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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
decreased locomotor activity	Robo1^em1(IMPC)Mbp	HET	Early adult	6.14×10^-06
decreased thigmotaxis	Robo1^em1(IMPC)Mbp	HET	Early adult	7.96×10^-07
preweaning lethality, incomplete penetrance	Robo1^em1(IMPC)Mbp	HOM	Early adult	0.00
abnormal behavior	Robo1^em1(IMPC)Mbp	HET	Early adult	8.95×10^-07
decreased anxiety-related response	Robo1^em1(IMPC)Mbp	HET	Early adult	2.47×10^-05
no spontaneous movement	Robo1^em1(IMPC)Mbp	HOM	E18.5	0.00
no spontaneous movement	Robo1^em1(IMPC)Mbp	HET	E18.5	0.00
preweaning lethality, complete penetrance	Robo1^em1(IMPC)Mbp	HOM	Early adult	0.00

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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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MicroCT E18.5

Embryo reconstruction

8 Images

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X-ray

XRay Images Whole Body Lateral Orientation

40 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 (2253 diseases)

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

Disease	Matching phenotypes	Source
Neurooculorenal Syndrome	Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Unilateral renal agenesis, Short hallu...	OMIM:620305
Pituitary Stalk Interruption Syndrome	Cryptorchidism, Ectopic posterior pituitary, Hypoplasia of penis	ORPHA:95496
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Anterior pituitary hypoplasia, Anterior pituitary agenesis, Ectopic posterior pituitary	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
Ventricular Septal Defect 2	Perimembranous ventricular septal defect	OMIM:614431
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Tumor Predisposition Syndrome 1	Malignant mesothelioma, Uveal melanoma, Renal cell carcinoma, Meningioma, Lung adenocarcinoma, Cu...	OMIM:614327
Colorectal Cancer, Susceptibility To, 12	Carcinoma, Colorectal polyposis	OMIM:615083
Small Cell Cancer Of The Lung	Neoplasm of the lung	OMIM:182280
Li-Fraumeni Syndrome	Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma...	OMIM:151623
Genitopalatocardiac Syndrome	Transposition of the great arteries, Hypospadias, Right aortic arch, Renal cyst, Cleft upper lip,...	OMIM:231060
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Chudley-Mccullough Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Polymicrogyria, Gra...	OMIM:604213
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Sub-Cortical Nodular Heterotopia	Hypoplasia of the corpus callosum, Polymicrogyria, Abnormal basal ganglia morphology, Abnormality...	ORPHA:101029
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Hypoplasia of the corpus callosum, Thin corpus callosum, Cortical dysplasia, Agyria, Gray matter ...	OMIM:615411
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Lissencephaly, X-Linked, 1	Agyria, Gray matter heterotopia, Death in infancy, Pachygyria, Agenesis of corpus callosum, Lisse...	OMIM:300067
Tumor Predisposition Syndrome 4	Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma	OMIM:609265
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Retrognathia, Long nose, Abnormal heart morphology, Abnormality of the kidney, Perimembranous ven...	ORPHA:363444
Birk-Aharoni Syndrome	Muscular ventricular septal defect, Duplicated collecting system, Long nasal bridge, Micrognathia...	OMIM:620071
Prune Belly Syndrome	Intestinal malrotation, Congenital posterior urethral valve, Abnormality of the bladder, Urogenit...	ORPHA:2970
46,Xx Sex Reversal 5	Urogenital sinus anomaly, Aplasia of the left hemidiaphragm, Secundum atrial septal defect, Ambig...	OMIM:618901
Schizencephaly	Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum	OMIM:269160
Melanoma-Pancreatic Cancer Syndrome	Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade...	OMIM:606719
Spinal Muscular Atrophy, Type I	Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections, Death in childhood	OMIM:253300
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Recombinant Chromosome 8 Syndrome	Thick lower lip vermilion, Anteverted nares, Gingival overgrowth, Ventricular septal defect, Abno...	OMIM:179613
Craniofacial Conodysplasia	Hydrocephalus, Spinal cord compression	ORPHA:85168
Lissencephaly 3	Hypoplasia of the corpus callosum, Polymicrogyria, Agyria, Gray matter heterotopia, Microcephaly,...	OMIM:611603
Mitochondrial Complex I Deficiency, Nuclear Type 39	Perimembranous ventricular septal defect, Hypospadias, Hypertrophic cardiomyopathy, Cardiomegaly,...	OMIM:620135
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Cortical Dysplasia, Complex, With Other Brain Malformations 1	Hypoplasia of the corpus callosum, Fusion of the caudate and putamen, Thin corpus callosum, Corti...	OMIM:614039
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Pulmonic stenosis, Hydronephrosis, Hydroureter	OMIM:264140
Atrioventricular Septal Defect 5	Atrioventricular canal defect, Muscular ventricular septal defect, Hypoplastic left heart	OMIM:614474
8P23.1 Duplication Syndrome	Wide nose, Pulmonic stenosis, Hydronephrosis, Tetralogy of Fallot, Thick vermilion border, Long p...	ORPHA:251076
Glycogen Storage Disease 0, Muscle	Left atrial enlargement, Stroke, Cardiomyopathy, Decreased muscle glycogen content, Left ventricu...	OMIM:611556
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Microlissencephaly	Hypoplasia of the corpus callosum, Cerebral dysmyelination, Polymicrogyria, Thick cerebral cortex...	ORPHA:1083
Congenital Heart Defects, Multiple Types, 6	Transposition of the great arteries, Hypoplastic pulmonary veins, Right aortic arch, Pulmonary ar...	OMIM:613854
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Missing ribs, Anal atresia, P...	OMIM:220210
Fallot Complex With Severe Mental And Growth Retardation	Pulmonic stenosis, Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot	OMIM:601127
Pierre Robin Syndrome	Glossoptosis, Micrognathia, Pierre-Robin sequence, Cleft palate, Cor pulmonale	OMIM:261800
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Ventricular Septal Defect 1	Atrioventricular canal defect, Pulmonic stenosis, Tetralogy of Fallot, Atrial septal defect, Vent...	OMIM:614429
Meckel Syndrome, Type 8	Short nose, Enlarged kidney, Polycystic kidney dysplasia, Depressed nasal ridge, Pericardial effu...	OMIM:613885
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Ectopic kidney, Truncus arteriosus, Pulmonary artery atresia, Cryptorchidism, Intesti...	ORPHA:401935
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Patent foramen ovale, Vesicoureteral reflux, Hypoplasia of the maxilla, Cl...	OMIM:614261
Mandibulofacial Dysostosis With Alopecia	Hydroureter, Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxill...	OMIM:616367
Lissencephaly 1	Secondary microcephaly, Agyria, Gray matter heterotopia, Abnormal cerebral white matter morpholog...	OMIM:607432
Nephronophthisis 16	Situs inversus totalis, Enlarged kidney, Nephronophthisis, Polycystic kidney dysplasia, Hypertrop...	OMIM:615382
Trisomy 17P	Hypoplasia of penis, Aortic valve stenosis, Urethral valve, Wide mouth, Urethral stenosis, Polycy...	ORPHA:261290
Immunodeficiency 95	Respiratory failure, Recurrent respiratory infections, Recurrent viral upper respiratory tract in...	OMIM:619773
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Pulmonary artery atresia, Secundum atrial septal defect, Tetralogy of Fallot, Left ventricular hy...	OMIM:108900
Intellectual Developmental Disorder, Autosomal Recessive 72	Narrow nasal base, Wide nasal base, Prominent nose, Secundum atrial septal defect, Broad nasal ti...	OMIM:618665
Codas Syndrome	Short nose, Midline defect of the nose, Hydroureter, Delayed eruption of teeth, Abnormal dental e...	ORPHA:1458
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, Left ventricular hypert...	OMIM:613424
Ciliary Dyskinesia, Primary, 21	Bronchiectasis, Neonatal respiratory distress, Recurrent pneumonia, Atelectasis	OMIM:615294
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Hydroureter, Hypoplasia of penis, Abnormality of the bladder, Abnormality of the uppe...	ORPHA:2547
Diamond-Blackfan Anemia 7	Vesicoureteral reflux, Esophagitis, Choanal atresia, Secundum atrial septal defect, Tetralogy of ...	OMIM:612562
Cardiomyopathy, Dilated, 2H	Secundum atrial septal defect, Muscular ventricular septal defect	OMIM:620203
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy	OMIM:115210
Intellectual Developmental Disorder, Autosomal Recessive 65	Thin vermilion border, Contracture of the proximal interphalangeal joint of the 4th finger, Hypos...	OMIM:618109
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Abnormal lower lip morphology, Vesicou...	ORPHA:1166
14Q11.2 Microdeletion Syndrome	Short nose, Exaggerated cupid's bow, High palate, Everted lower lip vermilion, Narrow mouth, Micr...	ORPHA:261120
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Everted upper lip vermilion, Supernumerary nipple, Unilateral renal agenesis, Dilation of Virchow...	OMIM:619951
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Perimembranous ventricular septal defect, Short 2nd finger, Cleft upper lip, Coarctation of aorta...	OMIM:600987
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Unilateral renal agenesis, Anomalous origin of left coronary artery from the pulmonary artery, Bi...	OMIM:618845
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Hypoplasia of the corpus callosum, Polymicrogyria, Microcephaly, Unilateral polymicrogyria, Agene...	OMIM:610031
Congenital Pulmonary Airway Malformation	Respiratory insufficiency, Abnormal pleura morphology	ORPHA:2444
Agnathia-Otocephaly Complex	Situs inversus totalis, Wide nose, Narrow mouth, Mandibular aplasia, Micrognathia, Cleft palate, ...	OMIM:202650
Fetal Trimethadione Syndrome	Short nose, Transposition of the great arteries, Hypospadias, High palate, Micrognathia, Tetralog...	ORPHA:1913
Trisomy 1Q	Congenital diaphragmatic hernia, Congenital megaureter, Wide nose, Ventricular septal defect, Nar...	ORPHA:261344
Sonoda Syndrome	Ventricular septal defect, Narrow mouth, Depressed nasal bridge	OMIM:270460
Aica-Ribosiduria Due To Atic Deficiency	Clitoral hypertrophy, Elevated urinary 5-amino-4-imidazolecarboxamide-riboside level, Anteverted ...	OMIM:608688
Bardet-Biedl Syndrome 19	External genital hypoplasia, Hyposmia, Partial atrioventricular canal defect, Renal hypoplasia, H...	OMIM:615996
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Nephronophthisis 14	Situs inversus totalis, Nephronophthisis, Polycystic kidney dysplasia	OMIM:614844
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Hypoplasia of the corpus callosum, Progressive microcephaly, Microcephaly, Periventricular nodula...	OMIM:608097
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Tetralogy of Fallot, Bicuspid aortic valve, Atrial septal defect, Ventricu...	OMIM:617912
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Congenital malformation of the great arteries, Abnormal heart morphology, Upper l...	ORPHA:294975
Chromosome 9P Deletion Syndrome	Retrognathia, Long philtrum, Narrow palate, Perimembranous ventricular septal defect, Hypospadias...	OMIM:158170
Primary Pulmonary Hypoplasia	Abnormal hemidiaphragm morphology, Patellar hypoplasia, Dextrocardia, Ureteral stenosis, Microgna...	ORPHA:2257
Diabetic Embryopathy	Transposition of the great arteries, Ureteral duplication, Renal hypoplasia/aplasia, Ventricular ...	ORPHA:1926
Larynx Atresia	Respiratory insufficiency, Recurrent respiratory infections	ORPHA:1202
Noonan Syndrome 9	Hydroureter, Ventricular septal defect, Pulmonic stenosis, Coarctation of aorta, Cryptorchidism	OMIM:616559
Band Heterotopia	Hydrocephalus, Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum, Lateral vent...	OMIM:600348
Cayler Cardiofacial Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus	OMIM:125520
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Abnormal coronary artery morphology, Hepatomegaly, Abnorm...	ORPHA:860
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short nose, Perimembranous ventricular septal defect, Transposition of the great arteries, 11 pai...	OMIM:617877
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the kidney, Hydroureter, Abnormality of the upper urinary tract, Hydronephrosis, A...	ORPHA:2838
Paternal Uniparental Disomy Of Chromosome 5	Short lower limbs, Secundum atrial septal defect, Rhizomelic arm shortening, Renal duplication	ORPHA:96190
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum	ORPHA:171703
Nut Midline Carcinoma	Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom...	ORPHA:443167
Megabladder, Congenital	Stage 5 chronic kidney disease, Multiple glomerular cysts, Fetal megacystis, Left ventricular non...	OMIM:618719
Indomethacin Embryofetopathy	Abnormal renal tubule morphology, Renal insufficiency, Cardiomyopathy, Nephropathy, Atrial septal...	ORPHA:1909
Fetal Minoxidil Syndrome	Micrognathia, Cryptorchidism, Ventricular septal defect, Depressed nasal bridge	ORPHA:1918
Carpenter Syndrome 1	Pulmonic stenosis, Transposition of the great arteries, External genital hypoplasia, Camptodactyl...	OMIM:201000
22Q11.2 Duplication Syndrome	Transposition of the great arteries, Wide nose, Interrupted aortic arch, Depressed nasal ridge, M...	ORPHA:1727
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Urinary incontinence, Limb hypertonia, Aortic aneurysm, High palate, Multiple muscular ventricula...	OMIM:620070
Ring Chromosome 8 Syndrome	Abnormal palate morphology, Short nose, Anteverted nares, Abnormality of the ureter, Hydronephrosis	ORPHA:1450
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Retrognathia, Bifid nasal tip, Short foot, Renal hypoplasia, Secundum atrial septal defect, Wide ...	OMIM:619758
Microphthalmia, Syndromic 12	Congenital diaphragmatic hernia, Retrognathia, Hypoplastic left atrium, Ventricular septal defect...	OMIM:615524
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Cortical dysplasia, Abnormal corpus callosum morphology, Microcephaly, Abnormality...	OMIM:618709
Sandestig-Stefanova Syndrome	Retrognathia, Perimembranous ventricular septal defect, Muscular ventricular septal defect, Orofa...	OMIM:618804
Congenital Primary Megaureter	Congenital megaureter, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithiasis...	ORPHA:617
Nemaline Myopathy 9	High palate, Nemaline bodies, Arthrogryposis multiplex congenita, Micrognathia, Cleft palate, Ven...	OMIM:615731
Distal Triplication 15Q	Abnormality of the kidney, Retrognathia, Hypoplastic aortic arch, Polycystic kidney dysplasia, Ab...	ORPHA:314588
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Microdontia, Pulmonic stenosis, Long philtrum, Bicuspid aortic valve, Short 5th finger, Anteverte...	OMIM:610759
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Muscular ventricular septal defect, Notched primary central incisor, Hydrocele testis	OMIM:620062
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the corpus callosum, Cavum septum pellucidum, Polymicrogyria, Cortical dysplasia, A...	ORPHA:300573
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Mild malformation of cortical development, Abnormal cerebral white ma...	ORPHA:500166
Stankiewicz-Isidor Syndrome	Retrognathia, Ureteral duplication, Hypospadias, Truncus arteriosus, Ventricular septal defect, M...	OMIM:617516
Lissencephaly 4	Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Primary micro...	OMIM:614019
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Patent foramen ovale, Cardiomyopathy, High palate, Narrow mouth, Spinal muscular atrophy, Increas...	OMIM:616866
Gillessen-Kaesbach-Nishimura Syndrome	Congenital diaphragmatic hernia, Retrognathia, Polycystic kidney dysplasia, Bicornuate uterus, Mi...	OMIM:263210
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Intestinal malrotation, Long philtrum, Hypospadias, Short philtrum, Anteverted nares, Patent fora...	OMIM:618316
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Short nose, Hydroureter, Hypercalciuria, Anteverted nares, Restrictive ca...	OMIM:615398
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Hydrocephalus, Agenesis of corpus callosum	OMIM:166990
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies	Abnormal cortical gyration, Polymicrogyria, Microcephaly, Neonatal death, Aplasia/Hypoplasia of t...	OMIM:619602
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Renal tubular acidosis, Patent foramen ovale, Arthrogryposis multiplex congenita, Micrognathia, N...	OMIM:208085
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Perimembranous ventricular septal defect, Hepatomegaly, Short nose, Wide nose, Neur...	OMIM:608779
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Recurrent bronchitis, Atelectasis	OMIM:300455
Mirror Movements 1	Agenesis of corpus callosum	OMIM:157600
Snijders Blok-Campeau Syndrome	Perimembranous ventricular septal defect, Widely spaced teeth, High palate, Pulmonic stenosis, En...	OMIM:618205
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Thomas Syndrome	Renal hypoplasia/aplasia, Cleft upper lip, Cleft palate, Multicystic kidney dysplasia, Hypoplasti...	ORPHA:3316
Burn-Mckeown Syndrome	Abnormal palate morphology, Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide n...	ORPHA:1200
Cardiomyopathy, Dilated, 2J	Dilated cardiomyopathy, Secundum atrial septal defect	OMIM:620635
Atrial Fibrillation, Familial, 6	Left atrial enlargement, Left ventricular hypertrophy	OMIM:612201
Classic Multiminicore Myopathy	Muscular dystrophy, Weakness of facial musculature, Mandibular prognathia, High palate, Generaliz...	ORPHA:324604
Epidermodysplasia Verruciformis, Susceptibility To, 3	Verrucae, Basal cell carcinoma, Squamous cell carcinoma	OMIM:618267
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Paget Disease Of Bone 6	Nephrocalcinosis, Coronary artery atherosclerosis, Left ventricular hypertrophy	OMIM:616833
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Hypospadias, Mandibular prognathia, Abnormal nasal base norphology...	ORPHA:1919
Left Ventricular Noncompaction 1	Patent ductus arteriosus, Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricul...	OMIM:604169
Oligomeganephronia	Congenital diaphragmatic hernia, Abnormal nephron morphology, Decreased glomerular filtration rat...	ORPHA:2260
Cardiac Valvular Dysplasia 1	Left atrial enlargement, Pulmonic stenosis, Mitral valve prolapse, Hypoplasia of right ventricle,...	OMIM:212093
Interstitial Pneumonitis, Desquamative, Familial	Respiratory failure, Desquamative interstitial pneumonitis, Recurrent upper respiratory tract inf...	OMIM:263000
Pontocerebellar Hypoplasia, Type 17	Limb hypertonia, Secundum atrial septal defect, Microretrognathia, Patent ductus arteriosus, Vent...	OMIM:619909
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Hypertrophic cardiomyopathy, Cardiomyocyte hypertrophy, Myofiber disarray, ...	OMIM:612158
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Respiratory failure, Dysphagia, Aspiration pn...	ORPHA:90117
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	High palate, Micrognathia, Secundum atrial septal defect, Prominent nose, Hyperplasia of the maxilla	OMIM:620194
Marden-Walker Syndrome	Retrognathia, Renal hypoplasia/aplasia, Bifid uvula, Abnormality of the kidney, Hypospadias, Clef...	ORPHA:2461
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Bicuspid aortic valve, Septate vagina, Narrow nose, Labial hypoplasia, Pelv...	OMIM:300707
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Renal tubular acidosis, Arthrogryposis multiplex congenita, Glycosuria, Nephrocalci...	OMIM:613404
Long Qt Syndrome 16	Perimembranous ventricular septal defect	OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 21	Mitral valve prolapse, Myofiber disarray, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:614676
Ciliary Dyskinesia, Primary, 5	Respiratory insufficiency due to defective ciliary clearance, Nasal polyposis, Recurrent sinusiti...	OMIM:608647
Ellis Van Creveld Syndrome	Renal hypoplasia/aplasia, Microdontia, Abnormal oral frenulum morphology, Short distal phalanx of...	ORPHA:289
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Hypoplastic nasal tip, High palate, Persistent left superior vena cava, Pulmonic stenosis, Microg...	ORPHA:3304
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Endocardial fibrosis, Left ventricular noncompaction, Dilated cardiomyopathy, Left ventricular hy...	OMIM:601493
Monosomy 18Q	Pulmonary valve defects, Aortic valve stenosis, Left aortic arch with right descending aorta and ...	ORPHA:1600
Femoral-Facial Syndrome	Orofacial cleft, Short nose, Renal hypoplasia/aplasia, Long penis, Polycystic kidney dysplasia, A...	ORPHA:1988
Mmep Syndrome	Orofacial cleft, Mandibular prognathia, Ventricular septal defect, Cryptorchidism, Median cleft u...	ORPHA:3434
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Muscular ventricular septal defect, Unilateral renal agenesis, Esophageal atresia, ...	OMIM:619227
Cardiomyopathy, Dilated, 1Kk	Dilated cardiomyopathy, Ventricular septal hypertrophy, Hypertrophic cardiomyopathy, Left ventric...	OMIM:615248
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Secondary microcephaly, Dysplastic corpus callosum, Reduced cerebral white matter volume, Hyperin...	OMIM:620317
Mungan Syndrome	Perimembranous ventricular septal defect, Intestinal pseudo-obstruction, Vesicoureteral reflux, B...	OMIM:611376
Burn-Mckeown Syndrome	Hypomimic face, Thin vermilion border, Bilateral choanal atresia, Unilateral renal agenesis, Shor...	OMIM:608572
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Retrognathia, Meckel diverticulum, Dilatation of the bladder, Tracheoesophageal fistula, Intestin...	OMIM:265380
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Retrognathia, Wide nose, Skeletal muscle hypertrophy, Ventricular hypert...	OMIM:300280
Penile Agenesis	Short nose, Rectal fistula, Hydroureter, Abnormality of the bladder, Bilateral renal agenesis, Ve...	ORPHA:49
Fanconi Anemia, Complementation Group O	Hypoplasia of the radius, External genital hypoplasia, Rectal atresia, Renal cyst, Anal atresia, ...	OMIM:613390
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Neonatal respiratory distress, Atelectasis	OMIM:267450
Spastic Paraplegia 45, Autosomal Recessive	Hypoplasia of the corpus callosum, Dysplastic corpus callosum	OMIM:613162
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:619466
Surfactant Metabolism Dysfunction, Pulmonary, 1	Intraalveolar phospholipid accumulation, Death in infancy, Respiratory failure, Neonatal death, I...	OMIM:265120
Polycystic Kidney Disease 5	Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys, Hepatosplenomegaly, Reduced...	OMIM:617610
Atrial Septal Defect 1	Atrial septal dilatation, Persistent left superior vena cava, Aortic valve stenosis, Tetralogy of...	OMIM:108800
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent lower respiratory tract infections, Recurrent bronchitis, Recurrent pneumo...	OMIM:616726
Pallister-Hall Syndrome	Ectopic kidney, Shortening of all distal phalanges of the fingers, Mesomelia, Short 4th metacarpa...	OMIM:146510
Combined Oxidative Phosphorylation Deficiency 51	Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia	OMIM:619057
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Long philtrum, High, narrow palate, Unilateral renal agenesis, Low hanging columella, Patent fora...	OMIM:618494
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Muscle Filaminopathy	Muscle fiber splitting, Abnormality of masticatory muscle, Weakness of facial musculature, Cardio...	ORPHA:171445
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Perimembranous ventricular septal defect, Hypospadias, Anteverted nares, Cryptorchidism, Malar fl...	OMIM:301040
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Pulmonic stenosis, Secundum atrial septal defect	OMIM:178650
Surfactant Metabolism Dysfunction, Pulmonary, 3	Reticular pattern on pulmonary HRCT, Paraseptal emphysema, Honeycomb lung, Intraalveolar phosphol...	OMIM:610921
Sotos Syndrome	Narrow palate, Abnormality of the kidney, Advanced eruption of teeth, Muscular ventricular septal...	OMIM:117550
Hadziselimovic Syndrome	Thick lower lip vermilion, Anteverted nares, Ventricular hypertrophy, Pulmonary artery atresia, H...	OMIM:612946
Microcephaly 5, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Cortical dysplasia, Small cerebral cortex, Microcephaly, Simpl...	OMIM:608716
Meckel Syndrome, Type 7	Situs inversus totalis, Multiple glomerular cysts, Multicystic kidney dysplasia, Bile duct prolif...	OMIM:267010
Congenital Disorder Of Glycosylation, Type Il	Short nose, Hepatomegaly, Polycystic kidney dysplasia, Pericardial effusion, Wide mouth, Splenome...	OMIM:608776
Frontometaphyseal Dysplasia 1	Wrist flexion contracture, Mitral valve prolapse, Selective tooth agenesis, Elbow flexion contrac...	OMIM:305620
Cardiomyopathy, Dilated, 2D	Muscular ventricular septal defect, Patent foramen ovale, Perinuclear cardiomyocyte vacuolization...	OMIM:619371
Weiss-Kruszka Syndrome	Short nose, Decreased response to growth hormone stimulation test, Prominent nasal tip, Exaggerat...	ORPHA:502430
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Calf muscle hypertrophy, Elbow flexion contracture, Abnormality of the shoulder girdle musculatur...	ORPHA:206546
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Congenital Anomalies Of Kidney And Urinary Tract 2	Hydroureter, Congenital megaureter, Renal hypoplasia, Ureteropelvic junction obstruction, Hydrone...	OMIM:143400
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Flexion contracture of toe, Wide mouth, Proximal muscle weakness in lower limbs, Rectovestibular ...	ORPHA:280633
Maternal Phenylketonuria	Long philtrum, Deviated nasal septum, Esophageal atresia, Abnormal renal morphology, Anteverted n...	ORPHA:2209
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Beaulieu-Boycott-Innes Syndrome	Long nose, Unilateral renal agenesis, Endometriosis, Low hanging columella, Recurrent urinary tra...	OMIM:613680
Feingold Syndrome Type 1	Abnormal heart morphology, Abnormality of the kidney, Tricuspid atresia, Multiple muscular ventri...	ORPHA:391641
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Truncus arteriosus, Cleft palate, Short distal phalanx of finger, Vent...	OMIM:601355
Verheij Syndrome	Retrognathia, Short nose, Anteverted nares, Truncus arteriosus, Renal cyst, Renal agenesis, Renal...	OMIM:615583
X-Linked Neurodegenerative Syndrome, Bertini Type	Agenesis of corpus callosum, Death in infancy	ORPHA:85334
Catel-Manzke Syndrome	Glossoptosis, Oral synechia, Camptodactyly of finger, Micrognathia, Cleft palate, Malar flattenin...	ORPHA:1388
Mesoaxial Hexadactyly And Cardiac Malformation	External genital hypoplasia, Torticollis, Everted lower lip vermilion, Pulmonic stenosis, Patent ...	OMIM:249670
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Thin corpus callosum, Cortical dysplasia, Dysgenesis of the basal ganglia, Subcortical band heter...	OMIM:615771
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Increased urine succinate level, Hepatomegaly, Ventricular hypertrophy, Left ventricular hypertrophy	OMIM:619048
Testicular Anomalies With Or Without Congenital Heart Disease	Perineal hypospadias, Corpus cavernosum hypoplasia, Microphallus, Tetralogy of Fallot, Ambiguous ...	OMIM:615542
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Thick lower lip vermilion, Short philtrum, Micrognathia, Atrial septal defect, Ventricular septal...	OMIM:608227
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia, Reduced cerebral white matter volume	OMIM:618185
Bronchopulmonary Dysplasia	Respiratory failure requiring assisted ventilation, Emphysema, Atelectasis, Pulmonary sequestrati...	ORPHA:70589
Suleiman-El-Hattab Syndrome	Thick lower lip vermilion, Patent foramen ovale, Ventricular septal defect, High palate, Downturn...	OMIM:618950
Bazex Syndrome	Liposarcoma, Lung adenocarcinoma, Neoplasm	ORPHA:166113
Holzgreve Syndrome	Renal agenesis, Renal hypoplasia, Cleft upper lip, Cleft palate, Hypoplastic left heart	OMIM:236110
Microcephaly 30, Primary, Autosomal Recessive	Cleft soft palate, Pierre-Robin sequence, Secundum atrial septal defect, Choanal stenosis, Thin u...	OMIM:620183
Recurrent Respiratory Papillomatosis	Atelectasis, Respiratory insufficiency, Choking episodes, Abnormal lung morphology, Recurrent pne...	ORPHA:60032
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Muscle fiber splitting, Muscular dystrophy, Calf muscle pseudohypertrophy, Muscle fiber necrosis,...	OMIM:253700
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Perianal abscess, Pulmonic stenosis, Splenomegaly, Myopathy, Secundum atrial septal defect, Cleft...	OMIM:612541
Urofacial Syndrome 1	Hydroureter, Urethral obstruction, Recurrent urinary tract infections, Enuresis, Hydronephrosis, ...	OMIM:236730
Prune Belly Syndrome	Aplasia of the abdominal wall musculature, Hydroureter, Anal atresia, Hydronephrosis, Congenital ...	OMIM:100100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Skeletal muscle hypertrophy, Facial palsy, Cryptorchidism, Flexion contractur...	OMIM:613156
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Calf muscle pseudohypertrophy, Calf muscle hypertrophy, Scapular winging, Upper limb muscle weakn...	ORPHA:353
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Colonic diverticula, Mitral valve prolapse, Cerebral berry aneurysm,...	OMIM:173900
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
8Q12 Microduplication Syndrome	Vesicoureteral reflux, Narrow mouth, Everted lower lip vermilion, Long philtrum, Atrial septal de...	ORPHA:228399
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:613876
Ciliary Dyskinesia, Primary, 29	Bronchiectasis, Recurrent respiratory infections, Atelectasis	OMIM:615872
Fanconi Renotubular Syndrome 5	Emphysema, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Allergic Bronchopulmonary Aspergillosis	Bronchiectasis, Respiratory insufficiency, Emphysema	ORPHA:1164
Houge-Janssens Syndrome 3	Muscular ventricular septal defect, Short philtrum, High palate, Broad nasal tip, Atrial septal d...	OMIM:618354
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Narrow mouth, Abnormal nasal morphology, Abnormal localization of kidney, Ventricular septal defe...	ORPHA:83473
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Long philtrum, Wide nose, Aortic aneurysm, Abnormal renal morphology, Patent foramen ovale, Dista...	ORPHA:477817
Hoxha-Aliu Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Perimembranous ventricular s...	OMIM:620662
Autosomal Recessive Amelia	Orofacial cleft, Hypoplasia of penis, Non-midline cleft of the upper lip, Amelia involving the up...	ORPHA:1027
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Gingival bleeding, Decreased testicular size, Volvulus, Right ventricul...	ORPHA:335
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Abnormal palate morphology, Tooth agenesis, Abnormal mitral valve morphology, Micrognathia, Mesom...	ORPHA:1277
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Aganglionic megacolon, Bulbous nose, Prominent nasal bridge, Flexion contracture, Pat...	OMIM:613870
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Renal hypoplasia/aplasia, Truncus arteriosus, Abnormal aortic morphology, Re...	ORPHA:2516
Lissencephaly Due To Tuba1A Mutation	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hypoplastic anteri...	ORPHA:171680
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum...	ORPHA:2590
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Gonadal dysgenesis, Secundum atrial septal defect	OMIM:611926
Czeizel-Losonci Syndrome	Dextrocardia, Congenital megaureter, Hypoplastic nipples, High palate, Aplasia of the left hemidi...	ORPHA:2437
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Respiratory failure, Neonatal respiratory distress, Pulmonary hypoplasia, Dysphagia	OMIM:616867
Cystic Hamartoma Of Lung And Kidney	Respiratory insufficiency, Recurrent respiratory infections, Pulmonary fibrosis	ORPHA:2111
Subependymal Nodular Heterotopia	Occipital encephalocele, Nasofrontal encephalocele, Meningocele, Polymicrogyria, Gray matter hete...	ORPHA:101030
Pandas	Anorexia, Irritability, Obsessive-compulsive trait, Abnormal fear-induced behavior, Depression, E...	ORPHA:66624
Immunodeficiency 110 With Lymphoproliferation	Recurrent aphthous stomatitis, Patent foramen ovale, Recurrent sinusitis, Secundum atrial septal ...	OMIM:614868
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of penis, Aplasia of the proximal phalanges of the hand, Ventr...	ORPHA:2256
Peroxisome Biogenesis Disorder 3A (Zellweger)	Polycystic kidney dysplasia, Hepatomegaly, Vascular dilatation, Wide nasal bridge	OMIM:614859
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Hypoplastic aortic arch, Abnormal left ve...	ORPHA:1457
Congenital Heart Defects, Multiple Types, 4	Atrioventricular canal defect, Aortic valve stenosis, Coarctation of aorta, Tetralogy of Fallot, ...	OMIM:615779
Cheilitis Glandularis	Squamous cell carcinoma, Neoplasm	ORPHA:1221
Mckusick-Kaufman Syndrome	Hydrometrocolpos, Renal hypoplasia/aplasia, Aganglionic megacolon, Patent ductus arteriosus, Glan...	ORPHA:2473
3C Syndrome	Hypoplasia of penis, Pulmonic stenosis, Abnormal mitral valve morphology, Aortic valve stenosis, ...	ORPHA:7
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Short nose, Anteverted nares, Exaggerated cupid's bow, Wide mouth, Thick vermilion border, Delaye...	OMIM:618506
Down Syndrome	Renal hypoplasia/aplasia, Microdontia, Narrow palate, Aganglionic megacolon, Abnormality of the d...	ORPHA:870
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Ventricular septal defect, Intestinal malrotation, Downturned corners of mouth, Hydronephrosis, C...	ORPHA:457193
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Dysgyria, Hydrocephalus, Type II lissencephaly, Gray matter heterotopia,...	ORPHA:352682
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Chromosome 15Q14 Deletion Syndrome	Atrial septal defect, Short philtrum, Recurrent viral upper respiratory tract infections, Everted...	OMIM:616898
Short Stature-Wormian Bones-Dextrocardia Syndrome	Renal hypoplasia/aplasia, Dextrocardia, Anterior hypopituitarism, Delayed eruption of teeth, Broa...	ORPHA:2863
Weiss-Kruszka Syndrome	Short nose, Anteverted nares, Exaggerated cupid's bow, Dextrotransposition of the great arteries,...	OMIM:618619
Autosomal Recessive Centronuclear Myopathy	Retrognathia, Abnormal heart valve morphology, Facial diplegia, High palate, Narrow mouth, Scapul...	ORPHA:169186
Long-Olsen-Distelmaier Syndrome	Cardiomegaly, Dilated cardiomyopathy, Secundum atrial septal defect, Ventricular septal defect	OMIM:620609
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Atrial septal defect, Retrognathia, Unilateral renal agenesis, High palate, Micrognathia, Crossed...	OMIM:618142
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Transposition of the great arteri...	OMIM:619910
Coenzyme Q10 Deficiency, Primary, 8	Renal dysplasia, Flexion contracture, Abnormal renal corticomedullary differentiation, Left ventr...	OMIM:616733
Tricuspid Atresia	Hypoplasia of right ventricle, Transposition of the great arteries, Tricuspid atresia, Patent for...	ORPHA:1209
Lethal Congenital Contracture Syndrome 2	Arthrogryposis multiplex congenita, Micrognathia, Hydronephrosis, Skeletal muscle atrophy, Dilate...	OMIM:607598
Joubert Syndrome 18	Retrognathia, Renal cyst, Camptodactyly, Cleft palate, Lobulated tongue, Ventricular septal defec...	OMIM:614815
Isolated Corpus Callosum Agenesis	Agenesis of corpus callosum	ORPHA:200
Infant Acute Respiratory Distress Syndrome	Pulmonary edema, Atelectasis, Respiratory tract infection, Pneumonia, Respiratory failure	ORPHA:70587
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Hypoplasia of the frontal lobes, Microcephaly, Agenesis of corpus callos...	ORPHA:2512
Meckel Syndrome 13	Polycystic kidney dysplasia, Micrognathia, Flexion contracture	OMIM:617562
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Respiratory insufficiency, Neonatal death, Bilateral lung agenesis	OMIM:601612
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Short philtrum, Facial diplegia, Hypertrophic cardiomyopathy, Downturned corners of mouth, Bifid ...	OMIM:619121
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Death in childhood, Respiratory insufficiency, Intraalveolar phospholipid accumulation, Death in ...	OMIM:618042
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:613874
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the corpus callosum, Lissencephaly, Periventricular ribbonlike heterotopia, Thick c...	OMIM:618677
Myofibrillar Myopathy 10	Ankle flexion contracture, Knee flexion contracture, Mandibular prognathia, Elbow flexion contrac...	OMIM:619040
Cardiomyopathy, Dilated, 1U	Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:613694
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Hydroureter, Fetal megacystis, Microcolon, Abnormal heart morphology, Hydronephrosis	OMIM:619362
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Respiratory insufficiency, Pulmonary fibrosis	OMIM:178550
Pseudo-Torch Syndrome 2	Hepatomegaly, Abnormal renal corticomedullary differentiation, Secundum atrial septal defect, Cer...	OMIM:617397
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Malignant mesothelioma, Atelectas...	ORPHA:2302
Endocardial Fibroelastosis	Abnormal palate morphology, Anterior hypopituitarism, Hypoplasia of penis, Restrictive cardiomyop...	ORPHA:2022
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Agyria, Gray matter heterotopia, Pachygyria	ORPHA:1084
Wolfram Syndrome 1	Hydroureter, Neurogenic bladder, Cardiomyopathy, Stroke-like episode, Hydronephrosis, Testicular ...	OMIM:222300
Double Outlet Right Ventricle	Hypoparathyroidism, Truncus arteriosus, Pulmonary artery atresia, Narrow mouth, Pulmonic stenosis...	ORPHA:3426
Heart Defects, Congenital, And Other Congenital Anomalies	Congenital diaphragmatic hernia, Ureteral duplication, Microcolon, Pulmonic stenosis, Intestinal ...	OMIM:600001
17Q21.31 Microduplication Syndrome	Short nose, Short philtrum, Anteverted nares, High palate, Abnormality of the dentition, Microgna...	ORPHA:217340
Even-Plus Syndrome	Short nose, Recurrent urinary tract infections, Patent foramen ovale, Vesicoureteral reflux, High...	OMIM:616854
Lymphoblastic Leukemia, Acute, With Lymphomatous Features	T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma	OMIM:247640
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Micrognathia, Cleft palate, Thin upper lip vermilion	ORPHA:2015
Peroxisome Biogenesis Disorder 2A (Zellweger)	Clitoral hypertrophy, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, Campto...	OMIM:214110
Global Developmental Delay With Or Without Impaired Intellectual Development	Hypospadias, Oligodontia, Bulbous nose, Patent ductus arteriosus, Atrial septal defect, Ventricul...	OMIM:618330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Ureteral duplication, Long philtrum, Short distal phalanx of fin...	OMIM:614080
Fryns Syndrome	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Intestinal malrotation, Wide mo...	ORPHA:2059
Nephrotic Syndrome, Type 11	Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn...	OMIM:616730
Ogden Syndrome	Left atrial enlargement, Enlarged kidney, Everted upper lip vermilion, Bifid nasal tip, Cardiomeg...	OMIM:300855
Chromosome 13Q33-Q34 Deletion Syndrome	Bifid scrotum, Pulmonic stenosis, Left ventricular hypertrophy, Penoscrotal transposition, Advanc...	OMIM:619148
Koolen-De Vries Syndrome	Ureteral duplication, Everted lower lip vermilion, Microdontia, Bicuspid aortic valve, Abnormal c...	ORPHA:96169
Renal Dysplasia	Enlarged kidney, Renal hypoplasia/aplasia, Abnormal nephron morphology, Urinary incontinence, Ure...	ORPHA:93108
Frank-Ter Haar Syndrome	Dental malocclusion, Broad alveolar ridges, Patent foramen ovale, Gingival overgrowth, High palat...	OMIM:249420
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Abnormality of the dentition, Pulmonic stenosis, Enamel hypoplasia, Secundum atrial septal defect...	OMIM:615802
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Abnormal oral cavity morphology, Hypospadias, Anteverted nares, Narrow mouth, Depress...	ORPHA:1355
Pontocerebellar Hypoplasia, Type 15	Hydrocephalus, Death in infancy, Simplified gyral pattern, Agenesis of corpus callosum, Partial a...	OMIM:619302
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short nose, Hypospadias, Anteverted nares, Short ribs, Hypertrophic cardiomyopathy, Micrognathia,...	OMIM:616897
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Familial Nasal Acilia	Bronchiectasis, Atelectasis, Abnormal respiratory motile cilium morphology, Recurrent upper respi...	ORPHA:922
Phelan-Mcdermid Syndrome	Abnormality of the kidney, Widely spaced teeth, Polycystic kidney dysplasia, Vesicoureteral reflu...	OMIM:606232
Familial Visceral Myopathy	Aganglionic megacolon, Hydroureter, Anteverted nares, Vesicoureteral reflux, Camptodactyly of fin...	ORPHA:2604
Cardioacrofacial Dysplasia 1	Atrioventricular canal defect, Short philtrum, Conical tooth, Hypoplasia of the maxilla, Limb und...	OMIM:619142
Microphthalmia, Syndromic 9	Congenital diaphragmatic hernia, Right aortic arch with mirror image branching, Pulmonic stenosis...	OMIM:601186
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Ureteral duplication, Hypoplasia of penis, Cardiomyopathy, Wide ...	ORPHA:373
Congenital Disorder Of Glycosylation, Type Iig	Glossoptosis, Left ventricular hypertrophy, Long philtrum, Hemolytic-uremic syndrome, Hypospadias...	OMIM:611209
Li-Campeau Syndrome	Patellar hypoplasia, Patent foramen ovale, Cryptorchidism, Patent ductus arteriosus, Long philtru...	OMIM:619189
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Anteriorly placed anus, Anteverted nares, Everted lower lip vermili...	OMIM:619980
Cantu Syndrome	Bicuspid aortic valve, Long philtrum, Thick lower lip vermilion, Short hallux, Anteverted nares, ...	OMIM:239850
Congenital Myopathy 19	Facial hypotonia, High palate, Depressed nasal ridge, Congenital contracture, Micrognathia, Hydro...	OMIM:618578
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Unilateral renal agenesis, Polycystic kidney dysplasia, Aplasia of the uterus...	ORPHA:2237
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hypoplasia of the corpus callosum, Polymicrogyria, Gray matter heterotopia, Microcephaly, Abnorma...	OMIM:604317
Orofaciodigital Syndrome I	Abnormal heart morphology, Ovarian cyst, Tongue nodules, Alveolar ridge overgrowth, Polycystic ki...	OMIM:311200
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Nonspecific interstitial pneu...	OMIM:610913
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Situs inversus totalis, Hepatomegaly, Dextrocardia, Polycystic kidney dysplasia, Recurrent urinar...	OMIM:613095
Lissencephaly 5	Hypoplasia of the corpus callosum, Occipital encephalocele, Hydrocephalus, Type II lissencephaly,...	OMIM:615191
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares, Short distal phalanx of toe, Narrow mouth, Microdontia, Precocious ...	OMIM:619356
Cat Eye Syndrome	Meckel diverticulum, Pulmonic stenosis, Intestinal malrotation, Absent radius, Tricuspid atresia,...	OMIM:115470
Adams-Oliver Syndrome 4	Absent middle phalanx of the 3rd toe, Aplasia of the distal phalanges of the toes, Aplasia of the...	OMIM:615297
Non-Distal Duplication 10Q	Short nose, High palate, Everted lower lip vermilion, Micrognathia, Convex nasal ridge, Cryptorch...	ORPHA:1695
Bare Lymphocyte Syndrome, Type I	Emphysema, Recurrent bronchitis, Bronchiolitis, Nasal polyposis, Bronchiectasis	OMIM:604571
Truncus Arteriosus	Pulmonic stenosis, Abnormal heart morphology, Cardiomegaly, Transposition of the great arteries, ...	ORPHA:3384
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Secundum atrial septal defect, High palate, Thin upper lip vermilion, Smooth philtrum	OMIM:620242
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Vascular dilatation, Hydroureter, Vesicoureteral reflux, Nephrolithiasis, Pyloric stenosis	OMIM:617219
Noonan Syndrome 8	Patent ductus arteriosus, Ventricular septal defect, Hypertrophic cardiomyopathy, Pulmonic stenos...	OMIM:615355
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Right aor...	OMIM:620642
Idiopathic Bronchiectasis	Emphysema, Recurrent lower respiratory tract infections, Acute infectious pneumonia, Respiratory ...	ORPHA:60033
Renal-Hepatic-Pancreatic Dysplasia 1	Stage 5 chronic kidney disease, Situs inversus totalis, Enlarged kidney, Hyperechogenic pancreas,...	OMIM:208540
Mucopolysaccharidosis, Type X	Widely spaced teeth, Open bite, Nephrolithiasis, Dermatan sulfate excretion in urine, Aortic valv...	OMIM:619698
Eng-Strom Syndrome	Camptodactyly of finger, Ventricular septal defect, Abnormal cardiac septum morphology	ORPHA:1937
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Wide mouth, Cardiomegaly, Short philtrum, Patent foramen ovale, Left ventricular...	OMIM:300967
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Abnormal heart morphology, Nephrocalcinosis, Long philtrum, Exaggerated cupid's bow, Malar flatte...	ORPHA:369837
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Muscular dystrophy, Calf muscle hypertrophy, Cardiomyopathy, Triceps weakness, Limb-girdle muscle...	ORPHA:86812
Alagille Syndrome 2	Long nose, Hematuria, Renal tubular acidosis, Renal cyst, Pulmonic stenosis, Renal hypoplasia, Te...	OMIM:610205
Tetrasomy 15Q26	Hypoplastic aortic arch, High palate, Camptodactyly, Hydronephrosis, Microretrognathia, Patent du...	OMIM:614846
Hamel Cerebro-Palato-Cardiac Syndrome	Narrow mouth, Micrognathia, Cleft palate, Malar flattening, Atrial septal defect, Bulbous nose, W...	ORPHA:93946
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pattern, Agen...	OMIM:618492
Loeffler Endocarditis	Left atrial enlargement, Endocardial fibrosis, Abnormal morphology of the chordae tendinae of the...	ORPHA:75566
Congenital Myopathy 21 With Early Respiratory Failure	Respiratory failure, Lipoid pneumonia	OMIM:620326
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Congenital Gerbode Defect	Perimembranous ventricular septal defect, Vascular dilatation, Abnormal tricuspid valve leaflet m...	ORPHA:99095
Robinow Syndrome	Mesomelic arm shortening, Broad alveolar ridges, Dental crowding, Pulmonic stenosis, Abnormal hea...	ORPHA:97360
Trisomy 13	High, narrow palate, Abnormality of the dentition, Cryptorchidism, Abnormality of the ureter, Hyd...	ORPHA:3378
Ring Chromosome 12 Syndrome	Breast hypoplasia, High, narrow palate, Glandular hypospadias, Cryptorchidism, Secundum atrial se...	ORPHA:1439
Xk Aprosencephaly Syndrome	Abnormal nostril morphology, Abnormal external genitalia, Narrow mouth, Anal atresia, Atrial sept...	ORPHA:3469
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Stroke, Ventric...	OMIM:115197
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Short philtrum, Mandibular prognathia, Ectopic anus, Aplasia/Hypoplasia of the distal phalanges o...	ORPHA:94066
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory insufficiency, Ventilator dependence with inability to wean, Recurrent pneumonia, Res...	ORPHA:254875
Feingold Syndrome Type 2	Short middle phalanx of finger, Ventricular septal defect, Short thumb, Jejunal atresia	ORPHA:391646
Renal Hypodysplasia/Aplasia 3	Vesicoureteral reflux, Renal agenesis, Hydronephrosis, Abnormality of the uterus, Renal dysplasia...	OMIM:617805
Polysyndactyly With Cardiac Malformation	Anteverted nares, Renal cyst, Hepatic cysts, Atrial septal defect, Ventricular septal defect	OMIM:263630
Distal Deletion 12Q	Ectopic kidney, Pituitary adenoma, Long philtrum, Polycystic kidney dysplasia, Patent foramen ova...	ORPHA:96149
8p23.1 deletion syndrome	Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal heart morphology, Atrial...	DECIPHER:39
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Cutis Laxa, Autosomal Recessive, Type Ic	Retrognathia, Rectal prolapse, Multiple bladder diverticula, Vascular dilatation, Posterolateral ...	OMIM:613177
Diamond-Blackfan Anemia 6	Retrognathia, Ventricular hypertrophy, Cleft upper lip, Micrognathia, Bifid uvula, Tetralogy of F...	OMIM:612561
Conotruncal Heart Malformations	Transposition of the great arteries, Truncus arteriosus, Coarctation of aorta, Double outlet righ...	OMIM:217095
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ectopic kidney, Ventricular septal defect, Cryptorchidism, Cystic renal dysplasia	OMIM:613730
Feingold Syndrome 2	Intestinal atresia, Short middle phalanx of the 5th finger, Short thumb, Short middle phalanx of ...	OMIM:614326
Fliedner-Zweier Syndrome	Long philtrum, Unilateral renal agenesis, Hypoplastic aortic arch, High palate, Tracheoesophageal...	OMIM:620511
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Pontocerebellar Hypoplasia, Type 14	Hydrocephalus, Simplified gyral pattern, Agenesis of corpus callosum, Death in infancy	OMIM:619301
Birt-Hogg-Dubé Syndrome	Pneumothorax, Pulmonary sequestration, Emphysema	ORPHA:122
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Prominent veins on ...	OMIM:277740
Peroxisome Biogenesis Disorder 12A (Zellweger)	Cholelithiasis, Prominent nose, Abnormality of the male genitalia, Patent ductus arteriosus, Doub...	OMIM:614886
Raine Syndrome	Short nose, Hydroureter, Choanal atresia, Mandibular prognathia, Gingival overgrowth, High palate...	OMIM:259775
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Enlarged kidney, Ureteral duplication, Antenatal intracerebral hemorrhage, Hepatom...	OMIM:608836
Congenital Disorder Of Glycosylation, Type Ih	Perimembranous ventricular septal defect, Protein-losing enteropathy, Hepatomegaly, Camptodactyly...	OMIM:608104
Zaki Syndrome	Congenital diaphragmatic hernia, Short philtrum, Wide nose, Anteverted nares, Patent foramen oval...	OMIM:619648
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Ureteral stenosis, Intestinal malrotation, Absence of the sacrum, Right atr...	OMIM:270100
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Bifid uvula, Hydronephrosis, Abnormality of the urinary system	ORPHA:2669
Idiopathic Acute Eosinophilic Pneumonia	Respiratory insufficiency, Abnormal pleura morphology	ORPHA:724
Distal 7Q11.23 Microdeletion Syndrome	Atrial septal defect, Patent ductus arteriosus	ORPHA:254351
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Abnormality of the female genitalia, Short nose, Hypospadias, Dextro...	ORPHA:2315
Teebi Hypertelorism Syndrome 1	Short nose, Small hand, Aortic root aneurysm, Dental crowding, Anteverted nares, Bicornuate uteru...	OMIM:145420
Noonan Syndrome 4	Ureteral duplication, Dental malocclusion, Ventricular septal defect, Hypertrophic cardiomyopathy...	OMIM:610733
Genitopatellar Syndrome	Long philtrum, Clitoral hypertrophy, Wide nose, Delayed eruption of teeth, Arthrogryposis multipl...	ORPHA:85201
Genitopalatocardiac Syndrome	Congenital diaphragmatic hernia, Hypospadias, Non-midline cleft of the upper lip, Male pseudoherm...	ORPHA:2075
Craniotelencephalic Dysplasia	Hydrocephalus, Septo-optic dysplasia, Microcephaly, Agenesis of corpus callosum, Lissencephaly, F...	ORPHA:1528
Vesicoureteral Reflux 3	Hydroureter, Recurrent urinary tract infections, Grade III vesicoureteral reflux, Ureteropelvic j...	OMIM:613674
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Long philtrum, Thick lower lip vermilion, Anteverted nares, Gingival overgrowth, High palate, Eve...	OMIM:220500
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Amelia, Glossoptosis, Absent nipple, Ankyloglossia, Micrognathia, Cl...	OMIM:618021
Meckel Syndrome 14	Retrognathia, Polycystic kidney dysplasia, Anteverted nares, Aplasia of the uterus, Micrognathia,...	OMIM:619879
Pneumocystosis	Respiratory failure requiring assisted ventilation, Acute infectious pneumonia, Respiratory insuf...	ORPHA:723
Renal Tubular Dysgenesis	Proximal tubulopathy, Nephropathy, Tetralogy of Fallot, Multiple renal cysts, Renotubular dysgenesis	ORPHA:3033
Congenital Alveolar Capillary Dysplasia	Bicuspid aortic valve, Annular pancreas, Pulmonary valve atresia, Atrioventricular canal defect, ...	ORPHA:210122
Floating-Harbor Syndrome	Long nose, Mesocardia, Short metacarpal, Microdontia, Nephrocalcinosis, Wide mouth, Congenital po...	ORPHA:2044
Atrial Fibrillation, Familial, 10	Left atrial enlargement, Right ventricular dilatation, Stroke, Left ventricular hypertrophy	OMIM:614022
Heterotaxy, Visceral, 4, Autosomal	Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia, Right aortic ar...	OMIM:613751
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Hydroureter, Microcolon, Neoplasm of the heart, Intestinal malrotation, Megacystis, Cryptorchidis...	ORPHA:2241
Schinzel-Giedion Midface Retraction Syndrome	Ureteral stenosis, Abnormal nasopharynx morphology, Short distal phalanx of finger, Small scrotum...	OMIM:269150
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy	OMIM:614458
Perlman Syndrome	Retrognathia, High, narrow palate, Hepatomegaly, Short nose, Abnormal pancreas morphology, Hypopl...	ORPHA:2849
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Microcephaly, Dysplastic corpus callosum	OMIM:618276
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Wide mouth, Small scrotum, Narrow nose, Short philtrum, Antevert...	OMIM:618454
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Protein-losing enteropathy, Hepatomegaly, Pancreatic lymphangiectasis, High palate, Cryptorchidis...	OMIM:235255
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Skraban-Deardorff Syndrome	Absent cupid's bow, Widely spaced teeth, Anteverted nares, Right aortic arch, Micrognathia, Cleft...	OMIM:617616
Heart Defects-Limb Shortening Syndrome	Abnormal tricuspid valve morphology, Mesomelic/rhizomelic limb shortening, Abnormal mitral valve ...	ORPHA:1354
Craniotelencephalic Dysplasia	Lissencephaly, Absent septum pellucidum, Agenesis of corpus callosum, Frontal encephalocele	OMIM:218670
Fanconi Anemia	Abnormal carotid artery morphology, Renal hypoplasia/aplasia, Arteriovenous malformation, Meckel ...	ORPHA:84
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Posteriorly placed anus, Pulmonic stenosis, Absence of the sacrum, Cardiomegaly,...	OMIM:306955
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in adolescence	OMIM:300717
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Hypospadias, Short uvula, Polycystic kidney dysplasia, Short lingual frenulum, Short ribs, High p...	OMIM:614091
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Endocardial fibrosis, Restrictive cardiomyopathy, Hypertrophic cardiomyo...	OMIM:608751
Hajdu-Cheney Syndrome	Hypospadias, Wide nose, Absent frontal sinuses, Polycystic kidney dysplasia, Premature loss of te...	OMIM:102500
Chromosome 15Q26-Qter Deletion Syndrome	Hypospadias, Micrognathia, Short middle phalanx of finger, Cryptorchidism, Micropenis, Wide nasal...	OMIM:612626
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Thin vermilion border, Short nose, Narrow mouth, Abnormal cardiac septum morphology	ORPHA:2370
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Retrognathia, Ectopic kidney, Narrow palate, Oligodontia, Camptodactyly, Cryptorchidism, Short pa...	OMIM:235510
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Patent ductus arteriosus, Bacterial endocarditis, As...	ORPHA:3092
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Disproportionate shortening of the tibia, Polycystic kidney dysplasia, Short ribs, Pancreatic fib...	OMIM:263520
Lowry-Maclean Syndrome	Delayed eruption of teeth, Abnormal heart morphology, Cleft palate, Diaphragmatic eventration, Co...	OMIM:600252
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Retrognathia, Eclabion, Left ventricular hypertrophy, Long philtrum, Atrial septal defect, Dilata...	OMIM:620510
Periventricular Nodular Heterotopia 7	Short nose, Dental crowding, Anteverted nares, Ventricular septal defect, Narrow mouth, Micrognat...	OMIM:617201
Kleefstra Syndrome	Hypoplasia of penis, Everted lower lip vermilion, Bicuspid aortic valve, Advanced eruption of tee...	ORPHA:261494
8P Inverted Duplication/Deletion Syndrome	Retrognathia, Abnormality of dental eruption, High, narrow palate, Dextrocardia, Abnormality of t...	ORPHA:96092
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Accessory oral frenulum, Polycystic kidney dysplasia, Short ribs...	OMIM:616546
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Anomalous origin of left coronary artery from the pulmonary artery, Right aortic...	ORPHA:2326
Baraitser-Winter Cerebrofrontofacial Syndrome	Retrognathia, Thin vermilion border, Long nose, Hydroureter, Wide nose, Transient ischemic attack...	ORPHA:2995
Chromosome 1P36 Deletion Syndrome, Proximal	Atrial septal defect, Patent ductus arteriosus, Coronary artery fistula, Anteverted nares, Patent...	OMIM:619343
Filippi Syndrome	Thin vermilion border, Short philtrum, Low hanging columella, Serrated incisors, Ventricular sept...	OMIM:272440
Larsen-Like Syndrome, Lethal Type	Respiratory insufficiency, Neonatal death, Pulmonary hypoplasia	OMIM:245650
2p15-16.1 microdeletion syndrome	Camptodactyly of finger, Hydronephrosis	DECIPHER:70
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Patent foramen ovale, Ventricular septal defect, Nephrolithiasis, Left ventricular hypertrophy, B...	OMIM:615474
Isolated Succinate-Coq Reductase Deficiency	Knee flexion contracture, Noncompaction cardiomyopathy, Distal amyotrophy, Vesicoureteral reflux,...	ORPHA:3208
Cardiac Diverticulum	Abnormal coronary artery origin, Aortic valve stenosis, Abnormal heart morphology, Aplasia/Hypopl...	ORPHA:1686
Mullegama-Klein-Martinez Syndrome	Congenital diaphragmatic hernia, Short philtrum, Facial palsy, Prominent nose, Submucous cleft of...	OMIM:301022
Tetralogy Of Fallot	Thin vermilion border, Cryptorchidism, Tetralogy of Fallot, Abnormal nasal morphology	ORPHA:3303
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Mucolipidosis Type Iii Alpha/Beta	Keratan sulfate excretion in urine, Gingival overgrowth, Diastasis recti, Flexion contracture, Ri...	ORPHA:423461
Lethal Osteosclerotic Bone Dysplasia	Retrognathia, Short nose, Gingival fibromatosis, Anteverted nares, Gingival overgrowth, Mandibula...	ORPHA:1832
Acute Interstitial Pneumonia	Atelectasis, Pleural effusion, Bronchiectasis, Respiratory failure, Interlobular septal thickenin...	ORPHA:79126
Hypermethioninemia Due To Adenosine Kinase Deficiency	Pulmonic stenosis, Coarctation of aorta, Secundum atrial septal defect, Skeletal muscle atrophy	OMIM:614300
Oculoauriculofrontonasal Syndrome	Wide nose, Bifid nasal tip, Narrow mouth, Micrognathia, Cleft palate, Broad philtrum, Cleft lip, ...	ORPHA:398156
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Pulmonic stenosis, Short humerus, Absent vertebra, Long philtrum...	OMIM:134780
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Ectopic kidney, Narrow mouth, Cleft upper lip, Micrognathia, Cleft palate, Abnorma...	OMIM:239800
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Renal hypoplasia/aplasia, Hydroureter, Abnormal internal genitalia, Urogenital sinus anomaly, Ana...	ORPHA:2973
Lissencephaly 6 With Microcephaly	Hypoplasia of the corpus callosum, Polymicrogyria, Microlissencephaly, Microcephaly, Simplified g...	OMIM:616212
Peroxisome Biogenesis Disorder 8A (Zellweger)	Ventricular septal defect, Glossoptosis, Hepatomegaly	OMIM:614876
Cardiomyopathy, Familial Hypertrophic, 14	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:613251
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Tracheobronchopathia Osteochondroplastica	Atelectasis, Respiratory insufficiency, Bronchitis, Recurrent pneumonia, Pneumonia, Recurrent res...	ORPHA:3348
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Hypersensitivity pneumonitis, Emphysema, Honeycomb lung, Respiratory tract infection, Bronchiecta...	ORPHA:79127
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Long philtrum, Bicuspid aortic valve, Short 5th finger, Perimembranous ventricular septal defect,...	ORPHA:508498
Nemaline Myopathy 8	Respiratory failure, Dysphagia, Death in infancy	OMIM:615348
Acute Lung Injury	Abnormal pulmonary interstitial morphology, Respiratory failure, Addictive alcohol use, Pneumonia...	ORPHA:178320
Heterotaxy, Visceral, 6, Autosomal	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Right aortic arch, Tot...	OMIM:614779
Charge Syndrome	Anosmia, Absent tibia, Tracheoesophageal fistula, Pulmonic stenosis, Dysplastic tricuspid valve, ...	OMIM:214800
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Hardikar Syndrome	Bilateral cleft palate, Intestinal malrotation, Unilateral cleft lip, Splenomegaly, Bilateral cle...	OMIM:301068
Baller-Gerold Syndrome	Short nose, Aplasia/Hypoplasia of the thumb, Narrow nasal bridge, Aplasia/Hypoplasia of the patel...	ORPHA:1225
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Retrognathia, Hepatomegaly, Hypospadias, Duplicated collecting system, Hypodontia, Vesicoureteral...	OMIM:301056
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum	OMIM:619501
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Chronic bronchitis, Panacinar emphysema	OMIM:613490
Autosomal Recessive Spastic Paraplegia Type 69	Cerebral cortical atrophy, Agenesis of corpus callosum	ORPHA:401830
Mitochondrial Complex I Deficiency, Nuclear Type 18	Hydronephrosis, Hydroureter	OMIM:618240
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Abnormal heart morphology, Protruding tongue	DECIPHER:52
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Thin vermilion border, Short nose, Dextrocardia...	ORPHA:96097
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Narrow palate, High, narrow palate, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:612949
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Hepatomegaly, Abnormal fallopian tube morphology, Abnormal renal morp...	ORPHA:1655
Dilated Cardiomyopathy With Ataxia	3-Methylglutaconic aciduria, Muscular ventricular septal defect, Hypoplasia of penis, Bilateral c...	ORPHA:66634
Mosaic Trisomy 9	Hypoplasia of penis, Intestinal malrotation, Multiple renal cysts, Micromelia, Cryptorchidism, Cl...	ORPHA:99776
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Renal hypoplasia/aplasia, Non-midline cleft of the upper lip, Abnormality of ...	ORPHA:1770
Renal Agenesis	Absent vas deferens, Unilateral renal agenesis, Aplasia/Hypoplasia of the bladder, Bilateral rena...	ORPHA:411709
Adams-Oliver Syndrome 5	Patent foramen ovale, Esophageal varix, Right atrial enlargement, Pulmonic stenosis, Splenomegaly...	OMIM:616028
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:611722
Intellectual Developmental Disorder, Autosomal Recessive 79	Short hallux, Broad nasal tip, Smooth philtrum, Ventricular septal defect, Wide nasal bridge, Thi...	OMIM:620393
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Open bite, High palate, Abnormal dental morphology, Hydronephrosis, Dental...	ORPHA:3079
Cardiomyopathy, Dilated, 1V	Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:613697
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Ragged-red muscle fibers, Stroke-like episode, Myopathy, Left ventricular hypertrophy	OMIM:540000
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Partial anomalous pulmonary venous return, Solitary median maxillary central incisor, Dextrocardi...	OMIM:619657
Arboleda-Tham Syndrome	Lower limb amyotrophy, Bifid nasal tip, Pulmonic stenosis, Lower limb hypertonia, Intestinal malr...	OMIM:616268
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia	OMIM:615228
Craniofacioskeletal Syndrome	Hypospadias, Short philtrum, Interrupted aortic arch, Ventricular septal defect, Choanal atresia,...	OMIM:300712
Heterotaxy, Visceral, 12, Autosomal	Pulmonic stenosis, Discordant atrioventricular connection, Patent foramen ovale, Common atrium, P...	OMIM:619702
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:616081
Bardet-Biedl Syndrome 10	Renal cyst, Renal insufficiency, Hypogonadism	OMIM:615987
46,Xy Sex Reversal 4	Gonadal dysgenesis, Long philtrum, Hypoplastic labia majora, Anteverted nares, High palate, Anal ...	OMIM:154230
Partial Atrioventricular Septal Defect	Abnormal tricuspid valve morphology, Bacterial endocarditis, Coronary sinus enlargement, Transien...	ORPHA:1330
Congenital Heart Defects, Multiple Types, 9	Arteria lusoria, Transposition of the great arteries, Truncus arteriosus, Pulmonary artery atresi...	OMIM:620294
Scimitar Syndrome	Mitral atresia, Hypoplasia of the diaphragm, Abnormal heart morphology, Interrupted inferior vena...	ORPHA:185
Abruzzo-Erickson Syndrome	Abnormal palate morphology, Hypospadias, Cleft palate, Short toe, Malar flattening, Abnormal loca...	ORPHA:921
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Narrow nasal bridge, Elbow flexion contracture, High palate, Vesicoure...	ORPHA:85285
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Hypoplastic sacrum, Microdontia, Ureterocele, Abnormal nasopharynx morphology, Urethral stenosis,...	OMIM:604292
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Image Syndrome	Hypospadias, Micromelia, Hydronephrosis, Hypogonadism, Cryptorchidism, Depressed nasal bridge	ORPHA:85173
Beta-Mercaptolactate Cysteine Disulfiduria	Anteverted nares, High palate, Micromelia, Abnormality of the ureter, Convex nasal ridge, Atrial ...	ORPHA:1035
Serkal Syndrome	Congenital diaphragmatic hernia, Orofacial cleft, Hypospadias, Ventricular septal defect, Pulmoni...	ORPHA:139466
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Tracheal Agenesis	Respiratory insufficiency, Aplasia/Hypoplasia of the lungs	ORPHA:3346
Microcephaly 17, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Microlissencephaly, Simplified gyral pattern, Agenesis of corp...	OMIM:617090
Alg12-Cdg	Biventricular hypertrophy, Muscular ventricular septal defect, Hypospadias, Short philtrum, Recur...	ORPHA:79324
Polycystic Kidney Disease 7	Multiple renal cysts, Renal interstitial fibrosis, Stage 5 chronic kidney disease, Renal insuffic...	OMIM:620056
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Short nose, Transposition of the great ar...	ORPHA:251071
9Q21.13 Microdeletion Syndrome	Abnormal tongue morphology, Downturned corners of mouth, Abnormal heart morphology, Hydronephrosi...	ORPHA:531151
Mitochondrial Complex I Deficiency, Nuclear Type 6	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:618228
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Enlarged kidney, Meckel diverticulum, Short ribs, Cardiomyopathy...	OMIM:312870
C Syndrome	Short nose, Clitoral hypertrophy, Hepatomegaly, Renal cortical cysts, Thick anterior alveolar rid...	OMIM:211750
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Long nose, Short nose, Hypospadias, Aorti...	OMIM:617602
Kury-Isidor Syndrome	Widely spaced teeth, Triangular mouth, Anteverted nares, High palate, Hydronephrosis, Tented uppe...	OMIM:619762
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Clitoral hypertrophy, Hypospadias, Short philtrum, Anteverted nares, High palate, E...	OMIM:616449
Syndromic Diarrhea	Villous atrophy, Gastritis, Hepatomegaly, Polycystic kidney dysplasia, Hypoplasia of the thymus, ...	ORPHA:84064
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Branchiootorenal Syndrome 1	Euthyroid goiter, Renal steatosis, Abnormal renal collecting system morphology, Unilateral renal ...	OMIM:113650
Inverted Duplicated Chromosome 15 Syndrome	Gonadal dysgenesis, Unilateral renal agenesis, Short philtrum, Ventricular septal defect, High pa...	ORPHA:3306
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Hepatomegaly, Polycystic kidney dysplasia, Cardiomyopathy, Scapular winging, E...	ORPHA:26791
Lambert Syndrome	Ventricular septal defect, Wide mouth, Hypospadias, Malar flattening	ORPHA:1296
German Syndrome	Orofacial cleft, High palate, Everted lower lip vermilion, Arthrogryposis multiplex congenita, Ca...	ORPHA:2077
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Short 4th metacarpal, Muscular ventricular septal defect, Short 3rd metacarpal, Intrinsic hand mu...	OMIM:618569
Intellectual Developmental Disorder, X-Linked 91	Short nose, High palate, Short 5th finger, Short foot, Macrodontia, Small hand	OMIM:300577
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Short nose, Ventricular hypertrophy, Tetralogy of Fallot, Long p...	OMIM:300887
Hyperparathyroidism 2 With Jaw Tumors	Parathyroid carcinoma, Renal cortical adenoma, Polycystic kidney dysplasia, Nephrolithiasis, Papi...	OMIM:145001
Aortic Valve Disease 1	Ventricular septal defect, Aortic valve stenosis, Mitral stenosis, Tetralogy of Fallot, Aortic va...	OMIM:109730
Thymic-Renal-Anal-Lung Dysplasia	Renal agenesis, Anal atresia, Ureteral agenesis, Ureteral dysgenesis	OMIM:274265
Amyotrophic Lateral Sclerosis 28	Respiratory failure, Dysphagia	OMIM:620452
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Respiratory failure, Interstitial pneumonitis, Recurrent upper respiratory tract infections	OMIM:620296
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Wide mouth, Left ventricular hypertrophy, Short philtrum, Patent foramen ovale, ...	ORPHA:466791
10Q22.3Q23.3 Microduplication Syndrome	Hypospadias, Abnormality of the philtrum, Abnormality of the dentition, Tetralogy of Fallot, Micr...	ORPHA:276422
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormal palate morphology, Abnormality of the dentition, Carious teeth, Prominent nasal bridge, ...	ORPHA:3270
Robinow Syndrome, Autosomal Dominant 3	Agenesis of permanent teeth, Mesomelia, Long philtrum, Hypoplastic right heart, Triangular mouth,...	OMIM:616894
Recombinant 8 Syndrome	Abnormal oral frenulum morphology, Abnormality of the anus, Small scrotum, Abnormality of the kid...	ORPHA:96167
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Muscular ventricular septal defect, Hypoplastic nasal tip, Hypop...	OMIM:157800
Pseudotrisomy 13 Syndrome	Tricuspid atresia, Dextrocardia, 11 pairs of ribs, Bicornuate uterus, Anal atresia, Cryptorchidis...	OMIM:264480
Heterotaxy, Visceral, 8, Autosomal	Atrial situs ambiguous, Congenitally corrected transposition of the great arteries with ventricul...	OMIM:617205
Intellectual Developmental Disorder, Autosomal Recessive 73	Widely spaced teeth, Thick upper lip vermilion, Patent ductus arteriosus, Ventricular septal defe...	OMIM:619717
Epilepsy, Progressive Myoclonic, 9	Simplified gyral pattern, Agenesis of corpus callosum	OMIM:616540
Cardiomyopathy, Familial Hypertrophic, 10	Left ventricular hypertrophy, Ventricular septal hypertrophy, Hypertrophic cardiomyopathy, Asymme...	OMIM:608758
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Short nose, Widely spaced teeth, Patent foramen ovale, Mandibular prognathia, High palate, Campto...	ORPHA:369891
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Retrognathia, Clitoral hypertrophy, Duodenal ulcer, Ectopic kidn...	OMIM:135900
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Mitral atresia, Ventricular septal defect, Aortic valve atresia	OMIM:614435
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Transposition of the great arteries, Rectovaginal fistula, Antev...	ORPHA:1780
Galloway-Mowat Syndrome 7	Minimal change glomerulonephritis, High palate, Focal segmental glomerulosclerosis, Nephrotic syn...	OMIM:618348
Macdermot-Winter Syndrome	Camptodactyly of finger, Hypoplastic male external genitalia, Hydronephrosis	OMIM:247990
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Absent cupid's bow, Ventricular hypertrophy, Choanal atresia, Celiac disease, Pulmoni...	ORPHA:284169
Rubinstein-Taybi Syndrome 1	Retrognathia, Dental crowding, Premature thelarche, Mitral valve prolapse, Narrow palate, Perimem...	OMIM:180849
Weyers Ulnar Ray/Oligodactyly Syndrome	Hypoplasia of the radius, Solitary median maxillary central incisor, High palate, Finger aplasia,...	OMIM:602418
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Respiratory insufficiency, Respiratory failure, Dysphagia	ORPHA:266
Familial Adenomatous Polyposis 1	Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc...	OMIM:175100
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Renal tubular epithelial necrosis, Dicarboxylic aciduria, High, narrow palate, Hepatomegaly, Myog...	ORPHA:228308
Teebi-Shaltout Syndrome	High, narrow palate, Oligodontia, Narrow mouth, Camptodactyly, Ureteral stenosis, Aortic valve st...	OMIM:272950
Neurooculocardiogenitourinary Syndrome	Patent foramen ovale, Bilateral cryptorchidism, Downturned corners of mouth, Prominent nasal brid...	OMIM:618652
Microphthalmia, Lenz Type	Orofacial cleft, Renal hypoplasia/aplasia, Hydroureter, Hypospadias, Delayed eruption of teeth, A...	ORPHA:568
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Yuan-Harel-Lupski Syndrome	Long philtrum, Wide nose, Aortic root aneurysm, High palate, Smooth philtrum, Bicuspid aortic val...	OMIM:616652
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Short nose, Bicornuate uterus, Intestinal malrotation, Proteinur...	ORPHA:2143
Tarp Syndrome	Hypoplasia of the radius, Meckel diverticulum, Anteverted nares, Subdural hemorrhage, Glossoptosi...	OMIM:311900
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Thin vermilion border, Abnormal palate morphology, Thick lower lip vermilion, Short nose, Antever...	ORPHA:2701
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Mandibular prognathia, Open bite, Microdontia, Tooth age...	ORPHA:1248
Foxp1 Syndrome	Abnormality of the kidney, Retrognathia, Short nose, Mandibular prognathia, Downturned corners of...	ORPHA:391372
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Bifid scrotum, Tracheoesophageal fistula, Abnormal heart morphol...	ORPHA:2745
Zechi-Ceide Syndrome	Thin vermilion border, Short metatarsal, Short philtrum, Wide nose, Mandibular prognathia, Oligod...	ORPHA:217017
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Patent foramen ovale, Left ventricular hypertrophy, Dilated cardiomyopathy, Left ve...	OMIM:619167
X-Linked Intellectual Disability, Nascimento Type	Thin vermilion border, Hypospadias, Low hanging columella, Patent foramen ovale, Vesicoureteral r...	ORPHA:163956
Holt-Oram Syndrome	Abnormal coronary artery origin, Aplasia of the pectoralis major muscle, Pulmonic stenosis, Aplas...	OMIM:142900
Temple-Baraitser Syndrome	Long philtrum, Wide nose, Thick nasal alae, Pulmonic stenosis, Downturned corners of mouth, Wide ...	OMIM:611816
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Mesomelia, Wide mouth, Long philtrum, Short distal phalanx of finger, Abnorm...	ORPHA:1507
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Nabais Sa-De Vries Syndrome, Type 2	Thin vermilion border, Bilateral cleft palate, Anteverted nares, High palate, Micrognathia, Promi...	OMIM:618829
Laubry-Pezzi Syndrome	Perimembranous ventricular septal defect, Patent ductus arteriosus, Subarterial ventricular septa...	ORPHA:99094
Hypotonia, Infantile, With Psychomotor Retardation	Ventricular septal defect, Increased variability in muscle fiber diameter, Open mouth, Cryptorchi...	OMIM:616816
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Retrognathia, Short nose, Enuresis, Broad nasal tip, Malar flattening, Open mouth	OMIM:613670
Ciliary Dyskinesia, Primary, 52	Situs inversus totalis, Transposition of the great arteries, Patent ductus arteriosus, Patent for...	OMIM:620570
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Thin vermilion border, Short nose, Hypospadias, Anteverted nares, Renal agenesis, Renal hypoplasi...	ORPHA:171839
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Left ventricular hypertrophy	ORPHA:444013
Cardiomyopathy, Familial Hypertrophic, 16	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy	OMIM:613838
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Bronchiolitis, Dysphagia, Pulmonary fibrosis	ORPHA:254361
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Rhizomelic Limb Shortening With Dysmorphic Features	Rhizomelia, Patent foramen ovale, Stage 1 chronic kidney disease, Micrognathia, Short thumb, Smoo...	OMIM:618821
Intellectual Developmental Disorder, Autosomal Dominant 73	Retrognathia, Long nose, Everted lower lip vermilion, Broad philtrum, Short philtrum, Anteverted ...	OMIM:620450
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Increased overbite, Cryptorchidism, Ventricular septal defect, Micropenis	OMIM:618504
Pontocerebellar Hypoplasia, Type 4	Respiratory failure, Dysphagia, Death in infancy	OMIM:225753
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Microdontia, Ureterocele, Abnormal nasopharynx morphology, Transverse vaginal septum, Decreased r...	OMIM:129900
Bilateral Striopallidodentate Calcinosis	Microcephaly, Cerebral calcification, Abnormality of neuronal migration	ORPHA:1980
Autosomal Dominant Omodysplasia	Short nose, Rhizomelia, Short 1st metacarpal, Hypoplasia of penis, Bifid scrotum, Short palm, Mic...	ORPHA:93328
Trisomy X	Renal hypoplasia/aplasia, Precocious puberty, Atrial septal defect, Ventricular septal defect, Mu...	ORPHA:3375
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Retrognathia, High, narrow palate, Atrioventricular canal defect...	ORPHA:2409
Zellweger Syndrome	Clitoral hypertrophy, Hepatomegaly, Hypospadias, Ventricular septal defect, High palate, Pyloric ...	ORPHA:912
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Thyroid hypoplasia, Bifid uvula, Broad philtrum, Aplasia of the thymus, Patent foramen ovale, Cho...	OMIM:620186
Penoscrotal Transposition	Penoscrotal transposition, Hypospadias, Abnormal external genitalia, Cardiomyopathy, Abnormality ...	ORPHA:2842
Lissencephaly 7 With Cerebellar Hypoplasia	Agyria, Death in infancy, Microcephaly, Neonatal death, Agenesis of corpus callosum, Lissencephaly	OMIM:616342
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Hepatomegaly, Hypospadias, Polycystic kidney dysplasia, Hypoplastic nipples...	OMIM:614866
Distal Deletion 15Q	Congenital diaphragmatic hernia, Abnormal aortic arch morphology, Double outlet right ventricle w...	ORPHA:1596
Meacham Syndrome	Congenital diaphragmatic hernia, Hypoplasia of penis, Abnormal vagina morphology, Aortic valve st...	ORPHA:3097
Baraitser-Winter Syndrome 1	Retrognathia, Long philtrum, Orofacial cleft, Short nose, Anteverted nares, Aortic valve stenosis...	OMIM:243310
Meckel Syndrome, Type 1	Ambiguous genitalia, male, Intestinal malrotation, Wide mouth, Splenomegaly, Cystic renal dysplas...	OMIM:249000
Pituitary Adenoma 1, Multiple Types	Pituitary growth hormone cell adenoma, Cardiomyopathy, Pituitary prolactin cell adenoma, Pituitar...	OMIM:102200
Immunodeficiency 54	Respiratory insufficiency, Respiratory failure, Recurrent respiratory infections	OMIM:609981
Megalencephaly	Atrial septal defect, Wide nasal bridge, Macroorchidism, Long penis	ORPHA:2477
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Peripheral pulmonary artery stenosis, Ventricular septal defect, Tetralogy of Fallot	OMIM:617992
Pierpont Syndrome	Short finger, Thin vermilion border, Widely spaced teeth, Short nose, Wide nose, Long upper lip, ...	OMIM:602342
22Q11.2 Deletion Syndrome	Abnormal aortic arch morphology, Intestinal malrotation, Multiple renal cysts, Splenomegaly, Long...	ORPHA:567
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Microcephaly, Simplified gyral pattern, Periventricular heterotopia, Partial ag...	OMIM:616171
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Abnormality of the anterior pituitary, Anteverted nares, Everted lower lip vermilion, Pulmonary a...	ORPHA:75389
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Enlarged kidney, Atrioventricular canal defect, Transposition of the great arteries, Dextrocardia...	OMIM:314390
Woods Syndrome	Thin vermilion border, Low hanging columella, Ventricular septal defect, Supernumerary nipple, Wi...	OMIM:615236
Bardet-Biedl Syndrome 16	External genital hypoplasia, Renal cyst, Renal agenesis, Hypogonadism, Renal dysplasia, Stage 5 c...	OMIM:615993
Right Atrial Isomerism	Situs inversus totalis, Transposition of the great arteries, Dextrocardia, Pulmonary artery atres...	OMIM:208530
Staphylococcal Necrotizing Pneumonia	Pneumothorax, Pulmonary pneumatocele, Acute infectious pneumonia, Pleural empyema, Pleural effusi...	ORPHA:36238
Autism Spectrum Disorder Due To Auts2 Deficiency	Retrognathia, Short philtrum, Joint contracture of the 5th finger, Anteverted nares, Prominent na...	ORPHA:352490
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Thick lower lip vermilion, Hypospadias, Dysplastic pulmonary valve, Recurrent urinary tract infec...	OMIM:619103
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Malar flattening, Short 5th finger, Atrial septal defect, Aplasia/Hypoplasia of the fibula, Short...	ORPHA:52056
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Non-midline cleft of the upper lip, Ectopic anus, Cleft palate, Aplasia/Hypoplasia of the radius,...	ORPHA:2476
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Situs inversus totalis, Atrial septal defect, Tetralogy of Fallot	OMIM:601322
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Vacterl/Vater Association	Congenital diaphragmatic hernia, Abnormality of the urethra, Hypospadias, Ectopic kidney, Hypopla...	ORPHA:887
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Narrow nasal ridge, Anteverted nares, Renal cyst, Renal hypoplasia, Ureteral agenesis, Choanal st...	OMIM:236500
16P13.11 Microduplication Syndrome	Transposition of the great arteries, Coarctation of aorta, Tetralogy of Fallot, Atrial septal def...	ORPHA:261243
Niemann-Pick Disease, Type C2	Death in childhood, Respiratory insufficiency, Death in infancy, Dysphagia, Motor stereotypy, Pul...	OMIM:607625
Atrial Septal Defect 2	Atrioventricular canal defect, Dextrocardia, Pulmonic stenosis, Patent ductus arteriosus, Atrial ...	OMIM:607941
Holoprosencephaly 13, X-Linked	Solitary median maxillary central incisor, Duodenal atresia, Patent foramen ovale, Median cleft p...	OMIM:301043
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Coarctation of aorta, Secundum atrial septal...	OMIM:620066
Bronchogenic Cyst	Bronchogenic cyst, Atelectasis, Dysphagia, Abnormal pleura morphology, Pneumonia, Pulmonary cyst	ORPHA:2357
Mosaic Variegated Aneuploidy Syndrome 1	Bifid scrotum, Pulmonic stenosis, Long philtrum, Hypospadias, Triangular mouth, Anteverted nares,...	OMIM:257300
Oculocerebrocutaneous Syndrome	Hypoplasia of the corpus callosum, Orbital encephalocele, Gray matter heterotopia, Agenesis of co...	OMIM:164180
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Perimembranous ventricular septal defect, Hepatomegaly, Cholelithiasis, Pancreatic ...	ORPHA:83617
Epidermodysplasia Verruciformis, Susceptibility To, 2	Squamous cell carcinoma of the skin, Verruca plana	OMIM:618231
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Muscular edema, Pollakisuria, Calf muscle hypertrophy, S...	ORPHA:268
Pituitary Gigantism	Premature pubarche, Mandibular prognathia, Pituitary growth hormone cell adenoma, Hypertrophic ca...	ORPHA:99725
Pyruvate Dehydrogenase E1-Beta Deficiency	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Corticospinal tract hypoplasia, ...	ORPHA:255138
Li-Ghorbani-Weisz-Hubshman Syndrome	Downturned corners of mouth, Prominent nasal bridge, Thick vermilion border, Patent ductus arteri...	OMIM:618974
Meckel Syndrome, Type 4	Renal cyst, Bile duct proliferation, Cleft palate, Atrial septal defect, Ventricular septal defect	OMIM:611134
Meckel Syndrome 12	Anteverted nares, Bilateral renal agenesis, Ureteral hypoplasia, Renal hypoplasia, Micrognathia, ...	OMIM:616258
Cardiocranial Syndrome, Pfeiffer Type	High, narrow palate, Hypospadias, Plantar flexion contracture, Torticollis, Temporomandibular joi...	ORPHA:2872
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Thin vermilion border, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Narrow mouth, ...	ORPHA:1046
Fumarase Deficiency	Perimembranous ventricular septal defect, Bilateral fetal pyelectasis, Anteverted nares, Necrotiz...	OMIM:606812
Meconium Aspiration Syndrome	Pneumothorax, Neonatal asphyxia, Atelectasis, Aspiration pneumonia	ORPHA:70588
Alg9-Cdg	Enlarged kidney, Hypoplasia of the ovary, Low insertion of columella, Abnormal heart morphology, ...	ORPHA:79328
Maternal Hyperthermia-Induced Birth Defects	Microcephaly, Abnormality of neuronal migration	ORPHA:2216
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:613869
Potocki-Lupski Syndrome	Dental malocclusion, Abnormal renal morphology, Patent foramen ovale, Mandibular prognathia, Dent...	OMIM:610883
Microform Holoprosencephaly	Orofacial cleft, Short nose, Solitary median maxillary central incisor, Short philtrum, Hypoplasi...	ORPHA:280200
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Patent foramen ovale, Gingival overgrowth, Protruding tongue, Hydronephrosis, Promine...	OMIM:619179
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Choanal stenosis, Patent ductus arteri...	OMIM:241310
Orofaciodigital Syndrome Xv	Anteverted nares, Midline notch of upper alveolar ridge, Hydronephrosis, Lobulated tongue, Wide n...	OMIM:617127
Orofaciodigital Syndrome Xvii	Retrognathia, High, narrow palate, Renal hypoplasia, Tetralogy of Fallot, Prominent nose, Short m...	OMIM:617926
Williams-Beuren Region Duplication Syndrome	Decreased response to growth hormone stimulation test, Unilateral renal agenesis, Short philtrum,...	OMIM:609757
Hemimegalencephaly	Focal cortical dysplasia, Polymicrogyria, Gray matter heterotopia, Hemimegalencephaly, Abnormal n...	ORPHA:99802
Pleuropulmonary Blastoma	Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma	OMIM:601200
Odontochondrodysplasia 1	Nephronophthisis, Delayed eruption of teeth, Polycystic kidney dysplasia, Short metacarpal, Micro...	OMIM:184260
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Polymicrogyria, Microcephaly, Agenesis of corpus callosum, Lissencephaly	OMIM:614833
Fryns Syndrome	Ureteral duplication, Meckel diverticulum, Bifid scrotum, Intestinal malrotation, Wide mouth, Lon...	OMIM:229850
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Long nose, Wide nose, Low insertion of columella, High palate, Lower limb hypertonia, Dextrotrans...	OMIM:619995
Noonan Syndrome 10	Patent ductus arteriosus, Ventricular septal defect, High palate, Hypertrophic cardiomyopathy, Pu...	OMIM:616564
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,...	ORPHA:454840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Death in childhood, Hydrocephalus, Type II lissencephaly, Agyria, Abnormal cerebral white matter ...	OMIM:613153
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Everted lower lip vermilion, Wide mouth, Transposition of the great arteries, Short philtrum, Cam...	OMIM:280000
Attrv122I Amyloidosis	Cardiac amyloidosis, Stroke, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valv...	ORPHA:85451
Bardet-Biedl Syndrome 4	Abnormality of the kidney, External genital hypoplasia, Abnormality of the dentition, Renal cyst,...	OMIM:615982
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Microdontia, Bifid uvula, Long philtrum, Short distal phalanx of finger, Bicuspid aortic valve, P...	OMIM:612474
Cloacal Exstrophy	Renal hypoplasia/aplasia, Abnormal clitoris morphology, Ectopic kidney, Abnormal fallopian tube m...	ORPHA:93929
Sarcoidosis, Susceptibility To, 2	Pneumothorax, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated b...	OMIM:612387
Emanuel Syndrome	Congenital diaphragmatic hernia, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Intes...	OMIM:609029
Trigonocephaly With Short Stature And Developmental Delay	Broad alveolar ridges, High palate, Convex nasal ridge, Ventricular septal defect, Wide nasal bridge	OMIM:314320
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Short nose, Aganglionic megacolon, Anal stenosis, Vesicoureteral reflux, Anal atresia, Shortening...	OMIM:614749
Lissencephaly Syndrome, Norman-Roberts Type	Hypoplasia of the corpus callosum, Cerebral calcification, Microlissencephaly, Abnormality of neu...	ORPHA:89844
Pulmonary Hypertension, Primary, 5	Right ventricular hypertrophy	OMIM:265400
Lujan-Fryns Syndrome	Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Hypoplasia of the max...	ORPHA:776
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Long philtrum, Unilateral breast hypoplasia, Abnormality of the dentition, Anal atresia, Choanal ...	OMIM:300968
16P12.1P12.3 Triplication Syndrome	Retrognathia, Decreased response to growth hormone stimulation test, Thin vermilion border, Abnor...	ORPHA:485405
Intellectual Developmental Disorder, Autosomal Dominant 21	Thin vermilion border, Incisor macrodontia, Narrow mouth, Coarctation of aorta, Cleft palate, Pat...	OMIM:615502
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy	OMIM:614654
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus, Cleft palate, Malar flattening, Smooth philtrum, Thin upper lip vermilion, Un...	OMIM:611867
Cerebellar-Facial-Dental Syndrome	Limb hypertonia, Foot joint contracture, Anteverted nares, Ascending tubular aorta aneurysm, Vent...	ORPHA:444072
Seizures-Scoliosis-Macrocephaly Syndrome	Abnormality of the kidney, Long philtrum, Atrial septal defect, Cryptorchidism, Bulbous nose	ORPHA:466926
Mosaic Trisomy 14	Hypospadias, Hypoplasia of penis, Anteverted nares, Ectopic anus, High palate, Camptodactyly of f...	ORPHA:1703
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Retrognathia, Hydroureter, Unilateral renal agenesis, Thin lower lip vermilion, Bilateral renal a...	OMIM:619194
Carnitine Palmitoyltransferase Ii Deficiency	Renal tubular epithelial necrosis, Hepatomegaly, Myoglobinuria, Polycystic kidney dysplasia, Red-...	ORPHA:157
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia, Ectopic kidney, Decreased numbers of nephrons, Abnormal heart mo...	OMIM:617641
Primary Ciliary Dyskinesia	Situs inversus totalis, Transposition of the great arteries, Abnormal atrial arrangement, Abnorma...	ORPHA:244
Duane-Radial Ray Syndrome	Pectoralis hypoplasia, Small thenar eminence, Short humerus, Absent thumb, Abnormal nasopharynx m...	OMIM:607323
Paraneoplastic Pemphigus	B-cell lymphoma, Sarcoma, Thymoma	ORPHA:63455
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Anorexia, Irritability, Abnormal fear-induced behavior, Broad-based gait, Hyperactivity, Shufflin...	ORPHA:3077
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Widely spaced teeth, Hypospadias, Narrow mouth, Decreased testic...	OMIM:300978
Distal Duplication 18Q	Short nose, Abnormal female external genitalia morphology, Hypoplasia of penis, Anteverted nares,...	ORPHA:1716
Gabriele-De Vries Syndrome	Thick lower lip vermilion, Facial hypotonia, Patent foramen ovale, High palate, Abnormality of th...	OMIM:617557
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Pseudobulbar paralysis, Abnormal fear-induced behavior, Aggressive behavior	ORPHA:208441
Otopalatodigital Syndrome Type 2	Glossoptosis, Hypoplastic frontal sinuses, Anodontia, Abnormal cardiac septum morphology, Fibular...	ORPHA:90652
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Cerebral atrophy, Partial agenesis of the corpus callosum, Agenesis of corpus callosum	ORPHA:85179
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Perimembranous ventricular septal defect, High palate, Micrognat...	OMIM:618651
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Retrognathia, Short nose, Short philtrum, Dental crowding, Oligodontia, High palate, Scapular win...	OMIM:617061
Mogs-Cdg	Retrognathia, External genital hypoplasia, Hepatomegaly, Wide nose, High palate, Hepatosplenomega...	ORPHA:79330
Li-Fraumeni Syndrome	Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp...	ORPHA:524
Ciliary Dyskinesia, Primary, 28	Respiratory insufficiency due to defective ciliary clearance, Dynein arm defect of respiratory mo...	OMIM:615505
Cranioectodermal Dysplasia 2	Retrognathia, Short ribs, Everted lower lip vermilion, Microdontia, Mesomelia, Splenomegaly, Broa...	OMIM:613610
Familial Hyperaldosteronism Type Iii	Hypercalciuria, Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage, Left ventricular hypertr...	ORPHA:251274
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Corticospinal tract hypoplasia, Hydrocephalus, Agenesis of corpus callosum, ...	OMIM:307000
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Short nose, Non-midline cleft of the upper lip, Anteverted nares...	ORPHA:1915
Vici Syndrome	Atrial septal defect, Everted upper lip vermilion, Wide nose, Cardiomyopathy, High palate, Median...	OMIM:242840
Koolen-De Vries Syndrome	Everted lower lip vermilion, Pulmonic stenosis, Bicuspid aortic valve, Narrow palate, Cryptorchid...	OMIM:610443
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplasia of penis, Ventricular septal defect, Micromelia, Ambiguous genitalia, Cryptorchidism, ...	ORPHA:2772
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Abnormal palate morphology, Hypospadias, Hypoplasia of penis, Anal atresia, Tetralogy of Fallot, ...	ORPHA:1381
Cardiomyopathy, Familial Hypertrophic, 17	Myocardial fibrosis, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:613873
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Ventricular septal defect, Pulmonary artery atresia, Left superior vena cava draining directly to...	OMIM:613759
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure, Dysphagia	OMIM:618637
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Broad secondary alveolar ridge, High palate, Convex nasal ridge, Ventricular septal defect, Wide ...	ORPHA:3369
Surfactant Metabolism Dysfunction, Pulmonary, 5	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Rhizomelia, Short philtrum, Micrognathia, Downturned corners of mouth, Ambiguous genitalia, Ventr...	ORPHA:93267
Kleefstra Syndrome Due To 9Q34 Microdeletion	Short nose, Hypoplasia of penis, Anteverted nares, Vesicoureteral reflux, Conotruncal defect, Abn...	ORPHA:96147
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Enlarged kidney, Hepatomegaly, Renal insufficiency, Tubulointerstitial fibrosis, Polycystic kidne...	OMIM:263200
15q26 overgrowth syndrome	Abnormality of the kidney, Polycystic kidney dysplasia, Mandibular prognathia, Vesicoureteral ref...	DECIPHER:81
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Hypospadias, Low hanging columella, Anteverted nares, Patent foramen ovale, Ventricular septal de...	ORPHA:500159
Gaba-Transaminase Deficiency	Death in childhood, Agenesis of corpus callosum	OMIM:613163
Ciliary Dyskinesia, Primary, 42	Pneumonia, Respiratory insufficiency, Nasal polyposis, Recurrent sinusitis, Bronchiectasis	OMIM:618695
Diamond-Blackfan Anemia 21	Narrow mouth, Micrognathia, Secundum atrial septal defect, Short toe	OMIM:620072
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Thick lower lip vermilion, Facial hypotonia, Thick upper lip vermilion, Nephrocalcinosis, Wide mo...	OMIM:611087
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Fetal Encasement Syndrome	Increased urinary 8-oxo-7,8-dihydroguanosine level, Congenital diaphragmatic hernia, Upper limb u...	OMIM:613630
Symmetrical Thalamic Calcifications	Microcephaly, Cerebral calcification, Abnormality of neuronal migration	ORPHA:1314
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hypoplasia of the ulna, Enlarged kidney, Fibular hypoplasia, Polycystic kidney dysplasia, Short r...	OMIM:613091
Cardiomyopathy, Dilated, 1S	Perimembranous ventricular septal defect, Ebstein anomaly of the tricuspid valve, Pulmonary arter...	OMIM:613426
Noonan Syndrome 11	Hypertrophic cardiomyopathy, Pulmonic stenosis, Thick vermilion border, Atrial septal defect, Bul...	OMIM:618499
Apparent Mineralocorticoid Excess	Stroke, Left ventricular hypertrophy, Nephrocalcinosis, Abnormal urine sodium concentration, Rena...	ORPHA:320
Fabry Disease	Ventricular septal hypertrophy, Urinary mulberry cells, Transient ischemic attack, Proteinuria, L...	OMIM:301500
Chromosome 19Q13.11 Deletion Syndrome, Distal	Retrognathia, Thin vermilion border, Short nose, Solitary median maxillary central incisor, Hypos...	OMIM:613026
Toluene Embryopathy	Thin vermilion border, Short nose, Micrognathia, Hydronephrosis, Smooth philtrum, Abnormal locali...	ORPHA:1920
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Respiratory failure, Pulmonary fibrosis, Nodular pattern on ...	ORPHA:99931
Caudal Regression Syndrome	Aplasia/Hypoplasia of the sacrum, Orofacial cleft, Ureteral duplication, Ectopic kidney, Vesicour...	ORPHA:3027
Craniofacial Dyssynostosis With Short Stature	Hypospadias, Ventricular septal defect, Pyloric stenosis, Malar flattening, Patent ductus arterio...	OMIM:218350
Cockayne Syndrome Type 3	Hepatomegaly, Hydroureter, Unilateral renal agenesis, Premature coronary artery atherosclerosis, ...	ORPHA:90324
Synaptic Congenital Myasthenic Syndromes	Triangular mouth, Mandibular prognathia, High palate, Scapular winging, Facial palsy, Hand muscle...	ORPHA:98915
Transaldolase Deficiency	Abnormality of the kidney, Abnormal clitoris morphology, Coarctation of aorta, Hepatosplenomegaly...	ORPHA:101028
Hepatorenocardiac Degenerative Fibrosis	Enlarged kidney, Tubular luminal dilatation, Hypertrophic cardiomyopathy, Renal cyst, Hyperechoge...	OMIM:619902
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Camptodactyly, Arthrogryposis multiplex congenita, Pulmonic stenosis, Pyloric stenosis, Atrial se...	OMIM:614262
X-Linked Lissencephaly With Abnormal Genitalia	Aganglionic megacolon, Hypoplasia of penis, Ventricular septal defect, Micrognathia, Patent ductu...	ORPHA:452
Humero-Radio-Ulnar Synostosis	Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract, Abnormality of the ureter	ORPHA:3266
Teebi Hypertelorism Syndrome 2	Short nose, Hypospadias, Delayed eruption of teeth, High palate, Everted lower lip vermilion, Mic...	OMIM:619736
Severe Generalized Junctional Epidermolysis Bullosa	Renal tubular epithelial necrosis, Hydroureter, Duplicated collecting system, Erosion of oral muc...	ORPHA:79404
Viss Syndrome	Retrognathia, Pulmonary artery aneurysm, Iliac artery aneurysm, Arterial tortuosity, Coronary sin...	OMIM:619472
Renal Dysplasia, Cystic, Susceptibility To	Vesicoureteral reflux, Hyperechogenic kidneys, Renal dysplasia, Renal insufficiency, Cystic renal...	OMIM:601331
Congenitally Corrected Transposition Of The Great Arteries	Mesocardia, Pulmonic stenosis, Discordant atrioventricular connection, Abnormal heart morphology,...	ORPHA:216694
Diamond-Blackfan Anemia 16	Pulmonic stenosis, Atrial septal defect	OMIM:617408
Congenital Anomalies Of Kidney And Urinary Tract 3	Ectopic kidney, Vesicoureteral reflux, Renal hypoplasia, Hydronephrosis, Multicystic kidney dyspl...	OMIM:618270
Atrial Septal Defect 4	Atrial septal defect, Patent foramen ovale, Coarctation of aorta	OMIM:611363
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Esophageal atresia, Anteverted nares, Choanal atresia, Micrognathia, Cleft palate, Ma...	OMIM:610536
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Short metacarpal, Short humerus, Muscular ventricular septal defect, Short philtrum, Polycystic k...	OMIM:210710
Aortic Aneurysm, Familial Thoracic 10	Fusiform ascending tubular aorta aneurysm, Coronary artery atherosclerosis, Aortic root aneurysm,...	OMIM:617168
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma	OMIM:613736
White-Kernohan Syndrome	Retrognathia, Short nose, Hydroureter, Rectovaginal fistula, Anteverted nares, Underdeveloped nas...	OMIM:619426
Takenouchi-Kosaki Syndrome	Widely spaced teeth, Hypospadias, Unilateral renal agenesis, Short philtrum, Flared nostrils, Cam...	OMIM:616737
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Left superior vena cava draining to coronary sinus, High, narrow palate, Hypospadia...	ORPHA:464738
20P12.3 Microdeletion Syndrome	Narrow mouth, Hypoplasia of the maxilla, Malar flattening, Long philtrum, Atrial septal defect, W...	ORPHA:261295
Carey-Fineman-Ziter Syndrome	Thin vermilion border, Aplasia of the pectoralis major muscle, Short nose, Glandular hypospadias,...	ORPHA:1358
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic root aneurysm, Abnormal heart valve morphology, Dental crowding, Tendon thickening, High p...	ORPHA:230851
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal basal ganglia morphology, Abnormal ...	ORPHA:255182
Kapur-Toriello Syndrome	Joint contracture of the hand, Low hanging columella, Abnormality of the urinary system, Cryptorc...	OMIM:244300
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Atrioventricular canal defect, Abnormal bladder morphology, Vesicoureteral reflux, Ventricular se...	ORPHA:453499
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb hypertonia, Patent foramen ovale, Hydronephrosis, Limb joint contracture, Patent ductus arte...	OMIM:620327
Developmental And Epileptic Encephalopathy 71	Respiratory insufficiency, Respiratory failure	OMIM:618328
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Short philtrum, Abnormality of the dentition, Cleft palate, Prominent nasal bridge, Smooth philtr...	ORPHA:261190
C1Q Deficiency 2	Bronchiectasis, Atelectasis, Recurrent lower respiratory tract infections	OMIM:620321
Tetraploidy	Renal hypoplasia/aplasia, Short philtrum, Micrognathia, Cleft palate, Hydronephrosis, Convex nasa...	ORPHA:3305
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Long philtrum, Short nose, Downturned corners of mouth, Abnormal heart morphology, Cleft palate, ...	OMIM:618571
Intellectual Disability-Strabismus Syndrome	Congenital diaphragmatic hernia, Short nose, Decreased response to growth hormone stimulation tes...	ORPHA:363528
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Small pituitary gland, Dental crowding, Thyroid hypoplasia, Unicornuate uterus, Agenesis of perma...	OMIM:619503
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Abnormal vena cava morphology, Ventricular septal defect, Short metacarpal, Renal cyst, Micrognat...	ORPHA:166035
Congenital Heart Defects, Multiple Types, 2	Myxomatous mitral valve degeneration, Aortic aneurysm, Aortic valve stenosis, Tetralogy of Fallot...	OMIM:614980
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Ragged-red muscle fibers, EMG: myopathic abnormalities, Hypertrophic cardiomyopathy, Achilles ten...	OMIM:615418
Neurofibromatosis-Noonan Syndrome	Pulmonic stenosis, Secundum atrial septal defect, Thick vermilion border, Malar flattening, Crypt...	OMIM:601321
Scedosporiosis	Pleuritis, Bronchitis, Pleural empyema, Pulmonary fibrosis, Pneumonia, Respiratory failure	ORPHA:449280
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Subaortic ventricular septal bulge, Hypertrophic cardiomyopathy, Left ventr...	OMIM:612098
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Vascular ring, Broad nasal tip, Patent ductus arteriosus, Overriding aorta, Atrial septal defect,...	OMIM:601927
Bardet-Biedl Syndrome 12	Hydrometrocolpos, Hydroureter, Hydronephrosis, Hypogonadism, Vaginal atresia, Cystic renal dysplasia	OMIM:615989
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Ureteral triplication, High palate, Absent nipple, Hydronephrosis, Mitral valve prolapse, Patent ...	OMIM:104350
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Patent foramen ovale, Renal cyst, Abnormal coro...	ORPHA:488618
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Hypoplasia of penis, Camptodactyly of finger, Micrognathia, Hydronephrosis, Prominent...	ORPHA:2083
Pallister-Hall-Like Syndrome	Short nose, Anterior hypopituitarism, Short ribs, Micromelia, Micrognathia, Cleft palate, Depress...	OMIM:241800
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomyopathy, Nephrotic syndrome, Left ventricular hypertrophy, Cardiomegaly, Myo...	OMIM:617713
Tangier Disease	Hepatomegaly, Coronary artery atherosclerosis, Distal amyotrophy, Facial diplegia, Splenomegaly, ...	OMIM:205400
Chime Syndrome	Pulmonary valve atresia, Abnormality of the kidney, Transposition of the great arteries, Supernum...	ORPHA:3474
Hypophosphatasia	Respiratory insufficiency, Emphysema	ORPHA:436
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Retrognathia, Short nose, High palate, Nephrocalcinosis, Limb undergrowth, Joint contracture, Pat...	OMIM:618005
Stickler Syndrome Type 1	Short nose, Hypoplasia of the maxilla, Cleft palate, Mitral valve prolapse, Long philtrum	ORPHA:90653
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Short nose, Aganglionic megacolon, Short philtrum, Abnormal renal morphology, Mandibular prognath...	OMIM:239300
Char Syndrome	Triangular mouth, Short philtrum, Short middle phalanx of the 5th finger, Everted lower lip vermi...	ORPHA:46627
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Anteverted nares, Cryptorchidism, Abnormal oral frenulum morphology, Intestinal malrotation, Micr...	ORPHA:404440
Pentalogy Of Cantrell	Congenital diaphragmatic hernia, Orofacial cleft, Hypospadias, Non-midline cleft of the upper lip...	ORPHA:1335
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal respiratory distress, Neonatal death, Pulmonary hypoplasia	OMIM:619003
Lymphatic Malformation 12	Pleural thickening, Death in adolescence, Recurrent upper and lower respiratory tract infections,...	OMIM:620014
Structural Heart Defects And Renal Anomalies Syndrome	Tricuspid atresia, Interrupted aortic arch, Right aortic arch, Truncus arteriosus, Renal cyst, Te...	OMIM:617478
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Congenital diaphragmatic hernia, Bicuspid aortic valve, Long philtrum, Rhizomelia, 11 pairs of ri...	OMIM:245600
Leukemia, Acute Lymphoblastic	Acute lymphoblastic leukemia	OMIM:613065
Leukemia, Acute Monocytic	Acute monocytic leukemia	OMIM:151380
Leukemia, Acute Myeloid	Acute myeloid leukemia	OMIM:601626
Melnick-Needles Syndrome	Craniofacial hyperostosis, Delayed eruption of teeth, Tooth malposition, Short clavicles, Vesicou...	ORPHA:2484
Combined Oxidative Phosphorylation Deficiency 8	Death in childhood, Pulmonary hypoplasia, Neonatal death, Death in infancy	OMIM:614096
Severe X-Linked Intellectual Disability, Gustavson Type	Short nose, Vesicoureteral reflux, Ventricular septal defect, Micrognathia, Recurrent upper respi...	ORPHA:3078
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Developmental And Epileptic Encephalopathy 66	Widely spaced teeth, Dextrocardia, Ventricular septal defect, Everted lower lip vermilion, Downtu...	OMIM:618067
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Intestinal malrotation, Hydroureter, Fetal megacystis	OMIM:249210
Methimazole Embryofetopathy	Hypospadias, Esophageal atresia, Abnormal aortic morphology, Choanal atresia, Tracheoesophageal f...	ORPHA:1923
Khan-Khan-Katsanis Syndrome	Short nose, Ureteral duplication, Triangular mouth, Patent foramen ovale, Vesicoureteral reflux, ...	OMIM:618460
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Long nose, Short philtrum, Narrow nasal bridge, Dental crowding, Ascending tubular aorta aneurysm...	OMIM:309520
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Narrow palate, High palate, Congenital diaphrag...	OMIM:200980
Musculocontractural Ehlers-Danlos Syndrome	Short nose, Abnormal heart valve morphology, High palate, Nephrolithiasis, Narrow mouth, Arthrogr...	ORPHA:2953
3P25.3 Microdeletion Syndrome	Pulmonic stenosis, Short philtrum, Coronary artery atherosclerosis, Anteverted nares, Cleft palat...	ORPHA:435638
Adams-Oliver Syndrome 6	Esophageal varix, Truncus arteriosus, Renal hypoplasia, Foot oligodactyly, Splenomegaly, Ventricu...	OMIM:616589
Encephalocraniocutaneous Lipomatosis	Pelvic kidney, Ventricular septal defect, Hydronephrosis, Atrial septal defect, Cryptorchidism, P...	OMIM:613001
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Hypospadias, Anteverted nares, Cardiomyopathy, Short palm, Micrognathia, Cleft palate...	OMIM:217980
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Hematuria, Micrognathia, Natal tooth, Depressed nasal bridge, Proteinuria, Ventricular septal def...	OMIM:616901
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Carcinoma, Carcinoid tumor, Pituitary adenoma, Parathyroid adenoma, R...	OMIM:610755
Diphallia	Penoscrotal transposition, Epispadias, Renal malrotation, Ureteral duplication, Bifid penis, Hypo...	ORPHA:227
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Thick lower lip vermilion, Widely spaced teeth, Delayed eruption of teeth, Hydronephrosis, Patent...	OMIM:619797
Joubert Syndrome 39	Joint contracture of the 5th finger, Polycystic kidney dysplasia, Hypoplastic left heart	OMIM:619562
Polyvalvular Heart Disease Syndrome	Short philtrum, Abnormal heart valve morphology, Dental crowding, High palate, Pulmonic stenosis,...	ORPHA:228410
Nephronophthisis 20	Nephronophthisis, Vesicoureteral reflux, Renal cyst, Stage 5 chronic kidney disease, Renal insuff...	OMIM:617271
Tarp Syndrome	Anteverted nares, Glossoptosis, Tongue nodules, Short sternum, Micrognathia, Hydronephrosis, Tetr...	ORPHA:2886
Meacham Syndrome	Enlarged kidney, Bicuspid aortic valve, Septate vagina, Blind vagina, Transposition of the great ...	OMIM:608978
Bladder Exstrophy And Epispadias Complex	Epispadias, Bifid clitoris, Hydroureter, Unilateral renal agenesis, Bladder exstrophy, Anteriorly...	OMIM:600057
Frontoocular Syndrome	Narrow philtrum, High palate, Narrow mouth, Pulmonic stenosis, Micrognathia, Prominent nasal brid...	OMIM:605321
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Orofacial cleft, Coarctation of aorta, Hamartoma of tongue, Subvalvular aortic stenosis, Complete...	OMIM:217085
Congenital Myopathy 10A, Severe Variant	Respiratory insufficiency, Respiratory failure, Dysphagia	OMIM:614399
Al-Raqad Syndrome	Short nose, Atrial septal defect, Narrow mouth, Thin upper lip vermilion	OMIM:616459
Mandibulofacial Dysostosis-Microcephaly Syndrome	Short nose, Accessory oral frenulum, Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar...	ORPHA:79113
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Short clavicles, Vesicoureteral reflux, Cryptorchidism, Coarctation of aorta...	OMIM:617159
Mandibuloacral Dysplasia Progeroid Syndrome	Hepatomegaly, Short philtrum, Hypodontia, Narrow nasal ridge, Patent foramen ovale, Intra-oral hy...	OMIM:619127
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, Generalized limb muscle atrophy, High palate, Micrognathia, Long philtrum, Myopathy	ORPHA:2598
Acrocephalopolydactyly	Short nose, Abnormal renal morphology, Depressed nasal ridge, Limb undergrowth, Hepatosplenomegaly	ORPHA:221054
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Wide nasal bridge, Renal cyst	OMIM:614870
ERI1-related disease	Vesicoureteral reflux, High palate, Micrognathia, Abnormal heart morphology, Limb undergrowth, Hy...	OMIM:608739
Hypomandibular Faciocranial Dysostosis	Short nose, Anteverted nares, Maxillozygomatic hypoplasia, Narrow mouth, Bifid uvula, Cleft palat...	ORPHA:1790
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short metacarpal, Renal cyst, Micrognathia, Broad columella, Thick vermilion border, Short distal...	OMIM:250410
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Specc1L-Related Hypertelorism Syndrome	Orofacial cleft, Advanced eruption of teeth, Thin vermilion border, Short nose, Ectopic kidney, V...	ORPHA:1519
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Ohdo Syndrome	Long philtrum, Thin vermilion border, Widely spaced teeth, Short nose, Anteverted nares, Narrow m...	OMIM:249620
Robinow Syndrome, Autosomal Recessive 2	Long philtrum, Short nose, Triangular mouth, Cleft soft palate, Anteverted nares, Gingival overgr...	OMIM:618529
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Narrow palate, Contracture of the proximal interphalangeal joint of the 4th finger, Decreased res...	OMIM:618223
Joubert Syndrome 30	Polymicrogyria, Gray matter heterotopia, Agenesis of corpus callosum	OMIM:617622
Coffin-Siris Syndrome 5	Thick lower lip vermilion, Short philtrum, Wide nose, Thick nasal alae, Wide mouth, Short distal ...	OMIM:616938
3-Hydroxyisobutyric Aciduria	Microcephaly, Abnormality of neuronal migration, Congenital intracerebral calcification	OMIM:236795
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Atrial septal defect, Premature thelarche, Nodular goiter, Coarctation of aorta, Mitral valve pro...	ORPHA:371428
Tyshchenko Syndrome	Narrow palate, High, narrow palate, Ventricular septal defect, High palate, Pulmonic stenosis, Cl...	OMIM:615102
17P13.3 Microduplication Syndrome	Short nose, Wide nose, Hypoplasia of penis, Narrow mouth, High palate	ORPHA:217385
Mucolipidosis Iv	Microcephaly, Cerebral dysmyelination, Dysplastic corpus callosum	OMIM:252650
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Orofacial cleft, Thick lower lip vermilion, Renal cortical cysts...	ORPHA:1692
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Hypospadias, Short philtrum, Interrupted aortic arch, Choanal atresia, Cryptorchidism, Overhangin...	ORPHA:163979
Oeis Complex	Ambiguous genitalia, male, Intestinal malrotation, Absence of the sacrum, Labial hypoplasia, Pelv...	OMIM:258040
Amyloidosis, Finnish Type	Cardiac amyloidosis, Cardiomyopathy, Nephrotic syndrome, Urolithiasis, Renal glomerular amyloid d...	OMIM:105120
Joubert Syndrome 37	Hepatomegaly, Wide nose, Anteverted nares, High palate, Decreased testicular size, Hydronephrosis...	OMIM:619185
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Dental crowding, Microdontia, Agenesis of permanent teeth, Long philtrum, External genital hypopl...	ORPHA:251028
Coffin-Siris Syndrome 6	Retrognathia, High, narrow palate, Short philtrum, Micrognathia, Cleft palate, Broad nasal tip, D...	OMIM:617808
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Meckel diverticulum, Aplasia of the uterus, Bilateral radial aplasia, Absen...	OMIM:274000
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Short nose, Facial hypotonia, Dental crowding, Patent foramen ovale, High palate, Narrow mouth, C...	OMIM:615539
Kabuki Syndrome	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Hypoplasia of penis, Microdontia, Shor...	ORPHA:2322
King-Denborough Syndrome	Type 1 muscle fiber predominance, Low hanging columella, High palate, Ventricular septal defect, ...	OMIM:619542
Faciocardiorenal Syndrome	Tricuspid valve prolapse, Narrow mouth, Cleft palate, Smooth philtrum, Hypodontia, Wide nasal bri...	ORPHA:1973
Trisomy 8P	Retrognathia, Nephrocalcinosis, Bifid uvula, Malrotation of small bowel, Anteverted nares, Short ...	ORPHA:264450
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Opitz Gbbb Syndrome	Rectourethral fistula, Solitary median maxillary central incisor, Hypospadias, Anteverted nares, ...	OMIM:300000
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Stroke, Se...	ORPHA:1478
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Thin vermilion border, Anteverted nares, Ventricular septal defect, Hypertrophic ca...	OMIM:612938
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Coarctation of aorta, Hydronephrosis, Micrognathia, Bifid uvula, Cleft palate, Pier...	OMIM:614921
Rhiny	Thin vermilion border, Short nose, Anteverted nares	OMIM:180360
Thiamine-Responsive Megaloblastic Anemia Syndrome	Situs inversus totalis, Stroke, Cardiomyopathy, Cryptorchidism, Atrial septal defect, Ventricular...	OMIM:249270
Adenylosuccinate Lyase Deficiency	Short nose, Anteverted nares, Smooth philtrum, Long philtrum, Thin upper lip vermilion	ORPHA:46
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Wrist flexion contracture, Short humerus, Absent thumb, Narrow naris, Absen...	OMIM:268300
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic...	ORPHA:40366
Kapur-Toriello Syndrome	Orofacial cleft, Hypoplasia of penis, Intestinal malrotation, Tetralogy of Fallot, Patent ductus ...	ORPHA:2328
Atelis Syndrome 1	High palate, Prominent nose, Carious teeth, Long philtrum, Atrial septal defect, Ventricular sept...	OMIM:620184
Chand Syndrome	Hydroureter, Agenesis of maxillary incisor, Short fifth metatarsal, Imperforate hymen, Abnormal o...	ORPHA:1401
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Hepatomegaly, Recurrent urinary tract infections, Coarctation of aorta, Cleft palate, Splenomegal...	OMIM:620210
Diprosopus	Abnormality of the nose, Non-midline cleft of the upper lip, Cleft palate, Abnormal cardiac septu...	ORPHA:1681
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Absent toe, Vesicoureteral reflux, High palate, Finger aplasia, Short palm, Micrognathia, Hydrone...	OMIM:620663
Frontonasal Dysplasia 1	Joint contracture of the hand, Short columella, Pectoral muscle hypoplasia/aplasia, Bifid nasal t...	OMIM:136760
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Vesicoureteral reflux, High palate, Ankyloglossia, Bulbous nose, Hydrone...	ORPHA:250989
Chiari Malformation Type Ii	Cervical myelopathy, Hydrocephalus, Gray matter heterotopia, Myelomeningocele, Spina bifida, Agen...	OMIM:207950
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Bilateral cleft palate, Amelia, Cleft upper lip, Foot oligodactyly, Short femur, V...	OMIM:601357
Chops Syndrome	Short nose, High, narrow palate, Anteverted nares, Patent foramen ovale, Vesicoureteral reflux, V...	OMIM:616368
Potocki-Shaffer Syndrome	Short nose, Short philtrum, Downturned corners of mouth, Micropenis, Wide nasal bridge, Underdeve...	OMIM:601224
Fadd-Related Immunodeficiency	Ventricular septal defect, Pulmonary artery atresia	ORPHA:306550
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Bardet-Biedl Syndrome 2	External genital hypoplasia, Hypogonadism, Bicuspid aortic valve, Atrial septal defect, Dilated c...	OMIM:615981
Chromosome 5Q12 Deletion Syndrome	Short philtrum, Low hanging columella, Patent foramen ovale, Prominent nose, Micrognathia, Wide m...	OMIM:615668
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Polycystic kidney dysplasia, Hepatic cysts, Stage 5 chronic...	OMIM:618061
Microcephaly 3, Primary, Autosomal Recessive	Small cerebral cortex, Microcephaly, Simplified gyral pattern, Primary microcephaly, Partial agen...	OMIM:604804
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery	OMIM:600666
Cerebrocostomandibular Syndrome	Ectopic kidney, Glossoptosis, Short humerus, Long philtrum, 10 pairs of ribs, Elbow flexion contr...	OMIM:117650
X-Linked Intellectual Disability, Hedera Type	Hypomimic face, Left ventricular hypertrophy	ORPHA:93952
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Polycystic kidney dysplasia, Short ribs, Missing ribs, Micromelia, Intestinal malrotation, Microg...	OMIM:617866
Emanuel Syndrome	Congenital diaphragmatic hernia, Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Bifid...	ORPHA:96170
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nose, Abnormal nasal bone morphology, Bifid nasal tip, Choanal atresia, Downturned corners o...	ORPHA:521308
Joubert Syndrome 14	Short philtrum, Renal cyst, Cleft palate, Prominent nasal bridge, Malar flattening, Intracranial ...	OMIM:614424
Chromosome 17Q12 Deletion Syndrome	Retrognathia, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus, Ovarian cyst, Ure...	OMIM:614527
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory failure	ORPHA:70578
Coenzyme Q10 Deficiency, Primary, 7	Ventricular septal defect, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Hypoplastic lef...	OMIM:616276
Multiple Acyl-Coa Dehydrogenase Deficiency	Glutaric aciduria, Hepatomegaly, Generalized aminoaciduria, Renal cortical cysts, Polycystic kidn...	OMIM:231680
Familial Congenital Mirror Movements	Abnormal corticospinal tract morphology, Agenesis of corpus callosum	ORPHA:238722
Congenital Arthrogryposis With Anterior Horn Cell Disease	Respiratory failure, Respiratory insufficiency due to muscle weakness, Neonatal death	OMIM:611890
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	3-Methylglutaconic aciduria, Short nose, Lower limb amyotrophy, Mandibular prognathia, Hypertroph...	ORPHA:496790
Mesomelia-Synostoses Syndrome	High, narrow palate, Aplasia/Hypoplasia of the uvula, Narrow mouth, Micromelia, Abnormal oral fre...	ORPHA:2496
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Hypoplasia of the corpus callosum, Death in childhood, Encephalocele, Hydrocephalus, Polymicrogyr...	OMIM:614643
Lessel-Kreienkamp Syndrome	Dental malocclusion, Patent foramen ovale, Pulmonic stenosis, Open mouth, Patent ductus arteriosu...	OMIM:619149
Noonan Syndrome 12	Decreased response to growth hormone stimulation test, 11 pairs of ribs, Tetralogy of Fallot, Ven...	OMIM:618624
Ciliary Dyskinesia, Primary, 30	Absent outer dynein arms, Respiratory insufficiency due to defective ciliary clearance, Respirato...	OMIM:616037
16P13.11 Microdeletion Syndrome	Short nose, Anteverted nares, Exaggerated cupid's bow, Ventricular septal defect, Cleft upper lip...	ORPHA:261236
Vici Syndrome	Renal tubular acidosis, High palate, Cardiomyopathy, Depressed nasal tip, Ureteral atresia	ORPHA:1493
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Vesicoureteral reflux, Micrognathia, Hydronephrosis, Cleft palate, Arthrogryposis m...	OMIM:618265
Craniosynostosis, Herrmann-Opitz Type	Short nose, Abnormality of the upper urinary tract, Micromelia, Micrognathia, Cleft palate, Malar...	ORPHA:2145
Coffin-Siris Syndrome	Wide nasal base, Abnormal heart morphology, Wide mouth, Broad philtrum, Short 5th finger, Hypospa...	ORPHA:1465
Immunodeficiency, Common Variable, 6	Enlarged kidney, Hepatomegaly, Nephrotic range proteinuria, Mesangial Immune complex deposition, ...	OMIM:613496
Microphthalmia, Syndromic 2	Bifid nasal tip, Pulmonic stenosis, Aortic valve stenosis, Bifid uvula, Mitral valve prolapse, Lo...	OMIM:300166
Facial Paresis, Hereditary Congenital, 3	Short nose, Short philtrum, Anteverted nares, High palate, Facial palsy, Downturned corners of mo...	OMIM:614744
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Ectopic kidney, Abnormal renal morphology, Malrotation of colon,...	OMIM:122470
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Nephroblastoma, Ventricular septal defect, Depressed nasal bridge, Smooth philtrum	OMIM:602501
Lambotte Syndrome	Convex nasal ridge, Retrognathia, Ventricular septal defect, Narrow mouth	OMIM:245552
Trisomy 18	Narrow palate, Congenital diaphragmatic hernia, Short nose, Esophageal atresia, Non-midline cleft...	ORPHA:3380
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Abnormal renal morphology, Patent foramen ovale, Ventricular septal defect, Bulbous nose, Downtur...	ORPHA:329224
Aicardi-Goutieres Syndrome 9	Hepatomegaly, Glomerular sclerosis, Renal insufficiency, Recurrent urinary tract infections, Thic...	OMIM:619487
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Abnormality of the kidney, Retrognathia, Aplasia/hypoplasia of the femur, Hydroureter, Long nose,...	ORPHA:2636
Clark-Baraitser Syndrome	Short nose, Short philtrum, Low hanging columella, Anteverted nares, Exaggerated cupid's bow, Hig...	OMIM:617752
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Mesocardia, Aplasia of the uterus, Bifid scrotu...	OMIM:618280
Congenital Heart Defects, Multiple Types, 3	Persistent left superior vena cava, Atrial septal defect, Abnormal heart morphology, Tetralogy of...	OMIM:614954
Grange Syndrome	Short palm, Ventricular septal defect, Arterial stenosis, Patent ductus arteriosus	ORPHA:79094
Pancreatic And Cerebellar Agenesis	Pancreatic hypoplasia, Pancreatic aplasia, Secundum atrial septal defect, Flexion contracture, Co...	OMIM:609069
Down Syndrome	Atrioventricular canal defect, Aganglionic megacolon, Patent ductus arteriosus, Patent foramen ov...	OMIM:190685
Legius Syndrome	Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Nephro...	ORPHA:137605
Brachydactyly, Type B1	Hypoplastic sacrum, Camptodactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Short ...	OMIM:113000
Roberts Syndrome	Hypoplasia of the radius, Clitoral hypertrophy, Mesomelic arm shortening, Long penis, Aplasia/Hyp...	ORPHA:3103
Mckusick-Kaufman Syndrome	Transverse vaginal septum, Hydrometrocolpos, Aganglionic megacolon, Hydroureter, Rectovaginal fis...	OMIM:236700
Tatton-Brown-Rahman Syndrome	Thin vermilion border, Everted upper lip vermilion, Anteverted nares, Exaggerated cupid's bow, Ve...	OMIM:615879
Biliary, Renal, Neurologic, And Skeletal Syndrome	Inlet ventricular septal defect, Everted lower lip vermilion, Dark urine, Splenomegaly, Stage 5 c...	OMIM:619534
Orofaciodigital Syndrome V	Aganglionic megacolon, Hamartoma of tongue, High palate, Ankyloglossia, Unilateral cryptorchidism...	OMIM:174300
Bor Syndrome	Retrognathia, Renal hypoplasia/aplasia, Renal insufficiency, Vesicoureteral reflux, Facial palsy,...	ORPHA:107
Seckel Syndrome 9	Congenital diaphragmatic hernia, Convex nasal ridge, Clitoral hypertrophy, Recurrent urinary trac...	OMIM:616777
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Hypoplasia of right ventricle, Congenital diaphragmatic hernia, Transposition of the great arteri...	ORPHA:2255
Aminopterin/Methotrexate Embryofetopathy	Situs inversus totalis, Aplasia/Hypoplasia of the thumb, Non-midline cleft of the upper lip, Mand...	ORPHA:1908
Chromosome 14Q11-Q22 Deletion Syndrome	Short nose, Renal tubular acidosis, Anterior pituitary hypoplasia, Patent foramen ovale, Ventricu...	OMIM:613457
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short nose, Urinary incontinence, Dental crowding, Eruption failure, High palate, Abnormality of ...	ORPHA:476126
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Vesicoureteral reflux, Aortic valve stenosis, Renal hypoplasia, Submucous cleft hard palate, Mitr...	OMIM:617660
Wiedemann-Rautenstrauch Syndrome	Narrow nasal ridge, Hypoplastic facial bones, Short humerus, Long philtrum, Narrow nose, Hypospad...	OMIM:264090
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Mesomelia, Wide mouth, Long philtrum, Short distal phalanx of finger, Triangular...	OMIM:616331
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, High palate, Bilateral cryptorchidism, Micrognathia, Broad nasal tip, Prominent nasal...	OMIM:613544
Robinow Syndrome, Autosomal Recessive 1	Retrognathia, Hypoplastic sacrum, Mesomelic arm shortening, Dental crowding, Tooth agenesis, Abno...	OMIM:268310
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Long nose, 11 pairs of ribs, Hypospadias, Dental crowding, Patent foramen ovale, Oligodontia, Sho...	OMIM:619184
Isolated Klippel-Feil Syndrome	Renal hypoplasia/aplasia, Congenital muscular torticollis, Ectopic anus, Anal atresia, Cleft pala...	ORPHA:2345
3Q29 Microdeletion Syndrome	Orofacial cleft, Short nose, Horseshoe kidney, Hypospadias, Short philtrum, Dental crowding, High...	ORPHA:65286
Glioma Susceptibility 3	Acute myeloid leukemia, Medulloblastoma, Astrocytoma, B Acute Lymphoblastic Leukemia, Glioblastom...	OMIM:613029
Chung-Jansen Syndrome	Thin vermilion border, Short nose, Short philtrum, Anteverted nares, High palate, Micrognathia, L...	OMIM:617991
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia, Dysphagia	ORPHA:171430
Proboscis Lateralis	Abnormal ethmoid bone morphology, Orofacial cleft, External genital hypoplasia, Abnormal facial s...	ORPHA:141099
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Abnormality of the kidney, Widely spaced teeth, Enuresis, Camptodactyly, Aortic valve stenosis, M...	ORPHA:459061
Okamoto Syndrome	Urinary incontinence, Aortic valve stenosis, Abnormal mitral valve morphology, Intestinal malrota...	ORPHA:2729
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Short nose, Bicornuate uterus, Intestinal malrotation, Short ste...	OMIM:222448
Oculoauriculovertebral Spectrum With Radial Defects	Short mandibular rami, Orofacial cleft, Renal hypoplasia/aplasia, Atrioventricular canal defect, ...	ORPHA:2549
Meier-Gorlin Syndrome 7	Clitoral hypertrophy, Anal stenosis, Hypospadias, Breast aplasia, Aplasia/Hypoplasia of the patel...	OMIM:617063
Fontaine Progeroid Syndrome	Retrognathia, Everted lower lip vermilion, Microdontia, Abnormal heart morphology, Left ventricul...	OMIM:612289
Hand-Foot-Genital Syndrome	Hypospadias, Short first metatarsal, Short hallux, Shortening of all middle phalanges of the fing...	ORPHA:2438
Axial Mesodermal Dysplasia Spectrum	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Gingival overgrowth, Abnormal intestin...	ORPHA:1834
Congenital Megacalycosis	Enlarged kidney, Hematuria, Dilatation of renal calices, Recurrent urinary tract infections, Neph...	ORPHA:93109
Acrocallosal Syndrome	Everted upper lip vermilion, Pulmonary valve defects, Abnormal oral frenulum morphology, Bifid uv...	OMIM:200990
Autosomal Dominant Polycystic Kidney Disease	Enlarged kidney, Dilatation of the cerebral artery, Hematuria, Decreased glomerular filtration ra...	ORPHA:730
Acrocardiofacial Syndrome	Hypospadias, Hypoplasia of penis, Truncus arteriosus, Ventricular septal defect, Anal atresia, Cl...	ORPHA:2008
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Short philtrum, Anteverted nares, Phimosis, Narrow mouth, Chordee, Secundum atrial septal defect,...	OMIM:620455
Fg Syndrome 5	Short nose, Hypospadias, Anteverted nares, Long philtrum, Diastema, Depressed nasal bridge	OMIM:300581
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Short nose, Slender nose, Micrognathia, Joint contracture, Wide mouth, Skeletal muscle atrophy, S...	OMIM:615419
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Facial hypotonia, Nephrocalcinosis, Wide mouth, Tented upper lip vermilion, Open mouth, Decreased...	ORPHA:500533
Microcephaly 10, Primary, Autosomal Recessive	Cerebral atrophy, Reduced cerebral white matter volume, Simplified gyral pattern, Agenesis of cor...	OMIM:615095
Roifman Syndrome	Hepatomegaly, Noncompaction cardiomyopathy, Anteverted nares, Underdeveloped nasal alae, Short me...	OMIM:616651
Bardet-Biedl Syndrome 17	Situs inversus totalis, Polyuria, Dextrocardia, Hyposmia, Anosmia, Renal cyst, Short fourth metat...	OMIM:615994
Bardet-Biedl Syndrome 1	Abnormality of the kidney, High, narrow palate, Aganglionic megacolon, Dental crowding, High pala...	OMIM:209900
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Short nose, Hepatomegaly, Narrow nasal bridge, Low hanging columella, Anteverted nares, High pala...	OMIM:619383
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Aplasia of the distal phalanx of the 2nd finger, Unilateral renal agenesis, Abnormal cardiac sept...	OMIM:308050
Pulmonary Hypertension, Primary, 1	Arterial intimal fibrosis, Pulmonary arterial medial hypertrophy, Right ventricular hypertrophy, ...	OMIM:178600
Opsoclonus-Myoclonus Syndrome	Small cell lung carcinoma, Neoplasm of the lung, Ovarian teratoma, Melanoma, Neuroblastoma, Breas...	ORPHA:1183
Chromosome 2P16.1-P15 Deletion Syndrome	Retrognathia, High, narrow palate, Prominent nasal tip, High palate, Everted lower lip vermilion,...	OMIM:612513
Alagille Syndrome	Hypoplasia of the ulna, Long nose, Renal hypoplasia/aplasia, Hepatomegaly, Short philtrum, Ventri...	ORPHA:52
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect, Aganglionic megacolon	OMIM:235750
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Long nose, Urinary incontinence, Short 5th finger, Short finger, Hypospadias, Pelvic kidney, Ante...	OMIM:619522
Diamond-Blackfan Anemia 10	Congenital diaphragmatic hernia, Ectopic kidney, Morgagni diaphragmatic hernia, Choanal atresia, ...	OMIM:613309
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Ventricular septal defect, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Hypertrophic...	OMIM:616277
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Transposition of the great arteries, Patent foramen ovale, Everted lower lip vermilion, Wide mout...	OMIM:616789
Coffin-Siris Syndrome 7	Thick lower lip vermilion, Short philtrum, Wide nose, Anteverted nares, Patent foramen ovale, Thi...	OMIM:618027
Aortic Arch Interruption	Transposition of the great arteries, Patent ductus arteriosus, Aortic valve atresia, Aortopulmona...	ORPHA:2299
Congenital Myopathy 14	Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in infancy	OMIM:618414
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	11 pairs of ribs, Narrow nasal bridge, Labial hypoplasia, Low hanging columella, Ventricular sept...	OMIM:620073
Holoprosencephaly 11	Microcephaly, Holoprosencephaly, Agenesis of corpus callosum	OMIM:614226
Filippi Syndrome	Thin vermilion border, Short philtrum, Wide nose, Cryptorchidism, Broad columella, Prominent nasa...	ORPHA:3255
Stevenson-Carey Syndrome	Left superior vena cava draining to coronary sinus, Recurrent urinary tract infections, Anteverte...	OMIM:611961
Cardiomyopathy, Dilated, 1D	Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy	OMIM:601494
Combined Oxidative Phosphorylation Deficiency 54	Secondary microcephaly, Periventricular white matter hyperintensities, Periventricular nodular he...	OMIM:619737
Vater/Vacterl Association	Hypoplasia of the radius, Transposition of the great arteries, Ectopic kidney, Hypospadias, Paten...	OMIM:192350
Intellectual Developmental Disorder, Autosomal Dominant 47	Cryptorchidism, Widely-spaced incisors, Wide mouth, Prominent nasal bridge, Ventricular septal de...	OMIM:617635
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Atelectasis, Elevated bronchoalveolar lavage fluid lymphocyte proportion, Cystic pattern on pulmo...	OMIM:610978
Trisomy 20P	Everted lower lip vermilion, Microdontia, Multiple renal cysts, Abnormality of the kidney, Hyposp...	ORPHA:261318
Heterotaxy, Visceral, 2, Autosomal	Situs inversus totalis, Atrioventricular canal defect, Transposition of the great arteries, Mesoc...	OMIM:605376
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Hypospadias, Ventricular septal defect, Cleft upper lip, Coarctation of aorta, Cleft palate, Tetr...	OMIM:600460
Brain Small Vessel Disease 2	Polymicrogyria, Subcortical heterotopia, Schizencephaly, Porencephalic cyst	OMIM:614483
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia, Ovotestis, Hypospadias, Renal agenesis, Pulmonary artery stenosi...	OMIM:611812
Short Stature-Micrognathia Syndrome	Retrognathia, Penoscrotal hypospadias, Rhizomelia, Skeletal muscle hypertrophy, High palate, Cryp...	OMIM:617164
Hamamy Syndrome	Hypoparathyroidism, Dental malocclusion, Short 2nd finger, Hypodontia, Anteverted nares, High pal...	OMIM:611174
Maxillonasal Dysplasia, Binder Type	Short nose, Short distal phalanx of finger, Dental malocclusion, Depressed nasal bridge, Short co...	OMIM:155050
Chronic Beryllium Disease	Hypersensitivity pneumonitis, Respiratory insufficiency, Pulmonary fibrosis, Lymphocytic intersti...	ORPHA:133
15Q11.2 Microdeletion Syndrome	Abnormal palate morphology, Total anomalous pulmonary venous return, Coarctation of aorta, Abnorm...	ORPHA:261183
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Enlarged kidney, Ureteral duplication, Rhabdomyosarcoma, Large i...	ORPHA:116
6P22 Microdeletion Syndrome	Abnormal palate morphology, Hydronephrosis, Patent ductus arteriosus	ORPHA:251046
Joubert Syndrome 3	Nephronophthisis, Anteverted nares, Open mouth, Atrial septal defect, Stage 5 chronic kidney dise...	OMIM:608629
Peripartum Cardiomyopathy	Left atrial enlargement, Myocarditis, Abnormal atrioventricular valve morphology, Stroke-like epi...	ORPHA:563
Velocardiofacial Syndrome	Retrognathia, Right aortic arch with mirror image branching, Hypoparathyroidism, Interrupted aort...	OMIM:192430
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Ventricular septal defect, Cleft palate	OMIM:214300
Peroxisome Biogenesis Disorder 1A (Zellweger)	Clitoral hypertrophy, High, narrow palate, Hepatomegaly, Hypospadias, Anteverted nares, Ventricul...	OMIM:214100
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose, Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Wide mouth, Thin ...	ORPHA:2429
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure, Dysphagia	OMIM:613435
Infundibulopelvic Dysgenesis	Microscopic hematuria, Multicystic kidney dysplasia	OMIM:600989
Micro Syndrome	Short nose, Short philtrum, Hypoplasia of penis, Anteverted nares, Hypoplastic labia minora, High...	ORPHA:2510
Adrenocortical Carcinoma	Lung adenocarcinoma, Adrenocortical carcinoma	ORPHA:1501
Posterior Urethral Valve	Retrognathia, Urinary incontinence, Unilateral renal dysplasia, Recurrent urinary tract infection...	ORPHA:93110
Intellectual Developmental Disorder, Autosomal Dominant 53	Cryptorchidism, Intestinal malrotation, Hydronephrosis, Wide mouth, Short femur, Ventricular sept...	OMIM:617798
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corpus callosum, Absent septum...	ORPHA:2182
Schuurs-Hoeijmakers Syndrome	Patent foramen ovale, Bulbous nose, Downturned corners of mouth, Volvulus, Wide mouth, Smooth phi...	OMIM:615009
Bartsocas-Papas Syndrome	Short nose, Renal hypoplasia/aplasia, Hypoplastic male external genitalia, Underdeveloped nasal a...	ORPHA:1234
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Atelectasis, Death in infancy	OMIM:300219
Distal Duplication 6P	Thin vermilion border, Narrow mouth, Renal hypoplasia, Micrognathia, Hydronephrosis, Prominent na...	ORPHA:1745
Ventriculomegaly With Cystic Kidney Disease	Tubular luminal dilatation, Vascular dilatation, Hyperechogenic kidneys, Ventricular septal defec...	OMIM:219730
Timothy Syndrome	Patent foramen ovale, Microdontia, Tetralogy of Fallot, Patent ductus arteriosus, Cardiomegaly, V...	OMIM:601005
Mercury Poisoning	Respiratory failure, Interstitial pneumonitis, Anorexia	ORPHA:330021
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Multiple bladder diverticula, Widely spaced teeth, Microdontia, Hypoplasia of teeth, Cleft palate...	ORPHA:2728
Heterotaxy, Visceral, 7, Autosomal	Hypoplasia of right ventricle, Situs inversus totalis, Transposition of the great arteries, Abnor...	OMIM:616749
X-Linked Intellectual Disability Due To Gria3 Mutations	Narrow palate, Short philtrum, Facial hypotonia, Mandibular prognathia, Short upper lip, Hydronep...	ORPHA:364028
Orofaciodigital Syndrome Type 5	Supernumerary tooth, High, narrow palate, Aganglionic megacolon, Absent cupid's bow, Agenesis of ...	ORPHA:2919
Peters Plus Syndrome	Ureteral duplication, Renal hypoplasia/aplasia, Pulmonic stenosis, Wide mouth, Long philtrum, Abn...	ORPHA:709
Atresia Of Urethra	Hydroureter, Recurrent urinary tract infections, Dilatation of the bladder, Vesicoureteral reflux...	ORPHA:105
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Anteverted nares, High palate, Glossoptosis, Camptodactyly, Micrognathia, Pierre-Robi...	OMIM:613604
Leopard Syndrome 1	Hypospadias, Unilateral renal agenesis, Hypoplasia of the ovary, Hyposmia, Mandibular prognathia,...	OMIM:151100
Renal Hypoplasia	Abnormal renal tubule morphology, Unilateral renal agenesis, Recurrent urinary tract infections, ...	ORPHA:93101
Short Stature, Developmental Delay, And Congenital Heart Defects	Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Patent ductus arteriosus	OMIM:617044
Say Syndrome	Micrognathia, Cleft palate, Proximal renal tubular acidosis, Short distal phalanx of finger, Cyst...	OMIM:181180
Harel-Yoon Syndrome	Short nose, Mandibular prognathia, Distal amyotrophy, Hypertrophic cardiomyopathy, Micrognathia	OMIM:617183
Aneurysm-Osteoarthritis Syndrome	Retrognathia, Dilatation of the cerebral artery, Vascular dilatation, Arterial tortuosity, Patent...	ORPHA:284984
Apert Syndrome	Narrow palate, Esophageal atresia, Delayed eruption of teeth, Mandibular prognathia, Ectopic anus...	OMIM:101200
Tetrasomy 9P	Abnormal number of permanent teeth, Juxtaductal coarctation of the aorta, Dental crowding, Aplasi...	ORPHA:3310
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Short nose, Hypoplastic female external genitalia, Anteverted nares, Micrognathia, Broad philtrum...	OMIM:618577
Thrombocytopenia-Absent Radius Syndrome	Abnormality of the kidney, Fibular aplasia, Aplasia/Hypoplasia of the ulna, Aplasia/Hypoplasia of...	ORPHA:3320
Miller-Dieker Syndrome	Short nose, Anteverted nares, Nephropathy, Abnormal upper lip morphology	ORPHA:531
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Anteverted nares, Patent foramen ovale, Prominent nasal tip, Scapular winging, Micromelia, Micror...	OMIM:618870
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Hepatomegaly, Polycystic kidney dysplasia, Pancreatic hypoplasia, Choanal atresia, Renal cyst, De...	OMIM:610199
Kagami-Ogata Syndrome	Retrognathia, Hepatomegaly, Anteverted nares, Diastasis recti, Pulmonic stenosis, Hypoplasia of t...	OMIM:608149
Trichorhinophalangeal Syndrome, Type Ii	Short metacarpal, Bicuspid aortic valve, Cerebral arteriovenous malformation, Hydrometrocolpos, C...	OMIM:150230
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Abnormal palate morphology, Short nose, Narrow mouth, Camptodactyly of finger, Micrognathia	ORPHA:1495
Prader-Willi Syndrome Due To Translocation	Retrognathia, Everted lower lip vermilion, Abnormal heart morphology, Bifid uvula, Wide mouth, Al...	ORPHA:177907
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Atrial septal defect, Short metatarsal	OMIM:113301
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Retrognathia, Aortic valve stenosis, Abnormal columella morpholo...	ORPHA:96121
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Spontaneous neonatal pneumothorax, Abnormal pulmonary interstitial morphology, Intraalveolar phos...	ORPHA:217563
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Fibular hypoplasia, Short ribs, Anal atresia, Uterus didelphys, Micrognathia, Natal tooth, Tetral...	OMIM:617925
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormal columella morphology, Hypospadias, Glossoptosis, Wrist flexion cont...	ORPHA:436003
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Death in childhood, Dysgenesis of the basal ganglia, Pachygyria, Agenesis of corpus callosum, Lis...	OMIM:620316
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Dysplastic pulmonary valve, Anteverted nares, Precocious puberty, Cleft upper lip, Bifid uvula, C...	OMIM:300958
Kabuki Syndrome 2	Atrioventricular canal defect, Dental malocclusion, High palate, Depressed nasal tip, Pulmonic st...	OMIM:300867
Developmental Delay, Language Impairment, And Ocular Abnormalities	Pulmonic stenosis, Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th f...	OMIM:620141
Pelger-Huet Anomaly	Short 4th metacarpal, Upper limb undergrowth, Gingival overgrowth, Abnormality of the dentition, ...	OMIM:169400
Wrinkly Skin Syndrome	Muscular ventricular septal defect, Delayed eruption of teeth, Hypoplasia of the musculature, Hig...	OMIM:278250
Cat-Eye Syndrome	Anal atresia, Renal hypoplasia/aplasia, Hydronephrosis, Abnormal localization of kidney	ORPHA:195
Dworschak-Punetha Neurodevelopmental Syndrome	Microcephaly, Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum	OMIM:619955
Congenital Myopathy 11	Atrial septal defect, Patent foramen ovale, Weakness of facial musculature, Patent ductus arteriosus	OMIM:619967
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Dental crowding, Increased size of nasopharyngeal adenoids, Persistence of primary teeth, Patent ...	OMIM:619769
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Retrognathia, Ventricular septal defect, High palate, Prominent nasal bridge, Flexion contracture...	OMIM:617452
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Short nose, Delayed eruption of teeth, Pelvic kidney, Anteverted n...	OMIM:247200
Isolated Dandy-Walker Malformation	Cleft palate, Tetralogy of Fallot	ORPHA:217
19Q13.11 Microdeletion Syndrome	Retrognathia, Thin vermilion border, Solitary median maxillary central incisor, Hypospadias, Bifi...	ORPHA:217346
3Mc Syndrome 1	Dental crowding, Diastasis recti, Cleft lip, Cleft upper lip, Hydronephrosis, Cleft palate, Paten...	OMIM:257920
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Dicarboxylic aciduria, Ethylmalonic aciduria, Increased urine alpha-ketoglutarate concentration, ...	OMIM:619355
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory failure, Recurrent respiratory infections	ORPHA:2759
Intellectual Developmental Disorder, Autosomal Dominant 48	Hypospadias, Low hanging columella, Anteverted nares, Prominent nasal bridge, Open mouth, Patent ...	OMIM:617751
3-Methylglutaconic Aciduria, Type V	3-Methylglutaconic aciduria, Hypospadias, Noncompaction cardiomyopathy, Decreased testicular size...	OMIM:610198
Congenital Disorder Of Glycosylation, Type Iiaa	Hepatomegaly, Unilateral renal agenesis, Patent ductus arteriosus after premature birth, Hydronep...	OMIM:620454
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Smooth philtrum, Long philtrum, Thin upper lip vermilion, Depressed nasal bridge	ORPHA:438178
Periventricular Nodular Heterotopia 1	Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Thin corpus callosum, Gray ...	OMIM:300049
Intellectual Developmental Disorder, X-Linked 112	Hypospadias, Ectopic kidney, Horseshoe kidney, Enuresis nocturna, Vesicoureteral reflux, Right ao...	OMIM:301111
Congenital Myopathy 10B, Mild Variant	Respiratory failure, Recurrent pneumonia, Dysphagia	OMIM:620249
Floating-Harbor Syndrome	Mesocardia, Microdontia, Nephrocalcinosis, Wide mouth, Congenital posterior urethral valve, Epidi...	OMIM:136140
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Orofacial cleft, Nephronophthisis, Hepatomegaly, Short ribs, Splenomegaly, Chronic kidney disease...	OMIM:615630
Acromicric Dysplasia	Short nose, Thick lower lip vermilion, Anteverted nares, Narrow mouth, Short metacarpal, Short pa...	ORPHA:969
Diabetes Insipidus, Neurohypophyseal	Long philtrum, Short nose, Wide nose	OMIM:125700
Acrorenal Syndrome	Renal hypoplasia/aplasia, Abnormal renal morphology, Micrognathia, Cleft palate, Aplasia/Hypoplas...	ORPHA:971
Oculodentodigital Dysplasia	Short nose, Joint contracture of the 5th finger, Narrow nasal bridge, Broad alveolar ridges, Neur...	OMIM:164200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Hepatomegaly, Facial hypotonia, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Cardio...	ORPHA:308552
Branchio-Oculo-Facial Syndrome	Orofacial cleft, Non-midline cleft of the upper lip, High palate, Everted lower lip vermilion, Mi...	ORPHA:1297
Joubert Syndrome 35	Recurrent urinary tract infections, Anteverted nares, Renal fibrosis, Hydronephrosis, Multicystic...	OMIM:618161
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Abnormal heart morph...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Intestinal pseudo-obstruction, Abnormality of primary teeth, Tooth agenesis, Abnormal heart morph...	ORPHA:352665
Idiopathic Chronic Eosinophilic Pneumonia	Pleural effusion, Hypersensitivity pneumonitis, Atelectasis	ORPHA:2902
Ritscher-Schinzel Syndrome 2	Short philtrum, Ventricular septal defect, High palate, Camptodactyly, Pulmonary artery hypoplasi...	OMIM:300963
Ceroid Lipofuscinosis, Neuronal, 10	Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:610127
Pontocerebellar Hypoplasia Type 2	Hypoplasia of the corpus callosum, Progressive microcephaly, Abnormal cortical gyration, Dysplast...	ORPHA:2524
Aural Atresia, Multiple Congenital Anomalies, And Mental Retardation	Ventricular septal defect	OMIM:209770
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Retrognathia, High palate, Choanal atresia, Cleft palate, Prominent nasal bridge, Patent ductus a...	ORPHA:52055
Distal Deletion 10Q	Acute kidney injury, Short nose, Short metatarsal, Vesicoureteral reflux, High palate, Facial dip...	ORPHA:96148
Congenital Aortic Valve Stenosis	Aortic valve atresia, Dysplastic aortic valve, Aortic valve stenosis, Left ventricular hypertroph...	ORPHA:3093
Jansen-De Vries Syndrome	Central diaphragmatic hernia, Anteverted nares, Thin upper lip vermilion, Wide mouth, Bicuspid ao...	OMIM:617450
Desmosterolosis	Abnormality of the nose, Retrognathia, Short nose, Renal hypoplasia/aplasia, Narrow mouth, Microm...	ORPHA:35107
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Abnormal aortic valve morphology, Dextrocardia, Pyloric stenosis...	ORPHA:261197
Developmental And Epileptic Encephalopathy 75	Short nose, Short philtrum, Anteverted nares, Cardiomyopathy, Open mouth, Wide nasal bridge	OMIM:618437
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Bifid uvula, Decreased response to growth hormone stimulation test, Hyposp...	OMIM:601808
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Long philtrum, Short nose, Congenital muscular torticollis, Patent foramen ovale, High palate, Su...	ORPHA:457279
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, Ventricular septal defect, High palate, Cleft palate	OMIM:609654
Cenani-Lenz Syndactyly Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Ectopic kidney, Pulmonic stenosis, Renal hypopl...	OMIM:212780
Keutel Syndrome	Wide nose, Underdeveloped nasal alae, Pulmonary artery stenosis, Recurrent sinusitis, Short dista...	ORPHA:85202
Renal And Mullerian Duct Hypoplasia	Short nose, Aplasia of the uterus, Anteriorly displaced urethral meatus, Renal hypoplasia, Microg...	OMIM:266810
Smith-Lemli-Opitz Syndrome	Congenital diaphragmatic hernia, Clitoral hypertrophy, Renal hypoplasia/aplasia, Hypoplasia of pe...	ORPHA:818
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Everted lower lip vermilion, Broad nasal tip, O...	OMIM:137550
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Pulmonic stenosis, Submucous cleft hard palate, Bifid uvula, Absent thumb, Atrial septal defect	OMIM:619239
Doors Syndrome	Aplasia/Hypoplasia of the phalanges of the 2nd toe, Wide nasal base, Broad alveolar ridges, Adren...	ORPHA:79500
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Duodenal atresia, Narrow nasal bridge,...	ORPHA:2092
Hydrocephaly-Low Insertion Umbilicus Syndrome	Long nose, Wide nose, Tetralogy of Fallot, Patent ductus arteriosus, Anomalous pulmonary venous r...	ORPHA:2184
Bohring-Opitz Syndrome	Retrognathia, Hyperechogenic pancreas, Broad alveolar ridges, Bilateral cleft palate, Intestinal ...	OMIM:605039
Trigonocephaly 1	Short nose, High, narrow palate, Long penis, Meckel diverticulum, Long philtrum, Wide nasal bridge	OMIM:190440
Formiminoglutamic Aciduria	Atrial septal defect, Abnormal concentration of acylcarnitine in the urine	ORPHA:51208
Developmental And Epileptic Encephalopathy 90	Atrial septal defect, Fetal pyelectasis, Limb hypertonia	OMIM:301058
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in childhood, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory fail...	OMIM:245400
Transaldolase Deficiency	Thin vermilion border, Clitoral hypertrophy, Hepatomegaly, Short philtrum, Patent foramen ovale, ...	OMIM:606003
Avian Influenza	Pneumothorax, Miscarriage, Pleural effusion, Pneumonia, Respiratory failure	ORPHA:454836
Craniofacial-Deafness-Hand Syndrome	Short nose, Narrow mouth, Depressed nasal ridge, Hypoplasia of the maxilla, Camptodactyly of fing...	ORPHA:1529
Cardioacrofacial Dysplasia 2	Atrioventricular canal defect, Short philtrum, Accessory oral frenulum, Conical tooth, Mandibular...	OMIM:619143
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Microcephaly, Simplified gyral pattern, Dysplastic corpus callosum	OMIM:620001
Ventriculomegaly With Defects Of The Radius And Kidney	Ureteral duplication, Vascular dilatation, Ectopic kidney, Forearm undergrowth, Renal agenesis, A...	OMIM:602200
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Intestinal pseudo-obstruction, Increased size of the mandible, Congenital shortened small intesti...	OMIM:300048
Caudal Duplication	Ureteral duplication, Renal hypoplasia/aplasia, Intestinal duplication, Cryptorchidism, Uterus di...	ORPHA:1756
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short nose, Vascular dilatation, Wide nose, Anteverted nares, Short ribs, Micromelia, Cardiomegal...	OMIM:613320
Acalvaria	Hydrocephalus, Abnormality of neuronal migration, Holoprosencephaly, Spina bifida	ORPHA:945
Fetal Valproate Spectrum Disorder	Thin vermilion border, Short nose, Narrow mouth, Depressed nasal ridge, Downturned corners of mou...	ORPHA:1906
Maffucci Syndrome	Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor...	ORPHA:163634
Mosaic Variegated Aneuploidy Syndrome 2	Short nose, Decreased response to growth hormone stimulation test, Rhizomelia, Narrow mouth, Bulb...	OMIM:614114
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Pulmonic stenosis, Wide mouth, Long philtrum, Short 5th finger, Shor...	OMIM:614609
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Short ribs, Short metacarpal, Mesomelia, Short humerus, Hypoplasia of the r...	ORPHA:3404
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Atrial septal defect, Urinary incontinence	OMIM:620094
Combined Oxidative Phosphorylation Deficiency 52	Anorexia, Respiratory failure, Death in infancy	OMIM:619386
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in childhood, Chylothorax, Death in infancy, Dysphagia, Respiratory failure	OMIM:620278
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hydrocephalus, Agenesis of corpus callosum, Abnormality of the anterior commissure	OMIM:617542
Mosaic Trisomy 8	Wide nose, Anteverted nares, Vesicoureteral reflux, High palate, Arthrogryposis multiplex congeni...	ORPHA:96061
Ogden Syndrome	Everted upper lip vermilion, High, narrow palate, Torticollis, Ventricular septal defect, Pulmona...	ORPHA:276432
Peho-Like Syndrome	Retrognathia, Short nose, Open mouth	OMIM:617507
Split-Hand/Foot Malformation 3	High palate, Narrow mouth, Camptodactyly, Hypoplasia of the maxilla, Renal hypoplasia, Cleft pala...	OMIM:246560
Oculofaciocardiodental Syndrome	Abnormal palate morphology, Solitary median maxillary central incisor, Delayed eruption of teeth,...	ORPHA:2712
Mosaic Trisomy 16	Abnormality of the nose, Hypospadias, Meckel diverticulum, Single coronary artery origin, Coarcta...	ORPHA:1708
Insulin-Like Growth Factor I, Resistance To	Retrognathia, Short finger, Patent foramen ovale, High palate, Narrow mouth, Micrognathia, Thin u...	OMIM:270450
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Microcolon, Intestinal malrotation, Hydronephrosis, Megacystis	OMIM:619431
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Long philtrum, Dilation of Virchow-Robin spaces, Anteverted nares, Mandibular prognathia, Exagger...	OMIM:619720
19P13.3 Microduplication Syndrome	Short philtrum, Narrow mouth, Unilateral cryptorchidism, Precocious puberty, Micrognathia, Cleft ...	ORPHA:447980
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebral atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dysplastic cor...	OMIM:616900
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Anteverted nares, Vesicoureteral reflux, Choanal atresia, Cryptorchidism, Micrognath...	ORPHA:494344
Ciliary Dyskinesia, Primary, 1	Absent outer dynein arms, Atelectasis, Recurrent bronchitis, Nasal polyposis, Bronchiectasis, Pne...	OMIM:244400
Wolcott-Rallison Syndrome	Hepatomegaly, Chronic kidney disease, Double outlet right ventricle, Atrial septal defect, Renal ...	ORPHA:1667
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Agenesis of corpus callosum	OMIM:614120
Smith-Magenis Syndrome	Short nose, Renal hypoplasia/aplasia, Short philtrum, Anteverted nares, Mandibular prognathia, Ab...	ORPHA:819
Campomelia, Cumming Type	Polycystic kidney dysplasia, Pancreatic cysts	OMIM:211890
Seckel Syndrome 5	Retrognathia, Clitoral hypertrophy, 11 pairs of ribs, Hypospadias, Oligodontia, Selective tooth a...	OMIM:613823
Jacobsen Syndrome	Aortic valve stenosis, Intestinal malrotation, Abnormality of the anus, Long philtrum, Anteverted...	ORPHA:2308
Weill-Marchesani Syndrome	Pulmonic stenosis, Short thumb, Ventricular septal defect, Aortic valve stenosis	ORPHA:3449
Chromosome 10Q26 Deletion Syndrome	Long philtrum, Flared nostrils, Vesicoureteral reflux, High palate, Scapular winging, Prominent n...	OMIM:609625
Fanconi Anemia, Complementation Group I	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Abnormal renal m...	OMIM:609053
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Short finger, Dilation of Virchow-Robin spaces, Hypospadias, Dental crowding, Mandibular prognath...	OMIM:300998
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Pulmonic stenosis, Eosinophilic infiltration of the esophagus, Multiple muscular ventricular sept...	OMIM:615508
Cardiofaciocutaneous Syndrome 1	Short nose, Dental malocclusion, Anteverted nares, Open bite, High palate, Abnormality of the den...	OMIM:115150
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Hydrocephalus, Gray matter heterotopia, Communicating hydrocephalus, Microcephaly, Colpocephaly, ...	OMIM:615219
Autosomal Dominant Coarctation Of Aorta	Abnormal aortic arch morphology, Aortic arch aneurysm, Patent ductus arteriosus, Ventricular sept...	ORPHA:1455
Arthrogryposis Multiplex Congenita 6	Respiratory failure, Death in childhood, Neonatal death, Death in infancy	OMIM:619334
Tuberous Sclerosis Complex	Abnormality of the kidney, Cardiac rhabdomyoma, Aortic aneurysm, Pheochromocytoma, Polycystic kid...	ORPHA:805
Lethal Congenital Contracture Syndrome 10	Narrow palate, Long philtrum, Convex nasal ridge, Torticollis, High palate, Hypoplasia of the thy...	OMIM:617022
Ciliary Dyskinesia, Primary, 20	Situs inversus totalis, Dextrocardia, Persistent left superior vena cava, Aortic valve stenosis, ...	OMIM:615067
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Widely spaced teeth, Vaginal dryness, Hypospadias, Supernumerary nipple, Conical tooth, Bilateral...	OMIM:106260
Chromosome 1Q41-Q42 Deletion Syndrome	Congenital diaphragmatic hernia, Widely spaced teeth, Short philtrum, Anteverted nares, High pala...	OMIM:612530
Desbuquois Syndrome	Anteverted nares, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, ...	ORPHA:1425
Pfeiffer Syndrome Type 3	Short nose, Short hallux, Vesicoureteral reflux, High palate, Short foot, Anal atresia, Choanal a...	ORPHA:93260
Sick Sinus Syndrome 2	Left ventricular noncompaction, Mitral valve prolapse, Left ventricular hypertrophy	OMIM:163800
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Squamous cell carcinoma	OMIM:615225
Brain-Lung-Thyroid Syndrome	Abnormal pulmonary interstitial morphology, Abnormal eating behavior, Hyperactivity, Compulsive b...	ORPHA:209905
Smith-Lemli-Opitz Syndrome	Broad alveolar ridges, Dental crowding, Bifid scrotum, Intestinal malrotation, Bifid uvula, Splen...	OMIM:270400
Kleefstra Syndrome 1	Hypospadias, Abnormal renal morphology, Mandibular prognathia, Anteverted nares, Conotruncal defe...	OMIM:610253
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Spondylometaphyseal Dysplasia, X-Linked	Respiratory insufficiency, Respiratory failure	OMIM:313420
Combined Oxidative Phosphorylation Deficiency 53	Secondary microcephaly, Death in childhood, Death in infancy, Dysplastic corpus callosum	OMIM:619423
Holoprosencephaly 14	Proboscis, Aortic valve atresia, Anteverted nares, Cleft palate, Double outlet right ventricle, C...	OMIM:619895
Trisomy 12P	Short nose, Supernumerary nipple, Everted lower lip vermilion, Anal atresia, Micrognathia, Cleft ...	ORPHA:1699
Hydrolethalus Syndrome 1	Adrenal gland dysgenesis, Midline defect of the nose, Hypospadias, Abnormal vagina morphology, Up...	OMIM:236680
Proximal Spinal Muscular Atrophy	Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneumonia, Dysphagia, Resp...	ORPHA:70
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Long nose, Decreased response to growth hormone stimulation test, Short nose, Short philtrum, Del...	OMIM:615866
19P13.12 Microdeletion Syndrome	Thin vermilion border, Hypospadias, Narrow nasal bridge, Hypodontia, Anteverted nares, Ventricula...	ORPHA:254346
Lower Limb Malformation-Hypospadias Syndrome	Hypospadias, Abnormality of the ureter	ORPHA:2487
Holoprosencephaly 3	Abnormality of the nose, Solitary median maxillary central incisor, Proboscis, Single naris, Bifi...	OMIM:142945
Schöpf-Schulz-Passarge Syndrome	Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma	ORPHA:50944
Genitopatellar Syndrome	Clitoral hypertrophy, Malrotation of small bowel, Small scrotum, Enlarged labia minora, Labial hy...	OMIM:606170
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Short nose, Anteverted nares, High palate, Micrognathia, Abnormal heart morphology, Tented upper ...	ORPHA:314655
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Recurrent respiratory infections	ORPHA:3226
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Radio-Tartaglia Syndrome	Retrognathia, High, narrow palate, Short philtrum, Dental crowding, Anteverted nares, Prominent n...	OMIM:619312
T-Cell Immunodeficiency With Thymic Aplasia	Bronchiectasis, Recurrent pneumonia, Emphysema, Recurrent bronchopulmonary infections	OMIM:242700
20Q13.33 Microdeletion Syndrome	Thin vermilion border, Dilation of Virchow-Robin spaces, Hypospadias, Hypoplastic aortic arch, Fa...	ORPHA:261311
Meckel Syndrome, Type 9	Ambiguous genitalia, Limb undergrowth, Multicystic kidney dysplasia	OMIM:614209
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Aplasia of the distal phalanx of the 5th toe, Everted lower lip vermilion, Long philtrum, Short f...	OMIM:608670
Triploidy	Hepatomegaly, Hypospadias, Hypoplasia of penis, Non-midline cleft of the upper lip, Macroglossia,...	ORPHA:3376
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ankle flexion contracture, Hypospadias, Unilateral renal agenesis, Pelvic kidney, Ventricular sep...	ORPHA:464311
Multifocal Atrial Tachycardia	Ventricular septal defect, Hypertrophic cardiomyopathy, Pulmonic stenosis, Left ventricular dilat...	ORPHA:3282
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Thin vermilion border, Short nose, Anteverted nares, Intestinal malrotation, Velopharyngeal insuf...	OMIM:614701
Isotretinoin-Like Syndrome	Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Anteverted nares, Abnorma...	ORPHA:2306
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Hypospadias, Recurrent urinary tract infections, Neurogenic bladder, Vesicoureteral reflux, Hydro...	OMIM:191800
Aortic Valve Disease 3	Aortic root aneurysm, Aortic valve stenosis, Ascending aortic dissection, Bicuspid aortic valve, ...	OMIM:618496
8P11.2 Deletion Syndrome	Patent ductus arteriosus, Azoospermia, Hypoplasia of penis, High palate, Anosmia, Micrognathia, S...	ORPHA:251066
Cardiofaciocutaneous Syndrome	Short nose, Abnormal heart valve morphology, Anteverted nares, High palate, Hypertrophic cardiomy...	ORPHA:1340
Developmental And Epileptic Encephalopathy 73	Short nose, Flexion contracture, Narrow nasal bridge	OMIM:618379
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Microcephaly, Death in childhood, Dysplastic corpus callosum	OMIM:604273
Marcus-Gunn Syndrome	Nephrolithiasis, Choanal atresia, Cleft palate, Abnormal heart morphology, Abnormality of the sen...	ORPHA:91412
Trisomy 10P	Abnormality of the nose, Abnormality of the kidney, Retrognathia, Orofacial cleft, Thin vermilion...	ORPHA:171929
15Q Overgrowth Syndrome	Retrognathia, High, narrow palate, Abnormal renal morphology, Mandibular prognathia, Dental crowd...	ORPHA:314585
Urofacial Syndrome 2	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Urinary urgency, Hydronephro...	OMIM:615112
Buratti-Harel Syndrome	Dilation of Virchow-Robin spaces, Hypospadias, High palate, Submucous cleft hard palate, Velophar...	OMIM:619314
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Widely spaced teeth, Unilateral renal agenesis, Hypospadias, Short philtrum, Flared nostrils, Tot...	ORPHA:487796
Encephalopathy Due To Sulfite Oxidase Deficiency	Long philtrum, Short nose, Thick vermilion border, Aminoaciduria	ORPHA:833
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Abnormal vena cava morphology, Atrial septal dila...	ORPHA:1677
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Wide nose, Ventricular septal defect, High palate, Limb joint contracture, Prominen...	ORPHA:505237
Cardiofacioneurodevelopmental Syndrome	Atrioventricular canal defect, Ventricular septal defect, Camptodactyly, Pulmonic stenosis, Micro...	OMIM:619123
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Patent foramen ovale, Restrictive cardiomyopathy, Camptodactyly, Depressed nasal tip, Hypoplasia ...	ORPHA:88630
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Pulmonic stenosis, Wide mouth, Atrial septal defect, Ventricular sep...	OMIM:615279
Cirrhotic Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca...	ORPHA:57777
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Wide nasal base, Dental crowding, High palate, Camptodactyly, Hepatosplenomegaly, Thick vermilion...	ORPHA:397709
Chromosome 17Q12 Duplication Syndrome	Esophageal atresia, Cleft soft palate, Facial hypotonia, Micrognathia, Smooth philtrum, Atrial se...	OMIM:614526
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Short metatarsal, Hypospadias, Anteverted nares, Mandibular prognathia, Short metacar...	OMIM:614613
Meckel Syndrome	Situs inversus totalis, Ureteral duplication, Multicystic kidney dysplasia, Pancreatic fibrosis, ...	ORPHA:564
Ohdo Syndrome, Sbbys Variant	Hypospadias, Microdontia, Bulbous nose, Micrognathia, Cleft palate, Dilated cardiomyopathy, Crypt...	OMIM:603736
Camptodactyly Syndrome, Guadalajara Type 1	Short nose, Anteverted nares, Mandibular prognathia, Open bite, High palate, Narrow mouth, Scapul...	ORPHA:1327
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Anteverted nares, Vesicoureteral reflux, Narrow mouth, Renal hypoplasia, Hydronephros...	OMIM:613735
Ververi-Brady Syndrome	Transposition of the great arteries, Wide nose, High palate, Everted lower lip vermilion, Wide mo...	OMIM:617982
Urban-Rogers-Meyer Syndrome	Flexion contracture of toe, Hypoplasia of penis, Abnormality of the philtrum, Abnormality of the ...	ORPHA:3409
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Aganglionic megacolon, Anal stenosis, Shortening of all distal phalanges of the finge...	OMIM:614207
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Short philtrum, Aortic root aneurysm, Ventricular septal defect, Camptodactyly, Open mouth, Atria...	OMIM:301039
Xeroderma Pigmentosum Variant	Basal cell carcinoma, Squamous cell carcinoma, Melanoma	ORPHA:90342
Intermediate Nemaline Myopathy	Respiratory failure, Dysphagia	ORPHA:171433
Aase-Smith Syndrome I	Flexion contracture, Ventricular septal defect, Cleft palate, Open mouth	OMIM:147800
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Supernumerary nipple, Hyposmia, Pelvic kidney, Patent foramen ovale, Vesicourete...	OMIM:618653
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Dental crowding, Pulmonic stenosis, Aortic valve stenosis, Intestinal malrotation, Abnormal heart...	ORPHA:353281
Ochoa Syndrome	Urinary incontinence, Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral re...	ORPHA:2704
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Short ribs, Cryptorchidism, Patent ductus arteriosus, Atrial septal defect,...	ORPHA:2519
Igg4-Related Kidney Disease	Enlarged kidney, Pericarditis, Urinary bladder inflammation, Acute kidney injury, Abnormal ureter...	ORPHA:449395
Acquired Aneurysmal Subarachnoid Hemorrhage	Ischemic stroke, Left ventricular hypertrophy, Cerebral hemorrhage, Abnormal cerebral artery morp...	ORPHA:90065
Frontometaphyseal Dysplasia	Short metacarpal, Wrist flexion contracture, Abnormal heart morphology, Bifid uvula, Urethral ste...	ORPHA:1826
Isolated Polycystic Liver Disease	Hepatomegaly, Vascular dilatation, Multiple renal cysts	ORPHA:2924
Pde4D Haploinsufficiency Syndrome	Short nose, Short metatarsal, Hypospadias, Short philtrum, Upper limb undergrowth, Abnormal denta...	ORPHA:439822
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Intestinal atresia, Ventricular ...	ORPHA:3405
Jacobsen Syndrome	Short nose, Annular pancreas, Hypospadias, Labial hypoplasia, Anteverted nares, Ventricular septa...	OMIM:147791
Noonan Syndrome 3	Short nose, Tricuspid valve prolapse, Anteverted nares, Patent foramen ovale, Ventricular septal ...	OMIM:609942
Loeys-Dietz Syndrome 3	Retrognathia, Arterial tortuosity, Ventricular hypertrophy, Tortuous cerebral arteries, Aortic to...	OMIM:613795
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Enuresis, Hydronephrosis, Renal insuff...	ORPHA:84085
Robinow Syndrome, Autosomal Dominant 1	Retrognathia, Dental crowding, Mesomelia, Long philtrum, Narrow palate, Rhizomelia, Triangular mo...	OMIM:180700
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Dextrocardia, Coronary artery fistula, Di...	OMIM:614294
Au-Kline Syndrome	Retrognathia, Bifid nasal tip, Bifid uvula, Dilatation of the renal pelvis, Oligodontia, Cleft pa...	OMIM:616580
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis, Aganglionic megacolon, Anal atresia	OMIM:235760
Kabuki Syndrome 1	Anal stenosis, Anoperineal fistula, High palate, Abnormality of the dentition, Anal atresia, Cryp...	OMIM:147920
Fibrochondrogenesis 1	Joint contracture of the hand, Fibular hypoplasia, Short nose, Rhizomelia, Anteverted nares, Pate...	OMIM:228520
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Short nose, Anteverted nares, Hypoplasia of teeth, Ventricular septal defect	OMIM:234050
Idiopathic Pulmonary Arterial Hypertension	Abnormal jugular vein morphology, Right ventricular hypertrophy	ORPHA:275766
Hyperekplexia 4	Respiratory failure	OMIM:618011
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hypospadias, 11 pairs of ribs, Hypoplasia of penis, Esophageal atresia, Ventricular septal defect...	ORPHA:77298
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Bronchitis, Emphysema	ORPHA:60
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Annular pancreas, Hypospadias, Broad alveolar ridges, Patent foramen ovale, Vesicoureteral reflux...	OMIM:616975
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory insufficiency, Respiratory failure	ORPHA:370968
Nephrogenic Diabetes Insipidus	Hydroureter, Hyposthenuria, Enuresis nocturna, Functional abnormality of the bladder, Renal insuf...	ORPHA:223
Punctate Palmoplantar Keratoderma Type 1	Esophageal neoplasm, Basal cell carcinoma, Squamous cell carcinoma, Stomach cancer, Renal cell ca...	ORPHA:79501
Brachytelephalangic Chondrodysplasia Punctata	Short nose, Short distal phalanx of toe, Vertebral hypoplasia, Nasal congestion, Hypoplasia of th...	ORPHA:79345
Rabson-Mendenhall Syndrome	Atrial septal defect, Clitoral hypertrophy, Advanced eruption of teeth, Wide nose, Long penis, De...	ORPHA:769
Orofaciodigital Syndrome Type 1	Broad alveolar ridges, Accessory oral frenulum, Tongue nodules, Lip pit, Abnormality of the denti...	ORPHA:2750
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Non-Distal Duplication 13Q	Thin vermilion border, Short nose, High palate, Abnormality of the dentition, Everted lower lip v...	ORPHA:1702
Intellectual Developmental Disorder, X-Linked 21	Short nose, Dental crowding, Mandibular prognathia, Tented upper lip vermilion, Open mouth, Macro...	OMIM:300143
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Dental crowding, Intestinal malrotation, Paranasal sinus hypoplasia, ...	OMIM:300373
Dyrk1A-Related Intellectual Disability Syndrome	Breast hypoplasia, Hypospadias, Unilateral renal agenesis, Multiple joint contractures, Pelvic ki...	ORPHA:464306
Lateral Meningocele Syndrome	Long philtrum, Aortic aneurysm, Dental crowding, Neurogenic bladder, Ventricular septal defect, H...	OMIM:130720
Bdv Syndrome	Micrognathia, Atrial septal defect, Cryptorchidism, Micropenis, Hypogonadotropic hypogonadism	OMIM:619326
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Hepatomegaly, Unilateral renal agenesis, Proximal tubulopathy, Esophageal varix, En...	OMIM:614576
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Aplasia/Hypoplasia of the scapulae, Thick anterior alveolar ridg...	ORPHA:2839
Epidermal Nevus Syndrome	Polycystic kidney dysplasia, Rhabdomyosarcoma, Weakness of long finger extensor muscles, Aortic a...	ORPHA:35125
Early Infantile Epileptic Encephalopathy	Short finger, Anteverted nares, Precocious puberty, Ureterocele, Cleft palate, Renal dysplasia, V...	ORPHA:1934
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormal palate morphology, Short nose, Hypospadias, Abnormality of the dentition,...	ORPHA:1786
Pseudo-Torch Syndrome 1	Hepatomegaly, Anteverted nares, Patent foramen ovale, High palate, Splenomegaly, Microretrognathi...	OMIM:251290
1Q44 Microdeletion Syndrome	Thin vermilion border, Vesicoureteral reflux, Exaggerated cupid's bow, High palate, Intestinal ma...	ORPHA:238769
Renal-Hepatic-Pancreatic Dysplasia 2	Situs inversus totalis, Enlarged kidney, Hepatomegaly, Truncus arteriosus, Hypertrophic cardiomyo...	OMIM:615415
Congenital Myopathy 17	Mandibular prognathia, High palate, Renal hypoplasia, Hydronephrosis, Ureteropelvic junction obst...	OMIM:618975
Marden-Walker Syndrome	High, narrow palate, Dextrocardia, Hypospadias, Anteverted nares, High palate, Narrow mouth, Camp...	OMIM:248700
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Short philtrum, Mandibular prognathia, High palate, Shortening of all dist...	ORPHA:247262
Kaufman Oculocerebrofacial Syndrome	Short nose, Clitoral hypertrophy, Anteverted nares, High palate, Narrow mouth, Intestinal malrota...	OMIM:244450
Caudal Duplication Anomaly	Uterus didelphys, Ureteral duplication	OMIM:607864
Desmosterolosis	Ambiguous genitalia, male, Short nose, Rhizomelia, Gingival fibromatosis, Anteverted nares, Total...	OMIM:602398
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis	OMIM:620365
Congenital Disorder Of Glycosylation, Type Iu	Short nose, High palate, Congenital contracture, Micrognathia, Thin upper lip vermilion	OMIM:615042
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Elevated urinary aminoisobutyric acid, Short philtrum, Anteverted nares, Beta-alaninu...	OMIM:614105
Oculodentodigital Dysplasia	Broad alveolar ridges, Tooth agenesis, Taurodontia, Anteverted nares, Carious teeth, Premature lo...	ORPHA:2710
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short nose, Narrow mouth, Short metacarpal, Micrognathia, Cleft palate, Short toe, Limb undergrow...	OMIM:614078
Thiamine-Responsive Megaloblastic Anemia Syndrome	Atrial septal defect, Ventricular septal defect, Stroke	ORPHA:49827
Chromosome 6Pter-P24 Deletion Syndrome	Dental crowding, Patent foramen ovale, Short 2nd toe, High palate, Anal atresia, Narrow mouth, Ab...	OMIM:612582
Chromosome 16P13.3 Duplication Syndrome	Microdontia, Bifid uvula, Wide mouth, Long philtrum, Anteverted nares, Camptodactyly, Cryptorchid...	OMIM:613458
Giant Cell Arteritis	Hematuria, Recurrent pharyngitis, Glossitis, Vasculitis, Double outlet right ventricle with subpu...	ORPHA:397
Heart And Brain Malformation Syndrome	High, narrow palate, Thick lower lip vermilion, Limb hypertonia, Interrupted aortic arch, Antever...	OMIM:616920
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	T-cell lymphoma, Acute myeloid leukemia, Squamous cell carcinoma, Hepatocellular carcinoma, Neopl...	ORPHA:158057
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Cardiomyopathy, Skeletal myopathy, Rhabdomyolysis, Left ventricular hypertrop...	ORPHA:746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Abnormality of neuronal migration, Pachygyria, Abnormal periventricular white matter morphology	OMIM:608840
Al Kaissi Syndrome	High, narrow palate, Torticollis, Broad nasal tip, Depressed nasal bridge, Smooth philtrum, Long ...	OMIM:617694
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Retrognathia, High palate, Choanal atresia, Bilateral cryptorchidism, Bifid uvula, Prominent nasa...	OMIM:300472
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Small cell lung carcinoma, Testicular neoplasm, Female reproductive sys...	ORPHA:71505
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst, Dilatation of the cerebral artery	OMIM:174050
Noonan Syndrome 13	Widely spaced teeth, Duplicated collecting system, Anteverted nares, High palate, Microdontia, Mi...	OMIM:619087
Mycophenolate Mofetil Embryopathy	Tessier cleft, Orofacial cleft, Congenital diaphragmatic hernia, Ectopic kidney, Tracheoesophagea...	ORPHA:268249
Omodysplasia 1	Short nose, Fibular hypoplasia, Rhizomelia, Short tibia, Ventricular septal defect, Pulmonary art...	OMIM:258315
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Retrognathia, Dental crowding, Ventricular hypertrophy, Pulmonic stenosis, Long philtrum, Bicuspi...	OMIM:620654
Thauvin-Robinet-Faivre Syndrome	Ventricular septal defect, Renal cyst, Bifid ureter, Mitral valve prolapse, Thick vermilion borde...	OMIM:617107
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Wide nose, High palate, Abnormality of the dentition, Pulmonic stenosis, Micrognathia, Recurrent ...	OMIM:618282
Delpire-Mcneill Syndrome	Ventricular septal defect, Tracheoesophageal fistula	OMIM:619083
Toriello-Carey Syndrome	Abnormal palate morphology, Short nose, Aganglionic megacolon, Cardiomyopathy, High palate, Pulmo...	ORPHA:3338
Combined Immunodeficiency Due To Dock8 Deficiency	Squamous cell carcinoma of the vulva, Squamous cell carcinoma, Verrucae, Recurrent sinusitis, Pne...	ORPHA:217390
Alkuraya-Kucinskas Syndrome	Short nose, Anteverted nares, High palate, Camptodactyly, Pericardial effusion, Micrognathia, Sma...	OMIM:617822
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Abnormal renal morphology, Choanal atresia, Camptodactyly, Fused labia minora, Malar flattening, ...	OMIM:207410
Adenine Phosphoribosyltransferase Deficiency	Hematuria, Nephrolithiasis, Urolithiasis, Oliguria, Renal insufficiency, 2,8-dihydroxyadenine cry...	OMIM:614723
Diaphanospondylodysostosis	Short nose, Enlarged kidney, Nephroblastomatosis, Missing ribs, Depressed nasal ridge, Micrognath...	OMIM:608022
Mucolipidosis Type Ii	Abnormal aortic valve morphology, Knee flexion contracture, Patent foramen ovale, Gingival overgr...	ORPHA:576
Short-Rib Thoracic Dysplasia 12	Short ribs, Intestinal malrotation, Splenomegaly, Cystic renal dysplasia, Short finger, Patent fo...	OMIM:269860
Oncogenic Osteomalacia	Carcinoma, Neoplasm of head and neck, Giant cell tumor of bone, Neoplasm of the skeletal system, ...	ORPHA:352540
Walker-Warburg Syndrome	Abnormal cortical gyration, Hydrocephalus, Polymicrogyria, Microcephaly, Abnormality of neuronal ...	ORPHA:899
Greig Cephalopolysyndactyly Syndrome	Hypospadias, Abnormal muscle fiber morphology, Anal atresia, Camptodactyly of toe, Abnormal heart...	OMIM:175700
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Hypoplasia of penis, Bifid scrotum, Anosmia, Short dista...	ORPHA:1295
Wiedemann-Steiner Syndrome	Short columella, Wide nose, Contracture of the distal interphalangeal joint of the fingers, Hypod...	OMIM:605130
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Hypospadias, Anteverted nares, Anomalous pulmonary venous return...	ORPHA:2311
Alzahrani-Kuwahara Syndrome	Long philtrum, Hypospadias, Hypodontia, Narrow philtrum, Patent foramen ovale, Coronary sinus enl...	OMIM:619268
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hydrocephalus, Polymicrogyria, Type II lissencephaly, Gray matter hetero...	ORPHA:370959
Renpenning Syndrome 1	Hypospadias, Short philtrum, Phimosis, Camptodactyly, Cleft palate, Malar flattening, Bulbous nos...	OMIM:309500
Holt-Oram Syndrome	Atrioventricular canal defect, Abnormal aortic morphology, Anomalous pulmonary venous return, Pho...	ORPHA:392
Fabry Disease	Abnormal endocardium morphology, Abnormal renal tubule morphology, Glomerulopathy, Abnormal aorti...	ORPHA:324
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Short nose, Hemiatrophy of upper limb, Anteverted nares, High palate, Micrognathia, Cleft palate,...	ORPHA:163649
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
2P15P16.1 Microdeletion Syndrome	Retrognathia, Multicystic kidney dysplasia, Prominent nasal tip, High palate, Everted lower lip v...	ORPHA:261349
Arima Syndrome	Polyuria, Nephronophthisis, Hematuria, Hepatomegaly, Tubulointerstitial fibrosis, Polycystic kidn...	OMIM:243910
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Thick corpus callosum, Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Microgastria-Limb Reduction Defect Syndrome	Renal hypoplasia/aplasia, Amelia, Tracheoesophageal fistula, Intestinal malrotation, Aplastic cla...	ORPHA:2538
Restrictive Dermopathy	Transposition of the great arteries, Ureteral duplication, Dextrocardia, Hypospadias, Ascending t...	ORPHA:1662
Fanconi Anemia, Complementation Group B	Esophageal atresia, Tracheoesophageal fistula, Hypergonadotropic hypogonadism, Renal agenesis, Bi...	OMIM:300514
Noonan Syndrome 5	Mandibular prognathia, Hypertrophic cardiomyopathy, Pulmonic stenosis, Wide mouth, Thick vermilio...	OMIM:611553
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Cryptorchidism, Coarctation of aorta, Micrognathia, Patent ductus arteriosus, Atr...	OMIM:614857
Glycosylphosphatidylinositol Biosynthesis Defect 17	Microcephaly, Dysplastic corpus callosum	OMIM:618010
Glycogen Storage Disease Due To Acid Maltase Deficiency	Glycogen accumulation in muscle fiber lysosomes, Dilatation of the cerebral artery, Hepatomegaly,...	ORPHA:365
Diamond-Blackfan Anemia 5	Ventricular septal defect, Hypospadias	OMIM:612528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Hydrocephalus, Progressive microcephaly, Type II lissencephaly, Agyria, Microcephaly, Agenesis of...	OMIM:615249
Fanconi Anemia, Complementation Group N	Hypoplasia of the radius, Unilateral renal agenesis, Ectopic kidney, Pelvic kidney, Anal atresia,...	OMIM:610832
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Chalazion, Secundum atrial septal defect, Patent ductus arteriosus, Bicuspid aortic valve, Depres...	OMIM:613355
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Patent ductus arteriosus, Dysplastic pulmonary valve, Anteverted nares, Righ...	OMIM:612863
Dextrocardia	Situs inversus totalis, Dextrocardia, Meckel diverticulum, Abnormal renal morphology, Pancreatic ...	ORPHA:1666
Stromme Syndrome	Short columella, Intestinal malrotation, Micrognathia, Hydronephrosis, Wide mouth, Cleft palate, ...	OMIM:243605
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Reduced cereb...	OMIM:620156
Omodysplasia 2	Fibular hypoplasia, Hypospadias, Labial hypoplasia, Bifid nasal tip, Rhizomelic arm shortening, C...	OMIM:164745
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Anteverted nares, Narrow mouth, Hypertrophic cardiomyopathy, Micrognathia, Micropen...	OMIM:618810
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Rectovaginal fistula, Choanal atresia, Anal atresia, Intestinal malrotation...	OMIM:270420
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Short nose, Cryptorchidism, Hypospadias, Depressed nasal bridge	OMIM:616910
Car T Cell Therapy-Associated Cytokine Release Syndrome	Respiratory failure, Pulmonary edema, Pleural effusion	ORPHA:542323
Pulmonary Alveolar Microlithiasis	Pneumothorax, Pleural thickening, Respiratory insufficiency, Bronchitis, Respiratory failure, Int...	ORPHA:60025
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplasia of the corpus callosum, Dysgenesis of the basal ganglia, Hypoplastic anterior commissu...	OMIM:600638
Bone Dysplasia, Lethal Holmgren Type	Hepatomegaly, Rhizomelia, Anteverted nares, Short ribs, Hypertrophic cardiomyopathy, Micromelia, ...	ORPHA:1842
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Short nose, Tricuspid valve prolapse, High palate, Narrow mouth, Diastasis recti, Arthrogryposis ...	OMIM:601776
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Retrognathia, Long nose, Patent foramen ovale, Pulmonary artery atresia, High palate, Short stern...	OMIM:620113
Mosaic Trisomy 20	Abnormality of the kidney, Retrognathia, Ventricular septal defect, Abnormal mitral valve morphol...	ORPHA:1724
Shashi-Pena Syndrome	Retrognathia, Dilation of Virchow-Robin spaces, Unilateral renal agenesis, Limb hypertonia, Short...	OMIM:617190
Diaphanospondylodysostosis	Cleft palate, Multiple renal cysts, Missing ribs	ORPHA:66637
Hajdu-Cheney Syndrome	Partial absence of toe, Aortic valve stenosis, Intestinal malrotation, Multiple renal cysts, Sple...	ORPHA:955
Cutis Laxa, Autosomal Recessive, Type Iic	Dental crowding, Nephrocalcinosis, Mitral valve prolapse, Long philtrum, Anteverted nares, Patent...	OMIM:617402
Van Esch-O'Driscoll Syndrome	Pulmonary valve atresia, Retrognathia, Short nose, Esophageal atresia, Tracheoesophageal fistula,...	OMIM:301030
Ruvalcaba Syndrome	Thin vermilion border, Short nose, Hematuria, Dental crowding, Narrow mouth, Short metacarpal, Mi...	ORPHA:3121
Aredyld Syndrome	Advanced eruption of teeth, Hepatomegaly, Craniofacial hyperostosis, Abnormal dental enamel morph...	ORPHA:1133
Peutz-Jeghers Syndrome	Esophageal neoplasm, Intestinal obstruction, Rectal prolapse, Abnormality of the nose, Neoplasm o...	ORPHA:2869
Autosomal Recessive Polycystic Kidney Disease	Acute kidney injury, Enlarged kidney, Protein-losing enteropathy, Renal insufficiency, Polycystic...	ORPHA:731
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Anteverted nares, Missing ribs, Camptodactyly of finger, Malar f...	ORPHA:1488
Fg Syndrome Type 1	Small pituitary gland, Dental crowding, Wide mouth, Mitral valve prolapse, Malrotation of colon, ...	ORPHA:93932
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Alazami Syndrome	Widely spaced teeth, Short philtrum, Wide nose, Wide mouth, Thick vermilion border, Malar flatten...	ORPHA:319671
Sweeney-Cox Syndrome	Short philtrum, Low hanging columella, Short clavicles, Patent foramen ovale, High palate, Narrow...	OMIM:617746
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Patent ductus arteriosus, Anteverted nares, Pulmonary artery atresia, Supravalvar pulmonary steno...	OMIM:618164
Odontochondrodysplasia	Retrognathia, Short nose, Delayed eruption of teeth, Micromelia, Short palm, Dentinogenesis imper...	ORPHA:166272
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Widely spaced teeth, Delayed eruption of teeth, Conical tooth, Abnormal dental enamel morphology,...	ORPHA:1071
Ellis-Van Creveld Syndrome	Epispadias, Hypospadias, Delayed eruption of teeth, Abnormal alveolar ridge morphology, Short rib...	OMIM:225500
Bartsocas-Papas Syndrome 1	Ectopic kidney, Short metacarpal, Absent thumb, Absent radius, Patent foramen ovale, Bicornuate u...	OMIM:263650
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Meckel diverticulum, Aplasia of the left hemidiaphragm, Intestin...	ORPHA:2847
Microphthalmia With Limb Anomalies	Retrognathia, Fibular hypoplasia, Short nose, Camptodactyly of 2nd-5th fingers, Flared nostrils, ...	OMIM:206920
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Short ribs, Microdontia, Bifid uvula, Wide mouth, Accessory oral frenulum, ...	OMIM:266920
Distal Duplication 17Q	Rhizomelia, Short philtrum, Vesicoureteral reflux, High palate, Micrognathia, Abnormal heart morp...	ORPHA:3379
Zttk Syndrome	Bifid uvula, Short philtrum, Abnormality of the dentition, Patent ductus arteriosus, Submucous cl...	OMIM:617140
Congenital Muscular Dystrophy Without Intellectual Disability	Microcephaly, Abnormal cerebral white matter morphology, Pachygyria, Gray matter heterotopia	ORPHA:370980
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Fibular hypoplasia, Rhizomelia, Short tibia, Short ribs, Renal cyst, Anal atresia, Prominent nose...	OMIM:616300
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Respiratory failure, Recurrent respiratory infections	ORPHA:98905
Peroxisome Biogenesis Disorder 11A (Zellweger)	Anteverted nares, Depressed nasal bridge, Multiple renal cysts, Renal cyst	OMIM:614883
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Bifid scrotum, Short metacarpal, Absent tibia, Aplasia/hypoplasi...	OMIM:609945
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure	ORPHA:445038
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Polycystic kidney dysplasia, Renal angiomyolipoma	OMIM:600273
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Recurrent lower respiratory tract infections, Respiratory insufficiency, Dysphagia, ...	ORPHA:258
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Bilateral cleft palate, Abnormal aortic morphology, Intestinal malrotation, Micrognathia, Bifid t...	ORPHA:2001
Cerebrocostomandibular Syndrome	Short hard palate, Glossoptosis, Micrognathia, Cleft palate, Ventricular septal defect, Multicyst...	ORPHA:1393
Restrictive Dermopathy 1	Ureteral duplication, Hypospadias, Short clavicles, Narrow nasal ridge, Temporomandibular joint a...	OMIM:275210
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Ectopic kidney, Unilateral renal agenesis, Azoospermia, Bicornuate uterus, Renal agenesis, Cleft ...	OMIM:601076
Goldberg-Shprintzen Syndrome	Aganglionic megacolon, Short philtrum, Limb hypertonia, Oligodontia, Vesicoureteral reflux, Evert...	OMIM:609460
Costello Syndrome	Narrow palate, Thick lower lip vermilion, Abnormal dental enamel morphology, Ventricular septal d...	ORPHA:3071
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ...	ORPHA:247806
Aarskog-Scott Syndrome	Short nose, Hypodontia, Anteverted nares, Short 5th finger, Short foot, Bilateral cryptorchidism,...	OMIM:305400
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Retrognathia, Joint contracture of the 5th finger, Patent foramen ovale, Mandibular prognathia, J...	OMIM:618914
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Retrognathia, Temporomandibular joint ankylosis, Absent thumb, W...	OMIM:154400
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thick lower lip vermilion, Patent foramen ovale, Everted lower lip vermilion, Wide mouth, Tented ...	OMIM:620075
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Hypospadias, Renal insufficiency, Uric acid nephrolithiasis, High palate, Urolithiasi...	OMIM:300661
Baker-Gordon Syndrome	Short nose, Prominent nasal tip, Thin upper lip vermilion, Smooth philtrum	OMIM:618218
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Low hanging columella, Renal cyst, Coarcta...	OMIM:617260
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure, Dysphagia	ORPHA:70472
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Abnormality of the kidney, Aganglionic megacolon, Thick lower lip vermilion, Hypoplasia of penis,...	ORPHA:847
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Pulmonary artery aneurysm, Cleft anterior mitral valve leaflet, Median pseudocleft ...	OMIM:616462
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Abnormal cerebral vascular morphology, Long philtrum, Cardiomegaly, Bicusp...	ORPHA:363705
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Shortening of all distal phalanges of the fingers, Cleft palate, Broad nasal tip, Ten...	OMIM:615716
Paternal Uniparental Disomy Of Chromosome 6	Retrognathia, Hepatomegaly, Gingival overgrowth, Ventricular septal defect, High palate, Prominen...	ORPHA:96191
Histiocytosis-Lymphadenopathy Plus Syndrome	Retrognathia, Flexion contracture of toe, Joint contracture of the 5th finger, Pulmonic stenosis,...	OMIM:602782
Riddle Syndrome	Abnormal pulmonary interstitial morphology, Bronchitis, Neonatal asphyxia, Recurrent sinusitis, R...	ORPHA:420741
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Microcephaly, Abnormality of neuronal migration	ORPHA:2204
Silver-Russell Syndrome 1	Decreased response to growth hormone stimulation test, Hypospadias, Testicular seminoma, Short mi...	OMIM:180860
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Retrognathia, Long nose, Atrioventricular canal defect, Neoplasm of the tongue, Thyroid hypoplasi...	ORPHA:3047
Surfactant Metabolism Dysfunction, Pulmonary, 4	Intraalveolar phospholipid accumulation	OMIM:300770
Autosomal Recessive Omodysplasia	Short nose, Rhizomelia, Anteverted nares, Micromelia, Micrognathia, Mesomelia, Depressed nasal br...	ORPHA:93329
Combined Oxidative Phosphorylation Deficiency 11	Hepatomegaly, Renal tubular acidosis, Cardiomyopathy, Renal cyst, Renal hypoplasia, Renal dysplas...	OMIM:614922
Peters-Plus Syndrome	Bilobate gallbladder, Ureteral duplication, Short metacarpal, Pulmonic stenosis, Long philtrum, A...	OMIM:261540
Myhre Syndrome	Gingival cleft, Bifid uvula, Unilateral cleft lip, Hypogonadism, Abnormal cardiac septum morpholo...	ORPHA:2588
Macrocephaly/Autism Syndrome	Short nose, Hepatomegaly, Dilation of Virchow-Robin spaces, High palate, Splenomegaly, Long philt...	OMIM:605309
Prolidase Deficiency	Short nose, Hepatomegaly, High palate, Hyperimidodipeptiduria, Micrognathia, Splenomegaly, Concav...	OMIM:170100
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Short nose, Decreased response to growth hormone stimulation test, Hypospadias, Hypercalciuria, C...	OMIM:614732
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Conotruncal defect, Cleft palate	OMIM:243440
Digeorge Syndrome	Right aortic arch with mirror image branching, Recurrent sinusitis, Ovarian cyst, Bifid uvula, Sp...	OMIM:188400
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Varicose veins, Ventricular septal defect, Peripheral arterial stenosis, Patent ductus arteriosus	OMIM:126320
Neurocardiofaciodigital Syndrome	Retrognathia, Thin vermilion border, Double inlet left ventricle, Vesicoureteral reflux, High pal...	OMIM:619869
Webb-Dattani Syndrome	Retrognathia, Decreased response to growth hormone stimulation test, Hyposthenuria, Anterior pitu...	OMIM:615926
8Q24.3 Microdeletion Syndrome	Abnormal heart morphology, Long philtrum, Short 5th finger, Ectopic posterior pituitary, Abnormal...	ORPHA:508488
Distal Limb Deficiencies-Micrognathia Syndrome	Aplasia/Hypoplasia of the thumb, High palate, Narrow mouth, Microdontia, Hypoplasia of the maxill...	ORPHA:1307
Intellectual Developmental Disorder, X-Linked 30	Short nose, Anteverted nares, High palate, Thick upper lip vermilion, Prominent nasal bridge, Ope...	OMIM:300558
Double Outlet Left Ventricle	Pulmonary valve atresia, Orofacial cleft, Tricuspid atresia, Double outlet left ventricle, Ventri...	ORPHA:3427
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Mosaic Variegated Aneuploidy Syndrome	Muscular dystrophy, Rhabdomyosarcoma, Intestinal polyposis, Wide nose, Stomach cancer, Abnormal a...	ORPHA:1052
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Retrognathia, Thin vermilion border, Unilateral renal agenesis, Subarterial ventricular septal de...	ORPHA:99646
Tetrasomy 12P	Short nose, Abnormal soft palate morphology, Delayed eruption of teeth, Anteverted nares, Everted...	ORPHA:884
Distal Deletion 6P	Orofacial cleft, Short philtrum, Wide nose, Anteverted nares, Underdeveloped nasal alae, Abnormal...	ORPHA:96125
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect	OMIM:619908
Amish Lethal Microcephaly	Death in infancy, Microcephaly, Spina bifida, Agenesis of corpus callosum, Lissencephaly	ORPHA:99742
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Microdontia of primary teeth, Short nose, Decreased response to growth hormone stimulation test, ...	OMIM:213980
Phosphoribosylaminoimidazole Carboxylase Deficiency	Short nose, Bilateral choanal atresia, Esophageal atresia, Anteverted nares, Choanal atresia, Mis...	OMIM:619859
Holoprosencephaly-Postaxial Polydactyly Syndrome	Orofacial cleft, Renal hypoplasia/aplasia, Hypospadias, Hypoplasia of penis, Thyroid hypoplasia, ...	ORPHA:2166
Intellectual Developmental Disorder, Autosomal Dominant 1	Retrognathia, Short columella, Widely spaced teeth, Short nose, Mandibular prognathia, Everted lo...	OMIM:156200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure, Dysphagia	OMIM:613954
Tatton-Brown-Rahman Syndrome	Short columella, Aortic root aneurysm, Mandibular prognathia, Short toe, Patent ductus arteriosus...	ORPHA:404443
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Nephrolithiasis, Adrenal hyperplasia, Epistaxis, Intracranial hemorrhage...	ORPHA:369929
Contractural Arachnodactyly, Congenital	Knee flexion contracture, Aortic root aneurysm, Elbow flexion contracture, High palate, Wrist fle...	OMIM:121050
Ulnar-Mammary Syndrome	Aplasia of the pectoralis major muscle, Breast aplasia, Hypoplasia of penis, Hypodontia, Ectopic ...	ORPHA:3138
Igg4-Related Aortitis	Intestinal obstruction, Abnormal aortic arch morphology, Thoracic aortic aneurysm, Ascending tubu...	ORPHA:449400
Fraser Syndrome 2	Unilateral renal agenesis, Wide nose, Bilateral renal agenesis, Aplasia of the bladder, Hypoplasi...	OMIM:617666
Edinburgh Malformation Syndrome	Thin vermilion border, Short nose, Anteverted nares, Narrow mouth, Choanal atresia, Micrognathia,...	ORPHA:1895
Gabriele-De Vries Syndrome	Breast hypoplasia, Decreased response to growth hormone stimulation test, Thick lower lip vermili...	ORPHA:506358
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory failure, Respiratory insufficiency due to muscle weakness, Dysphagia	ORPHA:352447
Nphp3-Related Meckel-Like Syndrome	Renal dysplasia, Intestinal malrotation, Multicystic kidney dysplasia	ORPHA:3032
Nabais Sa-De Vries Syndrome, Type 1	Short nose, Vesicoureteral reflux, Prominent nasal bridge, Smooth philtrum, Bulbous nose, Depress...	OMIM:618828
Junctional Epidermolysis Bullosa With Pyloric Atresia	Hematuria, Oral mucosal blisters, Aplasia of the bladder, Congenital pyloric atresia, Ureterocele...	ORPHA:79403
Bardet-Biedl Syndrome	Retrognathia, Hypoplasia of penis, Hypoplasia of the ovary, Dental crowding, Cardiomyopathy, Micr...	ORPHA:110
Catel-Manzke Syndrome	Low insertion of columella, Glossoptosis, Short metacarpal, Short humerus, Bifid uvula, Narrow na...	OMIM:616145
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia, Patent foramen ovale, High palate, Micrognathia, Coronary-pulmon...	OMIM:619699
Distal 22Q11.2 Microduplication Syndrome	Tricuspid valve prolapse, Unilateral renal agenesis, Short philtrum, Wide nose, Mandibular progna...	ORPHA:261337
Macrocephaly-Intellectual Disability-Autism Syndrome	Lymphoid nodular hyperplasia, Short nose, Intestinal polyposis, Penile freckling, Depressed nasal...	ORPHA:210548
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Renal hypoplasia/aplasia...	ORPHA:2911
Koolen-De Vries Syndrome Due To A Point Mutation	Cardiomyopathy, Everted lower lip vermilion, Pulmonic stenosis, Abnormal heart morphology, Bicusp...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Cardiomyopathy, Everted lower lip vermilion, Pulmonic stenosis, Abnormal heart morphology, Bicusp...	ORPHA:363958
Autosomal Dominant Progressive External Ophthalmoplegia	Hypomimic face, Ragged-red muscle fibers, Facial diplegia, Facial palsy, EMG: myopathic abnormali...	ORPHA:254892
Schinzel-Giedion Syndrome	Retrognathia, Broad alveolar ridges, Abnormal heart morphology, Wide mouth, Short distal phalanx ...	ORPHA:798
17Q12 Microduplication Syndrome	Atrial septal defect, Cleft palate, Tracheoesophageal fistula	ORPHA:261272
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Long philtrum, Abnormal palate morphology, Short nose, Microretrognathia	ORPHA:1389
Thoracoabdominal Syndrome	Congenital diaphragmatic hernia, Ectopia cordis, Transposition of the great arteries, Hypospadias...	OMIM:313850
Distal Xq28 Microduplication Syndrome	Thick lower lip vermilion, Dental crowding, Patent foramen ovale, Short lingual frenulum, High pa...	ORPHA:293939
7Q31 Microdeletion Syndrome	Torticollis, Galactosuria, Enuresis nocturna, Prominent nose, Hypoplasia of the maxilla, Wide mou...	ORPHA:251061
Melnick-Needles Syndrome	Tricuspid valve prolapse, Delayed eruption of teeth, Obtuse angle of mandible, Short clavicles, T...	OMIM:309350
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Hypodontia, Abnormal dental enamel morphology, Bilateral cleft palate, Abnormality of the dentiti...	ORPHA:3253
Johnson Neuroectodermal Syndrome	Facial palsy, Everted lower lip vermilion, Anosmia, Choanal atresia, Carious teeth, Cleft palate,...	ORPHA:2316
Mayer-Rokitansky-Küster-Hauser Syndrome	Abnormality of the kidney, Ectopic kidney, Unilateral renal agenesis, Endometriosis, Aplasia of t...	ORPHA:3109
Thanatophoric Dysplasia	Abnormality of the kidney, Micromelia, Patent ductus arteriosus, Atrial septal defect, Depressed ...	ORPHA:2655
Hypoplastic Left Heart Syndrome	Patent ductus arteriosus, Hypoplastic aortic arch, Mitral stenosis, Mitral atresia, Atrial septal...	ORPHA:2248
Orofaciodigital Syndrome Type 4	Retrognathia, Renal hypoplasia/aplasia, Abnormal oral frenulum morphology, Bifid uvula, Short phi...	ORPHA:2753
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Short clavicles, Dental crowding, Premature loss of teeth, High palate, Narrow mouth,...	OMIM:608612
Thanatophoric Dysplasia Type 2	Abnormality of the kidney, Micromelia, Patent ductus arteriosus, Atrial septal defect, Depressed ...	ORPHA:93274
Loeys-Dietz Syndrome 5	Retrognathia, Flexion contracture of toe, Cleft soft palate, Aortic root aneurysm, Patent foramen...	OMIM:615582
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal subclavian artery morphology, Dental crowding, Pulmonic stenosis, Aortic valve stenosis,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal subclavian artery morphology, Dental crowding, Pulmonic stenosis, Aortic valve stenosis,...	ORPHA:353277
Warburg Micro Syndrome 3	Narrow palate, Short nose, Hypoplastic labia minora, Decreased testicular size, Micrognathia, Dow...	OMIM:614222
Nablus Mask-Like Facial Syndrome	Retrognathia, Short nose, Short hallux, Labial hypoplasia, Anteverted nares, Hypoplastic nipples,...	OMIM:608156
Corpus Callosum Agenesis-Neuronopathy Syndrome	Microcephaly, Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Death in childhood, Atelectasis, Respiratory insufficiency, Pulmonary fibrosis, Respiratory failu...	OMIM:618278
Leukemia, Chronic Lymphocytic	Chronic lymphatic leukemia	OMIM:151400
Leukemia, Chronic Lymphocytic, Susceptibility To, 2	Chronic lymphatic leukemia	OMIM:109543
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Hypospadias, Abnormality of the ureter, Abnormal dental morphology, Micrognathia, Convex nasal ri...	ORPHA:2522
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Short philtrum, Anteverted nares, Downturned corners of mouth, Lobulated tongue, Thin...	OMIM:613443
Acrodysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal female external genitalia morphology, ...	ORPHA:950
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory insufficiency, Respiratory failure	OMIM:615330
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Atrial septal defect	OMIM:617744
Criss-Cross Heart	Transposition of the great arteries, Tricuspid stenosis, Pulmonic stenosis, Abnormal mitral valve...	ORPHA:1461
Coach Syndrome 1	Nephronophthisis, Vascular dilatation, Unilateral renal agenesis, Hepatomegaly, Anteverted nares,...	OMIM:216360
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Aortic aneurysm, Recurrent urinary tract infections, Truncus arteriosus, Nar...	ORPHA:261330
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Renal hypoplasia/aplasia, ...	ORPHA:3258
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Short philtrum, Low hanging columella, High palate, Micrognathia, Wide mouth, Thick vermilion bor...	OMIM:300986
Smith-Kingsmore Syndrome	Long philtrum, Short proximal phalanx of finger, Short nose, Rhizomelia, Diastasis recti, Wide mo...	OMIM:616638
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Patent foramen ovale, Notched primary central incisor, Right atrial enlargement, Cleft lip, Peric...	OMIM:620519
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Long philtrum, Low hanging columella, Mandibular prognathia, Bicuspid aortic valve, Atrial septal...	OMIM:619721
Endove Syndrome, Limb-Only Type	Fibular hypoplasia, Disproportionate shortening of the tibia, Aplasia of the distal phalanges of ...	OMIM:619217
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Multicystic kidney dysplasia, Anteverted ...	ORPHA:1001
Attenuated Familial Adenomatous Polyposis	Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c...	ORPHA:220460
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm of the skin, Sarcoma, Neoplasm, Cutaneous melanoma	ORPHA:626
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Narrow palate, Retrognathia, Short nose, Short philtrum, Hypodontia, Narrow mouth, Hypoplasia of ...	OMIM:620250
Radio-Renal Syndrome	Retrognathia, Hypoplasia of the radius, Renal hypoplasia/aplasia, High, narrow palate, Micromelia...	ORPHA:3015
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Enlarged kidney, Abnormal right ventricle morphology, Ventricular septal defect, Camptodactyly, B...	ORPHA:500095
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Atrioventricular canal defect, Abnormal aortic valve morphology,...	ORPHA:1120
Pulmonary Alveolar Proteinosis, Acquired	Lung abscess, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Pneumonia	OMIM:610910
Achondrogenesis Type 1A	Short nose, Anteverted nares, Micromelia, Short palm, Micrognathia, Long philtrum, Short foot	ORPHA:93299
Warsaw Breakage Syndrome	High palate, Ventricular septal defect, Tetralogy of Fallot, Wide mouth	OMIM:613398
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Renal hypoplasia/aplasia, Abnormality of the sphenoid sinus, Abnormal renal morphology, Patent fo...	ORPHA:363700
Microphthalmia, Syndromic 1	Agenesis of maxillary lateral incisor, Orofacial cleft, Renal hypoplasia/aplasia, Hydroureter, Hy...	OMIM:309800
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Retrognathia, Short nose, Anteverted nares, High palate, Recurrent upper respiratory tract infect...	OMIM:614069
Immunodeficiency 89 And Autoimmunity	Bronchiectasis, Pleural thickening, Recurrent lower respiratory tract infections, Pulmonary bulla	OMIM:619632
Orotic Aciduria	Oroticaciduria, Hematuria, Orotic acid crystalluria, Atrial septal defect, Ventricular septal defect	OMIM:258900
Fraser Syndrome 3	Wide nose, Hypoplasia of penis, Bilateral renal agenesis, Hypoplasia of the bladder, Micrognathia...	OMIM:617667
Arthrogryposis, Distal, Type 2A	Flexion contracture of toe, Dental crowding, Wrist flexion contracture, Flexion contracture of fi...	OMIM:193700
Multiple Pterygium Syndrome, X-Linked	Hypoplastic heart, Short finger, Amyoplasia, Depressed nasal ridge, Cleft upper lip, Micrognathia...	OMIM:312150
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Hyposmia, Anosmia, Decreased testicular size, Cleft palate, Bifid nose, Cleft lip, Micropenis, Hy...	OMIM:614838
White-Sutton Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Duplicated collecting system, Short philt...	OMIM:616364
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Glomerular sclerosis, Aplasia of the bladder, Congenital pyloric atresia, Ure...	ORPHA:158684
16Q24.3 Microdeletion Syndrome	Solitary median maxillary central incisor, Anteverted nares, Ventricular septal defect, High pala...	ORPHA:261250
Rhizomelic Chondrodysplasia Punctata, Type 2	Rhizomelia, Anteverted nares, High palate, Micrognathia, Short humerus, Tetralogy of Fallot, Hip ...	OMIM:222765
Trisomy 8Q	Orofacial cleft, Hypoplasia of penis, Non-midline cleft of the upper lip, High palate, Everted lo...	ORPHA:1752
Campomelic Dysplasia	Fibular hypoplasia, 11 pairs of ribs, Male pseudohermaphroditism, Micrognathia, Hydronephrosis, C...	ORPHA:140
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Hypospadias, Cleft soft palate, Anteverted nares, Male pseudohermaphroditism, Microgn...	ORPHA:2282
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Progressive microcephaly, Multifoc...	ORPHA:488627
20Q11.2 Microduplication Syndrome	Tented philtrum, Retrognathia, Short nose, Abnormal nasal bridge morphology, Anteverted nares, Gi...	ORPHA:363659
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Thin vermilion border, Short philtrum, Short lingual frenulum, Narrow mouth, Microdontia, Camptod...	OMIM:617360
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Retrognathia, Anteverted nares, Exaggerated cupid's bow, Diastasis recti, Wrist flexion contractu...	ORPHA:254528
Vacterl Association With Hydrocephalus	Respiratory insufficiency, Respiratory failure, Stillbirth	OMIM:276950
Klippel-Trénaunay Syndrome	Hepatomegaly, Hematuria, Abnormal tricuspid valve morphology, Venous insufficiency, Peripheral ar...	ORPHA:90308
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Retrognathia, Solitary median maxillary central incisor, Dental ...	OMIM:301044
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Glossoptosis, Abnormal heart morphology, Long philtrum, Decreased response to growth hormone stim...	ORPHA:444077
Autosomal Recessive Cutis Laxa Type 2A	Secondary microcephaly, Dysplastic corpus callosum, Thick cerebral cortex, Pachygyria, Primary mi...	ORPHA:357058
Beck-Fahrner Syndrome	Long philtrum, Facial hypotonia, High palate, Open mouth, Cardiomegaly, Ventricular septal defect	OMIM:618798
Congenital Rubella Syndrome	Hepatomegaly, Splenomegaly, Patent ductus arteriosus, Atrial septal defect, Ventricular septal de...	ORPHA:290
Harrod Syndrome	Long nose, Hypospadias, High palate, Narrow mouth, Dental malocclusion, Cryptorchidism, Multicyst...	ORPHA:2115
Achondrogenesis	Short nose, Anteverted nares, Micromelia, Micrognathia, Long philtrum	ORPHA:932
Congenital Neuronal Ceroid Lipofuscinosis	Respiratory failure, Neonatal respiratory distress	ORPHA:168486
Microphthalmia, Syndromic 11	Agenesis of corpus callosum	OMIM:614402
Meckel Syndrome, Type 10	Hypospadias, Renal cyst, Camptodactyly, Cleft palate, Bifid uvula, Micropenis	OMIM:614175
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Decreased response to growth hormone stimulation test, Pelvic kidney, V...	OMIM:603467
Difference Of Sex Development-Intellectual Disability Syndrome	Thin vermilion border, Short nose, Short philtrum, Hypoplasia of penis, Downturned corners of mou...	ORPHA:2983
Achondrogenesis Type 1B	Short nose, Anteverted nares, Micromelia, Micrognathia, Long philtrum, Short foot	ORPHA:93298
Antley-Bixler Syndrome	Short nose, Abnormal renal morphology, Anteverted nares, Narrow mouth, Choanal atresia, Camptodac...	ORPHA:83
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Hypospadias, Aortic valve atresia, Anteverted nares, Bilateral superior vena cava, Hypertrophic c...	OMIM:220111
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Patent foramen ovale, High palate, Everted lower lip vermilion, Cryptorchid...	OMIM:613884
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Hereditary Xanthinuria	Acute kidney injury, Hematuria, Xanthinuria, Recurrent urinary tract infections, Decreased urinar...	ORPHA:3467
Nager Syndrome	Hypoplasia of the radius, Abnormal palate morphology, Unilateral renal agenesis, Aplasia/Hypoplas...	ORPHA:245
Gaucher Disease, Perinatal Lethal	Retrognathia, Everted upper lip vermilion, Hepatomegaly, Short nose, Anteverted nares, Narrow mou...	OMIM:608013
Rhyns Syndrome	Hypopituitarism, Nephronophthisis, Multicystic kidney dysplasia	ORPHA:140976
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Dilated cardiomyopathy, Left ventricular hypertrophy	OMIM:618321
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Respiratory failure, Dysphagia	OMIM:606612
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Cardiomyopathy, Long philtrum, Tooth malposition, Cyst of the ductus choledochus...	ORPHA:480880
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Vascular dilatation, Focal segmental glomerulosclerosis, Renal cyst, Chronic kidney disease, Neph...	OMIM:617056
Cystic Echinococcosis	Abnormality of the diaphragm, Hepatomegaly, Abnormality of the testis size, Renal cyst, Abnormal ...	ORPHA:400
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Hypoplasia of penis, Abnormal intestine morphology...	ORPHA:1606
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Arteria lusoria, Anomalous origin of left pulmonary artery from ascending aorta, Transposition of...	ORPHA:99050
X-Linked Intellectual Disability, Armfield Type	Galactosuria, Short philtrum, Mandibular prognathia, Organic aciduria, Short foot, Micrognathia, ...	ORPHA:85276
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, High palate, Cleft palate, Limb hypertonia	ORPHA:488613
Congenital Disorder Of Glycosylation, Type Iia	Retrognathia, Thin vermilion border, Low hanging columella, Mandibular prognathia, Gingival overg...	OMIM:212066
Charge Syndrome	Bifid scrotum, Anosmia, Tracheoesophageal fistula, Abnormal cardiac septum morphology, Abnormal s...	ORPHA:138
Congenital Disorder Of Glycosylation, Type Ig	Hypoplasia of the radius, Rhizomelia, Hypospadias, Short philtrum, Wide nose, Short tibia, Patent...	OMIM:607143
Microcephaly 20, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Microlissencephaly, Small cerebral cortex, Microcephaly, Simpl...	OMIM:617914
Atrial Septal Defect, Ostium Primum Type	Left atrial enlargement, Right atrial enlargement, Left ventricular hypertrophy, Right ventricula...	ORPHA:99106
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Retrognathia, Abnormal female external genitalia morphology, Vascular dilatation, Patent ductus a...	ORPHA:2637
17Q23.1Q23.2 Microdeletion Syndrome	Widely spaced teeth, Patellar hypoplasia, Narrow mouth, Congenital contracture, Bifid nose, Malar...	ORPHA:261279
Cowden Syndrome 1	Carcinoma, Fibroadenoma of the breast, Hamartomatous polyposis, Transitional cell carcinoma of th...	OMIM:158350
Geleophysic Dysplasia 2	Short nose, Hepatomegaly, Tricuspid stenosis, Aortic valve stenosis, Short palm, Mitral stenosis,...	OMIM:614185
Mucopolysaccharidosis-Plus Syndrome	Enlarged kidney, Hepatomegaly, Wide nose, Focal segmental glomerulosclerosis, Hypertrophic cardio...	OMIM:617303
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Anteverted nares, Glossoptosis, Renal cyst, Multicystic kidney dysplasia, Underdevelo...	ORPHA:2031
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Unilateral renal dysplasia, Aplasia/Hypoplasia ...	OMIM:184705
Cebalid Syndrome	Congenital diaphragmatic hernia, Short nose, Anteverted nares, High palate, Depressed nasal ridge...	OMIM:618774
Caroli Disease	Hepatomegaly, Cholelithiasis, Polycystic kidney dysplasia, Esophageal varix, Splenomegaly	ORPHA:53035
Distal Deletion 19P	Pulmonary valve atresia, Tricuspid valve prolapse, Short philtrum, Vaginal hernia, Hypoplasia of ...	ORPHA:96129
Bainbridge-Ropers Syndrome	Retrognathia, Contracture of the proximal interphalangeal joint of the 4th finger, Dental crowdin...	OMIM:615485
Marshall Syndrome	Short nose, Thick lower lip vermilion, Anteverted nares, High palate, Abnormality of the dentitio...	ORPHA:560
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Hydrocephalus, Polymicrogyria, Microcephaly, Agenesis of corpus callosum	OMIM:225790
Hypouricemia, Renal, 1	Acute kidney injury, Renal tubular epithelial necrosis, Uric acid nephrolithiasis, Renal cortical...	OMIM:220150
White Forelock With Malformations	Abnormal palate morphology, Atrial septal defect, Deep philtrum	ORPHA:2475
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Marshall-Smith Syndrome	Short mandibular rami, Retrognathia, Glossoptosis, Microdontia, Eclabion, Short distal phalanx of...	OMIM:602535
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Abnormality of canine, Aplasia of the distal phalanx of the 5th toe, Oligodontia, Exa...	ORPHA:364577
3Q29 Microduplication Syndrome	Ectopic anus, High palate, Abnormality of the dentition, Camptodactyly of toe, Cleft palate, Vent...	ORPHA:251038
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Retrognathia, Premature thelarche, Aortic valve stenosis, Abnormal heart morphology, Dilatation o...	ORPHA:268261
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Retrognathia, Periodontitis, Premature loss of teeth, Precocious puberty, Hydronephrosis, Short t...	OMIM:619269
Multicystic Dysplastic Kidney	Enlarged kidney, Unilateral renal agenesis, Ureterovesical junction obstruction, Vesicoureteral r...	ORPHA:1851
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Dysphagia, Motor stereot...	ORPHA:496641
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Neuropathy, Congenital Hypomyelinating, 3	Respiratory insufficiency, Respiratory failure, Neonatal death	OMIM:618186
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Clitoral hypertrophy, Hypospadias, Ovotestis, Histiocytoid cardi...	OMIM:309801
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Patent foramen ovale, Hydrocele testis	OMIM:618832
Noonan Syndrome 2	Abnormal coronary artery origin, Cardiomyopathy, Pulmonic stenosis, Wide mouth, Mitral valve prol...	OMIM:605275
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Campomelic Dysplasia	Absent sternal ossification, Abnormal heart morphology, Contracture of the distal interphalangeal...	OMIM:114290
Pyruvate Dehydrogenase E1-Alpha Deficiency	Abnormal medullary pyramid morphology, Ventricular septal defect, Limb undergrowth, Flexion contr...	ORPHA:79243
Axenfeld-Rieger Syndrome, Type 3	Microdontia, Malar flattening, Patent ductus arteriosus, Hypodontia, Atrial septal defect, Concav...	OMIM:602482
Degcags Syndrome	Retrognathia, Pulmonic stenosis, Wide mouth, Long philtrum, Hypospadias, Anteverted nares, Patent...	OMIM:619488
Coronary Arterial Fistula	Atrial septal defect, Vascular dilatation, Cardiomegaly, Bacterial endocarditis, Patent foramen o...	ORPHA:2041
Knobloch Syndrome	Dextrocardia, Vesicoureteral reflux, Pyloric stenosis, Bifid ureter, Patent ductus arteriosus, De...	ORPHA:1571
Phaver Syndrome	Hypoplastic aortic arch, Pulmonary artery atresia, Camptodactyly of finger, Coarctation of aorta,...	ORPHA:2876
Alagille Syndrome 1	Long nose, Short distal phalanx of finger, Stage 5 chronic kidney disease, Hypoplasia of the ulna...	OMIM:118450
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Short nose, Facial diplegia, High palate, Limb muscle weakness, Hypoplasia of the maxilla, Skelet...	OMIM:218000
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Scapular winging, Renal cyst, Carious teeth, Microretrognathia, Dental malocclusion, Wide nasal b...	OMIM:615560
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Hyposmia, Anosmia, Cleft upper lip, Cleft palate, Cryptorchidism, Micr...	OMIM:244200
Dysosteosclerosis	Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Hypoplas...	ORPHA:1782
Ring Chromosome 7 Syndrome	Situs inversus totalis, Thin vermilion border, Short nose, Hypospadias, Short philtrum, Small han...	ORPHA:1449
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Recurrent lower respiratory tract infect...	OMIM:620233
Pallister-Hall Syndrome	Ectopic kidney, Thyroid hypoplasia, Bifid uvula, Small scrotum, Accessory oral frenulum, Hydromet...	ORPHA:672
Glutamine Deficiency, Congenital	Thin vermilion border, Short nose, Anteverted nares, Camptodactyly, Micromelia, Flexion contractu...	OMIM:610015
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Cleft hard palate, Delayed eruption of teeth, Hypercalciuria, Dental crowding, Patent foramen ova...	OMIM:300990
Tuberous Sclerosis 1	Adenoma sebaceum, Cardiac rhabdomyoma, Gingival fibromatosis, Renal cell carcinoma, Renal cyst, P...	OMIM:191100
Cohen Syndrome	High, narrow palate, Short philtrum, Gingival overgrowth, Ventricular septal defect, Abnormality ...	ORPHA:193
Helsmoortel-Van Der Aa Syndrome	Enlarged kidney, Everted lower lip vermilion, Microdontia, Short lower limbs, Abnormal heart morp...	OMIM:615873
Cornelia De Lange Syndrome	Congenital diaphragmatic hernia, Hypoplasia of penis, Intestinal malrotation, Long philtrum, Hypo...	ORPHA:199
Leukodystrophy, Hypomyelinating, 10	Thin vermilion border, Short nose, Anteverted nares, Malar flattening, Smooth philtrum, Skeletal ...	OMIM:616420
Monosomy 13Q34	Pulmonic stenosis, Common atrium, Micrognathia, Fetal pyelectasis, Epistaxis, Broad nasal tip, Pr...	ORPHA:96168
X Small Rings	Long philtrum, Aortic root aneurysm, Upper limb undergrowth, Anteverted nares, Mitral stenosis, F...	ORPHA:96201
Desmoid Tumor	Intestinal obstruction, Hydronephrosis, Intestinal polyposis, Abnormality of the upper urinary tract	ORPHA:873
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma	ORPHA:43393
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Short nose, Enlarged kidney, Patent foramen ovale, Hypertrophic cardiomyopathy, Nephrotic syndrom...	ORPHA:505248
Leber Congenital Amaurosis	Abnormality of neuronal migration, Encephalocele	ORPHA:65
Severe Neurodegenerative Syndrome With Lipodystrophy	Hyperactivity, Respiratory failure	ORPHA:363400
Developmental Delay With Variable Neurologic And Brain Abnormalities	Microcephaly, Thin corpus callosum, Gray matter heterotopia	OMIM:619694
Rhombencephalosynapsis	Short nose, Aganglionic megacolon, Esophageal atresia, Abnormal renal morphology, Anteverted nare...	ORPHA:59315
Ctcf-Related Neurodevelopmental Disorder	Thin vermilion border, Short columella, Short nose, Short philtrum, Joint contracture of the 5th ...	ORPHA:363611
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure	OMIM:312170
Developmental And Epileptic Encephalopathy 102	Situs inversus totalis, Atrial septal defect, Hepatomegaly	OMIM:619881
17Q12 Microdeletion Syndrome	Renal hypoplasia/aplasia, Renal insufficiency, Pancreatic aplasia, Ureterocele, Shawl scrotum, Cr...	ORPHA:261265
Autosomal Dominant Robinow Syndrome	Retrognathia, Hypoplasia of penis, Long philtrum, Anodontia, Hypospadias, Short philtrum, Antever...	ORPHA:3107
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma	ORPHA:357154
Lathosterolosis	Bilobate gallbladder, Ambiguous genitalia, male, Short nose, Anteverted nares, Prominent nasal ti...	OMIM:607330
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Hematuria, Renal insufficiency, Renal cyst, Dilatation of the cerebral artery, Lacunar stroke, Re...	OMIM:611773
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Anomalous origin of right pulmonary artery from ascending aorta, Coarctatio...	OMIM:610338
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Short nose, External genital hypoplasia, Hepatomegaly, High palate, Micrognathia, Dental malocclu...	ORPHA:329178
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Anteverted nares, Short ribs, Limb undergrowth, Patent ductus arteriosus, Depressed n...	OMIM:618961
Smooth Muscle Dysfunction Syndrome	Dilatation of the cerebral artery, Vascular dilatation, Common carotid artery aneurysm, Brachioce...	OMIM:613834
Congenital Heart Defects, Multiple Types, 7	Right aortic arch, Absence of the pulmonary valve, Pulmonary artery atresia, Double aortic arch, ...	OMIM:618780
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Short nose, Hypoplasia of penis, Abnormal dental enamel morphology, Microdontia, Cl...	ORPHA:1812
Cousin Syndrome	Ambiguous genitalia, male, Fibular aplasia, Rhizomelia, Wrist flexion contracture, Camptodactyly,...	OMIM:260660
Septooptic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum	OMIM:182230
Multiple Mitochondrial Dysfunctions Syndrome 1	Respiratory insufficiency, Respiratory failure, Neonatal death, Death in infancy	OMIM:605711
Fetal Hydantoin Syndrome	Short nose, Bifid scrotum, Everted lower lip vermilion, Depressed nasal ridge, Cleft palate, Wide...	ORPHA:1912
Ullrich Congenital Muscular Dystrophy	Respiratory failure	ORPHA:75840
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Cutaneous leiomyosarcoma, Renal cell carcinoma, Renal cyst, Large intestinal poly...	OMIM:135150
Vitamin K Antagonist Embryofetopathy	Short nose, Anteverted nares, Choanal atresia, Short distal phalanx of finger, Macroglossia, Depr...	ORPHA:1914
Cardiomyopathy, Dilated, 1Oo	Atrial septal defect, Dilated cardiomyopathy	OMIM:620247
Tetraamelia-Multiple Malformations Syndrome	Orofacial cleft, Narrow mouth, Missing ribs, Anal atresia, Micrognathia, Tetraamelia, Vaginal atr...	ORPHA:3301
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Short distal phalanx of toe, Prominent nose, Abnormal mitral valve morphology, Wide mouth, Malar ...	ORPHA:1292
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Short nose, Short philtrum, Wide nose, Anteverted nares, Oligodontia, Narrow mouth, Hypoplasia of...	ORPHA:391408
Gm1 Gangliosidosis	Mandibular prognathia, Gingival overgrowth, Cardiomyopathy, Narrow mouth, Aplasia/Hypoplasia of t...	ORPHA:354
X-Linked Intellectual Disability, Cantagrel Type	Shawl scrotum, Short nose, Tented upper lip vermilion, Short philtrum	ORPHA:85277
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Rhizomelia, Wide nose, Mandibular prognathia, Short metacarpal, Depressed nasal ridge...	ORPHA:2831
Frontofacionasal Dysplasia	Tessier cleft, Short nose, Non-midline cleft of the upper lip, Dimple on nasal tip, Bifid nasal t...	ORPHA:1791
Temtamy Preaxial Brachydactyly Syndrome	Short nose, Abnormality of canine, Short hallux, Tooth malposition, Oligodontia, Narrow mouth, Ta...	ORPHA:363417
Congenital Disorder Of Glycosylation, Type Ia	Steatorrhea, Hepatomegaly, Proximal tubulopathy, Cardiomyopathy, Renal cyst, Hypergonadotropic hy...	OMIM:212065
Diamond-Blackfan Anemia	Abnormality of the thenar eminence, Hypospadias, Cleft soft palate, High palate, Adenocarcinoma o...	ORPHA:124
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Hypospadias, Duodenal atresia, Low hanging columella, Ventricula...	OMIM:618846
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:614299
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Protruding tongue, Sinusitis, Micrognathia, Malar flattening, Macro...	OMIM:242860
Skin Creases, Congenital Symmetric Circumferential, 2	Hypospadias, Narrow mouth, Microdontia, Ureterocele, Carious teeth, Short palm, Micrognathia, Cle...	OMIM:616734
Hypomelanosis Of Ito	Microcephaly, Cerebral atrophy, Gray matter heterotopia	OMIM:300337
Nocardiosis	Pneumothorax, Anorexia, Emphysema, Pleuritis, Pleural effusion, Pneumonia, Respiratory failure	ORPHA:31204
Intellectual Developmental Disorder, X-Linked 98	Thin vermilion border, Long nose, Urinary incontinence, Short nose, Short philtrum, Lower limb am...	OMIM:300912
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Dental crowding, Ventricular septal defect, High ...	ORPHA:2789
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Dysphagia	OMIM:618233
Dermatomyositis	Abnormal pulmonary interstitial morphology, Lymphoma, Gastrointestinal stroma tumor, Lung adenoca...	ORPHA:221
Diamond-Blackfan Anemia 1	Retrognathia, Hypoplasia of the radius, Hypoplastic coccygeal vertebrae, 11 pairs of ribs, High p...	OMIM:105650
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Hydronephrosis	OMIM:618060
Pontocerebellar Hypoplasia, Type 8	Anteverted nares, Patent foramen ovale, Arthrogryposis multiplex congenita, Tented upper lip verm...	OMIM:614961
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Overriding aorta, Ventricular septal defect, Hematuria, Patent ductus arteriosus	OMIM:617021
Yunis-Varon Syndrome	Clitoral hypertrophy, Broad secondary alveolar ridge, Absent sternal ossification, Short ribs, Ca...	ORPHA:3472
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, High, narrow palate, Delayed eruption of teeth, Facial palsy, Aortic valve stenosis...	ORPHA:2780
Geleophysic Dysplasia 3	Pneumonia, Respiratory failure	OMIM:617809
Desmoplastic Small Round Cell Tumor	Neoplasm of the central nervous system, Neoplasm of the pancreas, Ovarian neoplasm, Testicular ne...	ORPHA:83469
Feingold Syndrome 1	Annular pancreas, Tricuspid atresia, Esophageal atresia, Interrupted aortic arch, Anteverted nare...	OMIM:164280
Netherton Syndrome	Recurrent respiratory infections, Emphysema	ORPHA:634
Schopf-Schulz-Passarge Syndrome	Apocrine hidrocystoma, Poroma, Basal cell carcinoma, Squamous cell carcinoma	OMIM:224750
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Anosmia, Hypogonadism, Short distal phalanx of finger, Depressed ...	OMIM:302950
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Long philtrum, Rhizomelia, Hypospadias, Anteverted nares, Nas...	OMIM:166250
Orofaciodigital Syndrome Xiv	Epispadias, Supernumerary tooth, Aplasia of the epiglottis, Short ribs, Cryptorchidism, Cleft lip...	OMIM:615948
Distal Deletion 9P	Short nose, High, narrow palate, Hypospadias, Abnormality of the dentition, Cleft palate, Wide na...	ORPHA:1642
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Long nose, Distal lower limb muscle weakness, Hepatomegaly, Short nose, Anteverted nares, Gingiva...	ORPHA:508533
Arterial Tortuosity Syndrome	Myocarditis, Abnormal carotid artery morphology, Short nose, Abnormal zygomatic bone morphology, ...	ORPHA:3342
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Tangier Disease	Facial diplegia, Coronary artery stenosis, Accelerated atherosclerosis, Hepatosplenomegaly, Left ...	ORPHA:31150
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Short nose, Hepatomegaly, Low insertion of columella, Dental crowding, Anteverted nares, Underdev...	OMIM:619005
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Long philtrum, Short nose, Mandibular prognathia, Prominent nasal tip, High palate, Hydronephrosi...	OMIM:620330
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	High, narrow palate, Ureteral duplication, Mandibular prognathia, Long philtrum, Duplication of r...	ORPHA:457212
Joubert Syndrome 16	Nephronophthisis, Renal cyst	OMIM:614465
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Williams Syndrome	Abnormal carotid artery morphology, Hypoplasia of penis, Everted lower lip vermilion, Tracheoesop...	ORPHA:904
Lathosterolosis	Short nose, Hepatomegaly, Hypoplasia of penis, Anteverted nares, Gingival overgrowth, High palate...	ORPHA:46059
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Mandibular prognathia, Everted lower lip vermilion, Tented upper lip vermilion, Smoot...	ORPHA:261144
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormality of the kidney, Cheilitis, Aganglionic megacolon, Hydroureter, Abnormal dental enamel ...	ORPHA:2273
Frontometaphyseal Dysplasia 2	Short metacarpal, Pulmonic stenosis, Bifid uvula, Bicuspid aortic valve, Short philtrum, Patent f...	OMIM:617137
Developmental And Epileptic Encephalopathy 49	Dysplastic corpus callosum, Hydrocephalus, Cerebral calcification, Microcephaly, Basal ganglia ca...	OMIM:617281
Eec Syndrome	Orofacial cleft, Decreased response to growth hormone stimulation test, Renal hypoplasia/aplasia,...	ORPHA:1896
C Syndrome	Congenital diaphragmatic hernia, Thin vermilion border, Short nose, Renal hypoplasia/aplasia, Ant...	ORPHA:1308
Orofaciodigital Syndrome Type 2	Abnormal oral frenulum morphology, Tongue nodules, Taurodontia, Talon cusp, Unilateral alveolar c...	ORPHA:2751
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Midclavicular aplasia, Ureteral duplication, Short ribs, Short m...	OMIM:305600
Nijmegen Breakage Syndrome	Long nose, Rhabdomyosarcoma, Anal stenosis, Recurrent urinary tract infections, Choanal atresia, ...	OMIM:251260
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Retrognathia, Intestinal pseudo-obstruction, Fetal megacystis, Short palm, Long philtrum, Cryptor...	ORPHA:73246
Kawasaki Disease	Myocarditis, Cheilitis, Recurrent pharyngitis, Glossitis, Abnormal heart valve morphology, Vascul...	ORPHA:2331
Meckel Syndrome, Type 5	Cleft upper lip, Cleft palate, Renal cyst, Bile duct proliferation	OMIM:611561
Malan Syndrome	Retrognathia, Advanced eruption of teeth, Short nose, Mandibular prognathia, Gingival overgrowth,...	OMIM:614753
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Atrial septal defect, Retrognathia, Patent foramen ovale, Vesicoureteral reflux, Ventricular sept...	ORPHA:438213
Poretti-Boltshauser Syndrome	Gray matter heterotopia, Abnormal periventricular white matter morphology	OMIM:615960
Snakebite Envenomation	Respiratory failure, Neuromuscular dysphagia, Pseudobulbar paralysis	ORPHA:449285
Holoprosencephaly	Congenital diaphragmatic hernia, Solitary median maxillary central incisor, Hypoplasia of penis, ...	ORPHA:2162
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Vascular ring, Skeletal muscle atrophy, Knee flexion contracture, Atrial septal defect, Ventricul...	OMIM:603387
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Carcinoma, Laryngeal carcinoma	OMIM:610644
Congenital Disorder Of Deglycosylation 2	Polymicrogyria, Thin corpus callosum, Partial agenesis of the corpus callosum, Gray matter hetero...	OMIM:619775
Ramos-Arroyo Syndrome	Deviated nasal septum, Aganglionic megacolon, Smooth tongue, Anteverted nares, Narrow mouth, Cari...	ORPHA:1051
Leigh Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:256000
Trichohepatoenteric Syndrome 1	Hepatomegaly, Hypospadias, Galactosuria, Wide nose, Anteverted nares, Narrow mouth, Depressed nas...	OMIM:222470
Gapo Syndrome	Breast hypoplasia, High, narrow palate, Thick lower lip vermilion, Hepatomegaly, Short nose, Tubu...	OMIM:230740
Malignant Atrophic Papulosis	Respiratory failure, Pleural effusion	ORPHA:679
Cornelia De Lange Syndrome 6	Short nose, Atrioventricular canal defect, Anteverted nares, Pulmonary artery atresia, Short palm...	OMIM:620568
Dermotrichic Syndrome	Short nose, Aganglionic megacolon, Aminoaciduria, Depressed nasal bridge	ORPHA:99688
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Pagod Syndrome	Congenital diaphragmatic hernia, Situs inversus totalis, Renal hypoplasia/aplasia, Abnormal aorti...	ORPHA:991
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Cleft palate, Tetralogy of Fallot, Patent ductus arteriosus, Varic...	OMIM:153400
Tbck-Related Intellectual Disability Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, 11 pairs of ribs, Neu...	ORPHA:488632
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Thick lower lip vermilion, Anteverted nares, Tented upper lip vermilion, Thin upper l...	OMIM:619854
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Retrognathia, Short nose, Meckel diverticulum, Thick nasal alae, Micrognathia	ORPHA:163961
Craniodigital-Intellectual Disability Syndrome	Short nose, Micrognathia, Narrow nasal bridge	ORPHA:1514
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Spondylo-Ocular Syndrome	Long philtrum, Thin vermilion border, Ventricular septal defect, Facial hypotonia	ORPHA:85194
Spinocerebellar Ataxia Type 1	Respiratory failure, Dysphagia	ORPHA:98755
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory failure, Dysphagia	OMIM:620166
Pontocerebellar Hypoplasia Type 1	Respiratory failure	ORPHA:2254
2Q31.1 Microdeletion Syndrome	Thin vermilion border, Ventricular septal defect, Everted lower lip vermilion, Bulbous nose, Shor...	ORPHA:251014
X-Linked Dominant Chondrodysplasia Punctata	High palate, Hydronephrosis, Flexion contracture, Hypoplastic cervical vertebrae, Depressed nasal...	ORPHA:35173
16P11.2P12.2 Microdeletion Syndrome	Orofacial cleft, Long nose, Short nose, Anteverted nares, Camptodactyly of finger, Short palm, Op...	ORPHA:261211
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Short nose, Anteverted nares, Pollakisuria, High palate, Camptodactyly, Deep philt...	OMIM:227330
Mowat-Wilson Syndrome	Urinary incontinence, Dental crowding, Bifid scrotum, Everted lower lip vermilion, Pulmonic steno...	ORPHA:2152
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Microdontia, Triangular mouth, Anteverted nares, Elbow flexion contracture, Malar flattening, Pat...	OMIM:300868
45,X/46,Xy Mixed Gonadal Dysgenesis	Ambiguous genitalia, male, Bifid scrotum, Bicuspid aortic valve, Abnormality of the kidney, Short...	ORPHA:1772
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Pulmonic stenosis, Bifid uvula, Long philtrum, Triangular mouth, Patent foramen ovale, Cryptorchi...	OMIM:617506
Intellectual Developmental Disorder, X-Linked 12	Microcephaly, Abnormality of neuronal migration, Abnormal cerebral white matter morphology	OMIM:300957
Orofaciodigital Syndrome Vi	Fibular aplasia, 11 pairs of ribs, Accessory oral frenulum, High palate, Renal agenesis, Incomple...	OMIM:277170
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Hepatomegaly, Dextrocardia, Homocystinuria, Cystathioninuria, Stomatitis, Glossitis, High palate,...	OMIM:277380
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Short philtrum, Depressed nasal ridge, Short palm, Micrognathia, Wide mou...	ORPHA:163966
Codas Syndrome	Atrioventricular canal defect, Rectovaginal fistula, Delayed eruption of teeth, Anteverted nares,...	OMIM:600373
Exstrophy-Epispadias Complex	Urinary incontinence, Bifid penis, Bifid scrotum, Bladder fistula, Bladder duplication, Abnormal ...	ORPHA:322
Myopathy With Extrapyramidal Signs	Hepatomegaly, Anteverted nares, Calf muscle hypertrophy, Splenomegaly, Tented upper lip vermilion...	OMIM:615673
Congenital Tracheal Stenosis	Abnormality of the kidney, Anomalous origin of left pulmonary artery from ascending aorta, Duoden...	ORPHA:141127
Monosomy 9P	Congenital diaphragmatic hernia, Short nose, Hypospadias, Anteverted nares, High palate, Abnormal...	ORPHA:261112
Neurooculorenal Syndrome	Dextrocardia, Tetralogy of Fallot with pulmonary stenosis, Unilateral renal agenesis, Short hallu...	OMIM:620305
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Recurrent respiratory infections, Atelectasis	ORPHA:2314
Granulomatosis With Polyangiitis	Abnormality of the nose, Intestinal obstruction, Glomerulopathy, Prostatitis, Hematuria, Abnormal...	ORPHA:900
Spondylodysplastic Ehlers-Danlos Syndrome	Pulmonic stenosis, Aortic valve stenosis, Hypogonadism, Long philtrum, Anteverted nares, Ascendin...	ORPHA:536471
Fibrochondrogenesis 2	Short nose, Anteverted nares, Short ribs, Micrognathia, Malar flattening	OMIM:614524
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Endove Syndrome, Limb-Brain Type	Recurrent urinary tract infections, Neurogenic bladder, Hydronephrosis, Aplasia of the 3rd finger	OMIM:619218
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Stomatitis, Glossitis, Cleft palate, Abnormal heart morphology, Intrav...	ORPHA:79284
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia, Esophageal atresia, Bifid scrotum, Urethral diverticulum, Anal a...	ORPHA:95706
Histiocytoid Cardiomyopathy	Hepatomegaly, Renal cyst, Stroke-like episode, Cleft palate, Cardiomegaly, Polycystic ovaries, Ve...	ORPHA:137675
Perlman Syndrome	Distal ileal atresia, Congenital diaphragmatic hernia, Everted upper lip vermilion, Interrupted a...	OMIM:267000
Joubert Syndrome 21	Respiratory failure, Pulmonary hypoplasia, Dysphagia	OMIM:615636
Fanconi Anemia, Complementation Group C	Ectopic kidney, Duplicated collecting system, Ventricular septal defect, Hypergonadotropic hypogo...	OMIM:227645
3Mc Syndrome 2	Hypospadias, Torticollis, Hypoplasia of the musculature, High palate, Diastasis recti, Depressed ...	OMIM:265050
Cerebral Palsy, Spastic Quadriplegic, 3	Microcephaly, Gray matter heterotopia	OMIM:617008
Xanthinuria, Type I	Xanthinuria, Hydronephrosis, Xanthine nephrolithiasis, Pyelonephritis, Myopathy	OMIM:278300
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Short nose, Exaggerated cupid's bow, High palate, Micrognathia, Tented upper lip vermilion, Dista...	OMIM:619833
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Renal artery stenosis, High palate, Renal hypoplasia, Micrognathia, Nephrocalcinosis,...	OMIM:617913
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Patent foramen ovale, Cryptorchidism, Rectoperineal fistula, Coarctation of aorta, Tetralogy of F...	OMIM:618748
Aortic Valve Disease 2	Calcification of the aorta, Aortic aneurysm, Patent foramen ovale, Aortic tortuosity, Pulmonic st...	OMIM:614823
Phocomelia, Schinzel Type	Fibular aplasia, Hypoplasia of the radius, Aplasia/Hypoplasia of the sacrum, Aplasia of the ulna,...	ORPHA:2879
Oculoectodermal Syndrome	Patent ductus arteriosus, Giant cell granuloma of mandible, Transient ischemic attack, Hypertroph...	OMIM:600268
Erdheim-Chester Disease	Abnormal aortic valve morphology, Dysuria, Abnormal pericardium morphology, Hydronephrosis, Renal...	ORPHA:35687
Gomez-Lopez-Hernandez Syndrome	Thin vermilion border, Decreased response to growth hormone stimulation test, Short nose, Antever...	OMIM:601853
Pfeiffer Syndrome	Short nose, Shortening of all middle phalanges of the fingers, Dental crowding, Mandibular progna...	OMIM:101600
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Alg1-Cdg	Respiratory failure	ORPHA:79327
Congenital Disorder Of Glycosylation, Type Ib	Steatorrhea, Lymphangiectasis, Protein-losing enteropathy, Hepatomegaly, Proximal tubulopathy, Re...	OMIM:602579
Limb Body Wall Complex	Congenital diaphragmatic hernia, Ectopia cordis, Abnormality of the kidney, Aplasia/hypoplasia in...	ORPHA:2369
Adenylosuccinase Deficiency	Elevated urinary succinylaminoimidazole carboxamide riboside level, Short nose, Anteverted nares,...	OMIM:103050
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short nose, Carpal bone hypoplasia, Ossifying fibroma of the jaw, Patent foramen ovale, Short met...	ORPHA:457395
Joubert Syndrome 20	Renal cyst	OMIM:614970
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Dental crowding, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, A...	ORPHA:261552
Weill-Marchesani Syndrome 1	Narrow palate, Tooth malposition, Pulmonic stenosis, Hypoplasia of the maxilla, Aortic valve sten...	OMIM:277600
Dubowitz Syndrome	Abnormal female external genitalia morphology, Rectal prolapse, Hypoparathyroidism, Hypospadias, ...	ORPHA:235
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Dental crowding, Bifid scrotum, Pulmonic stenosis, Aortic valve stenosis, A...	ORPHA:261537
Waardenburg Syndrome Type 1	Short nose, Aganglionic megacolon, Mandibular prognathia, Cleft upper lip, Cleft palate, Tented u...	ORPHA:894
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Diastasis recti, Abnormal heart morphology, Ventricular septal defect	ORPHA:254534
Common Variable Immunodeficiency	Emphysema, Recurrent bronchitis, Bronchiectasis, Pneumonia, Recurrent respiratory infections	ORPHA:1572
Congenital Disorder Of Glycosylation, Type Iim	Short philtrum, Vesicovaginal fistula, Mandibular prognathia, Exaggerated cupid's bow, High palat...	OMIM:300896
Williams-Beuren Syndrome	Abnormal renal morphology, Microdontia, Pulmonic stenosis, Nephrocalcinosis, Mitral valve prolaps...	OMIM:194050
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Short nose, Bulbous nose, Wide nasal bridge, Thin upper lip vermilion	OMIM:620292
Tetrasomy 18P	Microcephaly, Abnormality of neuronal migration	ORPHA:3307
Meckel Syndrome, Type 3	Hepatomegaly, Cleft palate, Multicystic kidney dysplasia, Bile duct proliferation	OMIM:607361
5Q14.3 Microdeletion Syndrome	Open mouth, Short nose, Anteverted nares, Short philtrum	ORPHA:228384
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Short ribs, Ventricular septal defect, Ambiguous genitalia, Pancreatic fibrosis, Depressed nasal ...	OMIM:615503
Congenital Myopathy 22B, Severe Fetal	Retrognathia, Dental crowding, Triangular mouth, Short philtrum, Elbow flexion contracture, Limb ...	OMIM:620369
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Ankle flexion contracture, Micrognathia, Natal tooth, Volvulus, Depressed nasal bridge	OMIM:617802
Renal Hypoplasia, Bilateral	Decreased glomerular filtration rate, Vesicoureteral reflux, Beta 2-microglobulinuria, Renal cyst...	ORPHA:97362
Neonatal Inflammatory Skin And Bowel Disease	Perianal dermatitis, Anal fissure, Chapped lip, Left ventricular hypertrophy	ORPHA:294023
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Exaggerated cupid's bow, Depressed nasal tip, Flexion contracture, Smooth philtrum, Long philtrum...	OMIM:619306
Epidermodysplasia Verruciformis	Verrucae, Squamous cell carcinoma	ORPHA:302
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Hypoplasia of penis, Short ribs, Urethrovaginal fistula, Long philtrum, Micromelia, Short palm, D...	ORPHA:93271
Magel2-Related Prader-Willi-Like Syndrome	External genital hypoplasia, Premature pubarche, Small pituitary gland, Narrow nasal bridge, Hypo...	ORPHA:398069
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood, Dysphagia	OMIM:619847
Microlissencephaly-Micromelia Syndrome	Short nose, Hypoparathyroidism, 11 pairs of ribs, Micromelia, Fetal pyelectasis, Long philtrum	ORPHA:50810
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Renal cortical cysts, Vesicoureteral reflux, Cardiomyopathy, Nephr...	OMIM:130650
Thanatophoric Dysplasia Type 1	Abnormality of the kidney, Short femur, Micromelia, Patent ductus arteriosus, Atrial septal defec...	ORPHA:1860
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Coronary artery fistula, Ventricular septal defect, Patent ductus arte...	OMIM:620024
Bardet-Biedl Syndrome 6	Renal cyst, External genital hypoplasia, Hypospadias, Vaginal atresia	OMIM:605231
Autosomal Recessive Spastic Paraplegia Type 20	Abnormal nostril morphology, Increased overbite, Distal amyotrophy, Dysuria, Upper limb muscle we...	ORPHA:101000
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Respiratory failure, Death in infancy	ORPHA:1194
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Abnormal intestine morphology, Micromelia, Cleft pala...	ORPHA:1318
Whim Syndrome	Atelectasis, Bronchiectasis, Recurrent pneumonia, Respiratory tract infection, Recurrent upper re...	ORPHA:51636
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Orofacial cleft, Renal hypoplasia/aplasia, Apla...	ORPHA:3186
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood	OMIM:615838
Geleophysic Dysplasia 1	Joint contracture of the hand, Short nose, Hepatomegaly, Anteverted nares, Tricuspid stenosis, Wr...	OMIM:231050
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Gray matter heterotopia, Microceph...	ORPHA:314679
Orofaciodigital Syndrome Type 14	Epispadias, Supernumerary tooth, Aplasia of the epiglottis, Bilateral cryptorchidism, Bulbous nos...	ORPHA:434179
Monosomy 9Q22.3	Orofacial cleft, Rhabdomyosarcoma, Short nose, Delayed eruption of teeth, Odontogenic keratocysts...	ORPHA:77301
Congenital Tracheomalacia	Pneumothorax, Emphysema, Respiratory insufficiency, Bronchiectasis, Pulmonary hypoplasia, Partial...	ORPHA:95430
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Abnormal palate morphology, Abnormality of canine, Widely spaced teeth, Hypospadias, Anteverted n...	ORPHA:477993
Meckel Syndrome, Type 6	Abnormal internal genitalia, Aplasia of the bladder, Renal cyst, Bile duct proliferation, Cleft u...	OMIM:612284
Ulnar-Mammary Syndrome	Aplasia of the 4th metacarpal, Short humerus, Absent radius, Aplasia of the 3rd metacarpal, Short...	OMIM:181450
Caroli Syndrome	Abnormality of the kidney, Hepatomegaly, Polycystic kidney dysplasia, Esophageal varix, Abnormal ...	ORPHA:480520
Igg4-Related Retroperitoneal Fibrosis	Acute kidney injury, Renal tubular epithelial necrosis, Large vessel vasculitis, Hematuria, Dysur...	ORPHA:49041
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Short finger, Hypospadias, Lower-limb joint contracture, Mandibular prognathia, Narrow mouth, Eve...	ORPHA:459070
Porphyria Due To Ala Dehydratase Deficiency	Agitation, Difficulty walking, Abnormal fear-induced behavior, Depression, Restlessness	ORPHA:100924
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Breast hypoplasia, Short nose, Oligodontia, Narrow mouth, Campto...	ORPHA:1272
Ureterocele	Ureterocele, Duplicated collecting system	OMIM:191650
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, 11 pairs of ribs, Aortic root aneurysm, Aortopulmonary window, Aplasia of the left ...	OMIM:620025
Distal Deletion 3P	Thin vermilion border, Atrioventricular canal defect, Anteverted nares, High palate, Micrognathia...	ORPHA:1620
Noonan Syndrome 7	Abnormal esophagus morphology, Hypertrophic cardiomyopathy, Pulmonic stenosis, Thick vermilion bo...	OMIM:613706
Hypocomplementemic Urticarial Vasculitis	Pleural effusion, Emphysema	ORPHA:36412
Peho Syndrome	Retrognathia, Short nose, Tented upper lip vermilion, Open mouth	OMIM:260565
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory failure, Respiratory tract infection, Respiratory failure requiring assist...	ORPHA:79138
Lacrimoauriculodentodigital Syndrome	Anosmia, Microdontia, Bifid uvula, Absent thumb, Hypoplasia of the radius, Bicornuate uterus, Abn...	ORPHA:2363
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal female external genitalia morphology, Abnormal ovarian morphology, Abnormal male externa...	ORPHA:95699
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Reduced circulating prolactin concentration, Anteverted nares, Anterior pituitary hyp...	OMIM:613038
Lissencephaly 9 With Complex Brainstem Malformation	Ventricular septal defect, Depressed nasal bridge	OMIM:618325
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Advanced eruption of teeth, Widely spaced teeth, Everted lower lip vermilion, Downtur...	OMIM:617865
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Patent foramen ovale, Microdontia, Depressed nasal tip, Renal hypoplasia, Micro...	OMIM:620005
Desbuquois Dysplasia 1	Short nose, Short metatarsal, Narrow mouth, Concave nasal ridge, Malar flattening, Microretrognat...	OMIM:251450
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Short nose, Renal neoplasm, Torticollis, Aortic root aneurysm, Anteverted nares, Ascending tubula...	ORPHA:536467
Bent Bone Dysplasia Syndrome 2	Hepatomegaly, Short 1st metacarpal, Short ribs, Arthrogryposis multiplex congenita, Short sternum...	OMIM:620076
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Hypoplasia of the primary teeth, Agenesis of permanent teeth, Urethrovagina...	OMIM:243800
Ayme-Gripp Syndrome	Long philtrum, Short nose, Mandibular prognathia, Narrow mouth, Abnormality of the dentition, Cam...	OMIM:601088
Metatropic Dysplasia	Respiratory insufficiency, Respiratory failure	OMIM:156530
Townes-Brocks Syndrome 1	Bifid scrotum, Tracheoesophageal fistula, Urethral valve, Aplasia/Hypoplasia of the 3rd toe, Hypo...	OMIM:107480
Pontocerebellar Hypoplasia, Type 10	Short nose, Widely spaced teeth, Limb hypertonia, Low hanging columella, High palate, Bulbous nos...	OMIM:615803
Sotos Syndrome	Ureteral duplication, Agenesis of permanent teeth, Abnormal heart morphology, Congenital posterio...	ORPHA:821
Joubert Syndrome 7	Stage 5 chronic kidney disease, Nephronophthisis, Renal cyst	OMIM:611560
Cutis Laxa, Autosomal Recessive, Type Iid	Retrognathia, Ascending tubular aorta aneurysm, Hypertrophic cardiomyopathy, Bilateral cryptorchi...	OMIM:617403
Holoprosencephaly 9	Solitary median maxillary central incisor, Bilateral cleft palate, Hypoplasia of the premaxilla, ...	OMIM:610829
Phace Association	Vascular dilatation, Aortic aneurysm, Coarctation of aorta, Arterial stenosis, Patent ductus arte...	OMIM:606519
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Tuberous Sclerosis 2	Adenoma sebaceum, Cardiac rhabdomyoma, Gingival fibromatosis, Renal cell carcinoma, Renal cyst, P...	OMIM:613254
Marshall Syndrome	Short nose, Thick lower lip vermilion, Absent frontal sinuses, Anteverted nares, Micrognathia, Bi...	OMIM:154780
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Respiratory failure, Ventilator dependence with inability to wean	OMIM:604320
Otopalatodigital Syndrome, Type I	Short 4th metacarpal, Short nose, Short hallux, Absent frontal sinuses, Selective tooth agenesis,...	OMIM:311300
Combined Oxidative Phosphorylation Deficiency 12	Hypoplasia of the corpus callosum, Leukoencephalopathy, Agenesis of corpus callosum, Dysplastic c...	OMIM:614924
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory failure	OMIM:250940
21Q22.11Q22.12 Microdeletion Syndrome	Thick lower lip vermilion, Acromesomelia, Dental crowding, Anteverted nares, Hypoplastic nipples,...	ORPHA:261323
Liver Disease, Severe Congenital	Left atrial enlargement, Narrow nasal ridge, Biliary hyperplasia, Splenomegaly, Cardiomegaly, Hyp...	OMIM:619991
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Short nose	OMIM:200130
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Dilation of Virchow-Robin spaces, Hypoplastic coccygeal vertebrae, Short philtrum, Low hanging co...	OMIM:619512
Farber Disease	Nodular pattern on pulmonary HRCT, Respiratory insufficiency, Atelectasis, Recurrent upper respir...	ORPHA:333
Esophageal Atresia	Abnormal external genitalia, Barrett esophagus, Esophagitis, Tracheoesophageal fistula, Choanal a...	ORPHA:1199
Carpenter Syndrome 2	Retrognathia, Narrow naris, Long philtrum, Narrow palate, Transposition of the great arteries, An...	OMIM:614976
Mowat-Wilson Syndrome	Bifid scrotum, Pulmonic stenosis, Generalized muscle hypertrophy, Abnormal heart morphology, Abno...	OMIM:235730
Premature Aging Syndrome, Penttinen Type	Retrognathia, Thin vermilion border, Short nose, Delayed eruption of teeth, Narrow philtrum, Shor...	OMIM:601812
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Hydrocephalus, Cerebral calcification, Agenesis of corpus callosum, Hyperintensity of cerebral wh...	OMIM:618476
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal palate morphology, Short nose, Anteverted nares, Narrow mouth, Microdontia, Ureteral ste...	ORPHA:2719
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Short nose, Downturned corners of mouth, Tented upper lip vermilion, Open mouth, Bulbous nose, Th...	OMIM:618430
Cutis Laxa, Autosomal Recessive, Type Ia	Recurrent respiratory infections, Peripheral pulmonary artery stenosis, Emphysema	OMIM:219100
Lymphangioleiomyomatosis	Pneumothorax, Atelectasis, Emphysema, Recurrent respiratory infections, Chylothorax, Pulmonary ly...	ORPHA:538
Cerebellofaciodental Syndrome	Ventricular septal defect, Shortening of all distal phalanges of the fingers, Mitral valve prolap...	OMIM:616202
Ebstein Malformation Of The Tricuspid Valve	Abnormal endocardium morphology, Ebstein anomaly of the tricuspid valve, Imperforate tricuspid va...	ORPHA:1880
Otopalatodigital Syndrome, Type Ii	Hypospadias, Short metatarsal, Short hallux, Rudimentary fibula, Short ribs, Narrow mouth, Short ...	OMIM:304120
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Hypoplasia of the zygomatic bone, Malar flattening, Depressed nasal bridge	ORPHA:2835
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Hematuria, Glycosuria, Proteinuria, Renal interstitial fibrosis, Stage 5 chroni...	OMIM:614817
Myhre Syndrome	Aortic valve stenosis, Generalized muscle hypertrophy, Short finger, Short philtrum, Camptodactyl...	OMIM:139210
Townes-Brocks Syndrome	Ectopic kidney, Hypoplasia of penis, Abnormal vagina morphology, Absent toe, Bifid scrotum, Ureth...	ORPHA:857
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Generalized limb muscle atrophy, Hypospadias, Aortic root aneurysm, Submucous cleft hard palate, ...	OMIM:618891
Keutel Syndrome	Cartilaginous ossification of nose, Short hallux, Pulmonary artery hypoplasia, Pulmonic stenosis,...	OMIM:245150
Poikiloderma With Neutropenia	Retrognathia, Short nose, Underdeveloped nasal alae, Carious teeth, Micrognathia, Recurrent sinus...	OMIM:604173
Joubert Syndrome	Encephalocele, Hydrocephalus, Polymicrogyria, Abnormality of neuronal migration, Aplasia/Hypoplas...	ORPHA:475
Kaposiform Lymphangiomatosis	Enlarged kidney, Epidural hemorrhage, Abnormal lymphatic vessel morphology, Pericardial effusion,...	ORPHA:464329
Diamond-Blackfan Anemia 8	Short nose, Thick upper lip vermilion, Wide nasal bridge	OMIM:612563
Juvenile Polyposis Of Infancy	Midclavicular hypoplasia, Rectal prolapse, Protein-losing enteropathy, High, narrow palate, Freck...	ORPHA:79076
Papillorenal Syndrome	Hematuria, Horseshoe kidney, Vesicoureteral reflux, Mild proteinuria, Nephrolithiasis, Renal cyst...	OMIM:120330
Congenital Fiber-Type Disproportion Myopathy	Aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Dysphagia, Respiratory fa...	ORPHA:2020
Meckel Syndrome, Type 2	Intestinal malrotation, Cleft palate, Renal cyst, Bile duct proliferation	OMIM:603194
Scalp-Ear-Nipple Syndrome	Abnormality of the kidney, Ureteral duplication, Breast aplasia, Delayed eruption of teeth, Recur...	ORPHA:2036
Treacher-Collins Syndrome	Retrognathia, Hypoplasia of penis, Thyroid hypoplasia, Glossoptosis, Tracheoesophageal fistula, T...	ORPHA:861
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Abnormality of the kidney, Hypoplasia of the radius, Supernumerary nipple...	OMIM:263750
Neu-Laxova Syndrome 1	Transposition of the great arteries, Swollen lip, Thick lower lip vermilion, Wide nose, Patent fo...	OMIM:256520
Atelosteogenesis Type I	Rhizomelia, Abnormal pancreatic duct morphology, Micrognathia, Cleft palate, Limb undergrowth, Mu...	ORPHA:1190
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Intestinal obstruction, Rectal atresia, Hypoplasia of the thymus, Intestinal malro...	OMIM:243150
Tetrasomy 5P	Short nose, Short hallux, Anteverted nares, High palate, Micrognathia, Aplasia/Hypoplasia of the ...	ORPHA:3309
Postsynaptic Congenital Myasthenic Syndromes	Respiratory failure	ORPHA:98913
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Pericardial effusion, Persistent left superior vena ...	OMIM:618775
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Short nose, Arteriovenous malformation, Intestinal polyposis, Wide nose, Aortic an...	ORPHA:109
Axial Osteomalacia	Myopathy, Renal cyst	OMIM:109130
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Short columella, Short nose, Aganglionic megacolon, Short philtrum, Mandibular prognathia, Micror...	OMIM:613603
Osteopetrosis With Renal Tubular Acidosis	Retrognathia, Thick lower lip vermilion, Hepatomegaly, Renal tubular acidosis, Tooth malposition,...	ORPHA:2785
Hereditary Orotic Aciduria	Oroticaciduria, Abnormality of the ureter, Orotic acid crystalluria, Splenomegaly, Patent ductus ...	ORPHA:30
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Larsen Syndrome	Short metatarsal, Aortic aneurysm, Ventricular septal defect, Short metacarpal, Cleft upper lip, ...	OMIM:150250
Wolf-Hirschhorn Syndrome	Congenital diaphragmatic hernia, Abnormality of the kidney, Hypospadias, Short philtrum, Short ha...	ORPHA:280
Marshall-Smith Syndrome	Retrognathia, Short nose, Anteverted nares, Gingival overgrowth, Choanal atresia, Protruding tong...	ORPHA:561
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Elbow flexion contracture, Long nasal bridge, Camptodactyly, Arthrogryposis multiplex congenita, ...	OMIM:178110
Meier-Gorlin Syndrome 6	Short nose, Decreased response to growth hormone stimulation test, Anteverted nares, Underdevelop...	OMIM:616835
Adams-Oliver Syndrome 1	Imperforate hymen, Pulmonic stenosis, Aortic valve stenosis, Pulmonary artery stenosis, Cleft pal...	OMIM:100300
Loeys-Dietz Syndrome 2	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:610168
Acrocephalopolydactylous Dysplasia	Short nose, Enlarged kidney, Hepatomegaly, Hypoplasia of the small intestine, Micromelia, Hypopla...	OMIM:200995
Renal Coloboma Syndrome	Multicystic kidney dysplasia, Vesicoureteral reflux, Renal hypoplasia, Renal dysplasia, Renal ins...	ORPHA:1475
Wiedemann-Rautenstrauch Syndrome	Retrognathia, Pulmonic stenosis, Congenital malformation of the left heart, Hypoplastic vertebral...	ORPHA:3455
Peroxisome Biogenesis Disorder 4B	Ureterocele, Short nose, Hepatomegaly	OMIM:614863
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Breast hypoplasia, Long philtrum, Short nose, Narrow mouth, Camptodactyly, Cleft palate, Malar fl...	OMIM:601353
Medullary cystic kidney disease 2	Enuresis, Renal tubular atrophy, Multiple renal cysts, Renal corticomedullary cysts, Stage 5 chro...	OMIM:603860
Spondyloepimetaphyseal Dysplasia, Krakow Type	Annular pancreas, Rhizomelia, Knee flexion contracture, High palate, Mesomelia, Patent ductus art...	OMIM:618162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Anencephaly, Hydrocephalus, Cortical dysplasia, Type II lissencephaly, G...	OMIM:615287
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Autosomal Recessive Cutis Laxa Type 1	Pneumothorax, Emphysema, Respiratory insufficiency, Recurrent pneumonia, Peripheral pulmonary art...	ORPHA:90349
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Ventricular septal defect, Hypoplastic philtrum, Precocious puberty, Intestinal malrotation, Volv...	OMIM:616682
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Respiratory failure, Death in childhood, Restlessness	OMIM:617186
Crane-Heise Syndrome	Hypoplasia of penis, Anteverted nares, Hypoplastic scapulae, Micrognathia, Cleft palate, Short di...	ORPHA:1512
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short nose, Anteverted nares, Prominent veins on trunk, High palate, Carious teeth, Decreased mus...	ORPHA:357074
Pfeiffer Syndrome Type 2	Short nose, Short hallux, High palate, Choanal atresia, Anal atresia, Intestinal malrotation, Cle...	ORPHA:93259
Lethal Kniest-Like Dysplasia	Mesomelic/rhizomelic limb shortening, Short ribs, Hypoplastic vertebral bodies, Cleft palate, Atr...	ORPHA:2347
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Renal Cysts And Diabetes Syndrome	Abnormality of the kidney, Hypospadias, Multiple glomerular cysts, Unilateral renal agenesis, Abn...	OMIM:137920
Cutis Laxa, Autosomal Dominant 1	Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema	OMIM:123700
Peroxisome Biogenesis Disorder 4A (Zellweger)	Hepatomegaly, Depressed nasal bridge, Renal cyst	OMIM:614862
Weill-Marchesani Syndrome 2	Narrow palate, Short finger, Flexion contracture of toe, Short metatarsal, Tooth malposition, Elb...	OMIM:608328
Lymphatic Malformation 13	Patent foramen ovale, Smooth philtrum, Patent ductus arteriosus, Long philtrum, Atrial septal def...	OMIM:620244
Al-Gazali Syndrome	Micrognathia, Hydronephrosis, Wrist flexion contracture	OMIM:609465
Thanatophoric Dysplasia, Type I	Hydrocephalus, Neonatal death, Gray matter heterotopia, Temporal lobe dysplasia	OMIM:187600
De Barsy Syndrome	Hypoplastic aortic arch, Delayed eruption of teeth, Prominent veins on trunk, Ventricular septal ...	ORPHA:2962
Niemann-Pick Disease Type C	Respiratory insufficiency, Compulsive behaviors, Aspiration pneumonia, Abnormal lung morphology, ...	ORPHA:646
D-Bifunctional Protein Deficiency	Retrognathia, Hepatomegaly, High palate, Renal cyst, Bile duct proliferation, Micrognathia, Decre...	OMIM:261515
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure	OMIM:603689
Mayer-Rokitansky-Kuster-Hauser Syndrome	Abnormal female external genitalia morphology, Aplasia of the upper vagina, Multicystic kidney dy...	OMIM:277000
Peho Syndrome	Abnormal palate morphology, Short nose, Anteverted nares, Gingival overgrowth, Malar flattening, ...	ORPHA:2836
Warburg Micro Syndrome 2	Short nose, Prominent nasal bridge, Flexion contracture, Small scrotum, Cryptorchidism, Micropeni...	OMIM:614225
Pterygium Colli, Isolated	Short nose	OMIM:177990
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory failure, Respiratory tract infection	ORPHA:125
Craniofacial Microsomia 1	Transverse facial cleft, Ectopic kidney, Right aortic arch, Vesicoureteral reflux, Maxillozygomat...	OMIM:164210
Cerebrooculonasal Syndrome	Narrow palate, Short nose, Solitary median maxillary central incisor, Proboscis, Anteverted nares...	OMIM:605627
Toriello-Lacassie-Droste Syndrome	Epispadias, Short nose, Aganglionic megacolon, Hypospadias, Abnormality of the bladder, Anteverte...	ORPHA:3339
Pallister-Killian Syndrome	Congenital diaphragmatic hernia, Aplasia of the uterus, Everted lower lip vermilion, Aortic valve...	OMIM:601803
Holoprosencephaly 7	Short nose, Midline defect of the nose, Solitary median maxillary central incisor, Hypoplastic na...	OMIM:610828
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Anteverted nares, Ectopic anterior pituitary gland, Choanal stenosis, Patent ductus arteriosus, A...	OMIM:620558
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Lateral ventricle dilatation, Hyperintensity of cerebral white matter...	ORPHA:544488
Atelosteogenesis, Type I	Fibular aplasia, Short finger, Short nose, Rhizomelia, 11 pairs of ribs, Short metatarsal, Verteb...	OMIM:108720
Blomstrand Lethal Chondrodysplasia	Short nose, Rhizomelia, Anteverted nares, Short ribs, Short metacarpal, Protruding tongue, Coarct...	ORPHA:50945
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Short nose, Anteverted nares, Elbow flexion contracture, Abnormality of the dentition, Downturned...	OMIM:612394
Werner Syndrome	Neoplasm of the oral cavity, Thyroid carcinoma, Renal neoplasm, Ovarian neoplasm, Squamous cell c...	ORPHA:902
Alveolar Echinococcosis	Abnormality of the diaphragm, Abnormal bladder morphology, Abnormal skeletal muscle morphology, R...	ORPHA:284
Mesomelia-Synostoses Syndrome	Short metatarsal, Micromelia, Micrognathia, Hydronephrosis, Mesomelia, Microretrognathia, Convex ...	OMIM:600383
Neurocutaneous Melanocytosis	Death in infancy, Abnormality of neuronal migration, Meningocele	ORPHA:2481
Congenital Disorder Of Glycosylation, Type Iiw	Supernumerary tooth, Hepatomegaly, Bilateral choanal atresia, Wide nose, Underdeveloped nasal ala...	OMIM:619525
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Absence of labia majora, Tented philtrum, Hypospadias, Anteverted nares, Hypoplastic labia minora...	ORPHA:495875
Rothmund-Thomson Syndrome, Type 2	Supernumerary tooth, Annular pancreas, Short nose, Delayed eruption of teeth, Mandibular prognath...	OMIM:268400
Nijmegen Breakage Syndrome	Recurrent pneumonia, Recurrent sinopulmonary infections, Attention deficit hyperactivity disorder...	ORPHA:647
Molybdenum Cofactor Deficiency, Complementation Group A	Short nose, Xanthinuria, Decreased urinary sulfate, Increased urinary taurine, Decreased urinary ...	OMIM:252150
Joubert Syndrome With Oculorenal Defect	Hydrocephalus, Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus callosum, Ence...	ORPHA:2318
Absence Of The Pulmonary Artery	Abnormal hemidiaphragm morphology, Patent foramen ovale, Truncus arteriosus, Abnormal inferior ve...	ORPHA:980
Genitourinary And/Or Brain Malformation Syndrome	Secondary microcephaly, Dysplastic corpus callosum, Polymicrogyria, Gray matter heterotopia, Colp...	OMIM:618820
Fibrodysplasia Ossificans Progressiva	Respiratory insufficiency, Respiratory failure	OMIM:135100
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Mgat2-Cdg	Low hanging columella, Dental crowding, Hypoplastic nipples, Abnormal heart morphology, Recurrent...	ORPHA:79329
19P13.13 Microdeletion Syndrome	Short nose, Anteverted nares, Narrow mouth, High palate, Malar flattening, Smooth philtrum, Macro...	ORPHA:357001
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Hypodontia, Short nose, Flexion contracture, Narrow nasal bridge	ORPHA:544503
Rajab Interstitial Lung Disease With Brain Calcifications 1	Respiratory insufficiency, Respiratory failure, Abnormal pulmonary interstitial morphology, Emphy...	OMIM:613658
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Retrognathia, Long nose, Limb hypertonia, Underdeveloped nasal alae, Atrial septal defect, Depres...	ORPHA:457351
Den Hoed-De Boer-Voisin Syndrome	Amelogenesis imperfecta, Widely spaced teeth, Delayed eruption of teeth, Yellow-brown discolorati...	OMIM:619229
Microphthalmia, Syndromic 3	Hypospadias, Esophageal atresia, Anterior pituitary hypoplasia, Ventricular septal defect, Verteb...	OMIM:206900
Stickler Syndrome	Glossoptosis, Tooth agenesis, Bifid uvula, Mitral valve prolapse, Long philtrum, Advanced eruptio...	ORPHA:828
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Wide mouth, Long philtrum, Hypospadias, Short philtrum, Oligodontia, Camptodactyly, Broad nasal t...	OMIM:309590
Msh3-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the rectum, Stomach cancer, Colorectal polyposis, Ovarian dermoid cyst, Renal cyst, C...	ORPHA:480536
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Absent vas deferens, Acute kidney injury, Glomerulopathy, Aplasia/Hypoplasia of the pancreas, Hyp...	ORPHA:93111
Treacher Collins Syndrome 1	Cleft soft palate, Narrow mouth, Choanal atresia, Micrognathia, Abnormal heart morphology, Wide m...	OMIM:154500
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasia, Hypoplas...	ORPHA:468631
Fraser Syndrome 1	Clitoral hypertrophy, Renal hypoplasia/aplasia, Dental crowding, Abnormal heart morphology, Aplas...	OMIM:219000
Retinoblastoma	Retinoblastoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Pinealoma, Leukemia	OMIM:180200
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Encephalocele, Polymicrogyria, Abnormality of neuronal migration, Pac...	ORPHA:2211
Cutis Laxa, Autosomal Recessive, Type Iia	Short nose, Anteverted nares, Narrow mouth, High palate, Carious teeth, Malar flattening, Long ph...	OMIM:219200
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Bronchiectasis, Interstitial emphysema, Pulmonary hypoplasia, Dysphagia	OMIM:619708
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Abnormal heart morphology, Absent thumb, Bifid uvula, Patent ductus arteriosus after birth at ter...	ORPHA:500150
Occipital Horn Syndrome	Short clavicles, High palate, Ureteral obstruction, Short humerus, Hydronephrosis, Bladder divert...	OMIM:304150
Amyotrophic Lateral Sclerosis	Respiratory failure, Agitation, Dysphagia	ORPHA:803
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Mandibular prognathia, Limb hypertonia	OMIM:618087
Spondylocarpotarsal Synostosis Syndrome	Short nose, Anteverted nares, Scapular winging, Short metacarpal, Renal cyst, Enamel hypoplasia, ...	OMIM:272460
Ivic Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Carpal bone hypoplasia, Hypoplasia of deltoid m...	OMIM:147750
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Rhizomelia, 11 pairs of ribs, Hypoplasia of the calcaneus, Depressed nasal ridge, Dis...	OMIM:300863
Poliomyelitis	Respiratory failure requiring assisted ventilation, Anorexia, Agitation, Dysphagia, Respiratory f...	ORPHA:2912
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Retrognathia, Long philtrum, Thin vermilion border, Rectal prolapse, Short metatarsal, Short nose...	OMIM:617157
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Thin vermilion border, Decreased response to growth hormone stimulation test, Short nose, Mandibu...	OMIM:616007
Peutz-Jeghers Syndrome	Rectal prolapse, Neoplasm of the pancreas, Oral melanotic macule, Precocious puberty with Sertoli...	OMIM:175200
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long nose, Short nose, High palate, Downturned corners of mouth, Wide mouth, Malar flattening, Sm...	OMIM:618590
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Renal cyst, Convex nasal ridge, Wide nasal bridge	OMIM:601539
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Absent cupid's bow, Widely spaced teeth, Lower-limb joint contractur...	ORPHA:513456
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Bifid uvula, Abnormality of the anus, Long philtrum, Bicuspid aortic valve, Short...	OMIM:607872
Osteogenic Sarcoma	Osteosarcoma, Retinoblastoma	OMIM:259500
Trichohepatoneurodevelopmental Syndrome	Steatorrhea, Widely spaced teeth, Hepatomegaly, Cholelithiasis, Dental crowding, Hypoplastic nipp...	OMIM:618268
Xeroderma Pigmentosum, Variant Type	Cutaneous melanoma, Basal cell carcinoma, Squamous cell carcinoma	OMIM:278750
Galloway-Mowat Syndrome	Microcephaly, Aqueductal stenosis, Abnormality of neuronal migration, Pachygyria	ORPHA:2065
Hereditary Motor And Sensory Neuropathy, Type Iic	Respiratory failure, Intercostal muscle weakness	OMIM:606071
Faciocardiomelic Syndrome	Anteverted nares, Common atrium, Micrognathia, Wide mouth, Depressed nasal bridge, Long philtrum,...	OMIM:612731
Autosomal Recessive Faciodigitogenital Syndrome	Short nose, Anteverted nares, Open bite, High palate, Everted lower lip vermilion, Micrognathia, ...	ORPHA:1974
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Atrial septal defect, Hepatomegaly, Patent foramen ovale, Pericardial effusion, Exercise-induced ...	ORPHA:26793
Pfeiffer Syndrome Type 1	Short nose, Short hallux, Aplasia/Hypoplasia of the thumb, High palate, Short palm, Short foot, D...	ORPHA:93258
Ileal Neuroendocrine Tumor	Pulmonic stenosis, Intestinal fistula, Hydronephrosis, Tricuspid stenosis	ORPHA:100078
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Microcephaly, Abnormality of neuronal migration, Cerebral cortical atrophy	ORPHA:2518
Noonan Syndrome	Thick lower lip vermilion, Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hi...	ORPHA:648
Von Hippel-Lindau Disease	Myocarditis, Distal lower limb muscle weakness, Neoplasm of the pancreas, Elevated urinary catech...	ORPHA:892
Alg11-Cdg	Cerebral atrophy, Cerebral white matter atrophy, Gray matter heterotopia, Microcephaly, Abnormal ...	ORPHA:280071
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Short philtrum, Renal tubular acidosis, Ventricular septal defect, Periphera...	OMIM:619575
Hyperparathyroidism-Jaw Tumor Syndrome	Mandibular pain, Peptic ulcer, Testicular neoplasm, Hypercalciuria, Renal hamartoma, Nephrolithia...	ORPHA:99880
Deeah Syndrome	Narrow palate, Retrognathia, Decreased response to growth hormone stimulation test, Hepatomegaly,...	OMIM:619004
Cntnap2-Related Developmental And Epileptic Encephalopathy	Periventricular leukomalacia, Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Hemiatrophy, Hydronephrosis, Malar flattening, Concave nasal ridge	OMIM:302960
Noonan Syndrome 1	High, narrow palate, Hypospadias, Dental malocclusion, Ventricular septal defect, High palate, Hy...	OMIM:163950
Joubert Syndrome 2	Nephronophthisis, Hypoplastic male external genitalia, High palate, Renal cyst, Renal insufficien...	OMIM:608091
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Aplasia of the vagina, Aplasia of the uterus, Short ribs, Missing ribs, Anal atresia, Hydronephro...	OMIM:271520
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in adolescence, Death in infancy, Respiratory insufficiency due ...	OMIM:615512
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Renal cyst, Ovarian cyst, Adenomatous colonic polyposis, Uterine leiomyom...	OMIM:617100
Opsismodysplasia	Short nose, Rhizomelia, Renal phosphate wasting, Anteverted nares, Short metacarpal, Short palm, ...	OMIM:258480
Nicolaides-Baraitser Syndrome	Short nose, High, narrow palate, Thick lower lip vermilion, Widely spaced teeth, Short metatarsal...	OMIM:601358
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Tessier cleft, Pectoral muscle hypoplasia/aplasia, Hypoplasia of the frontal bone, Hypoplasia of ...	ORPHA:306542
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Short nose, High palate, Micrognathia, Broad nasal tip, Prominent nasal bridge, Smooth philtrum, ...	OMIM:300749
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	External genital hypoplasia, Absent nares, Single naris, Hypoplasia of penis, Tooth malposition, ...	ORPHA:2250
Chromosome 3Q29 Duplication Syndrome	Short nose, Bulbous nose, Wide nasal bridge	OMIM:611936
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Neoplasm of the stomach, Neoplasm of the rectum, Neoplasm of the small intes...	ORPHA:44890
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Gm2 Gangliosidosis, Ab Variant	Inappropriate behavior, Abnormal fear-induced behavior	ORPHA:309246
Parathyroid Carcinoma	Mandibular pain, Parathyroid carcinoma, Peptic ulcer, Testicular neoplasm, Hypercalciuria, Renal ...	ORPHA:143
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Anteverted nares, Smooth philtrum, Long philtrum, Intraventricular hemorrhage, Wide n...	OMIM:616430
Schneckenbecken Dysplasia	Short nose, Short ribs, Cleft palate, Limb undergrowth, Malar flattening, Hypoplastic scapulae	OMIM:269250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Transposition of the great arteries, Calf muscle hypertrophy, Pulmonic stenos...	OMIM:253800
Neu-Laxova Syndrome	Abnormal cortical gyration, Cerebral calcification, Polymicrogyria, Spina bifida, Microcephaly, A...	ORPHA:2671
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory failure, Neonatal death	OMIM:616482
Sarcoidosis, Susceptibility To, 1	Anorexia, Abnormal pulmonary interstitial morphology, Emphysema, Pleural effusion, Elevated bronc...	OMIM:181000
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Dysphagia	OMIM:617301
Pontocerebellar Hypoplasia, Type 2E	Short nose, Micrognathia, Flexion contracture, Wide nose	OMIM:615851
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hydronephrosis, Hepatosplenomegaly, Esophagitis, Duplicated collecting system	ORPHA:541423
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory insufficiency, Respiratory failure	OMIM:613845
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short nose, Cleft soft palate, Hypoplasia of the ovary, Intestinal malrotation, Renal hypoplasia,...	OMIM:619321
Hemorrhagic Fever-Renal Syndrome	Pulmonary edema, Agitation, Pleural effusion, Pneumonia, Respiratory failure	ORPHA:340
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, Prominent nasal tip, Smooth philtrum, Atrial septal defect, Progressive flexion contr...	ORPHA:522077
Muscular Dystrophy, Duchenne Type	Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:310200
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1	Atrial septal defect	OMIM:619115
Wolf-Hirschhorn Syndrome	Aplasia of the uterus, Malrotation of small bowel, Craniofacial asymmetry, Hypospadias, Short phi...	OMIM:194190
Aicardi Syndrome	Lipoma, Carcinoma, Metastatic angiosarcoma, Teratoma, Hemangioma, Recurrent pneumonia, Hepatoblas...	OMIM:304050
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Stuve-Wiedemann Syndrome 1	Thin vermilion border, Contracture of the proximal interphalangeal joint of the 5th finger, Short...	OMIM:601559
Turnpenny-Fry Syndrome	Hypoplasia of the primary teeth, Dental crowding, Microdontia, Mitral valve prolapse, Abnormality...	OMIM:618371
Witteveen-Kolk Syndrome	Congenital diaphragmatic hernia, Long philtrum, Male urethral meatus stenosis, Decreased response...	OMIM:613406
Wiedemann-Steiner Syndrome	Short nose, Decreased response to growth hormone stimulation test, Rhizomelia, Dilatation of rena...	ORPHA:319182
Congenital Bile Acid Synthesis Defect Type 2	Steatorrhea, Hepatomegaly, Renal cyst, Dark urine, Fat malabsorption	ORPHA:79303
Lujo Hemorrhagic Fever	Atelectasis, Dysphagia	ORPHA:319213
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Calcinosis, Narrow mouth, Abnormality of the dentition, Aplasia/Hypoplasia of the cla...	ORPHA:90154
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory failure, Respiratory insufficiency due to muscle weakness, Death in childhood	OMIM:220110
Bardet-Biedl Syndrome 20	Bilateral cryptorchidism, Proteinuria, Atrial septal defect, Male hypogonadism, Micropenis	OMIM:619471
Bladder Exstrophy	Epispadias, Abnormal clitoris morphology, Hypoplasia of penis, Recurrent urinary tract infections...	ORPHA:93930
Cutis Marmorata Telangiectatica Congenita	Orofacial cleft, Arteriovenous malformation, Short lower limbs, Micrognathia, Displacement of the...	ORPHA:1556
Schwartz-Jampel Syndrome	Flexion contracture of toe, Everted lower lip vermilion, Wrist flexion contracture, Testicular to...	ORPHA:800
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Duplicated collecting system, Ventricular septal defect, High palate, Hypertrophic cardiomyopathy...	OMIM:607721
Oculocerebrorenal Syndrome Of Lowe	Cheilitis, Dental crowding, Everted lower lip vermilion, Tooth agenesis, Nephrocalcinosis, Multip...	ORPHA:534
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short nose, Carpal bone hypoplasia, Short metacarpal, Short fourth metatarsal, Malar flattening, ...	OMIM:616723
Achondrogenesis, Type Ia	Hypoplasia of the radius, Hypoplastic sacrum, Short nose, Severe limb shortening, Short clavicles...	OMIM:200600
Peroxisome Biogenesis Disorder 13A (Zellweger)	Polymicrogyria, Neonatal death, Gray matter heterotopia	OMIM:614887
Molybdenum Cofactor Deficiency, Complementation Group B	Short nose, Xanthinuria, Increased urinary taurine, Decreased urinary urate, Increased urinary hy...	OMIM:252160
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Retrognathia, Abnormal aortic arch morphology, Short ribs, Long philtrum, External genital hypopl...	ORPHA:96334
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Costello Syndrome	Rhabdomyosarcoma, Lymphangiectasis, Thick lower lip vermilion, Anteverted nares, High palate, Hyp...	OMIM:218040
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Granulomatous Disease, Chronic, X-Linked	Pleural effusion, Recurrent pneumonia, Atelectasis	OMIM:306400
Loeys-Dietz Syndrome 1	Retrognathia, Pulmonary artery aneurysm, Arterial tortuosity, Descending thoracic aorta aneurysm,...	OMIM:609192
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Squamous cell carcinoma, Carcinoma, Oropharyngeal squamous cell carcinoma...	OMIM:305000
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Hypomimic face, Short nose, High palate, Micrognathia, Tented upper lip vermilion, Smooth philtru...	OMIM:617527
Pearson Syndrome	Decreased response to growth hormone stimulation test, Steatorrhea, Hypoparathyroidism, Hepatomeg...	ORPHA:699
Holoprosencephaly 1	Tessier cleft, Proboscis, Median cleft palate, Aplasia of the nose, Micropenis, Median cleft uppe...	OMIM:236100
Joubert Syndrome With Hepatic Defect	Orofacial cleft, Hepatomegaly, Multicystic kidney dysplasia, Renal insufficiency, Anteverted nare...	ORPHA:1454
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Downturned corners of mouth, Thick vermilion border, Short nose	ORPHA:1185
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Everted upper lip vermilion, Conical tooth, Underdeveloped nasal alae, Hypoplastic ni...	OMIM:305100
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory insufficiency, Respiratory failure	OMIM:609015
Menke-Hennekam Syndrome 1	Short nose, Everted upper lip vermilion, Short philtrum, Narrow nasal bridge, Anteverted nares, U...	OMIM:618332
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Short nose, Micrognathia	ORPHA:1129
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Bifid scrotum, Broad philtrum, Bicuspid aortic valve, Hypospadias, Short uvula, Short philtrum, A...	OMIM:619475
Listeriosis	Pneumonia, Respiratory failure, Miscarriage	ORPHA:533
Plaa-Associated Neurodevelopmental Disorder	Short nose, Limb hypertonia, High palate, Micrognathia, Tented upper lip vermilion, Smooth philtr...	ORPHA:521426
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatomegaly, High palate, Splenomegaly, Microretrognathia, Weakness of facial musculature, Ventr...	OMIM:619418
Lymphatic Malformation 6	Intestinal lymphangiectasia, Micrognathia, Splenomegaly, Atrial septal defect, Varicose veins, Hy...	OMIM:616843
Monosomy 22Q13.3	Dental crowding, Vesicoureteral reflux, Hydronephrosis, Recurrent pyelonephritis, Malar flattenin...	ORPHA:48652
Intellectual Developmental Disorder, Autosomal Dominant 42	Short philtrum, Limb hypertonia, Neurogenic bladder, High palate, Ureteropelvic junction obstruct...	OMIM:616973
Bosma Arhinia Microphthalmia Syndrome	Hypospadias, High palate, Anosmia, Choanal atresia, Cleft lip, Paranasal sinus hypoplasia, Hypopl...	OMIM:603457
Acromelic Frontonasal Dysostosis	Hypoplasia of the corpus callosum, Encephalocele, Cavum septum pellucidum, Calcification of falx ...	OMIM:603671
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618733
Joubert Syndrome 1	Anteverted nares, Renal cyst, Protruding tongue, Triangular-shaped open mouth, Macroglossia, Neph...	OMIM:213300
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory failure	ORPHA:2707
Tetraamelia Syndrome 1	Congenital diaphragmatic hernia, Single naris, Hypoplasia of the fallopian tube, Anal atresia, Ch...	OMIM:273395
Visceral Myopathy 1	Thinning of outer muscular layer of small bowel, Aganglionic megacolon, Intestinal pseudo-obstruc...	OMIM:155310
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Respiratory arrest, Neonatal death, Dysphagia, Respiratory failure	OMIM:617248
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Cerebral atrophy, Gray matter heterotopia, Hypoplasia of the corpus callosum	OMIM:618797
Loeys-Dietz Syndrome 4	Pneumothorax, Emphysema	OMIM:614816
Constricting Bands, Congenital	Tessier cleft, Ectopia cordis, Cleft upper lip, Cleft palate, Bladder exstrophy	OMIM:217100
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Neuroendocrine neoplasm, Small cell lung carcinoma, Pancreatic endocrine...	ORPHA:99889
Opsismodysplasia	Short nose, Hepatomegaly, Hypoplastic vertebral bodies, Splenomegaly, Depressed nasal bridge	ORPHA:2746
Coffin-Lowry Syndrome	Death in early adulthood, Microcephaly, Cerebral cortical atrophy, Abnormality of neuronal migrat...	ORPHA:192
Knobloch Syndrome 1	Duplicated collecting system, Pyloric stenosis, Renal duplication, Hydronephrosis, Bifid ureter, ...	OMIM:267750
Ebstein Anomaly	Atrial septal defect, Ebstein anomaly of the tricuspid valve	OMIM:224700
Van Maldergem Syndrome 1	Hypoplasia of the corpus callosum, Gray matter heterotopia, Simplified gyral pattern, Pachygyria,...	OMIM:601390
Cerebrofaciothoracic Dysplasia	Short nose, Wide nose, Cleft upper lip, Cleft palate, Wide mouth, Broad philtrum	ORPHA:1394
Leigh Syndrome	3-Methylglutaconic aciduria, Methylmalonic aciduria, Multiple joint contractures, Generalized ami...	ORPHA:506
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Atrial septal defect, Macroglossia	ORPHA:93947
Trichothiodystrophy 1, Photosensitive	Retrognathia, Intestinal obstruction, Short nose, Triangular mouth, Flexion contracture, Hypogona...	OMIM:601675
Neurodegeneration With Brain Iron Accumulation 2A	Short nose, Micrognathia	OMIM:256600
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Hypoplasia of the ulna, Fibular hypoplasia, Short ribs, Pancreatic cysts, Renal cyst, Bile duct p...	OMIM:208500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Long philtrum, 11 pairs of ribs, Long upper lip, High palate, Short metacarpal, Micrognathia, Cle...	OMIM:271640
Lmna-Related Cardiocutaneous Progeria Syndrome	Abnormality of the pulmonary artery, Emphysema	ORPHA:363618
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Combined Oxidative Phosphorylation Deficiency 3	Respiratory insufficiency, Respiratory failure, Death in childhood, Death in infancy	OMIM:610505
Neonatal Marfan Syndrome	Neonatal respiratory distress, Emphysema	ORPHA:284979
Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome	Respiratory failure	ORPHA:3240
Infantile Krabbe Disease	Respiratory failure	ORPHA:206436
Coffin-Lowry Syndrome	Narrow palate, Short nose, Rectal prolapse, Thick lower lip vermilion, Widely spaced teeth, Wide ...	OMIM:303600
Isolated Exencephaly	Holoprosencephaly, Agenesis of corpus callosum	ORPHA:563612
Craniotubular Dysplasia, Ikegawa Type	Thick lower lip vermilion, Anteverted nares, Short palm, Thick upper lip vermilion, Long philtrum...	OMIM:619727
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia, Pulmonary artery atresia	OMIM:620371
Trichothiodystrophy	Gonadal dysgenesis, Retrognathia, High, narrow palate, Multiple joint contractures, Cardiomyopath...	ORPHA:33364
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Turner Syndrome Due To Structural X Chromosome Anomalies	Retrognathia, Renal hypoplasia/aplasia, Ectopic kidney, Arterial dissection, Bicuspid aortic valv...	ORPHA:99413
Mosaic Monosomy X	Retrognathia, Renal hypoplasia/aplasia, Ectopic kidney, Arterial dissection, Bicuspid aortic valv...	ORPHA:99228
Monosomy X	Retrognathia, Renal hypoplasia/aplasia, Ectopic kidney, Arterial dissection, Bicuspid aortic valv...	ORPHA:99226
Turner Syndrome	Retrognathia, Renal hypoplasia/aplasia, Ectopic kidney, Arterial dissection, Bicuspid aortic valv...	ORPHA:881
Craniofacial-Deafness-Hand Syndrome	Short nose, Hypoplasia of the maxilla, Malar flattening, Narrow naris, Depressed nasal bridge	OMIM:122880
Sponastrime Dysplasia	Short dental root, Microdontia, Aplasia of the nasal bone, Mesomelia, Rhizomelia, Hypospadias, An...	ORPHA:93357
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Small hand	OMIM:618618
6Q Terminal Deletion Syndrome	Hypoplasia of the corpus callosum, Polymicrogyria, Gray matter heterotopia, Abnormality of neuron...	ORPHA:75857
Combined Oxidative Phosphorylation Deficiency 37	Respiratory insufficiency, Respiratory failure	OMIM:618329
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Ventricular septal defect, High palate, Flexion contracture, Open mouth	OMIM:614653
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Short nose, Rhizomelia, Anteverted nares, Mandibular prognathia, Short dental root, Abnormality o...	OMIM:271510
Frontofacionasal Dysplasia	Orofacial cleft, Midline defect of the nose, Short nose, Hypoplasia of the frontal bone, Cleft up...	OMIM:229400
Distal Renal Tubular Acidosis	Low-molecular-weight proteinuria, Hypocitraturia, Decreased glomerular filtration rate, Renal pot...	ORPHA:18
Osteopetrosis, Autosomal Recessive 5	Stillbirth, Respiratory failure	OMIM:259720
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Wide nose, Wide nasal bridge	ORPHA:2557
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hydronephrosis, Duplicated collecting system	OMIM:617093
Lenz-Majewski Hyperostotic Dwarfism	Dysplastic corpus callosum, Spina bifida occulta, Microcephaly, Cerebral cortical atrophy, Agenes...	OMIM:151050
Cadds	Short nose, Micrognathia	ORPHA:369942
Lymphatic Malformation 7	Pericardial effusion, Atrial septal defect, Varicose veins	OMIM:617300
Jaberi-Elahi Syndrome	Short nose, Depressed nasal bridge, Triangular mouth	OMIM:617988
Mody	Abnormality of the kidney, Pancreatic hypoplasia, Renal cyst, Glycosuria, Nephropathy	ORPHA:552
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Ventricular septal defect, Small hand	OMIM:614947
Yunis-Varon Syndrome	Absent sternal ossification, Broad alveolar ridges, Cardiomyopathy, Hypoplastic facial bones, Abs...	OMIM:216340
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Squamous cell carcinoma	OMIM:618373
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Hypoplasia of the ulna, Long philtrum, Widely spaced teeth, Rhizomelia, Delayed eruption of teeth...	OMIM:143095
Branchiooculofacial Syndrome	Hypospadias, Short nasal septum, Elbow flexion contracture, Facial palsy, Abnormality of the dent...	OMIM:113620
Aspartylglucosaminuria	Short nose, Hepatomegaly, Mandibular prognathia, Gingival overgrowth, Abnormality of the dentitio...	ORPHA:93
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short distal phalanx of finger, Short nose, Epistaxis, Cerebral hemorrhage	OMIM:277450
Spondyloocular Syndrome	Duodenal ulcer, Abnormality of the dentition, Dysplastic aortic valve, Unilateral cryptorchidism,...	OMIM:605822
Opitz-Kaveggia Syndrome	Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter heterotopia	OMIM:305450
Ehlers-Danlos Syndrome, Vascular Type	Pneumothorax, Emphysema, Pulmonary bulla, Repeated pneumothoraces, Spontaneous pneumothorax, Recu...	OMIM:130050
Galloway-Mowat Syndrome 1	Secondary microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Abnorm...	OMIM:251300
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short finger, Short nose, Short ribs, High palate, Short metacarpal, Elbow flexion contracture, M...	OMIM:271665
Osteogenesis Imperfecta, Type Vii	Rhizomelia, Hypoplastic pulmonary veins, Micromelia, Hydronephrosis, Dentinogenesis imperfecta, L...	OMIM:610682
Zygomycosis	Acute infectious pneumonia, Pleural effusion, Atelectasis, Pneumothorax	ORPHA:73263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Dend Syndrome	Long philtrum, Short nose, Downturned corners of mouth, Anteverted nares	ORPHA:79134
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypocalciuria, Parathormone-independent increased renal tubular calcium reabsorptio...	OMIM:600740
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory insufficiency, Respiratory failure, Death in infancy	OMIM:252010
Combined Immunodeficiency-Enteropathy Spectrum	Rectal abscess, Ventricular septal defect, Hypoplasia of the thymus, Intestinal malrotation, Jeju...	ORPHA:436252
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Hypospadias, Unilateral renal agenesis, Renal agenesis, Cleft palate, Choa...	OMIM:308205
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Death in childhood, Emphysema, Neonatal death, Pulmonary artery dilata...	OMIM:614437
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Meier-Gorlin Syndrome 1	Emphysema, Death in infancy	OMIM:224690
Lethal Acantholytic Erosive Disorder	Respiratory failure	ORPHA:158687
Van Maldergem Syndrome 2	Subcortical band heterotopia, Periventricular nodular heterotopia, Gray matter heterotopia, Hypop...	OMIM:615546
Eisenmenger Syndrome	Atrioventricular canal defect, Hepatomegaly, Bacterial endocarditis, Stroke, Aortopulmonary windo...	ORPHA:97214
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Immunodeficiency 87 And Autoimmunity	Atrial septal defect, Atrioventricular canal defect, Hepatomegaly, Necrotizing enterocolitis, Cle...	OMIM:619573
Relapsing Polychondritis	Atelectasis	ORPHA:728
Periventricular Nodular Heterotopia 9	Hypoplasia of the corpus callosum, Polymicrogyria, Gray matter heterotopia, Microcephaly, Periven...	OMIM:618918
Pituitary Adenoma 4, Acth-Secreting	Emotional lability, Abnormal fear-induced behavior	OMIM:219090
Proteus Syndrome	Enlarged kidney, Ovarian neoplasm, Arteriovenous malformation, Venous malformation, Long penis, T...	ORPHA:744
Spondylometaphyseal Dysplasia, Sedaghatian Type	Myocarditis, Short finger, Rhizomelia, 11 pairs of ribs, Short ribs, Short metacarpal, Short toe,...	OMIM:250220
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pheochromocytoma, Renal cell carcinoma, Papillary cystadenoma of the ep...	OMIM:193300
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Obsessive-compulsive trait, Oral-pharyngeal d...	ORPHA:273
Pmm2-Cdg	Retrognathia, Pericarditis, Wide mouth, Multiple renal cysts, Long philtrum, Anteverted nares, In...	ORPHA:79318
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2754
1P21.3 Microdeletion Syndrome	Short nose, Micrognathia, Wide mouth, Broad nasal tip	ORPHA:293948
Sarcoidosis	Pneumothorax, Emphysema, Chylothorax, Abnormal nasal mucosa morphology, Pleural effusion, Abnorma...	ORPHA:797
Autosomal Dominant Cutis Laxa	Bronchiectasis, Peripheral pulmonary artery stenosis, Emphysema, Bronchiolitis	ORPHA:90348
Abetalipoproteinemia	Respiratory failure	ORPHA:14
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anteverted nares, Thick vermilion border, Long philtrum, Atrial septal defect, Wide na...	ORPHA:2526
Immunodeficiency 96	Multicystic kidney dysplasia	OMIM:619774
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Gray matter heterotopia	OMIM:620475
Acromesomelic Dysplasia 1	Hypoplasia of the radius, Short nose, Short metatarsal, Short metacarpal, Short toe, Acromesomelia	OMIM:602875
Marfan Syndrome	Attention deficit hyperactivity disorder, Pulmonary artery dilatation, Emphysema, Spontaneous pne...	ORPHA:558
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Marfan Syndrome	Pneumothorax, Pulmonary artery dilatation, Emphysema	OMIM:154700
Bilateral Perisylvian Polymicrogyria	Microcephaly, Abnormality of neuronal migration, Perisylvian predominant thick cortex pachygyria,...	ORPHA:98889
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Ear-Patella-Short Stature Syndrome	Respiratory failure	ORPHA:2554
Lipodystrophy, Familial Partial, Type 7	Polyuria, Short nose, Narrow nasal ridge, Narrow mouth, Pulmonary arteriovenous malformation, Low...	OMIM:606721
Microphthalmia With Linear Skin Defects Syndrome	Respiratory failure	ORPHA:2556
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Pituitary Stalk Interruption Syndrome	Cryptorchidism, Ectopic posterior pituitary, Hypoplasia of penis	ORPHA:95496
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Anterior pituitary hypoplasia, Anterior pituitary agenesis, Ectopic posterior pituitary	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

MicroCT E18.5

X-ray

Human diseases caused by Robo1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data