow palate, Downturned corners of ...	ORPHA:352665
Stromme Syndrome	Jejunal atresia, Intestinal malrotation, Micrognathia, Bilateral renal hypoplasia, Cleft palate, ...	OMIM:243605
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Phocomelia, Atrial septal defect, Microgastria, Hepatomegaly, Mu...	ORPHA:2538
15Q11.2 Microdeletion Syndrome	Ventricular septal defect, Abnormal heart morphology, Coarctation of aorta, Total anomalous pulmo...	ORPHA:261183
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Small scrotum, Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Ab...	ORPHA:3253
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Dysplastic corpus callosum	OMIM:618810
Atrial Septal Defect 1	Tetralogy of Fallot with pulmonary atresia, Ventricular septal defect, Bicuspid aortic valve, Sec...	OMIM:108800
Trigonocephaly With Short Stature And Developmental Delay	High palate, Ventricular septal defect, Broad alveolar ridges	OMIM:314320
Acrocardiofacial Syndrome	Hypoplasia of penis, Ventricular septal defect, Mitral stenosis, Camptodactyly of finger, Cleft u...	ORPHA:2008
Dextrocardia	Intestinal malrotation, Dextrocardia, Situs inversus totalis, Abnormal reproductive system morpho...	ORPHA:1666
Holoprosencephaly 3	Cleft lip, Cleft palate, Hydronephrosis, Solitary median maxillary central incisor, Malar flatten...	OMIM:142945
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Unilateral renal agenesis, Cleft upper lip, Cryptorchidism, Cleft ...	OMIM:244200
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Renal insufficiency, Protruding tongue, Cryptorchidism, Conotruncal defect, ...	ORPHA:96147
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Verloove Vanhorick-Brubakk Syndrome	Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnormality of the parathyroid gland, Abnorm...	ORPHA:3429
Nephronophthisis 9	Renal cortical microcysts, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:613824
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Frontometaphyseal Dysplasia	Short metacarpal, Interphalangeal joint contracture of finger, Hypoplasia of the musculature, Sho...	ORPHA:1826
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Restrictive ventilatory defect, Respiratory failure, Exertiona...	ORPHA:98913
Short-Rib Thoracic Dysplasia 12	Lobulated tongue, Short palm, Patent foramen ovale, Hepatomegaly, Hamartoma of tongue, Short toe,...	OMIM:269860
Atelis Syndrome 1	Ventricular septal defect, Carious teeth, High palate, Long philtrum, Atrial septal defect	OMIM:620184
Cardiofacioneurodevelopmental Syndrome	Ventricular septal defect, Micrognathia, Cleft lip, Cryptorchidism, Cleft palate, Pulmonic stenos...	OMIM:619123
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent bronchopulmonary infections, Emphysema, Recurrent pneumonia, Bronchiectasis	OMIM:242700
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Micrognathia, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoaciduria, High p...	OMIM:617913
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal...	ORPHA:488627
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Short humerus, Ureteral stenosis, Hypoplasti...	OMIM:309350
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Neurogenic bladder, Recurrent urinary tract infections, Aplasia of the 3rd finger	OMIM:619218
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Hydronephrosis	OMIM:618060
Chromosome 5Q12 Deletion Syndrome	Ventricular septal defect, Micrognathia, Patent ductus arteriosus, Wide mouth, Macroglossia, Shor...	OMIM:615668
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Hypospadias, Ankle flexion contracture, Unilateral renal agenesis, Cry...	ORPHA:464311
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Short toe, Dentinogenesis imperfecta, Retrognathia, Delayed eruption of perma...	OMIM:619269
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
King-Denborough Syndrome	Ventricular septal defect, Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, ...	OMIM:619542
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Hypoplasia of penis, Ventricular septal defect, Hypospadias, Esophageal atresia...	ORPHA:77298
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Micromelia, Pancreatic cysts, Cleft palate, Multiple ...	ORPHA:1318
Familial Adenomatous Polyposis 4	Duodenal polyposis, Gastric adenocarcinoma, Adenomatous colonic polyposis, Renal cyst, Ovarian cy...	OMIM:617100
Seckel Syndrome 9	Recurrent urinary tract infections, Ambiguous genitalia, Ventricular septal defect, Congenital di...	OMIM:616777
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Broad secondary alveolar ridge, High palate, Ventricular septal defect	ORPHA:3369
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Ventricular septal defect, Smooth philtrum	OMIM:602501
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Congenital Disorder Of Glycosylation, Type Iil	Hepatomegaly, Ventricular septal defect, Unilateral renal agenesis, Splenomegaly, Patent ductus a...	OMIM:614576
Microphthalmia, Syndromic 11	Agenesis of corpus callosum	OMIM:614402
Primary Pulmonary Hypoplasia	Ureteral stenosis, Abnormal hemidiaphragm morphology, Dextrocardia, Micrognathia, Secundum atrial...	ORPHA:2257
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Proteinuria, ...	ORPHA:2143
Fanconi Anemia, Complementation Group B	Ventricular septal defect, Renal agenesis, Hypergonadotropic hypogonadism, Absent thumb, Esophage...	OMIM:300514
Thauvin-Robinet-Faivre Syndrome	Renal malrotation, Ventricular septal defect, Renal cyst, Mitral valve prolapse, Macroglossia, Va...	OMIM:617107
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Villous atrophy, Renal cyst, Proximal tubulopathy, Protein-losing enteropathy, Stea...	OMIM:602579
Campomelic Dysplasia	11 pairs of ribs, Small abnormally formed scapulae, Micrognathia, Male pseudohermaphroditism, Cle...	ORPHA:140
Lethal Congenital Contracture Syndrome 10	Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia, Narrow pala...	OMIM:617022
Au-Kline Syndrome	Supernumerary nipple, Cryptorchidism, Chronic kidney disease, Dental malocclusion, Dilatation of ...	OMIM:616580
Giant Cell Arteritis	Renal insufficiency, Pericarditis, Vasculitis, Hematuria, Aortic dissection, Glossitis, Abdominal...	ORPHA:397
Fraser Syndrome 3	Hypoplasia of the bladder, Hypoplasia of penis, Small scrotum, Micrognathia, Short toe, Ureteral ...	OMIM:617667
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Carious teeth, Dental malocclusion, Renal cyst	OMIM:615560
15Q14 Microdeletion Syndrome	Ventricular septal defect, Abnormality of the dentition, Cleft palate, Short philtrum, Long philt...	ORPHA:261190
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi...	OMIM:619503
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis	OMIM:620365
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Craniofacial osteosclerosis, High palate, Atrial septal defect, Bi...	OMIM:300373
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Patent ductus arteriosus, ...	OMIM:601927
Microphthalmia, Syndromic 1	Hydroureter, Bicuspid aortic valve, Dental crowding, Aganglionic megacolon, Cleft upper lip, Hypo...	OMIM:309800
Cowden Syndrome 1	Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Meningioma, Thy...	OMIM:158350
Myhre Syndrome	Mandibular prognathia, External genital hypoplasia, Hypoplasia of the maxilla, Epispadias, Short ...	ORPHA:2588
Pelger-Huet Anomaly	Ventricular septal defect, Abnormality of the dentition, Gingival overgrowth, Upper limb undergro...	OMIM:169400
Peters-Plus Syndrome	Ureteral duplication, Hypoplasia of the vagina, Short lingual frenulum, Bilobate gallbladder, Mic...	OMIM:261540
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Thin upper lip vermilion, Macroorchidism, Ventricular septal defect, Dental crowding, Micrognathi...	OMIM:309520
Mosaic Trisomy 20	Ventricular septal defect, Abnormality of the kidney, Micrognathia, Cleft lip, Cryptorchidism, Dy...	ORPHA:1724
Peroxisome Biogenesis Disorder 11A (Zellweger)	Multiple renal cysts, Renal cyst	OMIM:614883
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Microcephaly, Hydrocephalus, Hydranencephaly, Polymicrogyria, Agenesis of corpus callosum	OMIM:225790
Meckel Syndrome, Type 2	Renal cyst, Bile duct proliferation, Intestinal malrotation, Cleft palate	OMIM:603194
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Abnormal heart morphology, Down...	ORPHA:369891
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Supernumerary nipple, Cryptorchidism, Arteria lusoria, Anteriorly placed anus, High palate, Vesic...	OMIM:618653
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Downturned corners ...	OMIM:601808
Bohring-Opitz Syndrome	Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ...	OMIM:605039
Lambotte Syndrome	Retrognathia, Ventricular septal defect, Narrow mouth	OMIM:245552
Snakebite Envenomation	Epistaxis, Neuromuscular dysphagia, Respiratory failure, Pseudobulbar paralysis, Respiratory para...	ORPHA:449285
Autosomal Recessive Cutis Laxa Type 2A	Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcephaly, Primary microcephaly, ...	ORPHA:357058
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Juvenile gastrointestinal polyposis, Adenomatous colonic polyposis, Multipl...	ORPHA:480536
Joubert Syndrome 21	Apnea, Dyspnea, Respiratory failure, Pulmonary hypoplasia, Dysphagia, Chronic sinusitis	OMIM:615636
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Micrognathia, Cleft palate, Glossoptosis...	ORPHA:1393
Weill-Marchesani Syndrome	Short thumb, Aortic valve stenosis, Ventricular septal defect, Pulmonic stenosis	ORPHA:3449
Autosomal Dominant Progressive External Ophthalmoplegia	Facial palsy, Goiter, Quadriceps muscle weakness, Dilated cardiomyopathy, Ragged-red muscle fiber...	ORPHA:254892
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:618186
Mosaic Trisomy 16	Single coronary artery origin, Ventricular septal defect, Hypospadias, Short thumb, Patent ductus...	ORPHA:1708
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Exaggerated cupid's bow, Diastasis recti, Flexion contracture, Retrognathia, Macroglossia, Campto...	ORPHA:254528
Congenital Heart Defects, Multiple Types, 3	Atrial septal defect, Tetralogy of Fallot, Persistent left superior vena cava, Abnormal heart mor...	OMIM:614954
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Ventricular septal defect, Exaggerated cupid's bow, Deep philtrum, V...	OMIM:615879
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Cryptorchidism, Dental malocclusion, High palate, Narr...	ORPHA:2115
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
19Q13.11 Microdeletion Syndrome	Bifid scrotum, Ventricular septal defect, Hypospadias, Supernumerary nipple, Cryptorchidism, Wide...	ORPHA:217346
Woods Syndrome	Thin vermilion border, Ventricular septal defect, Supernumerary nipple	OMIM:615236
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma	ORPHA:357154
Kagami-Ogata Syndrome	Hepatomegaly, Ventricular septal defect, Diastasis recti, Micrognathia, Hypoplasia of the maxilla...	OMIM:608149
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, High palate, Short philtrum, Hypoplasi...	OMIM:188400
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ...	ORPHA:2036
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Vesicoureteral reflux, Atrial septal defect, Hypospadias,...	ORPHA:353281
Renal And Mullerian Duct Hypoplasia	Micrognathia, Renal hypoplasia, Horseshoe kidney, Anteriorly displaced urethral meatus, Hydrocele...	OMIM:266810
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Thin corpus callosum, Microcephaly	OMIM:619694
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Respiratory failure	ORPHA:363400
Okamoto Syndrome	Ureteropelvic junction obstruction, Exaggerated median tongue furrow, Anal stenosis, Tented upper...	ORPHA:2729
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Glandular hypospadias, Downturned corners of mouth, Nephr...	OMIM:136140
Cardiofaciocutaneous Syndrome 1	Abnormality of the dentition, Open bite, Splenomegaly, Deep philtrum, Submucous cleft hard palate...	OMIM:115150
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Hypospadias, Unilateral renal agenesis, Pat...	ORPHA:487796
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Leber Congenital Amaurosis	Encephalocele, Abnormality of neuronal migration	ORPHA:65
Autosomal Recessive Spondylocostal Dysostosis	Hypospadias, Camptodactyly of finger, Congenital diaphragmatic hernia, Cryptorchidism, Abnormalit...	ORPHA:2311
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma	ORPHA:43393
Lateral Meningocele Syndrome	Decreased muscle mass, Neurogenic bladder, Ventricular septal defect, Bicuspid aortic valve, Dent...	OMIM:130720
Timothy Syndrome	Thin upper lip vermilion, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Micr...	OMIM:601005
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Abnormal coronary artery course, Cardiom...	ORPHA:3427
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Micrognathia, Missing ribs, Cryptorchidism, Orofacial cleft, Narrow...	ORPHA:3301
Aase-Smith Syndrome I	Open mouth, Flexion contracture, Ventricular septal defect, Cleft palate	OMIM:147800
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Ventricular septal defect, Dental crowding, External genital...	ORPHA:251028
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Contracture of the proximal i...	OMIM:300998
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure, Dysphagia	OMIM:620166
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Ventricular septal defect, Hypospadias, Unilateral renal agenesis, A...	ORPHA:464306
Septooptic Dysplasia	Agenesis of corpus callosum, Absent septum pellucidum	OMIM:182230
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of fir...	OMIM:154400
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Respiratory failure, Dys...	ORPHA:496641
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure	ORPHA:75840
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Mitral atresia, Patent ductus arteriosus, Double outlet right ventricle, Supravalvar pulmonary st...	OMIM:618164
Spinocerebellar Ataxia Type 1	Respiratory failure, Dysphagia	ORPHA:98755
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Downturned corners of mouth, High palate, Atrial septal...	OMIM:619522
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta...	ORPHA:97362
Hypomelanosis Of Ito	Gray matter heterotopia, Cerebral atrophy, Microcephaly	OMIM:300337
Transaldolase Deficiency	Hepatomegaly, Ventricular septal defect, Splenomegaly, Deep philtrum, Patent ductus arteriosus, H...	OMIM:606003
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Ventricular septal defect, Bicuspid aortic valve, Celiac disease, Absent...	ORPHA:284169
Insulin-Like Growth Factor I, Resistance To	Thin upper lip vermilion, Ventricular septal defect, Micrognathia, Narrow mouth, Small hand, Shor...	OMIM:270450
Schisis Association	Renal agenesis, Congenital diaphragmatic hernia, Micromelia, Tracheoesophageal fistula, Cleft pal...	ORPHA:63862
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Schopf-Schulz-Passarge Syndrome	Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma	OMIM:224750
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent ductus arteriosus, Short ...	ORPHA:2519
Roifman Syndrome	Noncompaction cardiomyopathy, Thin upper lip vermilion, Hepatomegaly, Ventricular septal defect, ...	OMIM:616651
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Ventricular septal defect, Intestinal atresia, Abnormal aortic morphology, Abnormal tricuspid val...	ORPHA:3405
Jansen-De Vries Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Central diaphragmatic...	OMIM:617450
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Junctional Epidermolysis Bullosa Inversa	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	ORPHA:79405
Hydrolethalus Syndrome 1	Median cleft lip, Ventricular septal defect, Hypospadias, Micrognathia, Bifid uterus, Complete at...	OMIM:236680
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Cleft upper...	ORPHA:819
19P13.3 Microduplication Syndrome	Ventricular septal defect, Unilateral cryptorchidism, Micrognathia, Precocious puberty, Cleft pal...	ORPHA:447980
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Cryptorchidism, Wide mouth, Macroglossia, Everted lower lip vermilion, Transposition of the great...	OMIM:616789
Microform Holoprosencephaly	Hypoplasia of penis, Tented upper lip vermilion, Renal agenesis, Ambiguous genitalia, Orofacial c...	ORPHA:280200
Ulnar-Mammary Syndrome	Hypoplasia of penis, Ventricular septal defect, Camptodactyly of finger, Pyloric stenosis, Crypto...	ORPHA:3138
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean	OMIM:604320
Igg4-Related Retroperitoneal Fibrosis	Renal insufficiency, Dysuria, Varicocele, Renovascular hypertension, Renal tubular epithelial nec...	ORPHA:49041
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Thin upper lip vermilion, Scapular winging, Ventricular septal defect, Dental crowding, Micrognat...	OMIM:617061
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Jacobsen Syndrome	Multicystic kidney dysplasia, Ventricular septal defect, Intestinal malrotation, Missing ribs, Py...	ORPHA:2308
Tuberous Sclerosis 1	Dental enamel pits, Precocious puberty, Gingival fibromatosis, Renal cyst, Cardiac rhabdomyoma, R...	OMIM:191100
Restrictive Dermopathy	Natal tooth, Ureteral duplication, Multiple joint contractures, Hypospadias, Dextrocardia, Campto...	ORPHA:1662
Eec Syndrome	Aplasia/Hypoplasia of the thumb, Hypospadias, Abnormal dental enamel morphology, Decreased respon...	ORPHA:1896
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Patent ductus arteriosus, Ventricular septal defect	OMIM:617044
Holoprosencephaly 14	Median cleft lip, Ventricular septal defect, Cleft lip, Aortic valve atresia, Cleft palate, Doubl...	OMIM:619895
Agnathia-Otocephaly Complex	Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Aglossia, Cleft palate, Narr...	OMIM:202650
Al-Gazali Syndrome	Wrist flexion contracture, Hydronephrosis, Micrognathia	OMIM:609465
Ohdo Syndrome, Sbbys Variant	Thin upper lip vermilion, Hypospadias, Micrognathia, Cryptorchidism, Dilated cardiomyopathy, Clef...	OMIM:603736
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Ventricular septal defect, Micrognathia, Precocious puberty, Cryptorchidism, Sh...	OMIM:620073
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Abnormal cardiac ventricle morphology, Patent ductus arterio...	ORPHA:2306
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Deep philtrum, Patent ductus arteriosus, R...	OMIM:617260
Robinow Syndrome, Autosomal Dominant 2	Thin upper lip vermilion, Dental crowding, Cleft soft palate, Abnormality of the dentition, Micro...	OMIM:616331
Ritscher-Schinzel Syndrome 2	Ventricular septal defect, Intestinal malrotation, Camptodactyly of finger, Protruding tongue, Cr...	OMIM:300963
Poland Syndrome	Duplicated collecting system, Aplasia/Hypoplasia of the thumb, Hypospadias, Dextrocardia, Congeni...	ORPHA:2911
Diamond-Blackfan Anemia 5	Ventricular septal defect, Hypospadias	OMIM:612528
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Diaphanospondylodysostosis	Nephrogenic rest, Micrognathia, Missing ribs, Nephroblastomatosis, Cleft palate, Horseshoe kidney...	OMIM:608022
Bardet-Biedl Syndrome	Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney dysplasia, Cryptorchidism, Nephr...	ORPHA:110
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Thin corpus cal...	OMIM:619775
Poretti-Boltshauser Syndrome	Gray matter heterotopia, Abnormal periventricular white matter morphology	OMIM:615960
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Agitation, Abnormal respiratory system physiology	ORPHA:803
Kabuki Syndrome 1	Ureteropelvic junction obstruction, Anal stenosis, Crossed fused renal ectopia, Ventricular septa...	OMIM:147920
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat...	OMIM:180849
Rere-Related Neurodevelopmental Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Cryptorchidism, Abnormal heart morphology, ...	ORPHA:494344
Joubert Syndrome 7	Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis	OMIM:611560
Developmental And Epileptic Encephalopathy 49	Cerebral calcification, Microcephaly, Basal ganglia calcification, Hydrocephalus, Dysplastic corp...	OMIM:617281
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Renal Cysts And Diabetes Syndrome	Multiple glomerular cysts, Hypospadias, Abnormality of the kidney, Unilateral renal agenesis, Pro...	OMIM:137920
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Ventricular septal defect, Abnormal right ventri...	ORPHA:500095
Intellectual Developmental Disorder, Autosomal Dominant 48	Ventricular septal defect, Hypospadias, Bicuspid aortic valve, Patent ductus arteriosus, Open mouth	OMIM:617751
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Ventricular septal defect, Hypospadias, Micrognathia, Cleft lip, Cryptorchidism, Patent ductus ar...	OMIM:616975
Bladder Exstrophy	Recurrent urinary tract infections, Hypoplasia of penis, Intestinal malrotation, Epispadias, Abno...	ORPHA:93930
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Hypospadias, Cryptorchidism, Urolithiasis, Hyperuricosuria, Wide mouth, High...	OMIM:300661
19P13.12 Microdeletion Syndrome	Short palm, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Cleft pal...	ORPHA:254346
Hydrocephaly-Low Insertion Umbilicus Syndrome	Patent ductus arteriosus, Abnormality of the urinary system, Tetralogy of Fallot, Anomalous pulmo...	ORPHA:2184
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Renal insufficiency, Hypospa...	ORPHA:93111
Severe X-Linked Intellectual Disability, Gustavson Type	Vesicoureteral reflux, Contractures of the large joints, Ventricular septal defect, Micrognathia	ORPHA:3078
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card...	OMIM:615279
Charge Syndrome	Bifid scrotum, Vesicoureteral reflux, Micropenis, Hypogonadotropic hypogonadism, Facial palsy, Cl...	ORPHA:138
Holt-Oram Syndrome	Ventricular septal defect, Absent thumb, Patent ductus arteriosus, Anomalous pulmonary venous ret...	ORPHA:392
Caroli Syndrome	Hepatomegaly, Abnormality of the kidney, Esophageal varix, Polycystic kidney dysplasia, Abnormal ...	ORPHA:480520
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Recurrent respiratory infections, Cough	ORPHA:2314
Multifocal Atrial Tachycardia	Ventricular septal defect, Cryptorchidism, Pulmonic stenosis, Atrial septal defect, Hypertrophic ...	ORPHA:3282
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Partial absence...	ORPHA:955
Atelosteogenesis Type I	Short femur, Rhizomelia, Micrognathia, Malrotation of colon, Cleft palate, Multiple renal cysts, ...	ORPHA:1190
Cardiofaciocutaneous Syndrome	Abnormal heart valve morphology, Cryptorchidism, Submucous cleft hard palate, High palate, Hypopl...	ORPHA:1340
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom...	OMIM:200990
Osteopetrosis With Renal Tubular Acidosis	Hepatomegaly, Persistence of primary teeth, Abnormality of the dentition, Micrognathia, Thick low...	ORPHA:2785
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Carcinoma	OMIM:610644
Rabson-Mendenhall Syndrome	Mandibular prognathia, Enlarged ovaries, Ventricular septal defect, Dental crowding, Abnormality ...	ORPHA:769
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Thin upper lip vermilion, Ventricular septal defect, Cryptorchidism, Flexion contracture, High pa...	OMIM:617452
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Congenital diaph...	OMIM:612530
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Wide mouth, Widely-spaced incisors	OMIM:617635
Specc1L-Related Hypertelorism Syndrome	Ventricular septal defect, Ectopic kidney, Cryptorchidism, Short toe, Patent ductus arteriosus, O...	ORPHA:1519
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Chops Syndrome	Ventricular septal defect, High, narrow palate, Splenomegaly, Cryptorchidism, Patent ductus arter...	OMIM:616368
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Ventricular septal defect, Patent ductus arteriosus, Cleft palate, High palate, Retrognathia	ORPHA:52055
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
2Q37 Microdeletion Syndrome	Multicystic kidney dysplasia, Short metacarpal, Congenital diaphragmatic hernia, Supernumerary ni...	ORPHA:1001
Contractural Arachnodactyly, Congenital	Hip contracture, Ventricular septal defect, Bicuspid aortic valve, Micrognathia, Patent ductus ar...	OMIM:121050
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Ventricular septal defect, Dental crowding, Cleft upper lip, Patent d...	OMIM:612582
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Ventricular septal defect, Renal hypoplasia/aplasia, Micrognathia, Abnormal renal morp...	ORPHA:363700
Mycophenolate Mofetil Embryopathy	Ventricular septal defect, Congenital diaphragmatic hernia, Ectopic kidney, Micrognathia, Tracheo...	ORPHA:268249
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Hydroureter, Aganglionic megacolon, Camptodactyly of finger, Abnormal dental enamel morphology, A...	ORPHA:2273
Histiocytosis-Lymphadenopathy Plus Syndrome	Decreased response to growth hormone stimulation test, Cardiomegaly, Joint contracture of the 5th...	OMIM:602782
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Ventricular septal defect, Exaggera...	OMIM:608670
Early Infantile Epileptic Encephalopathy	Ventricular septal defect, Precocious puberty, Cleft palate, Ureterocele, Short finger, Micropeni...	ORPHA:1934
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Restrictive ventilatory def...	ORPHA:538
Intellectual Developmental Disorder, X-Linked 12	Abnormal cerebral white matter morphology, Abnormality of neuronal migration, Microcephaly	OMIM:300957
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Hypospadias, Intestinal malrotation, Hypoplasia of the premaxilla, Renal hyp...	ORPHA:2166
Tangier Disease	Accelerated atherosclerosis, Carotid artery stenosis, Hepatosplenomegaly, Facial diplegia, Left v...	ORPHA:31150
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Sotos Syndrome	Mandibular prognathia, Ventricular septal defect, Abnormality of the kidney, High, narrow palate,...	OMIM:117550
Mucolipidosis Type Ii	Hip contracture, Abnormal mitral valve morphology, Diastasis recti, Splenomegaly, Gingival overgr...	ORPHA:576
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Renal cyst, Anteriorly placed anus, Short philtrum, Hig...	ORPHA:798
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:618321
45,X/46,Xy Mixed Gonadal Dysgenesis	Bifid scrotum, Bicuspid aortic valve, Micrognathia, Bilateral cryptorchidism, Epispadias, Ambiguo...	ORPHA:1772
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Holoprosencephaly, Abnormality of neuronal migration, Microcephaly	ORPHA:261236
Gabriele-De Vries Syndrome	Distal lower limb amyotrophy, Abnormality of upper lip vermillion, Facial hypotonia, Decreased re...	ORPHA:506358
Craniofaciofrontodigital Syndrome	Prominent superficial veins, Anomalous branches of internal carotid artery, Bicuspid aortic valve...	ORPHA:363705
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Ventricular septal defect, Dental crowding, Persistence of primary teeth, Hiatus hernia, Patent d...	OMIM:619769
Focal Dermal Hypoplasia	Ureteral duplication, Congenital diaphragmatic hernia, Short metatarsal, Anteriorly placed anus, ...	OMIM:305600
Nijmegen Breakage Syndrome	Anal stenosis, Recurrent urinary tract infections, Sinusitis, Rhabdomyosarcoma, Cleft upper lip, ...	OMIM:251260
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Patent ductus arteriosus, Ventricular septal defect, Peripheral arterial stenosis	OMIM:126320
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Ventricular septal defect, Cryptorchidism, Aortic root aneurysm, Short philtrum, Camptodactyly, A...	OMIM:301039
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Microcephaly	OMIM:617008
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Cystic Echinococcosis	Hepatomegaly, Abnormality of the testis size, Renal cyst, Abnormal heart morphology, Ovarian cyst...	ORPHA:400
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Anal stenosis, Multicystic kidney dysplasia, Ventricu...	OMIM:606170
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Ventricular septal defect, Abnormal dental enamel morphology, Supernum...	ORPHA:1071
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Micrognathia, Biliary hyperplasia, Pyloric stenosis, Contracture of the distal inte...	ORPHA:83617
X-Linked Dominant Chondrodysplasia Punctata	Flexion contracture, High palate, Hydronephrosis, Hypoplastic cervical vertebrae	ORPHA:35173
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
Epidermodysplasia Verruciformis	Verrucae, Squamous cell carcinoma	ORPHA:302
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Multicystic kidney dysplasia, Ambiguous genitalia, Vaginal neoplasm, Rhabdo...	ORPHA:1052
Tetrasomy 18P	Abnormality of neuronal migration, Microcephaly	ORPHA:3307
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Nephrogenic rest, ...	OMIM:267000
Coffin-Siris Syndrome 7	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Thick lower lip vermi...	OMIM:618027
Alg1-Cdg	Respiratory failure	ORPHA:79327
Skin Creases, Congenital Symmetric Circumferential, 2	Short palm, Thin upper lip vermilion, Small scrotum, Hypospadias, Micrognathia, Carious teeth, Cr...	OMIM:616734
Radio-Tartaglia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Dental crowding, Micrognathia, Precocious pu...	OMIM:619312
Netherton Syndrome	Aminoaciduria, Ectopic kidney, Hydronephrosis, Malabsorption	ORPHA:634
Dubowitz Syndrome	Delayed eruption of teeth, Aplasia/Hypoplasia of the thumb, Anal stenosis, Hypoparathyroidism, Hy...	ORPHA:235
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Thin upper lip vermilion, Intestinal malrotation, Diastasis recti, Hiatus hern...	OMIM:601776
Cerebrofacioarticular Syndrome	Microcephaly, Dysplastic corpus callosum, Gray matter heterotopia, Hypoplasia of the corpus callo...	ORPHA:314679
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko...	OMIM:614924
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Respiratory failure	ORPHA:1194
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Overriding aorta, Ventricular septal defect, Hypospadias, Congenital diaphr...	OMIM:309801
Hypocomplementemic Urticarial Vasculitis	Dyspnea, Emphysema, Restrictive ventilatory defect, Cough, Pleural effusion, Airway obstruction	ORPHA:36412
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Dysphagia, Death in childhood	OMIM:619847
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Micrognathia, Precocious puberty, Cryptorc...	ORPHA:96191
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Ketonuria, Bicuspid aortic valve, Mitral atresia, Hypospadias, Micrognathia, Aortic valve atresia...	OMIM:220111
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Ventricular septal defect, Secundum atrial septal defect, Patent ductus arteri...	OMIM:619909
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Vesicoureteral reflux, Atrial ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Vesicoureteral reflux, Atrial ...	ORPHA:353277
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Thin upper lip vermilion, Ventricular septal defect, Limb joint contracture, Cryptorchidism, High...	ORPHA:505237
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Missing ribs, Absent external genitalia, Urethral atresia, Aplasia of the vagina, Short ribs, Apl...	OMIM:271520
Ogden Syndrome	Microretrognathia, Everted upper lip vermilion, Torticollis, Ventricular septal defect, High, nar...	ORPHA:276432
Exstrophy-Epispadias Complex	Bifid scrotum, Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicouretera...	ORPHA:322
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Abnormal fear-induced behavior, Depression, Agitation, Difficulty walking	ORPHA:100924
Pagod Syndrome	Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Situs in...	ORPHA:991
Renpenning Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Macrodontia, Hypospad...	OMIM:309500
Arboleda-Tham Syndrome	Mandibular prognathia, Secundum atrial septal defect, Bilateral cryptorchidism, Downturned corner...	OMIM:616268
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Orofaciodigital Syndrome Xiv	Microretrognathia, Natal tooth, Ventricular septal defect, Hamartoma of tongue, Micrognathia, Cle...	OMIM:615948
Campomelic Dysplasia	Irregular dentition, Micrognathia, Patellar hypoplasia, Sex reversal, Shortening of all phalanges...	OMIM:114290
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Restlessness, Death in childhood	OMIM:617186
Chromosome 14Q11-Q22 Deletion Syndrome	Ventricular septal defect, Anterior pituitary hypoplasia, Unilateral cryptorchidism, Micrognathia...	OMIM:613457
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebral calcification, Microcephaly, Leukoencephalopathy, Gray matter he...	OMIM:620024
Pyruvate Dehydrogenase E1-Alpha Deficiency	Limb undergrowth, Flexion contracture, Ventricular septal defect, Abnormal medullary pyramid morp...	ORPHA:79243
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Hereditary Orotic Aciduria	Orotic acid crystalluria, Splenomegaly, Patent ductus arteriosus, Abnormality of the ureter, Amin...	ORPHA:30
Distal Deletion 19P	Vaginal hernia, Ventricular septal defect, Hypoplasia of the maxilla, Cleft palate, Short philtru...	ORPHA:96129
Kawasaki Disease	Glossitis, Pericarditis, Abnormal heart valve morphology, Proteinuria, Myocarditis, Vasculitis, C...	ORPHA:2331
Costello Syndrome	Ventricular septal defect, Abnormal dental enamel morphology, Abnormality of the dentition, Crypt...	ORPHA:3071
Warsaw Breakage Syndrome	Wide mouth, High palate, Tetralogy of Fallot, Ventricular septal defect	OMIM:613398
Hypoplastic Left Heart Syndrome 2	Aortic valve atresia, Hypoplastic left heart, Ventricular septal defect, Mitral atresia	OMIM:614435
Lacrimoauriculodentodigital Syndrome	Micrognathia, Xerostomia, Orofacial cleft, Vesicoureteral reflux, Microdontia, Abnormal salivary ...	ORPHA:2363
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Beck-Fahrner Syndrome	Ventricular septal defect, Facial hypotonia, Cardiomegaly, High palate, Long philtrum, Open mouth	OMIM:618798
Criss-Cross Heart	Ventricular septal defect, Tricuspid stenosis, Transposition of the great arteries, Pulmonic sten...	ORPHA:1461
Meier-Gorlin Syndrome 7	Urethral stricture, Anal stenosis, Clitoral hypertrophy, Ventricular septal defect, Hypospadias, ...	OMIM:617063
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Short palm, Atrioventricular canal de...	ORPHA:508498
Restrictive Dermopathy 1	Natal tooth, Ureteral duplication, Limb joint contracture, Hypospadias, Micrognathia, Patent duct...	OMIM:275210
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Abnormality of the kidney, Supernumerary nipple, Cleft upper lip, Conical...	OMIM:263750
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Periventricular heterotopia, Hydrocephalus, Hyperintensity of cerebral wh...	OMIM:618476
Thanatophoric Dysplasia Type 2	Encephalocele, Hydrocephalus, Holoprosencephaly, Abnormality of neuronal migration	ORPHA:93274
Trisomy 10P	Absent gallbladder, Decreased muscle mass, Abnormality of the kidney, Micrognathia, Short toe, Or...	ORPHA:171929
Mandibulofacial Dysostosis, Guion-Almeida Type	Ventricular septal defect, Micrognathia, Esophageal atresia, Deep philtrum, Cleft palate, Atrial ...	OMIM:610536
Noonan Syndrome 2	Abnormal coronary artery origin, Mitral stenosis, Ventricular septal defect, Micrognathia, Crypto...	OMIM:605275
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Right ventricular dilatation, Left ventricular hypertrophy, Pulmonary ar...	ORPHA:99106
Hyperparathyroidism-Jaw Tumor Syndrome	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulcer, Testicular neoplas...	ORPHA:99880
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Stroke, Ventricular septal defect	ORPHA:49827
Congenital Disorder Of Glycosylation, Type Ia	Thin upper lip vermilion, Pericarditis, Villous atrophy, Hepatomegaly, Proteinuria, Hypergonadotr...	OMIM:212065
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Microretrognathia, Scapular winging, Ventricular septal defect, Micromelia, Patent ductus arterio...	OMIM:618870
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Bicuspid aortic valve, Intestinal malrotation, Congenital diaphragmatic hern...	ORPHA:2847
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Absent septum pellucidum, Cortical dysplasi...	OMIM:615287
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Adrenal hyperplasia, Ventricular septal defect, Nephrolithiasis, Intracr...	ORPHA:369929
1P36 Deletion Syndrome	Hypoplasia of penis, Renal cyst, Abnormality of the anus, Hypospadias, Abnormality of the kidney,...	ORPHA:1606
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Joubert Syndrome	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus...	ORPHA:475
Beckwith-Wiedemann Syndrome	Hepatomegaly, Overgrowth of external genitalia, Diastasis recti, Cardiomegaly, Cryptorchidism, Pa...	OMIM:130650
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Short palm, Hypoplasia of penis, Urethrovaginal fistula, Cleft upper lip, Micromelia, Esophageal ...	ORPHA:93271
Donnai-Barrow Syndrome	Ventricular septal defect, Intestinal malrotation, Congenital diaphragmatic hernia, Proteinuria, ...	OMIM:222448
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Glossoptosis, Multicystic kidney dysplasia, Renal cyst	ORPHA:2031
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	High palate, Lower limb hypertonia, Ventricular septal defect, Dextrotransposition of the great a...	OMIM:619995
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Micrognathia, Patent ductus arteriosus, Arterial stenosis, Orofacia...	ORPHA:1556
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Macrogyria, Abnormality of neuronal migra...	ORPHA:2211
Parathyroid Carcinoma	Renal insufficiency, Pancreatic adenocarcinoma, Renal hamartoma, Peptic ulcer, Testicular neoplas...	ORPHA:143
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Respiratory fa...	ORPHA:125
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy, Chapped lip, Anal fissure, Perianal dermatitis	ORPHA:294023
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, High palate, Transposition of ...	OMIM:617982
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Ventricular septal defect, Bilateral cryptorchidism, Patent ductus arteriosus, High palate, Retro...	OMIM:300472
Alzahrani-Kuwahara Syndrome	Ventricular septal defect, Hypospadias, Coronary sinus enlargement, Micrognathia, Pulmonary arter...	OMIM:619268
Lymphedema-Distichiasis Syndrome	Ventricular septal defect, Micrognathia, Cleft upper lip, Patent ductus arteriosus, Cleft palate,...	OMIM:153400
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype...	OMIM:616482
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Anterior pituitary hypoplasia, Aplasia of the 3rd met...	OMIM:181450
Orotic Aciduria	Orotic acid crystalluria, Ventricular septal defect, Hematuria, Atrial septal defect, Oroticaciduria	OMIM:258900
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Ventricular septal defect, Dental crowding, Micrognathia, High, narrow...	ORPHA:2789
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Micrognathia, Cryptorchidism, Dilated cardiomyopathy, Wide mouth, High...	ORPHA:261250
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Desbuquois Syndrome	Aplasia/Hypoplasia of the abdominal wall musculature, Ventricular septal defect, Camptodactyly of...	ORPHA:1425
Loeys-Dietz Syndrome 5	Decreased muscle mass, Tented upper lip vermilion, Ventricular septal defect, Cleft soft palate, ...	OMIM:615582
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Ventricular septal defect, Patent ductus arteriosus, High palate, Thick vermilion border, Short s...	OMIM:620113
Acromelic Frontonasal Dysostosis	Tubulonodular pericallosal lipoma, Encephalocele, Gray matter heterotopia, Hypoplasia of the corp...	OMIM:603671
Dysosteosclerosis	Delayed eruption of teeth, Craniofacial hyperostosis, Ventricular septal defect, Abnormal dental ...	ORPHA:1782
Cooper-Jabs Syndrome	Ventricular septal defect, Camptodactyly of finger, Congenital diaphragmatic hernia, Missing ribs...	ORPHA:1488
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Renal cyst	OMIM:614862
Heart And Brain Malformation Syndrome	Ventricular septal defect, Camptodactyly of finger, High, narrow palate, Cleft lip, Thick lower l...	OMIM:616920
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Patent ductus arteriosus, Overriding aorta, Ventricular septal defect	OMIM:617021
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Catel-Manzke Syndrome	Short humerus, Short metacarpal, Overriding aorta, Ventricular septal defect, Dextrocardia, Short...	OMIM:616145
Distal 22Q11.2 Microduplication Syndrome	Mandibular prognathia, Ventricular septal defect, Camptodactyly of finger, Unilateral renal agene...	ORPHA:261337
Mesomelia-Synostoses Syndrome	Microretrognathia, Micromelia, Micrognathia, Short metatarsal, Short foot, Mesomelia, Hydronephro...	OMIM:600383
Congenital Tracheal Stenosis	Ventricular septal defect, Abnormality of the kidney, Abnormal stomach morphology, Ascending aort...	ORPHA:141127
Orofaciodigital Syndrome Type 2	Micrognathia, Central retinal vessel vascular tortuosity, High palate, Short tibia, Atrioventricu...	ORPHA:2751
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
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, Cl...	ORPHA:2554
Diamond-Blackfan Anemia 1	11 pairs of ribs, Ventricular septal defect, Tricuspid stenosis, Cleft upper lip, Micrognathia, S...	OMIM:105650
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Small hand, Cleft ...	ORPHA:85276
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Aplasia/Hypoplasia of the scapulae, Cardiomegaly, Mi...	ORPHA:3472
Tuberous Sclerosis 2	Absence of renal corticomedullary differentiation, Precocious puberty, Gingival fibromatosis, Ren...	OMIM:613254
Right Pulmonary Artery, Anomalous Origin Of, Familial	Ventricular septal defect, Patent ductus arteriosus, Coarctation of aorta, Patent foramen ovale, ...	OMIM:610338
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai...	OMIM:613658
Cohen Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the tongue, Macrodontia, Abnormality of the dent...	ORPHA:193
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Periventricular heterotopia, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus...	OMIM:614105
Autosomal Recessive Spastic Paraplegia Type 20	Skeletal muscle atrophy, Dysuria, Upper limb muscle weakness, Distal amyotrophy, Increased overbi...	ORPHA:101000
Common Variable Immunodeficiency	Recurrent respiratory infections, Pneumonia, Bronchiectasis, Restrictive ventilatory defect, Emph...	ORPHA:1572
Neurocutaneous Melanocytosis	Death in infancy, Meningocele, Abnormality of neuronal migration	ORPHA:2481
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Megacystis, Hydronephrosis, Urinary retenti...	OMIM:155310
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Hydronephrosis, Esophagitis, Hepatosplenomegaly	ORPHA:541423
Holt-Oram Syndrome	Hypoplasia of the ulna, Short humerus, Ventricular septal defect, Aplasia of the ulna, Secundum a...	OMIM:142900
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Granulomatosis With Polyangiitis	Glomerulopathy, Pericarditis, Ureteral stenosis, Intestinal obstruction, Renal insufficiency, Pro...	ORPHA:900
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia, Hydrocephalus, Temporal lobe dysplasia	OMIM:187600
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Congenital muscular torticollis, Ventricular septal defect, Bicuspid ao...	ORPHA:457279
Congenital Rubella Syndrome	Hepatomegaly, Ventricular septal defect, Splenomegaly, Patent ductus arteriosus, Atrial septal de...	ORPHA:290
Nephronophthisis 4	Polyuria, Stage 5 chronic kidney disease, Renal corticomedullary cysts, Nephronophthisis, Renal t...	OMIM:606966
Primary Hyperoxaluria Type 2	Hyperoxaluria, Renal insufficiency, Recurrent urinary tract infections, Nephrolithiasis, Nephroca...	ORPHA:93599
Goldberg-Shprintzen Syndrome	Ventricular septal defect, Aganglionic megacolon, Hypoplasia of the maxilla, Small hand, Oligodon...	OMIM:609460
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Uterine prolapse, Bicuspid aortic valve, Ventricular septal defect, Precocious puberty, Cryptorch...	ORPHA:438213
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Rectal prolapse, Abnormality of the ureter, Multiple gastric polyps, Or...	OMIM:175200
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome	Hypoplasia of the premaxilla, Fused labia minora, Micrognathia, Ambiguous genitalia, female, Abno...	ORPHA:2975
D-Bifunctional Protein Deficiency	Hepatomegaly, Decreased muscle mass, Micrognathia, Splenomegaly, Renal cyst, High palate, Bile du...	OMIM:261515
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Renal cyst, Cleft palate, Polycystic ovari...	ORPHA:137675
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Pleur...	ORPHA:340
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Dysphagia	ORPHA:319213
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618569
Distal 22Q11.2 Microdeletion Syndrome	Short palm, Thin upper lip vermilion, Recurrent urinary tract infections, Ventricular septal defe...	ORPHA:261330
Niemann-Pick Disease Type C	Aggressive behavior, Abnormal lung morphology, Respiratory insufficiency, Dysphagia, Respiratory ...	ORPHA:646
Knobloch Syndrome	Dextrocardia, Pyloric stenosis, Patent ductus arteriosus, Vesicoureteral reflux, Bifid ureter	ORPHA:1571
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus...	ORPHA:2318
C Syndrome	Multicystic kidney dysplasia, Accessory oral frenulum, Congenital diaphragmatic hernia, Renal hyp...	ORPHA:1308
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Absent gallbladder, Esophageal diverticulum, Hamartoma of tongue, Micrognathia, Comp...	OMIM:617925
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Seco...	OMIM:618820
Fanconi Anemia, Complementation Group N	Short thumb, Nephroblastoma, Ventricular septal defect	OMIM:610832
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat...	ORPHA:544488
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Renal cyst, Steatorrhea, Fat malabsorption	ORPHA:79303
Coffin-Siris Syndrome 4	Thin upper lip vermilion, Everted upper lip vermilion, Ventricular septal defect, Mitral atresia,...	OMIM:614609
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Fanconi Anemia, Complementation Group C	Duplicated collecting system, Ventricular septal defect, Renal agenesis, Hypergonadotropic hypogo...	OMIM:227645
Attenuated Familial Adenomatous Polyposis	Duodenal polyposis, Neoplasm of the stomach, Rectal polyposis, Adenomatous colonic polyposis, Ute...	ORPHA:220460
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Emphysema	OMIM:219100
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Pulmonary artery stenosis, Cardiorespiratory arrest, Respiratory f...	ORPHA:3342
Erdheim-Chester Disease	Renal insufficiency, Hypogonadotropic hypogonadism, Dysuria, Abnormal pericardium morphology, Abn...	ORPHA:35687
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Microcephaly, Periventricular heterotopia, Cortical dysplasia, Simplified gyral pattern, Cerebral...	ORPHA:468631
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Overriding aorta, Median cleft lip, Abse...	ORPHA:3186
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Mowat-Wilson Syndrome	Mandibular prognathia, Bifid scrotum, Bicuspid aortic valve, Dental crowding, Urinary incontinenc...	ORPHA:2152
Occipital Horn Syndrome	Short humerus, Ureteral obstruction, Hiatus hernia, Bladder diverticulum, High palate, Short clav...	OMIM:304150
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Ventricular septal defect, Macrodontia, Protruding tongue, Diastema, Gingi...	OMIM:212066
Sarcoidosis, Susceptibility To, 1	Anorexia, Dyspnea, Emphysema, Bronchiectasis, Abnormal pulmonary interstitial morphology, Hypoxem...	OMIM:181000
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Sandestig-Stefanova Syndrome	Respiratory failure	OMIM:618804
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect	OMIM:619908
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea, Dysphagia	OMIM:617301
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Bifid scrotum, Bicuspid aortic valve, Dental crowding, Urinary incontinenc...	ORPHA:261537
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Ventricular septal defect, Supernumerary nipple, Micrognathia, Cryptorc...	OMIM:613884
Neurocardiofaciodigital Syndrome	Patent ductus arteriosus, Vesicoureteral reflux, Retrognathia, Double inlet left ventricle, Thin ...	OMIM:619869
Coffin-Siris Syndrome	Delayed eruption of teeth, Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Cryp...	ORPHA:1465
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Microcephaly, Periventricular heterotopia, Hydrocephalus, Colpocephaly, Periventricular leukomala...	OMIM:619833
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Neu-Laxova Syndrome	Cerebral calcification, Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Spina...	ORPHA:2671
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Respiratory ar...	OMIM:617248
Gm1 Gangliosidosis	Mandibular prognathia, Ventricular septal defect, Camptodactyly of finger, Splenomegaly, Patent d...	ORPHA:354
X Small Rings	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Fetal pyelectasis, Up...	ORPHA:96201
Poliomyelitis	Respiratory failure requiring assisted ventilation, Anorexia, Respiratory failure, Agitation, Dys...	ORPHA:2912
Xeroderma Pigmentosum, Variant Type	Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma	OMIM:278750
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration, Cerebral cortical atrophy, Microcephaly	ORPHA:2518
Ichthyosis, Hystrix-Like, With Deafness	Squamous cell carcinoma	OMIM:602540
Galloway-Mowat Syndrome	Aqueductal stenosis, Pachygyria, Abnormality of neuronal migration, Microcephaly	ORPHA:2065
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Respir...	ORPHA:647
Neurooculorenal Syndrome	Hypoplasia of the bladder, Ectopic posterior pituitary, Dextrocardia, Intestinal malrotation, Uni...	OMIM:620305
Lethal Omphalocele-Cleft Palate Syndrome	Cleft soft palate, Bifid uterus, Cleft palate, Unilateral cleft lip, Retrognathia, Bifid uvula	ORPHA:2736
Sotos Syndrome	Ureteral duplication, No permanent dentition, Flexion contracture, Vesicoureteral reflux, Atrial ...	ORPHA:821
Culler-Jones Syndrome	Ectopic posterior pituitary, Hypopituitarism, Anterior pituitary hypoplasia, Cleft upper lip, Cry...	OMIM:615849
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Gray matter heterotopia, Lateral ventricle dilatation, Poly...	OMIM:617397
Diamond-Blackfan Anemia	Radial artery aplasia, Ventricular septal defect, Cleft soft palate, Hypospadias, Renal agenesis,...	ORPHA:124
Townes-Brocks Syndrome	Bifid scrotum, Hypoplasia of penis, Ectopic kidney, Anteriorly placed anus, Abnormality of the ut...	ORPHA:857
Alg11-Cdg	Cerebral white matter atrophy, Microcephaly, Cerebral atrophy, Gray matter heterotopia, Abnormal ...	ORPHA:280071
Filippi Syndrome	Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Thin vermilion border, Short phi...	ORPHA:3255
Cntnap2-Related Developmental And Epileptic Encephalopathy	Periventricular leukomalacia, Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Bifid scrotum, Bicuspid aortic valve, Dental crowding, Urinary incontinenc...	ORPHA:261552
Keutel Syndrome	Pulmonary artery stenosis, Ventricular septal defect, Recurrent sinusitis, Short distal phalanx o...	ORPHA:85202
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin upper lip vermilion, Short lingual frenulum, Ventricular septal defect, Downturned corners o...	OMIM:617360
Cutis Laxa, Autosomal Dominant 1	Dyspnea, Emphysema, Bronchiectasis, Peripheral pulmonary artery stenosis	OMIM:123700
Leopard Syndrome 1	Mandibular prognathia, Scapular winging, Hypospadias, Unilateral renal agenesis, Missing ribs, Co...	OMIM:151100
Loeys-Dietz Syndrome 1	Bicuspid aortic valve, Eosinophilic infiltration of the esophagus, Micrognathia, Arterial tortuos...	OMIM:609192
Craniofacial Microsomia 1	Multicystic kidney dysplasia, Ventricular septal defect, Hypoplasia of facial musculature, Renal ...	OMIM:164210
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi...	ORPHA:534
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618929
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Thyroid hypoplasia, Ventricular septal defect, Camptodactyly of finger, Micro...	ORPHA:3047
Spondylo-Ocular Syndrome	Facial hypotonia, Thin vermilion border, Ventricular septal defect, Long philtrum	ORPHA:85194
Trichohepatoenteric Syndrome 1	Hepatomegaly, Villous atrophy, Ventricular septal defect, Hypospadias, Splenomegaly, Wide mouth, ...	OMIM:222470
Tetraamelia Syndrome 1	Renal agenesis, Hypoplasia of the fallopian tube, Congenital diaphragmatic hernia, Cleft upper li...	OMIM:273395
Oculodentodigital Dysplasia	Mandibular prognathia, Neurogenic bladder, Median cleft lip, Ventricular septal defect, Abnormal ...	ORPHA:2710
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
3Q29 Microduplication Syndrome	Ventricular septal defect, Abnormality of the dentition, Deep philtrum, Cleft palate, Ectopic anu...	ORPHA:251038
Zttk Syndrome	Absent gallbladder, Ventricular septal defect, Polyuria, Unilateral renal agenesis, Abnormality o...	OMIM:617140
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Mosaic Variegated Aneuploidy Syndrome 2	Ventricular septal defect, Rhizomelia, Decreased response to growth hormone stimulation test, Mic...	OMIM:614114
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Micromelia, Hypoplasia of the small intesti...	OMIM:200995
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Clitoral hypertrophy, Ventricular septal defect, Intestinal malrotation...	OMIM:244450
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Pleural effusion, Recurrent pneumonia, Cough	OMIM:306400
Alagille Syndrome 1	Duplicated collecting system, Hypoplasia of the ulna, Ventricular septal defect, Multiple small m...	OMIM:118450
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Renal insufficiency, Proteinuria, Pancreatic fibrosis, Pancreatic cysts, ...	OMIM:208500
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Thin upper lip vermilion, Abnormality of the dentition, Cyst of the ductus choledochus, Patent du...	ORPHA:480880
Intellectual Developmental Disorder, Autosomal Dominant 66	Secundum atrial septal defect, Aortic root aneurysm, Transposition of the great arteries, Cerebra...	OMIM:619910
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Ureterocele	OMIM:614863
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Neurogenic bladder, Tented upper lip vermilion, V...	ORPHA:488632
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Short thumb, Hypoplastic aortic arch, Coarcta...	ORPHA:2876
Jacobsen Syndrome	Ventricular septal defect, Hypospadias, Micrognathia, Missing ribs, Pyloric stenosis, Cryptorchid...	OMIM:147791
Chondrodysplasia Punctata 2, X-Linked Dominant	Malar flattening, Rhizomelia, Hydronephrosis, Hemiatrophy	OMIM:302960
Intellectual Developmental Disorder, Autosomal Dominant 42	Neurogenic bladder, Cleft palate, High palate, Short philtrum, Ureteropelvic junction obstruction...	OMIM:616973
Joubert Syndrome 2	Renal insufficiency, Renal cyst, High palate, Nephronophthisis, Hypoplastic male external genitalia	OMIM:608091
Thanatophoric Dysplasia	Gray matter heterotopia, Hydrocephalus	ORPHA:2655
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Pericardial effusion, Splenomegaly, Pancreatic cysts, Hepatosplenomegaly, Ab...	ORPHA:464329
Aicardi Syndrome	Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang...	OMIM:304050
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
2Q31.1 Microdeletion Syndrome	Short palm, Ventricular septal defect, Camptodactyly of finger, Micrognathia, Cryptorchidism, Dee...	ORPHA:251014
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Feingold Syndrome 1	Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Micrognathia, Esophageal atresia,...	OMIM:164280
Phace Association	Anomalous branches of internal carotid artery, Ventricular septal defect, Patent ductus arteriosu...	OMIM:606519
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Hydrocephalus, Lissencephaly, Aplasia/Hypoplasia of the corpus callosum	OMIM:617822
Wiedemann-Rautenstrauch Syndrome	Decreased response to growth hormone stimulation test, Congenital malformation of the left heart,...	ORPHA:3455
Orofaciodigital Syndrome Type 14	Microretrognathia, Ventricular septal defect, Accessory oral frenulum, Hamartoma of tongue, Bilat...	ORPHA:434179
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micromelia, Micrognathia, Downturned corner...	ORPHA:199
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micromelia, Micrognathia, High palate, Wrist flexion contracture, Pursed...	ORPHA:800
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Intestinal obstruction, Ventricular septal defect, Intestinal malrotation, Ileal atresia, Jejunal...	OMIM:243150
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Thin upper lip vermilion, Peripheral pulmonary artery stenosis, Ventricular septal defect, Crypto...	OMIM:617506
Ileal Neuroendocrine Tumor	Hydronephrosis, Intestinal fistula, Tricuspid stenosis, Pulmonic stenosis	ORPHA:100078
Robin Sequence With Cleft Mandible And Limb Anomalies	Micrognathia, Aplasia of the epiglottis, High palate, Short tibia, Bifid uvula, Microretrognathia...	OMIM:268305
Esophageal Atresia	Barrett esophagus, Ventricular septal defect, Intestinal malrotation, Renal agenesis, Abnormal ex...	ORPHA:1199
Liver Disease, Severe Congenital	Chronic gastritis, Cardiomegaly, Micrognathia, Biliary hyperplasia, Aminoaciduria, Protein-losing...	OMIM:619991
Townes-Brocks Syndrome 1	Bifid scrotum, Short metatarsal, Vesicoureteral reflux, Atrial septal defect, Multicystic kidney ...	OMIM:107480
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Vascular ring, Knee flexion contracture, Atri...	OMIM:603387
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Johanson-Blizzard Syndrome	Anteriorly placed anus, Downturned corners of mouth, Atrial septal defect, Hypoplasia of the prim...	OMIM:243800
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Hypogonadotropic hypogonadism, Esophageal atresia, Pulmonary artery st...	OMIM:301030
Otopalatodigital Syndrome, Type Ii	Short metacarpal, Hypospadias, Elbow contracture, Short hallux, Micrognathia, Short thumb, Crypto...	OMIM:304120
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Decreased response to growth ho...	ORPHA:444077
Listeriosis	Respiratory distress, Respiratory failure, Miscarriage, Pneumonia	ORPHA:533
Alveolar Echinococcosis	Abnormal pericardium morphology, Pancreatic cysts, Abnormal bladder morphology, Renal cyst, Abnor...	ORPHA:284
Pontocerebellar Hypoplasia, Type 8	Arthrogryposis multiplex congenita, Ventricular septal defect, Tented upper lip vermilion, Patent...	OMIM:614961
Den Hoed-De Boer-Voisin Syndrome	Delayed eruption of teeth, Lactose intolerance, Recurrent urinary tract infections, Ventricular s...	OMIM:619229
Neuromuscular Oculoauditory Syndrome	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618733
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Small scrotum, Ventricular septal defect, Hydron...	OMIM:620330
Adams-Oliver Syndrome 1	Bicuspid aortic valve, Ventricular septal defect, Supernumerary nipple, Cleft upper lip, Pulmonar...	OMIM:100300
Myopathy With Extrapyramidal Signs	Hepatomegaly, Tented upper lip vermilion, Ventricular septal defect, Splenomegaly, Calf muscle hy...	OMIM:615673
Pallister-Hall Syndrome	Small scrotum, Ectopic kidney, Gonadotropin deficiency, Atrial septal defect, Micropenis, Atriove...	ORPHA:672
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Thin upper lip vermilion, Microretrognathia, Ventricular septal defect, Hy...	ORPHA:459070
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ...	OMIM:619534
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Peptic ulcer, Parathormone-independent increased renal tubular calcium reabs...	OMIM:600740
Degcags Syndrome	Micrognathia, Bilateral renal hypoplasia, High palate, Atrial septal defect, Diaphragmatic eventr...	OMIM:619488
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Hypoplasia of the corpus callosum, Cerebral atrophy	OMIM:618797
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Micromelia, Bilateral renal hypoplasia, Cleft maxillary alveolar rid...	ORPHA:508488
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv...	ORPHA:536467
Holoprosencephaly	Hypoplasia of penis, Median cleft lip, Ventricular septal defect, Abnormal pulmonary valve morpho...	ORPHA:2162
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Myhre Syndrome	Mandibular prognathia, Thin upper lip vermilion, Ventricular septal defect, Pericardial effusion,...	OMIM:139210
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:610505
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Distal Renal Tubular Acidosis	Hyperphosphaturia, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephrocalcinosis,...	ORPHA:18
Microphthalmia, Syndromic 3	Ventricular septal defect, Hypospadias, Anterior pituitary hypoplasia, Missing ribs, Hypogonadotr...	OMIM:206900
Diets-Jongmans Syndrome	Thin upper lip vermilion, Ventricular septal defect, Hypospadias, Congenital diaphragmatic hernia...	OMIM:618846
Cerebellofaciodental Syndrome	Ventricular septal defect, Cryptorchidism, Dental malocclusion, Shortening of all distal phalange...	OMIM:616202
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Micrognathia, Cryptorchidism, Hypoplastic labia minora, Tented philtrum, Absence of ...	ORPHA:495875
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Rectoperineal fistula, Ventricular septal defect, Cryptorchidism, Coarctation of aorta, Anteriorl...	OMIM:618748
Weill-Marchesani Syndrome 1	Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, Tooth malposition...	OMIM:277600
Coffin-Lowry Syndrome	Death in early adulthood, Microcephaly, Abnormality of neuronal migration, Aplasia/Hypoplasia of ...	ORPHA:192
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Micromelia, Hypoplastic pulmonary veins, Absent pulmonary artery, Dentinogenesis impe...	OMIM:610682
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Dysphagia	ORPHA:506
Mody	Abnormality of the kidney, Renal cyst, Glycosuria, Nephropathy, Pancreatic hypoplasia	ORPHA:552
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Decreased response to growth hormone stimulation test, Premature thelarche, Widely spaced teeth, ...	ORPHA:268261
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodgkin lymphoma, ...	OMIM:305000
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Hypoplasia of th...	OMIM:601390
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Hydronephrosis	OMIM:617093
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Ventricular septal defect, Hypoplasia of teeth	OMIM:234050
Chromosome 16P13.3 Duplication Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Ventricular septal defect, Facial hypotonia...	OMIM:613458
Spondylocarpotarsal Synostosis Syndrome	Scapular winging, Short metacarpal, Hypoplasia of the odontoid process, Renal cyst, Cleft palate,...	OMIM:272460
Joubert Syndrome 1	Protruding tongue, Renal cyst, Macroglossia, Triangular-shaped open mouth, Nephropathy	OMIM:213300
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst	OMIM:601539
Diaphragmatic Hernia 4, With Cardiovascular Defects	11 pairs of ribs, Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Mi...	OMIM:620025
Miller-Dieker Lissencephaly Syndrome	Microcephaly, Gray matter heterotopia, Lissencephaly, Hypoplasia of the corpus callosum, Cavum se...	OMIM:247200
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Noonan Syndrome 1	Ventricular septal defect, Hypospadias, Micrognathia, High, narrow palate, Cryptorchidism, Patent...	OMIM:163950
Fraser Syndrome	Hypoplasia of penis, Small scrotum, Dental crowding, Orofacial cleft, Urethral atresia, High pala...	ORPHA:2052
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
De Barsy Syndrome	Delayed eruption of teeth, Decreased muscle mass, Ventricular septal defect, Narrow mouth, Crypto...	ORPHA:2962
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Splenomegaly, Orofacial cleft, N...	ORPHA:1454
Isolated Exencephaly	Agenesis of corpus callosum, Holoprosencephaly	ORPHA:563612
Neu-Laxova Syndrome 1	Ventricular septal defect, Renal agenesis, Micromelia, Cleft upper lip, Swollen lip, Micrognathia...	OMIM:256520
Weill-Marchesani Syndrome 2	Short metacarpal, Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus,...	OMIM:608328
Holoprosencephaly 9	Hypoplasia of the premaxilla, Decreased response to growth hormone stimulation test, Cleft upper ...	OMIM:610829
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Ventricular septal defect, Pericardial effusion, Cholelithiasis, Hypertrophic cardiomyopathy, Per...	OMIM:618775
Trichohepatoneurodevelopmental Syndrome	Hepatomegaly, Ventricular septal defect, Dental crowding, Splenomegaly, Patent ductus arteriosus,...	OMIM:618268
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Omodysplasia 1	Short humerus, Ventricular septal defect, Rhizomelia, Micrognathia, Cryptorchidism, Pulmonary art...	OMIM:258315
Relapsing Polychondritis	Dyspnea, Atelectasis, Abnormal pattern of respiration, Cough	ORPHA:728
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Papillary cystadenoma of the epididymis, Renal cell c...	OMIM:193300
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Keutel Syndrome	Sinusitis, Miscarriage, Recurrent bronchitis, Pulmonary artery hypoplasia, Emphysema, Chronic sin...	OMIM:245150
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of t...	ORPHA:99889
Marshall-Smith Syndrome	Irregular dentition, Bilateral cryptorchidism, Anteriorly placed anus, Glossoptosis, Short philtr...	OMIM:602535
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Renal insufficiency, Proteinuria, Decreased response to growth ...	ORPHA:699
Codas Syndrome	Delayed eruption of teeth, Short humerus, Short metacarpal, Ventricular septal defect, Hypoplasia...	OMIM:600373
Carpenter Syndrome 2	Bilateral cryptorchidism, High, narrow palate, Knee flexion contracture, High palate, Atrial sept...	OMIM:614976
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Abnormal cerebral white matter mo...	ORPHA:75857
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Ventricular septal defect, Diastasis recti, Abnormal heart morphology	ORPHA:254534
Mowat-Wilson Syndrome	Delayed eruption of teeth, Bifid scrotum, Ventricular septal defect, Aganglionic megacolon, Hypos...	OMIM:235730
Noonan Syndrome 3	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valve prolapse, High ...	OMIM:609942
Cardiospondylocarpofacial Syndrome	Ventricular septal defect, Congenital diaphragmatic hernia, Muscular ventricular septal defect, D...	OMIM:157800
Monosomy 22Q13.3	Renal dysplasia, Dental crowding, Dental malocclusion, Vesicoureteral reflux, Malar flattening, R...	ORPHA:48652
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure	ORPHA:3240
Williams-Beuren Syndrome	Bicuspid aortic valve, Rectal prolapse, Flexion contracture, Nephrocalcinosis, Vesicoureteral ref...	OMIM:194050
Brachytelephalangic Chondrodysplasia Punctata	Ventricular septal defect, Hypoplasia of the maxilla, Patent ductus arteriosus, Pulmonary artery ...	ORPHA:79345
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Stillbirth	OMIM:259720
Larsen Syndrome	Short metacarpal, Ventricular septal defect, Cleft upper lip, Cryptorchidism, Short metatarsal, C...	OMIM:150250
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Contracture of the proximal interphalangeal joint of the 3rd finger, Thin upper lip vermilion, Ve...	OMIM:301044
Pallister-Killian Syndrome	Tented upper lip vermilion, Small scrotum, Congenital diaphragmatic hernia, Micrognathia, Flexion...	OMIM:601803
Limb Body Wall Complex	Ventricular septal defect, Diastasis recti, Congenital diaphragmatic hernia, Abnormality of the k...	ORPHA:2369
Lenz-Majewski Hyperostotic Dwarfism	Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere...	OMIM:151050
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Aganglionic megacolon, Hypospadias, Epispadias, Abnormality of the ure...	ORPHA:3339
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Ambiguous genitalia, Pancreatic fibrosis, Ventricular septal defect, Short ribs	OMIM:615503
Costello Syndrome	Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency	OMIM:218040
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Hip contracture, Ventricular septal defect, Elbow contracture, Elbow flexion contracture, Cleft p...	OMIM:178110
Chromosome 1P36 Deletion Syndrome, Distal	Bicuspid aortic valve, Ectopic kidney, Orofacial cleft, High palate, Atrial septal defect, Patent...	OMIM:607872
Popliteal Pterygium Syndrome	Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cleft upper lip, Cryptorchidism, Lower li...	OMIM:119500
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Widely spaced teeth, High palate, Atr...	OMIM:612474
Knobloch Syndrome 1	Duplicated collecting system, Pyloric stenosis, Patent ductus arteriosus, Bifid ureter, Hydroneph...	OMIM:267750
Zygomycosis	Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Acute infectious pneumonia, Cough, Pleural effus...	ORPHA:73263
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Squamous cell carcinoma	OMIM:618373
Treacher Collins Syndrome 1	Cleft soft palate, Micrognathia, Cryptorchidism, Cleft palate, Abnormal heart morphology, Wide mo...	OMIM:154500
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Intestinal malrotation, Proteinuria, Hypoplastic philtrum, Hiatus hern...	OMIM:616682
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Exercise-induced rhabdomyolysis, Ventricular septal defect, Pericardial effusion, D...	ORPHA:26793
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Dilated cardiomyopathy, Flexion contracture, Myocardial fibrosis, Calf m...	OMIM:253800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:252010
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Miscarriage, Pulmonary artery stenosis, Restrictive ventilatory defect, Respiratory failure, Pulm...	ORPHA:96334
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Hydrocephalus	ORPHA:1860
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Thin upper lip vermilion, Exaggerated cupid's bow, Ventricular septal defect, Flexion contracture...	OMIM:619306
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Ventricular septal defect, Cryptorchidism, High palate, Pulmonic st...	OMIM:607721
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Emphysema, Unilateral lung agenesis, Respiratory failure, Dysphagia	ORPHA:500150
Wolf-Hirschhorn Syndrome	Decreased muscle mass, Ventricular septal defect, Hypospadias, Short hallux, Cleft upper lip, Mic...	OMIM:194190
Congenital Disorder Of Glycosylation, Type Iiw	Hepatomegaly, Membranoproliferative glomerulonephritis, Ventricular septal defect, Microscopic he...	OMIM:619525
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect	OMIM:618325
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Micrognathia, Abnormality of the gingiva,...	ORPHA:513456
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Recurrent pneumonia, Respiratory insufficiency, Emphysema, Peripheral pulmonary art...	ORPHA:90349
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Trichothiodystrophy	Multiple joint contractures, Ventricular septal defect, Hypoplasia of mandible relative to maxill...	ORPHA:33364
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Ventricular septal defect, High, narrow palate, Renal tubular acidosis, Short philtrum, Periphera...	OMIM:619575
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	11 pairs of ribs, Short metacarpal, Ventricular septal defect, Bicuspid aortic valve, Micrognathi...	OMIM:271640
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Hypop...	OMIM:615546
Branchiooculofacial Syndrome	Hypospadias, Facial palsy, Renal agenesis, Abnormality of the dentition, Malrotation of colon, Cl...	OMIM:113620
Lethal Acantholytic Erosive Disorder	Respiratory failure	ORPHA:158687
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Abnormality of the pulmonary artery	ORPHA:363618
Periventricular Nodular Heterotopia 9	Microcephaly, Gray matter heterotopia, Hypoplasia of the corpus callosum, Periventricular nodular...	OMIM:618918
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Functional...	ORPHA:573278
Mgat2-Cdg	Ventricular septal defect, Dental crowding, Patent ductus arteriosus, Abnormal heart morphology, ...	ORPHA:79329
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Ventricular hypertrophy, Delayed eruption of teeth, Short metacarpal, Hypoplasia of the ulna, Ven...	OMIM:143095
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Oral-pharyngeal dysphagia, Respiratory insuff...	ORPHA:273
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2754
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Respiratory failure	OMIM:300868
Yunis-Varon Syndrome	Micrognathia, Short metatarsal, Short philtrum, High palate, Absent hallux, Micropenis, Patent fo...	OMIM:216340
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	High palate, Open mouth, Flexion contracture, Ventricular septal defect	OMIM:614653
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Microretrognathia, Hepatomegaly, Ventricular septal defect, Splenomegaly, High palate, Weakness o...	OMIM:619418
Abetalipoproteinemia	Respiratory failure	ORPHA:14
Proteus Syndrome	Decreased muscle mass, Thymus hyperplasia, Abnormal dental enamel morphology, Testicular neoplasm...	ORPHA:744
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Bilateral Perisylvian Polymicrogyria	Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migration, Bilateral per...	ORPHA:98889
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery dilatation, Emphysema, Pulmonary artery aneurysm	OMIM:614437
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Thin upper lip vermilion, Torticollis, Ventricular septal defect, Bicuspid aortic ...	OMIM:619475
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal defect, Ventricular septal hypertrophy, Small hand	OMIM:614947
Sarcoidosis	Abnormal nasal mucosa morphology, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, ...	ORPHA:797
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2556
Combined Immunodeficiency-Enteropathy Spectrum	Ventricular septal defect, Intestinal malrotation, Jejunoileal ulceration, Rectal abscess, Hypopl...	ORPHA:436252
Eisenmenger Syndrome	Hepatomegaly, Renal insufficiency, Ventricular septal defect, Patent ductus arteriosus, Aortopulm...	ORPHA:97214
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Multicystic kidney dysplasia, Hypospadias, Aganglionic megacolon, Unilateral renal agenesis, Rena...	OMIM:308205
Pmm2-Cdg	Mandibular prognathia, Multiple joint contractures, Intracranial hemorrhage, Hyperplastic labia m...	ORPHA:79318
Craniotubular Dysplasia, Ikegawa Type	Ventricular septal defect, Thick lower lip vermilion, Short palm, Thick upper lip vermilion, Long...	OMIM:619727
Witteveen-Kolk Syndrome	Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ...	OMIM:613406
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Pituitary Stalk Interruption Syndrome	Death in infancy, Septo-optic dysplasia	ORPHA:95496
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Anterior pituitary agenesis	OMIM:620303
Nystagmus 8, Congenital, Autosomal Recessive		OMIM:257400

Histopathology

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

There is no histopathology data for Robo1

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Robo1.

No publications found that use IMPC mice or data for Robo1.

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

MGI Allele	Allele Type	Produced
Robo1^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Robo1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Robo1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Robo1 MGI:1274781

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Robo1 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data