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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
abnormal behavior	Robo1^em1(IMPC)Mbp	HET	Early adult	9.18×10^-07
preweaning lethality, complete penetrance	Robo1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased anxiety-related response	Robo1^em1(IMPC)Mbp	HET	Early adult	2.40×10^-05
no spontaneous movement	Robo1^em1(IMPC)Mbp	HOM	E18.5	0.00
decreased thigmotaxis	Robo1^em1(IMPC)Mbp	HET	Early adult	5.53×10^-08
no spontaneous movement	Robo1^em1(IMPC)Mbp	HET	E18.5	0.00
preweaning lethality, incomplete penetrance	Robo1^em1(IMPC)Mbp	HOM	Early adult	0.00
decreased locomotor activity	Robo1^em1(IMPC)Mbp	HET	Early adult	6.01×10^-06

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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 Lateral Orientation

40 Images

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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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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	Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Short 1st meta...	OMIM:620305
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Hypoplasia of penis, Cryptorchidism	ORPHA:95496
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Anterior pituitary hypoplasia	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	Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma	OMIM:211980
Tumor Predisposition Syndrome 1	Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena...	OMIM:614327
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Small Cell Cancer Of The Lung	Neoplasm of the lung	OMIM:182280
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Genitopalatocardiac Syndrome	Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Renal cyst, Transpos...	OMIM:231060
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Chudley-Mccullough Syndrome	Polymicrogyria, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Hydrocephalus, Gra...	OMIM:604213
Cardiac Septal Defects With Coarctation Of The Aorta	Perimembranous ventricular septal defect, Secundum atrial septal defect	OMIM:212090
Myofibromatosis, Infantile, 1	Myofibromatosis, Fibroma	OMIM:228550
Sub-Cortical Nodular Heterotopia	Abnormal cerebral cortex morphology, Polymicrogyria, Abnormal basal ganglia morphology, Hypoplasi...	ORPHA:101029
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Agyria, Hypoplasia of the corpus callosum, Microcephaly, Pachygyria, Cortical dysplasia, Thin cor...	OMIM:615411
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Lissencephaly, X-Linked, 1	Death in infancy, Agenesis of corpus callosum, Pachygyria, Agyria, Gray matter heterotopia, Lisse...	OMIM:300067
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma	OMIM:609265
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Carious teeth, Velopharyngeal insufficiency, Thick upper lip vermilion, Atrial septal defect, Abn...	ORPHA:363444
Birk-Aharoni Syndrome	Long nasal bridge, Muscular ventricular septal defect, Micrognathia, Cryptorchidism, Micropenis, ...	OMIM:620071
Prune Belly Syndrome	Multicystic kidney dysplasia, Abnormality of the ureter, Cryptorchidism, Ventricular septal defec...	ORPHA:2970
46,Xx Sex Reversal 5	Hypoplastic left heart, Secundum atrial septal defect, Ventricular septal defect, Ambiguous genit...	OMIM:618901
Schizencephaly	Cerebral cortical atrophy, Schizencephaly, Agenesis of corpus callosum	OMIM:269160
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:253300
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Recombinant Chromosome 8 Syndrome	Depressed nasal bridge, Abnormality of the dentition, Joint contracture of the hand, Downturned c...	OMIM:179613
Craniofacial Conodysplasia	Hydrocephalus, Spinal cord compression	ORPHA:85168
Lissencephaly 3	Polymicrogyria, Periventricular laminar heterotopia, Hypoplasia of the corpus callosum, Agenesis ...	OMIM:611603
Mitochondrial Complex I Deficiency, Nuclear Type 39	Hypertrophic cardiomyopathy, Cryptorchidism, Cardiomegaly, Perimembranous ventricular septal defe...	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, Agenesis of corpus callosum, Microcephaly, Cortical dysplasia,...	OMIM:614039
Prune Belly Syndrome With Pulmonic Stenosis, Impaired Intellectual Development, And Deafness	Hydronephrosis, Hydroureter, Pulmonic stenosis	OMIM:264140
Atrioventricular Septal Defect 5	Hypoplastic left heart, Atrioventricular canal defect, Muscular ventricular septal defect	OMIM:614474
8P23.1 Duplication Syndrome	Long philtrum, Tetralogy of Fallot, Ventricular septal defect, Hydronephrosis, Thick vermilion bo...	ORPHA:251076
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Cardiomyopathy, Stroke, Left atrial enlargement, Left ventricu...	OMIM:611556
Emphysema, Hereditary Pulmonary	Emphysema, Chronic bronchitis	OMIM:130700
Microlissencephaly	Lissencephaly, Cerebral cortical atrophy, Subcortical heterotopia, Polymicrogyria, Periventricula...	ORPHA:1083
Congenital Heart Defects, Multiple Types, 6	Total anomalous pulmonary venous return, Secundum atrial septal defect, Tetralogy of Fallot, Righ...	OMIM:613854
Ritscher-Schinzel Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Depressed nasal bridge, Tetralogy of Fallot, Decre...	OMIM:220210
Fallot Complex With Severe Mental And Growth Retardation	Tetralogy of Fallot, Double outlet right ventricle, Pulmonic stenosis, Ventricular septal defect	OMIM:601127
Pierre Robin Syndrome	Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Ventricular Septal Defect 1	Tetralogy of Fallot, Atrioventricular canal defect, Ventricular septal defect, Atrial septal defe...	OMIM:614429
14Q24.1Q24.3 Microdeletion Syndrome	Wide nasal bridge, Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation,...	ORPHA:401935
Meckel Syndrome, Type 8	Depressed nasal ridge, Cleft upper lip, Hyperechogenic kidneys, Ambiguous genitalia, Cleft palate...	OMIM:613885
Microcephaly-Capillary Malformation Syndrome	Short distal phalanx of finger, Hypoplasia of the maxilla, Vesicoureteral reflux, Patent foramen ...	OMIM:614261
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Hypoplasia of the maxilla, Hydroureter, Dental crowding, Micrognathia, Delayed...	OMIM:616367
Lissencephaly 1	Secondary microcephaly, Abnormal cerebral white matter morphology, Pachygyria, Agyria, Gray matte...	OMIM:607432
Nephronophthisis 16	Aortic valve stenosis, Nephronophthisis, Hypertrophic cardiomyopathy, Stage 5 chronic kidney dise...	OMIM:615382
Trisomy 17P	Aortic valve stenosis, Micrognathia, Narrow mouth, High palate, Polycystic kidney dysplasia, Pate...	ORPHA:261290
Immunodeficiency 95	Recurrent respiratory infections, Recurrent viral upper respiratory tract infections, Respiratory...	OMIM:619773
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Secundum atrial septal defect, Tetralogy of Fallot, Ventricular septal defect, Left ventricular h...	OMIM:108900
Intellectual Developmental Disorder, Autosomal Recessive 72	Wide nasal base, Broad nasal tip, Secundum atrial septal defect, Long philtrum, Prominent nose, W...	OMIM:618665
Codas Syndrome	Depressed nasal bridge, Hydroureter, Delayed eruption of teeth, Abnormal dental enamel morphology...	ORPHA:1458
Cardiomyopathy, Dilated, 1R	Restrictive cardiomyopathy, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular n...	OMIM:613424
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Atelectasis	OMIM:615294
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hydroureter, Duodenal stenosis, Camptodactyly of finger, Micrognathia, Abnormality of the upper u...	ORPHA:2547
Diamond-Blackfan Anemia 7	Choanal atresia, Small hypothenar eminence, Secundum atrial septal defect, Short thumb, Tetralogy...	OMIM:612562
Cardiomyopathy, Dilated, 2H	Muscular ventricular septal defect, Secundum atrial septal defect	OMIM:620203
Cardiomyopathy, Familial Restrictive, 1	Left atrial enlargement, Left ventricular hypertrophy, Restrictive cardiomyopathy	OMIM:115210
Intellectual Developmental Disorder, Autosomal Recessive 65	Secundum atrial septal defect, Supernumerary nipple, Bulbous nose, Prominent nasal bridge, Crypto...	OMIM:618109
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Tooth agenesis, Tetralogy of Fallot, Micrognathia, Vesicoureteral reflux, Abnormal aortic morphol...	ORPHA:1166
14Q11.2 Microdeletion Syndrome	Depressed nasal bridge, Long philtrum, Micrognathia, Narrow mouth, Exaggerated cupid's bow, Ventr...	ORPHA:261120
Pulmonary Atresia With Ventricular Septal Defect	Ventricular septal defect	OMIM:178370
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3	Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ...	OMIM:618845
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Unilateral renal agenesis, Depressed nasal bridge, Secundum atrial septal defect, Dilation of Vir...	OMIM:619951
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Short 5th finger, Secundum atrial septal defect, Cleft upper lip, Tented upper lip vermilion, Ven...	OMIM:600987
Cortical Dysplasia, Complex, With Other Brain Malformations 7	Polymicrogyria, Hypoplasia of the corpus callosum, Unilateral polymicrogyria, Agenesis of corpus ...	OMIM:610031
Congenital Pulmonary Airway Malformation	Abnormal pleura morphology, Respiratory insufficiency	ORPHA:2444
Agnathia-Otocephaly Complex	Microglossia, Secundum atrial septal defect, Aglossia, Micrognathia, Situs inversus totalis, Narr...	OMIM:202650
Fetal Trimethadione Syndrome	Depressed nasal bridge, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Ambiguous g...	ORPHA:1913
Sonoda Syndrome	Depressed nasal bridge, Narrow mouth, Ventricular septal defect	OMIM:270460
Trisomy 1Q	Small scrotum, Multicystic kidney dysplasia, Depressed nasal bridge, Microretrognathia, Camptodac...	ORPHA:261344
Aica-Ribosiduria Due To Atic Deficiency	Clitoral hypertrophy, Secundum atrial septal defect, Anteverted nares, Prominent nasal bridge, Th...	OMIM:608688
Bardet-Biedl Syndrome 19	Hypoplastic left heart, Renal hypoplasia, Hypogonadism, External genital hypoplasia, Partial atri...	OMIM:615996
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Nephronophthisis 14	Polycystic kidney dysplasia, Nephronophthisis, Situs inversus totalis	OMIM:614844
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Congenital Heart Defects, Multiple Types, 5	Aortic valve stenosis, Dilated cardiomyopathy, Tetralogy of Fallot, Ventricular septal defect, Bi...	OMIM:617912
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia, Hypoplasia of the corpus callos...	OMIM:608097
Congenital Absence Of Upper Arm And Forearm With Hand Present	Renal agenesis, Abnormal heart morphology, Upper limb phocomelia, Abnormal cardiac septum morphol...	ORPHA:294975
Chromosome 9P Deletion Syndrome	Micrognathia, Narrow mouth, Ventricular septal defect, Atrial septal defect, High palate, Hypospa...	OMIM:158170
Diabetic Embryopathy	Abnormal morphology of female internal genitalia, Tetralogy of Fallot, Micrognathia, Abnormal aor...	ORPHA:1926
Primary Pulmonary Hypoplasia	Abnormal pulmonary artery morphology, Secundum atrial septal defect, Ureteral stenosis, Abnormal ...	ORPHA:2257
Larynx Atresia	Recurrent respiratory infections, Respiratory insufficiency	ORPHA:1202
Noonan Syndrome 9	Hydroureter, Cryptorchidism, Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis	OMIM:616559
Band Heterotopia	Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Hydrocephalus, Gray ma...	OMIM:600348
Cayler Cardiofacial Syndrome	Tetralogy of Fallot, Patent ductus arteriosus, Ventricular septal defect	OMIM:125520
Congenitally Uncorrected Transposition Of The Great Arteries	Interrupted aortic arch, Abnormal aortic arch morphology, Abnormal coronary artery morphology, Bi...	ORPHA:860
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Dental crowding, Short toe, Long philtrum, Short 5th metacarpal, Anteverted nares, Anterior open-...	OMIM:617877
Renal Caliceal Diverticuli-Deafness Syndrome	Abnormality of the urinary system, Hydroureter, Hydronephrosis, Abnormality of the upper urinary ...	ORPHA:2838
Paternal Uniparental Disomy Of Chromosome 5	Rhizomelic arm shortening, Short lower limbs, Secundum atrial septal defect, Renal duplication	ORPHA:96190
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Polymicrogyria, Primary microcephaly, Agenesis of corpus callosum	ORPHA:171703
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Megabladder, Congenital	Hyperechogenic kidneys, Left ventricular noncompaction cardiomyopathy, Stage 5 chronic kidney dis...	OMIM:618719
Indomethacin Embryofetopathy	Nephropathy, Multicystic kidney dysplasia, Cardiomyopathy, Renal insufficiency, Ventricular septa...	ORPHA:1909
Fetal Minoxidil Syndrome	Depressed nasal bridge, Micrognathia, Cryptorchidism, Ventricular septal defect	ORPHA:1918
Carpenter Syndrome 1	Joint contracture of the hand, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial se...	OMIM:201000
22Q11.2 Duplication Syndrome	Hypoplastic left heart, Interrupted aortic arch, Depressed nasal ridge, Tetralogy of Fallot, Micr...	ORPHA:1727
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties	Wide nasal bridge, Urinary incontinence, Carious teeth, Downturned corners of mouth, Multiple mus...	OMIM:620070
Ring Chromosome 8 Syndrome	Abnormality of the ureter, Anteverted nares, Abnormal palate morphology, Hydronephrosis, Short nose	ORPHA:1450
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Wide nasal bridge, Broad nasal tip, Retrognathia, Intestinal malrotation...	OMIM:615524
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Bifid nasal tip, Renal hypoplasia, Broad nasal tip, Secundum atrial septal defect, Retrognathia, ...	OMIM:619758
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal corpus callosum morphology, Abnormality of neuronal migration, Microcephaly, Hydrocephal...	OMIM:618709
Sandestig-Stefanova Syndrome	Wide nasal bridge, Retrognathia, Muscular ventricular septal defect, Perimembranous ventricular s...	OMIM:618804
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Vesicoureteral reflux, Nephrolithi...	ORPHA:617
Nemaline Myopathy 9	Nemaline bodies, Micrognathia, Ventricular septal defect, High palate, Arthrogryposis multiplex c...	OMIM:615731
Distal Triplication 15Q	Dilatation of the renal pelvis, Retrognathia, Abnormal heart morphology, Horseshoe kidney, Microg...	ORPHA:314588
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Small hand, Micrognathia, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atria...	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	Abnormal corpus callosum morphology, Lateral ventricle dilatation, Dysgenesis of the basal gangli...	ORPHA:300573
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild malformation of corti...	ORPHA:500166
Stankiewicz-Isidor Syndrome	Absent thumb, Short thumb, Retrognathia, Prominent nose, Micrognathia, Cryptorchidism, Truncus ar...	OMIM:617516
Lissencephaly 4	Agenesis of corpus callosum, Colpocephaly, Primary microcephaly, Lissencephaly, Simplified gyral ...	OMIM:614019
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Increased variability in muscle fiber diameter, Generalized amyotrophy, Microretrognathia, Secund...	OMIM:616866
Gillessen-Kaesbach-Nishimura Syndrome	Retrognathia, Underdeveloped nasal alae, Abnormal heart morphology, Micrognathia, Congenital diap...	OMIM:263210
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias, Patent ductus arter...	OMIM:618316
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Depressed nasal bridge, Nephrocalcinosis, Restrictive cardiomyopathy, Hydroureter, Downturned cor...	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	Aplasia/Hypoplasia of the pyramidal tract, Abnormal cortical gyration, Polymicrogyria, Neonatal d...	OMIM:619602
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Nephropathy, Aminoaciduria, Nephrocalcinosis, Arthrogryposis multiplex congenita, Reduced renal c...	OMIM:208085
Congenital Disorder Of Glycosylation, Type Iie	Secundum atrial septal defect, Skeletal muscle atrophy, Retrognathia, Micrognathia, Narrow mouth,...	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	Wide nasal bridge, Widely spaced teeth, Prominent nose, Taurodontia, Perimembranous ventricular s...	OMIM:618205
Cardiomyopathy, Familial Hypertrophic, 25	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:607487
Thomas Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Cleft upper lip, Renal hypoplasia/aplasia, ...	ORPHA:3316
Burn-Mckeown Syndrome	Wide nasal bridge, Bilateral choanal atresia, Prominent nasal bridge, Abnormal palate morphology,...	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, Microretrognathia, Muscle fiber atrophy, Multiple joint contractures, Mitral ...	ORPHA:324604
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Squamous cell carcinoma, Verrucae	OMIM:618267
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Polymicrogyria, Colpocephaly, Agenesis of corpus callosum	ORPHA:250972
Paget Disease Of Bone 6	Left ventricular hypertrophy, Nephrocalcinosis, Coronary artery atherosclerosis	OMIM:616833
Left Ventricular Noncompaction 1	Hypoplastic left heart, Left ventricular noncompaction, Left ventricular noncompaction cardiomyop...	OMIM:604169
Phenobarbital Embryopathy	Aplasia/Hypoplasia of fingers, Mandibular prognathia, Unilateral cleft lip, Tetralogy of Fallot, ...	ORPHA:1919
Oligomeganephronia	Unilateral renal agenesis, Abnormal nephron morphology, Secundum atrial septal defect, Glomerulom...	ORPHA:2260
Cardiac Valvular Dysplasia 1	Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis...	OMIM:212093
Interstitial Pneumonitis, Desquamative, Familial	Recurrent upper respiratory tract infections, Respiratory failure, Desquamative interstitial pneu...	OMIM:263000
Pontocerebellar Hypoplasia, Type 17	Microretrognathia, Secundum atrial septal defect, Ventricular septal defect, Limb hypertonia, Pat...	OMIM:619909
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Dilated cardiomyopathy, Endocardial fibrosis, Cardiomyocyte hypertrophy, Hypertrophic cardiomyopa...	OMIM:612158
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dysphagia, Respiratory failure, Aspiration pn...	ORPHA:90117
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies	Secundum atrial septal defect, Hyperplasia of the maxilla, Prominent nose, Micrognathia, High palate	OMIM:620194
Marden-Walker Syndrome	Aplasia/Hypoplasia involving the skeletal musculature, Multicystic kidney dysplasia, Micrognathia...	ORPHA:2461
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Clitoral hypertrophy, Valvular pulmonary stenosis, Bicuspid aortic valve, Atrial septal defect, A...	OMIM:300707
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Nephropathy, Aminoaciduria, Nephrocalcinosis, Glycosuria, Renal tubular acidosis, Ventricular sep...	OMIM:613404
Long Qt Syndrome 16	Perimembranous ventricular septal defect	OMIM:618782
Cardiomyopathy, Familial Hypertrophic, 21	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Ciliary Dyskinesia, Primary, 5	Recurrent pneumonia, Neonatal respiratory distress, Nasal polyposis, Recurrent sinusitis, Chronic...	OMIM:608647
Ellis Van Creveld Syndrome	Abnormality of the ureter, Cryptorchidism, Ventricular septal defect, Renal hypoplasia/aplasia, A...	ORPHA:289
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Wide nasal bridge, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Thin upper lip vermilion, P...	ORPHA:3304
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy, Endocardial...	OMIM:601493
Monosomy 18Q	Aortic valve stenosis, Open mouth, High palate, Patent ductus arteriosus, Downturned corners of m...	ORPHA:1600
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Long penis, Long philtrum, Micrognathia, Cryptorchidism, Renal h...	ORPHA:1988
Mmep Syndrome	Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Orofacial cleft, Mandibular pr...	ORPHA:3434
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Unilateral renal agenesis, Choanal atresia, Renal agenesis, Retrognathia, Muscular ventricular se...	OMIM:619227
Cardiomyopathy, Dilated, 1Kk	Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Left ventricular hypertrophy, Dilate...	OMIM:615248
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect, Limb hypertonia	OMIM:619170
Mungan Syndrome	Barrett esophagus, Renal hypoplasia, Intestinal pseudo-obstruction, Megaduodenum, Vesicoureteral ...	OMIM:611376
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor...	OMIM:620317
Burn-Mckeown Syndrome	Unilateral renal agenesis, Renal hypoplasia, Choanal atresia, Bifid uvula, Bilateral choanal atre...	OMIM:608572
Penile Agenesis	Depressed nasal bridge, Hydroureter, Bilateral renal agenesis, Bilateral renal hypoplasia, Unilat...	ORPHA:49
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Joint contracture of the hand, Retrognathia, Cardiomyopathy, Skeletal mu...	OMIM:300280
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Congenital shortened small intestine, Dilatation of the renal pelvis, Micrognathia, Dilatation of...	OMIM:265380
Fanconi Anemia, Complementation Group O	Absent thumb, Short thumb, Abnormal heart morphology, External genital hypoplasia, Stage 5 chroni...	OMIM:613390
Respiratory Distress Syndrome In Premature Infants	Pulmonary edema, Neonatal respiratory distress, Atelectasis	OMIM:267450
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:619466
Surfactant Metabolism Dysfunction, Pulmonary, 1	Neonatal respiratory distress, Absent bronchoalveolar dimeric surfactant-protein B, Intraalveolar...	OMIM:265120
Polycystic Kidney Disease 5	Hyperechogenic kidneys, Hepatosplenomegaly, Stage 5 chronic kidney disease, Reduced renal cortico...	OMIM:617610
Atrial Septal Defect 1	Aortic valve stenosis, Secundum atrial septal defect, Tetralogy of Fallot with pulmonary atresia,...	OMIM:108800
Ciliary Dyskinesia, Primary, 33	Recurrent pneumonia, Atelectasis, Recurrent bronchitis, Recurrent lower respiratory tract infecti...	OMIM:616726
Pallister-Hall Syndrome	Natal tooth, Distal shortening of limbs, Cryptorchidism, Ventricular septal defect, Anal atresia,...	OMIM:146510
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	High, narrow palate, Unilateral renal agenesis, Renal hypoplasia, Long philtrum, Anteriorly place...	OMIM:618494
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
Muscle Filaminopathy	Proximal muscle weakness in lower limbs, Cardiomyopathy, EMG: myopathic abnormalities, Weakness o...	ORPHA:171445
Congenital Lobar Emphysema	Emphysema	ORPHA:1928
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Cryptorchidism, Protruding tongue, Ventricular septal defect, Absent frontal sinuses, Widely-spac...	OMIM:301040
Pulmonic Stenosis, Atrial Septal Defect, And Unique Electrocardiographic Abnormalities	Secundum atrial septal defect, Pulmonic stenosis	OMIM:178650
Surfactant Metabolism Dysfunction, Pulmonary, 3	Crazy paving pattern, Reticular pattern on pulmonary HRCT, Usual interstitial pneumonia, Intraalv...	OMIM:610921
Sotos Syndrome	High, narrow palate, Depressed nasal bridge, Narrow palate, Broad nasal tip, Enlarged naris, Musc...	OMIM:117550
Hadziselimovic Syndrome	Ventricular hypertrophy, Renal hypoplasia, Thick lower lip vermilion, Tetralogy of Fallot, Anteve...	OMIM:612946
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcepha...	OMIM:608716
Meckel Syndrome, Type 7	Aortic valve stenosis, Multicystic kidney dysplasia, Hepatosplenomegaly, Stage 5 chronic kidney d...	OMIM:267010
Congenital Disorder Of Glycosylation, Type Il	Depressed nasal bridge, Long philtrum, Villous atrophy, Wide mouth, Splenomegaly, Hepatomegaly, A...	OMIM:608776
Frontometaphyseal Dysplasia 1	Hypoplasia of the musculature, Mitral valve prolapse, Absent frontal sinuses, High palate, Cor pu...	OMIM:305620
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Proximal muscle weakness in lower limbs, Small hand, Aortic root aneurysm, Narrow mouth, Urinary ...	ORPHA:280633
Cardiomyopathy, Dilated, 2D	Dilated cardiomyopathy, Muscular ventricular septal defect, Patent foramen ovale, Interstitial ca...	OMIM:619371
Weiss-Kruszka Syndrome	Abnormal heart morphology, Decreased response to growth hormone stimulation test, Cryptorchidism,...	ORPHA:502430
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Dilated cardiomyopathy, Quadriceps muscle weakness, Elbow flexion contracture, Abnormality of the...	ORPHA:206546
Atrial Septal Defect 9	Bicuspid aortic valve, Secundum atrial septal defect	OMIM:614475
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal hypoplasia, Hydroureter, Hyperechogenic kidneys, Renal insufficiency, Ureteropelvic junctio...	OMIM:143400
Maternal Phenylketonuria	Hypoplastic left heart, Wide nasal bridge, Long philtrum, Tetralogy of Fallot, Abnormal heart mor...	ORPHA:2209
Fetal Akinesia Syndrome, X-Linked	Stillbirth, Agenesis of corpus callosum	OMIM:300073
Beaulieu-Boycott-Innes Syndrome	Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Recu...	OMIM:613680
Feingold Syndrome Type 1	Multiple muscular ventricular septal defects, Micrognathia, Abnormality of the kidney, Anal atres...	ORPHA:391641
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Unilateral renal agenesis, Short distal phalanx of finger, Underdeveloped nasal alae, Truncus art...	OMIM:601355
Verheij Syndrome	Wide nasal bridge, Short 5th finger, Renal hypoplasia, Broad nasal tip, Renal agenesis, Long phil...	OMIM:615583
X-Linked Neurodegenerative Syndrome, Bertini Type	Death in infancy, Agenesis of corpus callosum	ORPHA:85334
Catel-Manzke Syndrome	Oral synechia, Camptodactyly of finger, Micrognathia, Malar flattening, Ventricular septal defect...	ORPHA:1388
Mesoaxial Hexadactyly And Cardiac Malformation	External genital hypoplasia, Ventricular septal defect, Atrial septal defect, Everted lower lip v...	OMIM:249670
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dysgenesis of the basal ganglia, Focal polymicrogyria, Primary microcephaly, Cortical dysplasia, ...	OMIM:615771
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomyocyte hypertrophy, Hypertrophic cardiomyopathy, Concentric hypertrophic cardiomyopathy, E...	OMIM:618052
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Hepatomegaly, Ventricular hypertrophy, Left ventricular hypertrophy, Increased urine succinate level	OMIM:619048
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation	Thick lower lip vermilion, Micrognathia, Ventricular septal defect, Atrial septal defect, Short p...	OMIM:608227
Testicular Anomalies With Or Without Congenital Heart Disease	Microphallus, Tetralogy of Fallot, Corpus cavernosum hypoplasia, Cryptorchidism, Testicular dysge...	OMIM:615542
Periventricular Nodular Heterotopia 8	Periventricular nodular heterotopia, Reduced cerebral white matter volume	OMIM:618185
Bronchopulmonary Dysplasia	Atelectasis, Emphysema, Abnormal lung morphology, Pulmonary sequestration, Respiratory failure re...	ORPHA:70589
Holzgreve Syndrome	Hypoplastic left heart, Renal hypoplasia, Renal agenesis, Cleft upper lip, Cleft palate	OMIM:236110
Suleiman-El-Hattab Syndrome	Wide nasal bridge, Microretrognathia, Downturned corners of mouth, Long philtrum, Thick lower lip...	OMIM:618950
Bazex Syndrome	Liposarcoma, Lung adenocarcinoma, Neoplasm	ORPHA:166113
Microcephaly 30, Primary, Autosomal Recessive	Secundum atrial septal defect, Cleft soft palate, Thin upper lip vermilion, Choanal stenosis, Pie...	OMIM:620183
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respiratory insuf...	ORPHA:60032
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Right ventricular ...	OMIM:253700
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Myopathy, Hepatomegaly, High palate, Patent ductu...	OMIM:612541
Urofacial Syndrome 1	Urethral obstruction, Hydroureter, Recurrent urinary tract infections, Cryptorchidism, Hydronephr...	OMIM:236730
Prune Belly Syndrome	Hydroureter, Xerostomia, Cryptorchidism, Aplasia of the abdominal wall musculature, Hydronephrosi...	OMIM:100100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Muscular dystrophy, Open mouth, Cryptorchidism, Left ventricular hypertrophy, Micropenis, Macrogl...	OMIM:613156
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Increased endomysi...	ORPHA:353
Atrial Septal Defect 5	Secundum atrial septal defect	OMIM:612794
Atrial Septal Defect 3	Secundum atrial septal defect	OMIM:614089
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma	ORPHA:79152
8Q12 Microduplication Syndrome	Wide nasal bridge, Long philtrum, Vesicoureteral reflux, Narrow mouth, Ventricular septal defect,...	ORPHA:228399
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Colonic diverticula, Renal insufficiency, Hepatic cysts, Cerebral berry aneurysm, Mitral valve pr...	OMIM:173900
Cardiomyopathy, Familial Hypertrophic, 20	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:613876
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Bronchiectasis, Atelectasis	OMIM:615872
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Allergic Bronchopulmonary Aspergillosis	Emphysema, Bronchiectasis, Respiratory insufficiency	ORPHA:1164
Houge-Janssens Syndrome 3	Broad nasal tip, Muscular ventricular septal defect, Short philtrum, Atrial septal defect, High p...	OMIM:618354
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Depressed nasal bridge, Narrow mouth, Ventricular septal defect, Abnormal nasal morphology, Abnor...	ORPHA:83473
Pmp22-Rai1 Contiguous Gene Duplication Syndrome	Distal amyotrophy, Long philtrum, Abnormal heart morphology, Foot dorsiflexor weakness, Patent fo...	ORPHA:477817
Hoxha-Aliu Syndrome	Wide nasal bridge, Short distal phalanx of finger, Short fifth metatarsal, Short 4th toe, Foot ol...	OMIM:620662
Autosomal Recessive Amelia	Small scrotum, Micrognathia, Amelia, Cryptorchidism, Acromelia of the lower limbs, Orofacial clef...	ORPHA:1027
Congenital Fibrinogen Deficiency	Gingival bleeding, Volvulus, Hemorrhagic ovarian cyst, Decreased testicular size, Left ventricula...	ORPHA:335
Usher Syndrome, Type 1M	Left ventricular hypertrophy	OMIM:618632
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome	Tooth agenesis, Micrognathia, Abnormal palate morphology, Abnormal mitral valve morphology, Conve...	ORPHA:1277
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Ventricular septal...	OMIM:613870
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	High, narrow palate, Short distal phalanx of finger, Renal agenesis, Underdeveloped nasal alae, M...	ORPHA:2516
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Recurrent aspiration pneumonia, Dysphagia, Respiratory failure, Respiratory insufficiency due to ...	ORPHA:2590
Lissencephaly Due To Tuba1A Mutation	Dysgenesis of the basal ganglia, Polymicrogyria, Hypoplasia of the corpus callosum, Agenesis of c...	ORPHA:171680
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis	Secundum atrial septal defect, Gonadal dysgenesis	OMIM:611926
Czeizel-Losonci Syndrome	Abnormality of the urinary system, Ureteral agenesis, Micrognathia, Hydronephrosis, Hypoplastic n...	ORPHA:2437
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Dysphagia, Respiratory failure, Pulmonary hypoplasia	OMIM:616867
Cystic Hamartoma Of Lung And Kidney	Recurrent respiratory infections, Pulmonary fibrosis, Respiratory insufficiency	ORPHA:2111
Immunodeficiency 110 With Lymphoproliferation	Recurrent upper respiratory tract infections, Secundum atrial septal defect, Recurrent aphthous s...	OMIM:614868
Subependymal Nodular Heterotopia	Occipital encephalocele, Focal cortical dysplasia, Polymicrogyria, Myelomeningocele, Abnormality ...	ORPHA:101030
Pandas	Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t...	ORPHA:66624
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Aplasia of the proximal phalanges of...	ORPHA:2256
Peroxisome Biogenesis Disorder 3A (Zellweger)	Wide nasal bridge, Hepatomegaly, Polycystic kidney dysplasia, Vascular dilatation	OMIM:614859
Aorta Coarctation	Hypoplastic left heart, Tetralogy of Fallot, Coronary artery atherosclerosis, Cardiomegaly, Strok...	ORPHA:1457
Congenital Heart Defects, Multiple Types, 4	Aortic valve stenosis, Hypoplastic left heart, Tetralogy of Fallot, Atrioventricular canal defect...	OMIM:615779
Cheilitis Glandularis	Squamous cell carcinoma, Neoplasm	ORPHA:1221
Mckusick-Kaufman Syndrome	Hypoplastic left heart, Multicystic kidney dysplasia, Hydrometrocolpos, Tetralogy of Fallot, Glan...	ORPHA:2473
3C Syndrome	Aortic valve stenosis, Micrognathia, Abnormal mitral valve morphology, Ventricular septal defect,...	ORPHA:7
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Delayed eruption of permanent teeth, Exaggerated cupid's bow, Ventricular septa...	OMIM:618506
Down Syndrome	Narrow mouth, Open mouth, Protruding tongue, Renal hypoplasia/aplasia, Ventricular septal defect,...	ORPHA:870
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Broad nasal tip, Microretrognathia, Downturned corners of mouth, Intestinal malrotation, Prominen...	ORPHA:457193
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Dysgyria, Abnormal cerebral white matter morpholo...	ORPHA:352682
Corpus Callosum, Agenesis Of	Microcephaly, Agenesis of corpus callosum	OMIM:217990
Chromosome 15Q14 Deletion Syndrome	Cleft lip, Tented upper lip vermilion, Recurrent viral upper respiratory tract infections, Ventri...	OMIM:616898
Short Stature-Wormian Bones-Dextrocardia Syndrome	Midshaft hypospadias, Wide nasal bridge, Broad alveolar ridges, Delayed eruption of teeth, Tooth ...	ORPHA:2863
Weiss-Kruszka Syndrome	Dextrotransposition of the great arteries, Anteverted nares, Exaggerated cupid's bow, Ventricular...	OMIM:618619
Autosomal Recessive Centronuclear Myopathy	Centrally nucleated skeletal muscle fibers, Bifid uvula, Retrognathia, Abnormal heart valve morph...	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	Unilateral renal agenesis, Depressed nasal bridge, Retrognathia, Crossed fused renal ectopia, Mic...	OMIM:618142
Intellectual Developmental Disorder, Autosomal Dominant 66	Cerebral cavernous malformation, Secundum atrial septal defect, Aortic root aneurysm, Transpositi...	OMIM:619910
Coenzyme Q10 Deficiency, Primary, 8	Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation, Renal dysplasia, F...	OMIM:616733
Tricuspid Atresia	Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s...	ORPHA:1209
Lethal Congenital Contracture Syndrome 2	Dilated cardiomyopathy, Skeletal muscle atrophy, Micrognathia, Ventricular septal defect, Hydrone...	OMIM:607598
Joubert Syndrome 18	Retrognathia, Horseshoe kidney, Ventricular septal defect, Renal cyst, Camptodactyly, Cleft palat...	OMIM:614815
Isolated Corpus Callosum Agenesis	Agenesis of corpus callosum	ORPHA:200
Infant Acute Respiratory Distress Syndrome	Pneumonia, Atelectasis, Respiratory tract infection, Pulmonary edema, Respiratory failure	ORPHA:70587
Dohle Bodies And Leukemia	Secundum atrial septal defect	OMIM:223350
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Hydronephrosis, Duplicated collecting system	OMIM:163850
Autosomal Recessive Primary Microcephaly	Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly, Pachygyria, Gray matt...	ORPHA:2512
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Meckel Syndrome 13	Flexion contracture, Micrognathia, Polycystic kidney dysplasia	OMIM:617562
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Bifid uvula, Secundum atrial septal defect, Downturned corners of mouth, Long philtrum, Hypertrop...	OMIM:619121
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Intraalveolar phospholipid accumulation, Respiratory insufficiency, Death in childhood, Death in ...	OMIM:618042
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:613874
Myofibrillar Myopathy 10	Ankle flexion contracture, Elbow flexion contracture, Knee flexion contracture, Left ventricular ...	OMIM:619040
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Lissencephaly, Thick cerebral cortex, Hypoplasia of the corpus callosum, Periventricular ribbonli...	OMIM:618677
Cardiomyopathy, Dilated, 1U	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613694
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Microcolon, Hydroureter, Abnormal heart morphology, Hydronephrosis, Fetal megacystis	OMIM:619362
Pulmonary Hemosiderosis	Pulmonary fibrosis, Recurrent intrapulmonary hemorrhage, Respiratory insufficiency	OMIM:178550
Pseudo-Torch Syndrome 2	Secundum atrial septal defect, Abnormal renal corticomedullary differentiation, Cerebral hemorrha...	OMIM:617397
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan...	ORPHA:2302
Endocardial Fibroelastosis	Restrictive cardiomyopathy, Endocardial fibroelastosis, Micrognathia, Cryptorchidism, Abnormal pa...	ORPHA:2022
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Pachygyria, Agyria, Gray matter heterotopia	ORPHA:1084
Wolfram Syndrome 1	Hydroureter, Cardiomyopathy, Stroke-like episode, Hydronephrosis, Neurogenic bladder, Testicular ...	OMIM:222300
Double Outlet Right Ventricle	Hypoplastic left heart, Depressed nasal bridge, Tetralogy of Fallot, Intestinal malrotation, Narr...	ORPHA:3426
Heart Defects, Congenital, And Other Congenital Anomalies	Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula...	OMIM:600001
17Q21.31 Microduplication Syndrome	Abnormality of the dentition, Anteverted nares, Micrognathia, Malar flattening, High palate, Shor...	ORPHA:217340
Even-Plus Syndrome	Depressed nasal ridge, Renal hypoplasia, Bifid nasal tip, Recurrent urinary tract infections, Ves...	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	Anteverted nares, Micrognathia, Thin upper lip vermilion, Short nose, Cleft palate	ORPHA:2015
Peroxisome Biogenesis Disorder 2A (Zellweger)	Aminoaciduria, Clitoral hypertrophy, Joint contracture of the hand, Abnormal heart morphology, Mi...	OMIM:214110
Global Developmental Delay With Or Without Impaired Intellectual Development	Bulbous nose, Ventricular septal defect, Oligodontia, Thin upper lip vermilion, Atrial septal def...	OMIM:618330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Micrognathia, Open mouth, Congenital diaphragmatic hernia, Atrial septal defect, Anal atresia, Hi...	OMIM:614080
Fryns Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Anal...	ORPHA:2059
Nephrotic Syndrome, Type 11	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl...	OMIM:616730
Ogden Syndrome	Flared nostrils, Everted upper lip vermilion, Thick upper lip vermilion, Micrognathia, Cryptorchi...	OMIM:300855
Chromosome 13Q33-Q34 Deletion Syndrome	Micrognathia, Open mouth, Cryptorchidism, Irregular dentition, Small thenar eminence, Anal atresi...	OMIM:619148
Koolen-De Vries Syndrome	Cryptorchidism, Bicuspid aortic valve, Everted lower lip vermilion, Hypospadias, High, narrow pal...	ORPHA:96169
Renal Dysplasia	Chronic kidney disease, Thickened glomerular basement membrane, Multicystic kidney dysplasia, Ure...	ORPHA:93108
Frank-Ter Haar Syndrome	Depressed nasal bridge, Broad nasal tip, Secundum atrial septal defect, Dental malocclusion, Ante...	OMIM:249420
Pontocerebellar Hypoplasia, Type 15	Death in infancy, Agenesis of corpus callosum, Hydrocephalus, Partial agenesis of the corpus call...	OMIM:619302
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Bifid uvula, Depressed nasal bridge, Abnormality of the dentition, Secundum atrial septal defect,...	OMIM:615802
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Narrow mouth, Abnormal oral cavity morphology, Hypospadi...	ORPHA:1355
Ciliary Dyskinesia, Primary, 39	Double outlet right ventricle, Dextrocardia	OMIM:618254
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Unilateral cleft lip, Hypertrophic cardiomyopathy, Anteverted nares, Micrognat...	OMIM:616897
Familial Nasal Acilia	Abnormal respiratory motile cilium morphology, Recurrent upper respiratory tract infections, Bron...	ORPHA:922
Phelan-Mcdermid Syndrome	Wide nasal bridge, Dental malocclusion, Long philtrum, Widely spaced teeth, Bulbous nose, Microgn...	OMIM:606232
Congenital Disorder Of Glycosylation, Type Iig	Small hand, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Short foot, Hypospadias, Pie...	OMIM:611209
Familial Visceral Myopathy	Hyperparathyroidism, Hydroureter, Megacystis, Camptodactyly of finger, Anteverted nares, Prominen...	ORPHA:2604
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Atrioventricular canal defect, Complete atrio...	OMIM:619142
Microphthalmia, Syndromic 9	Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial ...	OMIM:601186
Simpson-Golabi-Behmel Syndrome	Multicystic kidney dysplasia, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hern...	ORPHA:373
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Recurrent urinary tract infections, Stage 5 chronic kidney disease, Situs inversus totalis, Renal...	OMIM:613095
Li-Campeau Syndrome	Long philtrum, Patellar hypoplasia, Cryptorchidism, Patent foramen ovale, Ventricular septal defe...	OMIM:619189
Braddock-Carey Syndrome 1	Wide nasal bridge, Multicystic kidney dysplasia, Small hand, Anteriorly placed anus, Anteverted n...	OMIM:619980
Cantu Syndrome	Wide nasal bridge, Depressed nasal bridge, Congenital hypertrophy of left ventricle, Long philtru...	OMIM:239850
Congenital Myopathy 19	Depressed nasal ridge, Skeletal muscle atrophy, Congenital contracture, Micrognathia, Renal atrop...	OMIM:618578
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Unilateral renal agenesis, Parathyroid hypoplasia, Uterus didelphys, Abnormal heart morphology, S...	ORPHA:2237
Orofaciodigital Syndrome I	Carious teeth, Ankyloglossia, Ovarian cyst, High palate, Polycystic kidney dysplasia, Abnormal he...	OMIM:311200
Surfactant Metabolism Dysfunction, Pulmonary, 2	Recurrent pneumonia, Intralobular septal thickening, Spontaneous pneumothorax, Intraalveolar phos...	OMIM:610913
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Polymicrogyria, Hypoplasia of the corpus callosum, Abnormality of neuronal migration, Microcephal...	OMIM:604317
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Precocious puberty, Short distal phalanx of finger, Anteverted nares, Micrognathia, Open mouth, N...	OMIM:619356
Cat Eye Syndrome	Micrognathia, Ventricular septal defect, Atrial septal defect, Rectal atresia, Absent radius, Ana...	OMIM:115470
Lissencephaly 5	Leukoencephalopathy, Occipital encephalocele, Type II lissencephaly, Hypoplasia of the corpus cal...	OMIM:615191
Adams-Oliver Syndrome 4	Aplasia of the distal phalanges of the toes, Short toe, Aplasia of the middle phalanx of the 4th ...	OMIM:615297
Non-Distal Duplication 10Q	Depressed nasal bridge, Abnormality of the urinary system, Micrognathia, Cryptorchidism, Everted ...	ORPHA:1695
Mhc Class I Deficiency 1	Nasal polyposis, Bronchiolitis, Emphysema, Recurrent bronchitis, Bronchiectasis	OMIM:604571
Truncus Arteriosus	Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At...	ORPHA:3384
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Thin upper lip vermilion, Smooth philtrum, High palate, Secundum atrial septal defect	OMIM:620242
Chromosome 19Q13.11 Deletion Syndrome, Proximal	Hydroureter, Vesicoureteral reflux, Nephrolithiasis, Vascular dilatation, Pyloric stenosis	OMIM:617219
Noonan Syndrome 8	Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Left ventricular hypertro...	OMIM:615355
Renal-Hepatic-Pancreatic Dysplasia 1	Aortic valve stenosis, Renal dysplasia, Intestinal malrotation, Stage 5 chronic kidney disease, S...	OMIM:208540
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Right aortic arch, Patent foramen ovale, Chronic sinusitis, Cardiomegaly,...	OMIM:620642
Idiopathic Bronchiectasis	Emphysema, Respiratory tract infection, Acute infectious pneumonia, Recurrent lower respiratory t...	ORPHA:60033
Mucopolysaccharidosis, Type X	Aortic valve stenosis, Wide nasal bridge, Long philtrum, Diastema, Open bite, Widely spaced teeth...	OMIM:619698
Eng-Strom Syndrome	Camptodactyly of finger, Abnormal cardiac septum morphology, Ventricular septal defect	ORPHA:1937
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Left ventricular noncompaction, Open mouth, Cryptorchidism, Narrow mouth, Ventricular septal defe...	OMIM:300967
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Restrictive cardiomyopathy, Micrognathia, Atrial septal defect, Hypoparathyroidism, Renal dysplas...	ORPHA:369837
Alagille Syndrome 2	Renal hypoplasia, Peripheral pulmonary artery stenosis, Tetralogy of Fallot, Renal insufficiency,...	OMIM:610205
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu...	ORPHA:86812
Tetrasomy 15Q26	Microretrognathia, Horseshoe kidney, Hydronephrosis, Atrial septal defect, High palate, Camptodac...	OMIM:614846
Hamel Cerebro-Palato-Cardiac Syndrome	Wide nasal bridge, Bulbous nose, Micrognathia, Narrow mouth, Malar flattening, Atrial septal defe...	ORPHA:93946
Loeffler Endocarditis	Aortic valve stenosis, Restrictive cardiomyopathy, Endocardial fibrosis, Abnormal heart valve mor...	ORPHA:75566
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Cerebral atrophy, Absent septum pellucidum, Hypoplasia of the corpus callosum, Agenesis of corpus...	OMIM:618492
Congenital Myopathy 21 With Early Respiratory Failure	Lipoid pneumonia, Respiratory failure	OMIM:620326
Juvenile Myelomonocytic Leukemia	Juvenile myelomonocytic leukemia	OMIM:607785
Congenital Gerbode Defect	Bacterial endocarditis, Ventricular septal defect, Constrictive pericarditis, Perimembranous vent...	ORPHA:99095
Robinow Syndrome	Flared nostrils, Small scrotum, Multicystic kidney dysplasia, Tooth malposition, Ankyloglossia, M...	ORPHA:97360
Trisomy 13	High, narrow palate, Abnormality of the dentition, Long philtrum, Abnormal morphology of female i...	ORPHA:3378
Xk Aprosencephaly Syndrome	Narrow mouth, Ventricular septal defect, Atrial septal defect, Abnormal nostril morphology, Anal ...	ORPHA:3469
Ring Chromosome 12 Syndrome	High, narrow palate, Secundum atrial septal defect, Glandular hypospadias, Breast hypoplasia, Cry...	ORPHA:1439
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Muscular ventricular septal defect, Transie...	OMIM:115197
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Downturned corners of mouth, Malar flattening, Ventricular septal defect, Ectopic anus, Aplasia/H...	ORPHA:94066
Feingold Syndrome Type 2	Short middle phalanx of finger, Short thumb, Jejunal atresia, Ventricular septal defect	ORPHA:391646
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Recurrent pneumonia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness,...	ORPHA:254875
Renal Hypodysplasia/Aplasia 3	Multicystic kidney dysplasia, Renal agenesis, Abnormality of the uterus, Horseshoe kidney, Vesico...	OMIM:617805
Polysyndactyly With Cardiac Malformation	Anteverted nares, Hepatic cysts, Ventricular septal defect, Renal cyst, Atrial septal defect	OMIM:263630
8p23.1 deletion syndrome	Abnormal heart morphology, Atrioventricular canal defect, Congenital diaphragmatic hernia, Crypto...	DECIPHER:39
Distal Deletion 12Q	Micrognathia, Ectopic kidney, Duodenal atresia, Polycystic kidney dysplasia, Patent ductus arteri...	ORPHA:96149
Cranioacrofacial Syndrome	Pulmonic stenosis, Ventricular septal defect	OMIM:122850
Diamond-Blackfan Anemia 6	Ventricular hypertrophy, Bifid uvula, Short thumb, Cleft upper lip, Retrognathia, Tetralogy of Fa...	OMIM:612561
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o...	OMIM:217095
Cutis Laxa, Autosomal Recessive, Type Ic	Wide nasal bridge, Peripheral pulmonary artery stenosis, Multiple bladder diverticula, Morgagni d...	OMIM:613177
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Cryptorchidism, Ventricular septal defect, Hepatomegaly, Ectopic kidney, Cystic renal dysplasia	OMIM:613730
Pontocerebellar Hypoplasia, Type 14	Simplified gyral pattern, Hydrocephalus, Death in infancy, Agenesis of corpus callosum	OMIM:619301
Feingold Syndrome 2	Short thumb, Short middle phalanx of the 2nd finger, Ventricular septal defect, Intestinal atresi...	OMIM:614326
Fliedner-Zweier Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Long philtrum, Bulbous nose, Ventricular...	OMIM:620511
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
White Forelock With Malformations	Aplasia/Hypoplasia of the distal phalanges of the toes, Atrial septal defect, Prominent veins on ...	OMIM:277740
Raine Syndrome	Choanal atresia, Depressed nasal bridge, Mandibular prognathia, Hydroureter, Natal tooth, Arthrog...	OMIM:259775
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Cholelithiasis, Abnormality of the male genitalia, Prominent nose, Renal tubul...	OMIM:614886
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Narrow palate, Dilated cardiomyopathy, Renal dysplasia, Nasal congestion, Elbow flexion contractu...	OMIM:608836
Congenital Disorder Of Glycosylation, Type Ih	Protein-losing enteropathy, Long philtrum, Cryptorchidism, Perimembranous ventricular septal defe...	OMIM:608104
Zaki Syndrome	Wide nasal bridge, Renal agenesis, Median pseudocleft lip, Anteverted nares, Micrognathia, Hypopl...	OMIM:619648
Heterotaxy, Visceral, 5, Autosomal	Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ventricle, Double inlet lef...	OMIM:270100
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Hydronephrosis, Bifid uvula, Abnormality of the urinary system	ORPHA:2669
Idiopathic Acute Eosinophilic Pneumonia	Abnormal pleura morphology, Respiratory insufficiency	ORPHA:724
Johanson-Blizzard Syndrome	Abnormality of the dentition, Abnormal vagina morphology, Underdeveloped nasal alae, Delayed erup...	ORPHA:2315
Distal 7Q11.23 Microdeletion Syndrome	Patent ductus arteriosus, Atrial septal defect	ORPHA:254351
Teebi Hypertelorism Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Small hand, Aortic root aneurysm, Natal tooth, Long ph...	OMIM:145420
Genitopatellar Syndrome	Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Delayed eruption of teeth, Lon...	ORPHA:85201
Genitopalatocardiac Syndrome	Wide nasal bridge, Multicystic kidney dysplasia, Downturned corners of mouth, Micrognathia, Crypt...	ORPHA:2075
Noonan Syndrome 4	Depressed nasal bridge, Dental malocclusion, Hypertrophic cardiomyopathy, Cryptorchidism, Ventric...	OMIM:610733
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Increased urine alpha-ketoglutarate concentration, Wide nasal bridge, Short 5th finger, Short dis...	OMIM:220500
Craniotelencephalic Dysplasia	Agenesis of corpus callosum, Microcephaly, Hydrocephalus, Frontal encephalocele, Septo-optic dysp...	ORPHA:1528
Vesicoureteral Reflux 3	Hydroureter, Grade IV vesicoureteral reflux, Recurrent urinary tract infections, Grade III vesico...	OMIM:613674
Tetraamelia Syndrome 2	Absent nipple, Microretrognathia, Ankyloglossia, Micrognathia, Amelia, Ventricular septal defect,...	OMIM:618021
Meckel Syndrome 14	Microretrognathia, Retrognathia, Anteverted nares, Micrognathia, Aplasia of the uterus, Ambiguous...	OMIM:619879
Renal Tubular Dysgenesis	Nephropathy, Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts	ORPHA:3033
Pneumocystosis	Respiratory insufficiency, Interstitial pneumonitis, Pleural effusion, Multiple pulmonary cysts, ...	ORPHA:723
Congenital Alveolar Capillary Dysplasia	Aortic valve stenosis, Hypoplastic left heart, Annular pancreas, Volvulus, Duodenal stenosis, Tet...	ORPHA:210122
Floating-Harbor Syndrome	Carious teeth, Dilatation of the renal pelvis, Cryptorchidism, Atrial septal defect, Long nose, C...	ORPHA:2044
Atrial Fibrillation, Familial, 10	Stroke, Left atrial enlargement, Left ventricular hypertrophy, Right ventricular dilatation	OMIM:614022
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Multicystic kidney dysplasia, Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Neopla...	ORPHA:2241
Heterotaxy, Visceral, 4, Autosomal	Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ...	OMIM:613751
Schinzel-Giedion Midface Retraction Syndrome	Small scrotum, Hypoplastic labia majora, Atrial septal defect, Abnormal nasopharynx morphology, S...	OMIM:269150
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Increased urine alpha-ketoglutarate concentration, Left ventricular hypertrophy	OMIM:614458
Perlman Syndrome	Wide nasal bridge, High, narrow palate, Retrognathia, Abnormal pancreas morphology, Anteverted na...	ORPHA:2849
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Microcephaly	OMIM:618276
Developmental Delay With Or Without Dysmorphic Facies And Autism	Small scrotum, Supernumerary nipple, Micrognathia, Cryptorchidism, Congenital diaphragmatic herni...	OMIM:618454
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Wide nasal bridge, Protein-losing enteropathy, Pancreatic lymphangiectasis, Micrognathia, Cryptor...	OMIM:235255
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Rig...	ORPHA:439
Skraban-Deardorff Syndrome	Depressed nasal bridge, Hyperplasia of the maxilla, Widely spaced teeth, Thick upper lip vermilio...	OMIM:617616
Heart Defects-Limb Shortening Syndrome	Mesomelic/rhizomelic limb shortening, Abnormal tricuspid valve morphology, Abnormal mitral valve ...	ORPHA:1354
Heterotaxy, Visceral, 1, X-Linked	Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocardia, Single ve...	OMIM:306955
Craniotelencephalic Dysplasia	Lissencephaly, Absent septum pellucidum, Frontal encephalocele, Agenesis of corpus callosum	OMIM:218670
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Arteriovenous malformation, Aplasia/Hypoplasia of the uvula, Micro...	ORPHA:84
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:300717
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Mesomelia, Short distal phalanx of finger, Renal hypoplasia, Hypoplastic scapulae, Short uvula, M...	OMIM:614091
Cardiomyopathy, Familial Hypertrophic, 8	Restrictive cardiomyopathy, Endocardial fibrosis, Hypertrophic cardiomyopathy, Left atrial enlarg...	OMIM:608751
Hajdu-Cheney Syndrome	Dental malocclusion, Long philtrum, Intestinal malrotation, Anteverted nares, Micrognathia, Narro...	OMIM:102500
Chromosome 15Q26-Qter Deletion Syndrome	Wide nasal bridge, Micrognathia, Cryptorchidism, Abnormal cardiac septum morphology, Micropenis, ...	OMIM:612626
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Thin vermilion border, Narrow mouth, Abnormal cardiac septum morphology, Short nose	ORPHA:2370
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Joint contracture of the hand, Small hand, Narrow mouth, Cryptorchidism, Ventricular septal defec...	OMIM:235510
Fixed Subaortic Stenosis	Bacterial endocarditis, Abnormal heart morphology, Atrioventricular canal defect, Ventricular sep...	ORPHA:3092
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Mesomelia, Microglossia, Hamartoma of tongue, Intestinal malrotation, Ventricular septal defect, ...	OMIM:263520
Lowry-Maclean Syndrome	Delayed eruption of teeth, Abnormal heart morphology, Convex nasal ridge, Cleft palate, Diaphragm...	OMIM:600252
Periventricular Nodular Heterotopia 7	Microretrognathia, Dental crowding, Contracture of the proximal interphalangeal joint of the 2nd ...	OMIM:617201
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Hypoplastic nasal bridge, Dilatation of the renal pelvis, Retrognathia, Long philtrum, Left ventr...	OMIM:620510
Kleefstra Syndrome	Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Everted l...	ORPHA:261494
8P Inverted Duplication/Deletion Syndrome	Precocious puberty, Wide nasal bridge, High, narrow palate, Abnormality of the urinary system, Sm...	ORPHA:96092
Kallmann Syndrome-Heart Disease Syndrome	Partial anosmia, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Renal agenesis, Bilateral c...	ORPHA:2326
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Depressed nasal bridge, Aplastic clavicle, Micromelia, Hamartoma of tongue, Congenital diaphragma...	OMIM:616546
Filippi Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Serrated incisors, Abnormal dental morphology, Cryp...	OMIM:272440
Chromosome 1P36 Deletion Syndrome, Proximal	Bifid nasal tip, Dilated cardiomyopathy, Cleft lip, Biventricular hypertrophy, Coronary artery fi...	OMIM:619343
Baraitser-Winter Cerebrofrontofacial Syndrome	Wide nasal bridge, Hydroureter, Retrognathia, Long philtrum, Transient ischemic attack, Depressed...	ORPHA:2995
Larsen-Like Syndrome, Lethal Type	Neonatal death, Respiratory insufficiency, Pulmonary hypoplasia	OMIM:245650
Isolated Succinate-Coq Reductase Deficiency	Distal amyotrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Vesicoureteral reflux, K...	ORPHA:3208
Cardiac Diverticulum	Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept...	ORPHA:1686
2p15-16.1 microdeletion syndrome	Hydronephrosis, Camptodactyly of finger	DECIPHER:70
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Biventricular hypertrophy, Patent foramen ovale, Nephrolithiasis, Ventricular septal defect, Left...	OMIM:615474
Mullegama-Klein-Martinez Syndrome	Hypoplastic left heart, Wide nasal bridge, Depressed nasal bridge, Cleft lip, Bifid uvula, Submuc...	OMIM:301022
Tetralogy Of Fallot	Tetralogy of Fallot, Abnormal nasal morphology, Cryptorchidism, Thin vermilion border	ORPHA:3303
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Mucolipidosis Type Iii Alpha/Beta	Depressed nasal bridge, Recurrent upper respiratory tract infections, Oligosacchariduria, Keratan...	ORPHA:423461
Lethal Osteosclerotic Bone Dysplasia	Depressed nasal ridge, Retrognathia, Anteverted nares, Gingival overgrowth, Median cleft palate, ...	ORPHA:1832
Acute Interstitial Pneumonia	Reticulonodular pattern on pulmonary HRCT, Atelectasis, Interlobular septal thickening, Nodular p...	ORPHA:79126
Hypermethioninemia Due To Adenosine Kinase Deficiency	Coarctation of aorta, Secundum atrial septal defect, Pulmonic stenosis, Skeletal muscle atrophy	OMIM:614300
Cardiomyopathy, Familial Hypertrophic, 14	Hypertrophic cardiomyopathy, Left ventricular hypertrophy	OMIM:613251
Femoral-Facial Syndrome	Micrognathia, Cryptorchidism, Ventricular septal defect, Hypoplastic labia majora, Aplasia/hypopl...	OMIM:134780
Oculoauriculofrontonasal Syndrome	Bifid nasal tip, Cleft lip, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Ventricular se...	ORPHA:398156
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Short 5th finger, Broad nasal tip, Cleft upper lip, Abnormal heart morphology, Mic...	OMIM:239800
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Hydroureter, Abnormality of the u...	ORPHA:2973
Peroxisome Biogenesis Disorder 8A (Zellweger)	Hepatomegaly, Glossoptosis, Ventricular septal defect	OMIM:614876
Lissencephaly 6 With Microcephaly	Polymicrogyria, Periventricular heterotopia, Hypoplasia of the corpus callosum, Microcephaly, Mic...	OMIM:616212
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Emphysema, Respiratory tract infection, Chronic bronchitis, Honeycomb lung, Hypersensitivity pneu...	ORPHA:79127
Tracheobronchopathia Osteochondroplastica	Pneumonia, Recurrent pneumonia, Bronchitis, Atelectasis, Respiratory insufficiency, Recurrent res...	ORPHA:3348
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Micrognathia, Ventricular septal defect, Bicuspid aortic valve, Hypospadias, Short 5th finger, Re...	ORPHA:508498
Nemaline Myopathy 8	Dysphagia, Respiratory failure, Death in infancy	OMIM:615348
Acute Lung Injury	Pneumonia, Diffuse alveolar hemorrhage, Addictive alcohol use, Abnormal pulmonary interstitial mo...	ORPHA:178320
Heterotaxy, Visceral, 6, Autosomal	Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana...	OMIM:614779
Charge Syndrome	Micrognathia, Cryptorchidism, Ventricular septal defect, Overriding aorta, Atrial septal defect, ...	OMIM:214800
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema	OMIM:618307
Baller-Gerold Syndrome	Finger aplasia, Aplasia/Hypoplasia of the radius, Anteriorly placed anus, Abnormality of the uret...	ORPHA:1225
Hardikar Syndrome	Hepatosplenomegaly, Cleft soft palate, Ventricular septal defect, Bilateral cleft palate, Atrial ...	OMIM:301068
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Duplicated collecting system, Megarectum, Arthrogryposis multiplex congenita, Retrognathia, Vesic...	OMIM:301056
Ventriculomegaly And Arthrogryposis	Agenesis of corpus callosum	OMIM:619501
Alpha-1-Antitrypsin Deficiency	Bronchiectasis, Panacinar emphysema, Chronic bronchitis	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	Abnormal heart morphology, Anteverted nares, Protruding tongue, Short nose	DECIPHER:52
Distal Duplication 5Q	Carious teeth, Absent thumb, Long philtrum, Prominent nasal bridge, Narrow mouth, Cryptorchidism,...	ORPHA:96097
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	High, narrow palate, Increased variability in muscle fiber diameter, Type 1 muscle fiber predomin...	OMIM:612949
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Protein-losing enteropathy, Broad nasal tip, Abnormality of the uterus, Pancreatic lymphangiectas...	ORPHA:1655
Dilated Cardiomyopathy With Ataxia	Generalized amyotrophy, Dilated cardiomyopathy, Bilateral cryptorchidism, Muscular ventricular se...	ORPHA:66634
Mosaic Trisomy 9	Endocardial fibroelastosis, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septa...	ORPHA:99776
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Gonadal dysgenesis, Abnormality of the ureter, Short columella, Polycystic ovaries, Renal hypopla...	ORPHA:1770
Renal Agenesis	Unilateral renal agenesis, Absent vas deferens, Renal agenesis, Aplasia/hypoplasia of the uterus,...	ORPHA:411709
Adams-Oliver Syndrome 5	Splenomegaly, Patent foramen ovale, Esophageal varix, Right atrial enlargement, Right ventricular...	OMIM:616028
Intellectual Developmental Disorder, Autosomal Recessive 79	Wide nasal bridge, Broad nasal tip, Ventricular septal defect, Thin upper lip vermilion, Smooth p...	OMIM:620393
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:611722
Intellectual Disability, Buenos-Aires Type	Wide nasal bridge, Dental malocclusion, Open bite, Abnormal dental morphology, Hydronephrosis, Ab...	ORPHA:3079
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Stroke-like episode, Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers	OMIM:540000
Cardiomyopathy, Dilated, 1V	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613697
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Unbalanced atrioventricular canal defect, Intestinal malrotation, Dextrotransposition of the grea...	OMIM:619657
Arboleda-Tham Syndrome	Narrow mouth, Ventricular septal defect, Short hallux, Atrial septal defect, Patent ductus arteri...	OMIM:616268
Heterotaxy, Visceral, 12, Autosomal	Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,...	OMIM:619702
Craniofacioskeletal Syndrome	Interrupted aortic arch, Choanal atresia, Small hand, Micrognathia, Absent gallbladder, Cryptorch...	OMIM:300712
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Pulmonary hypoplasia	OMIM:615228
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:616081
Bardet-Biedl Syndrome 10	Hypogonadism, Renal cyst, Renal insufficiency	OMIM:615987
46,Xy Sex Reversal 4	Depressed nasal ridge, Renal dysplasia, Gonadal dysgenesis, Long philtrum, Prominent nose, Anteve...	OMIM:154230
Partial Atrioventricular Septal Defect	Aortic valve stenosis, Hypoplastic left heart, Bacterial endocarditis, Coronary sinus enlargement...	ORPHA:1330
Congenital Heart Defects, Multiple Types, 9	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:620294
Scimitar Syndrome	Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar...	ORPHA:185
Abruzzo-Erickson Syndrome	Short toe, Cryptorchidism, Abnormal palate morphology, Malar flattening, Atrial septal defect, Co...	ORPHA:921
X-Linked Intellectual Disability, Schimke Type	Ankle flexion contracture, Elbow flexion contracture, Narrow nasal bridge, Vesicoureteral reflux,...	ORPHA:85285
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle...	OMIM:604292
Image Syndrome	Depressed nasal bridge, Micromelia, Hypogonadism, Cryptorchidism, Hydronephrosis, Hypospadias	ORPHA:85173
Congenital Tricuspid Valve Dysplasia	Abnormal tricuspid valve annulus morphology, Patent foramen ovale, Cardiomegaly, Tricuspid valve ...	ORPHA:555874
Beta-Mercaptolactate Cysteine Disulfiduria	Micromelia, Abnormality of the ureter, Anteverted nares, Atrial septal defect, Convex nasal ridge...	ORPHA:1035
Serkal Syndrome	Abnormal penis morphology, Malrotation of small bowel, Hypoplasia of the bladder, Renal agenesis,...	ORPHA:139466
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy	OMIM:616974
Tracheal Agenesis	Aplasia/Hypoplasia of the lungs, Respiratory insufficiency	ORPHA:3346
Alg12-Cdg	Biventricular hypertrophy, Muscular ventricular septal defect, Intestinal malrotation, Prominent ...	ORPHA:79324
Microcephaly 17, Primary, Autosomal Recessive	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microlissencephaly, Primary micro...	OMIM:617090
Polycystic Kidney Disease 7	Stage 5 chronic kidney disease, Renal atrophy, Renal insufficiency, Renal interstitial fibrosis, ...	OMIM:620056
9Q21.13 Microdeletion Syndrome	Downturned corners of mouth, Abnormal tongue morphology, Abnormal heart morphology, Cryptorchidis...	ORPHA:531151
8P23.1 Microdeletion Syndrome	Hypoplastic left heart, Wide nasal bridge, Tetralogy of Fallot, Hypertrophic cardiomyopathy, Atri...	ORPHA:251071
C Syndrome	Wide nasal bridge, Clitoral hypertrophy, Micromelia, Anteverted nares, Renal cortical cysts, Micr...	OMIM:211750
Simpson-Golabi-Behmel Syndrome, Type 1	Exaggerated median tongue furrow, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic ...	OMIM:312870
Mitochondrial Complex I Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Skeletal muscle atrophy	OMIM:618228
Intellectual Developmental Disorder, Autosomal Recessive 18, With Or Without Epilepsy	Atrial septal defect, Ventricular septal defect	OMIM:614249
Kury-Isidor Syndrome	Long philtrum, Widely spaced teeth, Anteverted nares, Tented upper lip vermilion, Ventricular sep...	OMIM:619762
Congenital Heart Defects And Skeletal Malformations Syndrome	Carious teeth, Aortic root aneurysm, Downturned corners of mouth, Dental crowding, Intestinal mal...	OMIM:617602
Basel-Vanagaite-Smirin-Yosef Syndrome	Clitoral hypertrophy, Retrognathia, Furrowed tongue, Anteverted nares, Tented upper lip vermilion...	OMIM:616449
Syndromic Diarrhea	Wide nasal bridge, Peripheral pulmonary artery stenosis, Renal hypoplasia, Abnormal heart morphol...	ORPHA:84064
Wolfram Syndrome, Mitochondrial Form	Hydronephrosis, Hydroureter	OMIM:598500
Branchiootorenal Syndrome 1	Unilateral renal agenesis, Bifid uvula, Renal malrotation, Abnormal renal collecting system morph...	OMIM:113650
Inverted Duplicated Chromosome 15 Syndrome	Precocious puberty, Unilateral renal agenesis, Broad nasal tip, Gonadal dysgenesis, Tetralogy of ...	ORPHA:3306
Multiple Acyl-Coa Dehydrogenase Deficiency	3-Methylglutaric aciduria, Glutaric aciduria, Depressed nasal bridge, Skeletal muscle atrophy, Ca...	ORPHA:26791
Lambert Syndrome	Wide mouth, Hypospadias, Malar flattening, Ventricular septal defect	ORPHA:1296
German Syndrome	Wide nasal bridge, Depressed nasal bridge, Camptodactyly of finger, Tetralogy of Fallot, Microgna...	ORPHA:2077
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Wide nasal bridge, Short 3rd metacarpal, Short 4th toe, Short thumb, Muscular ventricular septal ...	OMIM:618569
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, Macrodontia, High palate, Short foot, Short nose	OMIM:300577
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy	OMIM:620145
Linear Skin Defects With Multiple Congenital Anomalies 2	Ventricular hypertrophy, Long philtrum, Tetralogy of Fallot, Congenital diaphragmatic hernia, Atr...	OMIM:300887
Aortic Valve Disease 1	Aortic valve stenosis, Aortic valve calcification, Tetralogy of Fallot, Mitral atresia, Mitral st...	OMIM:109730
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci...	OMIM:145001
Thymic-Renal-Anal-Lung Dysplasia	Ureteral agenesis, Anal atresia, Ureteral dysgenesis, Renal agenesis	OMIM:274265
Amyotrophic Lateral Sclerosis 28	Dysphagia, Respiratory failure	OMIM:620452
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Supernumerary nipple, Open mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect...	ORPHA:466791
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Interstitial pneumonitis, Respiratory failure	OMIM:620296
Robinow Syndrome, Autosomal Dominant 3	Micrognathia, Cryptorchidism, Ventricular septal defect, Micropenis, Patent ductus arteriosus, Sh...	OMIM:616894
Recombinant 8 Syndrome	Small scrotum, Micrognathia, Cryptorchidism, Patellar aplasia, Ventricular septal defect, Atrial ...	ORPHA:96167
10Q22.3Q23.3 Microduplication Syndrome	Abnormality of the dentition, Microretrognathia, Tetralogy of Fallot, Ambiguous genitalia, Abnorm...	ORPHA:276422
Cardiospondylocarpofacial Syndrome	Wide nasal bridge, Long philtrum, Muscular ventricular septal defect, Horseshoe kidney, Decreased...	OMIM:157800
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Abnormality of the dentition, Multicystic kidney dysplasia, Carious teeth, Prominent nose, Promin...	ORPHA:3270
Pseudotrisomy 13 Syndrome	Renal hypoplasia, Renal agenesis, Cleft upper lip, 11 pairs of ribs, Median cleft palate, Complet...	OMIM:264480
Heterotaxy, Visceral, 8, Autosomal	Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def...	OMIM:617205
Intellectual Developmental Disorder, Autosomal Recessive 73	Widely spaced teeth, Thick upper lip vermilion, Ventricular septal defect, Deep philtrum, Patent ...	OMIM:619717
Epilepsy, Progressive Myoclonic, 9	Simplified gyral pattern, Agenesis of corpus callosum	OMIM:616540
Cardiomyopathy, Familial Hypertrophic, 10	Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Ventricular septal hypertrophy, Left ...	OMIM:608758
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Arthrogryposis-like hand anomaly, Mandibular prognathi...	ORPHA:369891
Hypoplastic Left Heart Syndrome 2	Hypoplastic left heart, Aortic valve atresia, Mitral atresia, Ventricular septal defect	OMIM:614435
Coffin-Siris Syndrome 1	Clitoral hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect,...	OMIM:135900
Galloway-Mowat Syndrome 7	Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Dilated cardiomyopathy, Cl...	OMIM:618348
Thakker-Donnai Syndrome	Downturned corners of mouth, Tetralogy of Fallot, Bulbous nose, Anteverted nares, Narrow mouth, C...	ORPHA:1780
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	High, narrow palate, Red-brown urine, Cardiomyopathy, Dicarboxylic aciduria, Renal insufficiency,...	ORPHA:228308
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Ventricular hypertrophy, Choanal atresia, Depressed nasal bridge, Abnormal heart morphology, Bulb...	ORPHA:284169
Macdermot-Winter Syndrome	Hydronephrosis, Hypoplastic male external genitalia, Camptodactyly of finger	OMIM:247990
Rubinstein-Taybi Syndrome 1	Micrognathia, Narrow mouth, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Atr...	OMIM:180849
Weyers Ulnar Ray/Oligodactyly Syndrome	Mesomelia, Finger aplasia, Absent thumb, Cleft upper lip, Micrognathia, Hydronephrosis, Solitary ...	OMIM:602418
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Dysphagia, Respiratory failure, Respiratory insufficiency	ORPHA:266
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Teebi-Shaltout Syndrome	Aortic valve stenosis, Wide nasal bridge, High, narrow palate, Broad nasal tip, Ureteral stenosis...	OMIM:272950
Neurooculocardiogenitourinary Syndrome	Downturned corners of mouth, Bilateral cryptorchidism, Prominent nasal bridge, Patent foramen ova...	OMIM:618652
Microphthalmia, Lenz Type	Abnormality of the dentition, Hydroureter, Delayed eruption of teeth, Camptodactyly of finger, Ab...	ORPHA:568
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Yuan-Harel-Lupski Syndrome	Aortic root aneurysm, Long philtrum, Ventricular septal defect, Thin upper lip vermilion, Bicuspi...	OMIM:616652
Tarp Syndrome	Wide nasal bridge, Meckel diverticulum, Subdural hemorrhage, Tetralogy of Fallot, Horseshoe kidne...	OMIM:311900
Donnai-Barrow Syndrome	Depressed nasal bridge, Abnormality of the uterus, Intestinal malrotation, Congenital diaphragmat...	ORPHA:2143
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Short distal phalanx of...	ORPHA:1248
Foxp1 Syndrome	Recurrent upper respiratory tract infections, Broad nasal tip, Downturned corners of mouth, Retro...	ORPHA:391372
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Carious teeth, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Anteverted nares, Cryptorc...	ORPHA:2701
Opitz Gbbb Syndrome	Aortic root aneurysm, Natal tooth, Ankyloglossia, Micrognathia, Cryptorchidism, Congenital diaphr...	ORPHA:2745
Zechi-Ceide Syndrome	Wide nasal bridge, Short distal phalanx of finger, Cleft lip, Downturned corners of mouth, Abnorm...	ORPHA:217017
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy, Left ventricular hypertrophy	OMIM:613838
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Dilated cardiomyopathy, Ketonuria, Left ventricular noncompaction, Patent foramen ovale, Left ven...	OMIM:619167
X-Linked Intellectual Disability, Nascimento Type	Depressed nasal bridge, Peripheral pulmonary artery stenosis, Downturned corners of mouth, Underd...	ORPHA:163956
Holt-Oram Syndrome	Hypoplastic scapulae, Short forearm, Cleft soft palate, Micrognathia, Mitral valve prolapse, Vent...	OMIM:142900
Autosomal Recessive Robinow Syndrome	Multicystic kidney dysplasia, Open bite, Ankyloglossia, Micrognathia, Cryptorchidism, Ventricular...	ORPHA:1507
Temple-Baraitser Syndrome	Depressed nasal bridge, Short distal phalanx of finger, Downturned corners of mouth, Long philtru...	OMIM:611816
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Nabais Sa-De Vries Syndrome, Type 2	Hypoplastic left heart, Depressed nasal bridge, Multicystic kidney dysplasia, Bulbous nose, Promi...	OMIM:618829
Laubry-Pezzi Syndrome	Abnormal coronary artery morphology, Patent foramen ovale, Ventricular septal defect, Aortic valv...	ORPHA:99094
Hypotonia, Infantile, With Psychomotor Retardation	Increased variability in muscle fiber diameter, Open mouth, Cryptorchidism, Myopathy, Ventricular...	OMIM:616816
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Depressed nasal bridge, Renal hypoplasia, Renal agenesis, Long philtrum, Anteverted nares, Short ...	ORPHA:171839
Ciliary Dyskinesia, Primary, 52	Hypoplastic left heart, Total anomalous pulmonary venous return, Mitral atresia, Situs inversus t...	OMIM:620570
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Broad nasal tip, Retrognathia, Open mouth, Malar flattening, Enuresis, Short nose	OMIM:613670
Combined Oxidative Phosphorylation Defect Type 23	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Right ventricular hypertrophy	ORPHA:444013
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Dysphagia, Atelectasis, Pulmonary fibrosis	ORPHA:254361
Microcephaly-Cardiomyopathy Syndrome	High, narrow palate, Dilated cardiomyopathy, Ventricular septal defect	ORPHA:2515
Rhizomelic Limb Shortening With Dysmorphic Features	Wide nasal bridge, Short 5th finger, Rhizomelia, Short thumb, Long philtrum, Stage 1 chronic kidn...	OMIM:618821
Intellectual Developmental Disorder, Autosomal Dominant 73	Ankyloglossia, Cleft soft palate, Cryptorchidism, Everted lower lip vermilion, Long nose, High pa...	OMIM:620450
Intellectual Developmental Disorder, Autosomal Recessive 71	Unilateral renal agenesis, Cryptorchidism, Increased overbite, Ventricular septal defect, Micropenis	OMIM:618504
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Xerostomia, Ureterocele, Cryptorchidism, Absence of Stensen duct, Duplicated colle...	OMIM:129900
Pontocerebellar Hypoplasia, Type 4	Dysphagia, Respiratory failure, Death in infancy	OMIM:225753
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration, Microcephaly, Cerebral calcification	ORPHA:1980
Autosomal Dominant Omodysplasia	Depressed nasal bridge, Rhizomelia, Short 1st metacarpal, Bifid scrotum, Long philtrum, Micrognat...	ORPHA:93328
Trisomy X	Precocious puberty, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Ventricular septal de...	ORPHA:3375
Zellweger Syndrome	Wide nasal bridge, Depressed nasal bridge, Multicystic kidney dysplasia, Clitoral hypertrophy, Mi...	ORPHA:912
Lowry-Maclean Syndrome	High, narrow palate, Choanal atresia, Talon cusp, Pyloric stenosis, Hypoplasia of the maxilla, Do...	ORPHA:2409
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Carious teeth, Natal tooth, Ankyloglossia, Micrognathia, Aplasia of the thymus, Atrial septal def...	OMIM:620186
Penoscrotal Transposition	Penoscrotal transposition, Abnormality of the urethra, Renal agenesis, Cardiomyopathy, Abnormalit...	ORPHA:2842
Lissencephaly 7 With Cerebellar Hypoplasia	Death in infancy, Neonatal death, Agenesis of corpus callosum, Microcephaly, Agyria, Lissencephaly	OMIM:616342
Peroxisome Biogenesis Disorder 5A (Zellweger)	Clitoral hypertrophy, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Splenomegaly, Ventricular...	OMIM:614866
Meacham Syndrome	Aortic valve stenosis, Abnormal vagina morphology, Hydrometrocolpos, Cryptorchidism, Congenital d...	ORPHA:3097
Distal Deletion 15Q	Multicystic kidney dysplasia, Small hand, Micrognathia, Cryptorchidism, Congenital diaphragmatic ...	ORPHA:1596
Baraitser-Winter Syndrome 1	Aortic valve stenosis, Wide nasal bridge, Retrognathia, Long philtrum, Cleft upper lip, Anteverte...	OMIM:243310
Meckel Syndrome, Type 1	Natal tooth, Abnormality of the ureter, Micrognathia, Cryptorchidism, Anal atresia, Polycystic ki...	OMIM:249000
Pituitary Adenoma 1, Multiple Types	Pituitary adenoma, Pituitary prolactin cell adenoma, Increased circulating prolactin concentratio...	OMIM:102200
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
Deafness, Congenital Heart Defects, And Posterior Embryotoxon	Tetralogy of Fallot, Peripheral pulmonary artery stenosis, Ventricular septal defect	OMIM:617992
22Q11.2 Deletion Syndrome	Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial sept...	ORPHA:567
Pierpont Syndrome	Broad nasal tip, Short toe, Widely spaced teeth, Short finger, Thin vermilion border, Cryptorchid...	OMIM:602342
Megalencephaly	Wide nasal bridge, Macroorchidism, Long penis, Atrial septal defect	ORPHA:2477
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebral atrophy, Periventricular heterotopia, Microcephaly, Partial agenesis of the corpus callo...	OMIM:616171
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Depressed nasal bridge, Renal hypoplasia, Long philtrum, Anteverted nares, Ventricular septal def...	ORPHA:75389
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Atrioventricular canal defect, Absent radius, Short humerus, Hydronephrosis, Persistent left supe...	OMIM:314390
Bardet-Biedl Syndrome 16	Renal agenesis, Hypogonadism, External genital hypoplasia, Stage 5 chronic kidney disease, Renal ...	OMIM:615993
Woods Syndrome	Wide nasal bridge, Supernumerary nipple, Ventricular septal defect, Thin vermilion border, Low ha...	OMIM:615236
Right Atrial Isomerism	Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Tetra...	OMIM:208530
Staphylococcal Necrotizing Pneumonia	Pneumonia, Pleural effusion, Addictive alcohol use, Pneumothorax, Acute infectious pneumonia, Res...	ORPHA:36238
Autism Spectrum Disorder Due To Auts2 Deficiency	Wide nasal bridge, Joint contracture of the hand, Congenital contracture, Retrognathia, Abnormal ...	ORPHA:352490
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Depressed nasal bridge, Mandibular prognathia, Unilateral cleft lip, Recurrent urinary tract infe...	OMIM:619103
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Short 5th finger, Postaxial oligodactyly, Malar flattening, Atrial septal defect, Aplasia/Hypopla...	ORPHA:52056
RCAD (renal cysts and diabetes)	Multiple renal cysts	DECIPHER:47
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Ventricular septal defect, Ectopic anus...	ORPHA:2476
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations	Tetralogy of Fallot, Situs inversus totalis, Atrial septal defect	OMIM:601322
Vacterl/Vater Association	Multicystic kidney dysplasia, Aplasia/Hypoplasia of the radius, Abnormality of the urethra, Renal...	ORPHA:887
Meckel Syndrome, Type 11	Polycystic kidney dysplasia	OMIM:615397
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Renal hypoplasia, Microretrognathia, Ureteral agenesis, Bulbous nose, Anteverted nares, Renal cys...	OMIM:236500
16P13.11 Microduplication Syndrome	Tetralogy of Fallot, Ventricular septal defect, Coarctation of aorta, Transposition of the great ...	ORPHA:261243
Niemann-Pick Disease, Type C2	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, M...	OMIM:607625
Atrial Septal Defect 2	Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect, Dextrocardia, Pat...	OMIM:607941
Holoprosencephaly 13, X-Linked	Hypoplastic left heart, Duodenal atresia, Micrognathia, Median cleft palate, Patent foramen ovale...	OMIM:301043
Bronchogenic Cyst	Pneumonia, Pulmonary cyst, Bronchogenic cyst, Atelectasis, Abnormal pleura morphology, Dysphagia	ORPHA:2357
Mosaic Variegated Aneuploidy Syndrome 1	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Atrial septal defect, Hypospadias, Du...	OMIM:257300
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Secundum atrial septal defect, Partial atrioventricular canal defect, Ventricular septal defect, ...	OMIM:620066
Ventricular Septal Defect 3	Atrial septal defect, Ventricular septal defect	OMIM:614432
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Orbital encephalocele, Hypoplasia of the corpus callosum, Agenesis of co...	OMIM:164180
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Wide nasal bridge, Cholelithiasis, Pancreatic hypoplasia, Underdeveloped nasal alae, Retrognathia...	ORPHA:83617
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Lower limb musc...	ORPHA:268
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Pituitary Gigantism	Pituitary prolactin cell adenoma, Increased circulating prolactin concentration, Hypertrophic car...	ORPHA:99725
Li-Ghorbani-Weisz-Hubshman Syndrome	Depressed nasal bridge, Downturned corners of mouth, Prominent nasal bridge, Ventricular septal d...	OMIM:618974
Meckel Syndrome, Type 4	Ventricular septal defect, Renal cyst, Atrial septal defect, Bile duct proliferation, Cleft palate	OMIM:611134
Meckel Syndrome 12	Wide nasal bridge, Bifid uvula, Renal hypoplasia, Arthrogryposis multiplex congenita, Bilateral r...	OMIM:616258
Pyruvate Dehydrogenase E1-Beta Deficiency	Corticospinal tract hypoplasia, Periventricular cysts, Periventricular leukomalacia, Periventricu...	ORPHA:255138
Cardiocranial Syndrome, Pfeiffer Type	Wide nasal bridge, High, narrow palate, Bifid uvula, Small hypothenar eminence, Plantar flexion c...	ORPHA:2872
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Depressed nasal ridge, Abnormality of the ureter, Micrognathia, Narrow mouth, Splenomegaly, Renal...	ORPHA:1046
Fumarase Deficiency	Aminoaciduria, Elevated urine fumaric acid level, Depressed nasal bridge, Anteverted nares, Bilat...	OMIM:606812
Meconium Aspiration Syndrome	Neonatal asphyxia, Pneumothorax, Atelectasis, Aspiration pneumonia	ORPHA:70588
Alg9-Cdg	Hypoplasia of the musculature, Micrognathia, Ventricular septal defect, Atrial septal defect, Tor...	ORPHA:79328
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Microcephaly	ORPHA:2216
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:613869
Potocki-Lupski Syndrome	Mandibular prognathia, Dental malocclusion, Dental crowding, Micrognathia, Patent foramen ovale, ...	OMIM:610883
Microform Holoprosencephaly	Choanal atresia, Renal agenesis, Tetralogy of Fallot, Panhypopituitarism, Narrow nasal bridge, An...	ORPHA:280200
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening, Choanal stenosi...	OMIM:241310
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Long philtrum, Prominent nasal bridge, Gingival overgrowth, Protruding tongue,...	OMIM:619179
Odontochondrodysplasia 1	Dentinogenesis imperfecta, Nephronophthisis, Delayed eruption of teeth, Long philtrum, Micromelia...	OMIM:184260
Orofaciodigital Syndrome Xv	Wide nasal bridge, Midline notch of upper alveolar ridge, Anteverted nares, Hydronephrosis, Lobul...	OMIM:617127
Williams-Beuren Region Duplication Syndrome	Unilateral renal agenesis, Broad nasal tip, Diastema, Decreased response to growth hormone stimul...	OMIM:609757
Orofaciodigital Syndrome Xvii	High, narrow palate, Renal hypoplasia, Retrognathia, Tetralogy of Fallot, Prominent nose, Short m...	OMIM:617926
Hemimegalencephaly	Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Gray matter heterotopia, Hyperinten...	ORPHA:99802
Pleuropulmonary Blastoma	Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma	OMIM:601200
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly, Lissencephaly	OMIM:614833
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Fryns Syndrome	Joint contracture of the hand, Cryptorchidism, Ventricular septal defect, Atrial septal defect, A...	OMIM:229850
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lower limb hypertonia, Dextrotranspos...	OMIM:619995
Noonan Syndrome 10	Hypertrophic cardiomyopathy, Mitral stenosis, Mitral valve prolapse, Ventricular septal defect, C...	OMIM:616564
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Type II lissencephaly, Death in childhood, Agenesis of corpus callosum, Abnormal cerebral white m...	OMIM:613153
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Open mouth, Ventricular septal defect, Everted lower lip vermilion...	OMIM:280000
Bardet-Biedl Syndrome 4	Abnormality of the dentition, Hypogonadism, External genital hypoplasia, Cryptorchidism, Renal cy...	OMIM:615982
Attrv122I Amyloidosis	Aortic valve stenosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Abnormal enteric ...	ORPHA:85451
Cloacal Exstrophy	Hydroureter, Ureterocele, Intestinal duplication, Horseshoe kidney, Intestinal malrotation, Vesic...	ORPHA:93929
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Micrognathia, Bicuspid aortic valve, Atrial septal defect, High palate, Patent ductus arteriosus,...	OMIM:612474
Sarcoidosis, Susceptibility To, 2	Emphysema, Pleural effusion, Pneumothorax, Abnormal pulmonary interstitial morphology, Pulmonary ...	OMIM:612387
Carnitine Palmitoyltransferase Ii Deficiency	Red-brown urine, Cardiomyopathy, Stage 5 chronic kidney disease, Myopathy, Rhabdomyolysis, Hepato...	ORPHA:157
Emanuel Syndrome	Aortic valve stenosis, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular...	OMIM:609029
Trigonocephaly With Short Stature And Developmental Delay	Wide nasal bridge, Ventricular septal defect, Convex nasal ridge, High palate, Broad alveolar ridges	OMIM:314320
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Wide nasal bridge, Peripheral pulmonary artery stenosis, Broad nasal tip, Anal stenosis, Vesicour...	OMIM:614749
Pulmonary Hypertension, Primary, 5	Right ventricular hypertrophy	OMIM:265400
Lissencephaly Syndrome, Norman-Roberts Type	Cerebral calcification, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Abnormali...	ORPHA:89844
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Bifid uvula, Abnormality of the denti...	OMIM:300968
16P12.1P12.3 Triplication Syndrome	High, narrow palate, Short 5th finger, Retrognathia, Long philtrum, Bilateral cryptorchidism, Abn...	ORPHA:485405
Intellectual Developmental Disorder, Autosomal Dominant 21	Long philtrum, Narrow mouth, Cryptorchidism, Coarctation of aorta, Atrial septal defect, Thin ver...	OMIM:615502
Coenzyme Q10 Deficiency, Primary, 5	Decreased level of coenzyme Q10 in skeletal muscle, Left ventricular hypertrophy	OMIM:614654
Cerebellar-Facial-Dental Syndrome	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Dental malocclusion, Foot ...	ORPHA:444072
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger...	ORPHA:776
Chromosome 22Q11.2 Deletion Syndrome, Distal	Underdeveloped nasal alae, Malar flattening, Truncus arteriosus, Thin upper lip vermilion, Smooth...	OMIM:611867
Mosaic Trisomy 14	Wide nasal bridge, Camptodactyly of finger, Anteverted nares, Prominent nasal bridge, Wide mouth,...	ORPHA:1703
Seizures-Scoliosis-Macrocephaly Syndrome	Long philtrum, Bulbous nose, Cryptorchidism, Atrial septal defect, Abnormality of the kidney	ORPHA:466926
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Wide nasal bridge, Unilateral renal agenesis, Broad nasal tip, Hydroureter, Bilateral renal agene...	OMIM:619194
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Decreased numbers of nephrons, Cryptorchidism, Congenital diaphragmatic hernia, Ectopic kidney, R...	OMIM:617641
Primary Ciliary Dyskinesia	Nasal polyposis, Atrial situs ambiguous, Abnormal heart morphology, Abnormal atrial arrangement, ...	ORPHA:244
Duane-Radial Ray Syndrome	Ventricular septal defect, Aplasia of metacarpal bones, Atrial septal defect, Small thenar eminen...	OMIM:607323
Paraneoplastic Pemphigus	Thymoma, B-cell lymphoma, Sarcoma	ORPHA:63455
Tonne-Kalscheuer Syndrome	Wide nasal bridge, Velopharyngeal insufficiency, Downturned corners of mouth, Widely spaced teeth...	OMIM:300978
Distal Duplication 18Q	Choanal atresia, Carious teeth, Camptodactyly of finger, Abnormal female external genitalia morph...	ORPHA:1716
Gabriele-De Vries Syndrome	Aortopulmonary collateral arteries, Abnormality of the dentition, Broad nasal tip, Thick lower li...	OMIM:617557
Otopalatodigital Syndrome Type 2	Fibular aplasia, Micrognathia, Narrow mouth, Anodontia, Short hallux, Hypospadias, Short nose, Pi...	ORPHA:90652
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Aggressive behavior, Abnormal fear-induced behavior, Pseudobulbar paralysis	ORPHA:208441
Infantile Osteopetrosis With Neuroaxonal Dysplasia	Partial agenesis of the corpus callosum, Cerebral atrophy, Agenesis of corpus callosum	ORPHA:85179
Halperin-Birk Syndrome	Micrognathia, Congenital diaphragmatic hernia, High palate, Perimembranous ventricular septal def...	OMIM:618651
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Wide nasal bridge, Depressed nasal bridge, Dental crowding, Retrognathia, Long philtrum, Bulbous ...	OMIM:617061
Mogs-Cdg	Retrognathia, External genital hypoplasia, Hepatosplenomegaly, Cardiomegaly, Left ventricular hyp...	ORPHA:79330
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Broad-based gait, Shuffling gait, Abnormal fear-induced behavior, Irritability, Aggressive behavi...	ORPHA:3077
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Familial Hyperaldosteronism Type Iii	Epistaxis, Adrenal hyperplasia, Left ventricular hypertrophy, Hypercalciuria, Intracranial hemorr...	ORPHA:251274
Ciliary Dyskinesia, Primary, 28	Neonatal respiratory distress, Dynein arm defect of respiratory motile cilia, Recurrent sinusitis...	OMIM:615505
Hereditary Butyrylcholinesterase Deficiency	Respiratory failure, Respiratory failure requiring assisted ventilation	ORPHA:132
Cranioectodermal Dysplasia 2	Micrognathia, Atrial septal defect, Everted lower lip vermilion, Hepatomegaly, High palate, Bile ...	OMIM:613610
Hydrocephalus, Congenital, X-Linked	Corticospinal tract hypoplasia, Absent septum pellucidum, Agenesis of corpus callosum, Hydrocepha...	OMIM:307000
Fetal Alcohol Syndrome	Anteverted nares, Micrognathia, Congenital diaphragmatic hernia, Microdontia, Thin upper lip verm...	ORPHA:1915
Koolen-De Vries Syndrome	Aortic root aneurysm, Pear-shaped nose, Cryptorchidism, Open mouth, Ventricular septal defect, Bi...	OMIM:610443
Vici Syndrome	Depressed nasal bridge, Dilated cardiomyopathy, Everted upper lip vermilion, Cardiomyopathy, Long...	OMIM:242840
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Hypoplastic left heart, Micromelia, Cryptorchidism, Ventricular septal defect, Ambiguous genitali...	ORPHA:2772
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome	Tetralogy of Fallot, Cryptorchidism, Abnormal palate morphology, Anal atresia, Hypoplasia of peni...	ORPHA:1381
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction	Pulmonary artery atresia, Left superior vena cava draining directly to the left atrium, Ventricul...	OMIM:613759
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Myocardial fibrosis	OMIM:613873
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Dysphagia, Respiratory failure	OMIM:618637
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Wide nasal bridge, Broad secondary alveolar ridge, Ventricular septal defect, Convex nasal ridge,...	ORPHA:3369
Surfactant Metabolism Dysfunction, Pulmonary, 5	Respiratory insufficiency, Intraalveolar phospholipid accumulation, Interlobular septal thickening	OMIM:614370
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Rhizomelia, Downturned corners of mouth, Micrognathia, Ventricular septal defe...	ORPHA:93267
Kleefstra Syndrome Due To 9Q34 Microdeletion	Aortic valve stenosis, Downturned corners of mouth, Tetralogy of Fallot, Anteverted nares, Conotr...	ORPHA:96147
15q26 overgrowth syndrome	Wide nasal bridge, Mandibular prognathia, Duplication of renal pelvis, Renal agenesis, Long philt...	DECIPHER:81
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Multiple small medullary renal cysts, Hyperechogenic kidneys, Renal insufficiency, Hepatic cysts,...	OMIM:263200
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Short 5th finger, Acromesomelia, Abnormal heart morphology, Anteverted nares, Prominent nasal bri...	ORPHA:500159
Ciliary Dyskinesia, Primary, 42	Pneumonia, Nasal polyposis, Respiratory insufficiency, Recurrent sinusitis, Bronchiectasis	OMIM:618695
Gaba-Transaminase Deficiency	Death in childhood, Agenesis of corpus callosum	OMIM:613163
Diamond-Blackfan Anemia 21	Short toe, Micrognathia, Secundum atrial septal defect, Narrow mouth	OMIM:620072
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Wide nasal bridge, Nephrocalcinosis, Thick lower lip vermilion, Thick upper lip vermilion, Open m...	OMIM:611087
Fetal Encasement Syndrome	Upper limb undergrowth, Tetralogy of Fallot, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihydr...	OMIM:613630
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration, Microcephaly, Cerebral calcification	ORPHA:1314
Cardiomyopathy, Dilated, 1S	Pulmonary artery hypoplasia, Dilated cardiomyopathy, Left ventricular noncompaction, Interstitial...	OMIM:613426
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Renal dysplasia, Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Fibular hypoplasia...	OMIM:613091
Noonan Syndrome 11	Depressed nasal bridge, Hypertrophic cardiomyopathy, Bulbous nose, Atrial septal defect, Thick ve...	OMIM:618499
Apparent Mineralocorticoid Excess	Nephrocalcinosis, Renal insufficiency, Stroke, Left ventricular hypertrophy, Abnormal urine sodiu...	ORPHA:320
Fabry Disease	Lipiduria, Transient ischemic attack, Renal insufficiency, Proteinuria, Ventricular septal hypert...	OMIM:301500
Chromosome 19Q13.11 Deletion Syndrome, Distal	Wide nasal bridge, Carious teeth, Retrognathia, Bifid scrotum, Underdeveloped nasal alae, Antever...	OMIM:613026
Hepatorenocardiac Degenerative Fibrosis	Hyperechogenic kidneys, Hypertrophic cardiomyopathy, Hepatosplenomegaly, Reduced renal corticomed...	OMIM:619902
Toluene Embryopathy	Hypoplasia of the zygomatic bone, Micrognathia, Cryptorchidism, Hydronephrosis, Smooth philtrum, ...	ORPHA:1920
Idiopathic Pulmonary Hemosiderosis	Reticular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Nodular pattern on pulmonary HR...	ORPHA:99931
Caudal Regression Syndrome	Renal agenesis, Decreased muscle mass, Aplasia/Hypoplasia of the sacrum, Abnormality of the urete...	ORPHA:3027
Craniofacial Dyssynostosis With Short Stature	Horseshoe kidney, Cryptorchidism, Malar flattening, Ventricular septal defect, Hypospadias, Paten...	OMIM:218350
Cockayne Syndrome Type 3	Vascular calcification, Unilateral renal agenesis, Renal hypoplasia, Carious teeth, Aortic root a...	ORPHA:90324
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal oral mucosa morphology, Multicystic kidney dysplasia, Dilated cardiomyopathy, Hydrourete...	ORPHA:79404
Synaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Triang...	ORPHA:98915
Transaldolase Deficiency	Biventricular hypertrophy, Hepatosplenomegaly, Coarctation of aorta, Atrial septal defect, Abnorm...	ORPHA:101028
X-Linked Lissencephaly With Abnormal Genitalia	Micrognathia, Cryptorchidism, Ventricular septal defect, Aganglionic megacolon, Ambiguous genital...	ORPHA:452
Arthrogryposis, Perthes Disease, And Upward Gaze Palsy	Ventricular septal defect, Atrial septal defect, Camptodactyly, Arthrogryposis multiplex congenit...	OMIM:614262
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Microdontia, Thin upper lip v...	OMIM:619736
Humero-Radio-Ulnar Synostosis	Abnormality of the ureter, Aplasia/Hypoplasia of the thumb, Abnormality of the upper urinary tract	ORPHA:3266
Viss Syndrome	Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Cleft soft palate, Micro...	OMIM:619472
Renal Dysplasia, Cystic, Susceptibility To	Hyperechogenic kidneys, Vesicoureteral reflux, Renal insufficiency, Renal dysplasia, Cystic renal...	OMIM:601331
Takenouchi-Kosaki Syndrome	Flared nostrils, Unilateral renal agenesis, Wide nasal bridge, Dental malocclusion, Downturned co...	OMIM:616737
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Atrial...	ORPHA:216694
Diamond-Blackfan Anemia 16	Atrial septal defect, Pulmonic stenosis	OMIM:617408
Atrial Septal Defect 4	Coarctation of aorta, Atrial septal defect, Patent foramen ovale	OMIM:611363
Congenital Anomalies Of Kidney And Urinary Tract 3	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Hydronephrosis, Ectopic ki...	OMIM:618270
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micrognathia, Cryptorchidism, Hip contracture, Ventricular septal defect, Atrial septal defect, S...	OMIM:210710
Mandibulofacial Dysostosis, Guion-Almeida Type	Choanal atresia, Anteverted nares, Micrognathia, Malar flattening, Ventricular septal defect, Dee...	OMIM:610536
Aortic Aneurysm, Familial Thoracic 10	Aortic root aneurysm, Dental crowding, Aortic arch aneurysm, Abdominal aortic aneurysm, Coronary ...	OMIM:617168
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma	OMIM:613736
White-Kernohan Syndrome	Depressed nasal bridge, Hydroureter, Retrognathia, Underdeveloped nasal alae, Anteriorly placed a...	OMIM:619426
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Cholelithiasis, Mandibular prognathia, Retrognathia, Male urethral meatus st...	ORPHA:464738
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Narrow mouth...	ORPHA:261295
Carey-Fineman-Ziter Syndrome	Aplasia of the pectoralis major muscle, Skeletal muscle atrophy, Long philtrum, Aplasia/Hypoplasi...	ORPHA:1358
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal corpus callosum morphology, Cerebral atrophy, Periventricular cysts, Abnormal basal gang...	ORPHA:255182
Kapur-Toriello Syndrome	Joint contracture of the hand, Abnormality of the urinary system, Short thumb, Cleft upper lip, C...	OMIM:244300
Cardiac-Valvular Ehlers-Danlos Syndrome	Aortic root aneurysm, Dental crowding, Abnormal heart valve morphology, Bulbous nose, Mitral valv...	ORPHA:230851
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cryptorchidism, Patent foramen ovale, Hydronephrosis, Limb hypertonia, Atrial septal defect, Limb...	OMIM:620327
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Wide nasal bridge, Bifid uvula, Downturned corners of mouth, Underdeveloped nasal alae, Abnormal ...	ORPHA:453499
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion	Abnormality of the dentition, Long philtrum, Prominent nasal bridge, Ventricular septal defect, S...	ORPHA:261190
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Respiratory insufficiency	OMIM:618328
Tetraploidy	Micrognathia, Renal hypoplasia/aplasia, Hydronephrosis, Convex nasal ridge, Short philtrum, Cleft...	ORPHA:3305
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Cleft lip, Microretrognathia, Downturned corners of mouth, Long philtrum, Abno...	OMIM:618571
C1Q Deficiency 2	Recurrent lower respiratory tract infections, Bronchiectasis, Atelectasis	OMIM:620321
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Abnormality of the dentition, Joint contracture of the hand, Decreased re...	ORPHA:363528
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Broad columella, Underdeveloped nasal alae, Horseshoe kidney, Micrognathia, Cryptorchidism, Ventr...	ORPHA:166035
Congenital Heart Defects, Multiple Types, 2	Aortic valve stenosis, Myxomatous mitral valve degeneration, Tetralogy of Fallot, Ventricular sep...	OMIM:614980
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hepatosplenomegaly, Cleft soft palate, Narrow mouth, Cryptorchidism, Hip contracture, Ventricular...	OMIM:619503
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Scedosporiosis	Pneumonia, Bronchitis, Pulmonary fibrosis, Pleuritis, Respiratory failure, Pleural empyema	ORPHA:449280
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Depressed nasal bridge, Broad nasal tip, Ventricular septal defect, Thin upper lip vermilion, Ove...	OMIM:601927
Neurofibromatosis-Noonan Syndrome	Depressed nasal bridge, Secundum atrial septal defect, Cryptorchidism, Malar flattening, Thick ve...	OMIM:601321
Cardiomyopathy, Familial Hypertrophic, 11	Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Atrial septal defect, Subaortic ventri...	OMIM:612098
Bardet-Biedl Syndrome 12	Hydroureter, Hydrometrocolpos, Hypogonadism, Hydronephrosis, Vaginal atresia, Cystic renal dysplasia	OMIM:615989
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Wide nasal bridge, Depressed nasal bridge, Absent nipple, Ureteral triplication, Mitral valve pro...	OMIM:104350
Transketolase Deficiency	Increased level of ribose in urine, Abnormal heart morphology, Patent foramen ovale, Ventricular ...	ORPHA:488618
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma	ORPHA:409
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Small scrotum, Underdeveloped nasal alae, Camptodactyly of finger, Prominent nasal bridge, Microg...	ORPHA:2083
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Microglossia, Micromelia, Renal dysplasia, Micrognathia, Short ribs, Medi...	OMIM:241800
Combined Oxidative Phosphorylation Deficiency 33	Cardiomyopathy, Myopathy, Cardiomegaly, Left ventricular hypertrophy, Hepatomegaly, Nephrotic syn...	OMIM:617713
Tangier Disease	Distal amyotrophy, Atherosclerosis, Facial diplegia, Splenomegaly, Coronary artery atherosclerosi...	OMIM:205400
Chime Syndrome	Depressed nasal ridge, Abnormality of the dentition, Aplasia/Hypoplasia of the phalanges of the t...	ORPHA:3474
Hypophosphatasia	Emphysema, Respiratory insufficiency	ORPHA:436
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, Nephrocalcinosis, Retrognathia, Limb undergrowth, Atrial septal defect, Joint ...	OMIM:618005
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Long philtrum, Mitral valve prolapse, Short nose, Cleft palate	ORPHA:90653
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Short distal phalanx of finger, Mandibular prognathia, Broad nasal tip, Downtu...	OMIM:239300
Char Syndrome	Depressed nasal ridge, Depressed nasal bridge, Supernumerary nipple, Agenesis of permanent teeth,...	ORPHA:46627
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Downturned corners of mouth, Long philtru...	ORPHA:404440
Pentalogy Of Cantrell	Aplasia/Hypoplasia of the radius, Renal agenesis, Non-midline cleft of the upper lip, Tetralogy o...	ORPHA:1335
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Mitochondrial Complex I Deficiency, Nuclear Type 35	Neonatal death, Neonatal respiratory distress, Pulmonary hypoplasia	OMIM:619003
Lymphatic Malformation 12	Neonatal respiratory distress, Neonatal death, Death in adolescence, Pleural thickening, Recurren...	OMIM:620014
Structural Heart Defects And Renal Anomalies Syndrome	Interrupted aortic arch, Tetralogy of Fallot, Right aortic arch, Renal insufficiency, Truncus art...	OMIM:617478
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Depressed nasal bridge, Rhizomelia, Microretrognathia, Aortic root aneurysm, Long philtrum, Elbow...	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	Tooth malposition, Craniofacial hyperostosis, Short distal phalanx of finger, Delayed eruption of...	ORPHA:2484
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Death in childhood, Death in infancy, Pulmonary hypoplasia	OMIM:614096
Severe X-Linked Intellectual Disability, Gustavson Type	Recurrent upper respiratory tract infections, Contractures of the large joints, Micrognathia, Ves...	ORPHA:3078
Leukemia, Acute, X-Linked	Acute leukemia	OMIM:308960
Developmental And Epileptic Encephalopathy 66	Wide nasal bridge, Macrodontia of permanent maxillary central incisor, Downturned corners of mout...	OMIM:618067
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1	Intestinal malrotation, Hydroureter, Fetal megacystis	OMIM:249210
Methimazole Embryofetopathy	Choanal atresia, Abnormal aortic morphology, Ventricular septal defect, Coarctation of aorta, Tra...	ORPHA:1923
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Prominent nasal bri...	OMIM:309520
Khan-Khan-Katsanis Syndrome	Renal hypoplasia, Micrognathia, Vesicoureteral reflux, Tented upper lip vermilion, Patent foramen...	OMIM:618460
Musculocontractural Ehlers-Danlos Syndrome	Malrotation of small bowel, Cleft lip, Functional abnormality of the bladder, Arthrogryposis mult...	ORPHA:2953
Acrorenal-Mandibular Syndrome	Narrow palate, Hypoplastic scapulae, Absent nipple, Uterus didelphys, Renal agenesis, Aplasia of ...	OMIM:200980
3P25.3 Microdeletion Syndrome	Micrognathia, Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, High, na...	ORPHA:435638
Adams-Oliver Syndrome 6	Renal hypoplasia, Foot oligodactyly, Splenomegaly, Truncus arteriosus, Ventricular septal defect,...	OMIM:616589
Encephalocraniocutaneous Lipomatosis	Peripheral pulmonary artery stenosis, Cryptorchidism, Ventricular septal defect, Hydronephrosis, ...	OMIM:613001
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Depressed nasal bridge, Downturned corners of mouth, Cardiomyopathy, Anteriorly placed anus, Ante...	OMIM:217980
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Depressed nasal bridge, Natal tooth, Micrognathia, Ventricular septal defect, Hematuria, Proteinu...	OMIM:616901
Diphallia	Penoscrotal transposition, Renal malrotation, Absent thumb, Bifid scrotum, Duplicated colon, Abno...	ORPHA:227
Multiple Endocrine Neoplasia, Type Iv	Pituitary adenoma, Renal angiomyolipoma, Carcinoid tumor, Parathyroid adenoma, Pancreatic endocri...	OMIM:610755
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Thick lower lip vermilion, Widely spaced teeth, Cryptorchidism, Hydron...	OMIM:619797
Joubert Syndrome 39	Hypoplastic left heart, Polycystic kidney dysplasia, Joint contracture of the 5th finger	OMIM:619562
Polyvalvular Heart Disease Syndrome	Aortic valve stenosis, Dental crowding, Abnormal heart valve morphology, Prominent nose, Microgna...	ORPHA:228410
Nephronophthisis 20	Nephronophthisis, Stage 5 chronic kidney disease, Vesicoureteral reflux, Renal insufficiency, Ren...	OMIM:617271
Tarp Syndrome	Wide nasal bridge, Hypoplasia of proximal radius, Tetralogy of Fallot, Horseshoe kidney, Antevert...	ORPHA:2886
Meacham Syndrome	Ventricular septal defect, Bicuspid aortic valve, Male pseudohermaphroditism, Atrial septal defec...	OMIM:608978
Frontoocular Syndrome	Prominent nasal bridge, Narrow mouth, Micrognathia, Narrow philtrum, Atrial septal defect, High p...	OMIM:605321
Bladder Exstrophy And Epispadias Complex	Unilateral renal agenesis, Hydroureter, Anteriorly placed anus, Horseshoe kidney, Bifid clitoris,...	OMIM:600057
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Hamartoma of tongue, Complete atrioventricular canal defect, Coarctation of aorta, Orofacial clef...	OMIM:217085
Congenital Myopathy 10A, Severe Variant	Dysphagia, Respiratory failure, Respiratory insufficiency	OMIM:614399
Al-Raqad Syndrome	Thin upper lip vermilion, Narrow mouth, Atrial septal defect, Short nose	OMIM:616459
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Micrognathia, Malar flattening, Atrial septal defect, Short nose, Clef...	ORPHA:79113
Mandibuloacral Dysplasia Progeroid Syndrome	Focal segmental glomerulosclerosis, Depressed nasal bridge, Underdeveloped nasal alae, Long philt...	OMIM:619127
Sifrim-Hitz-Weiss Syndrome	Bifid uvula, Anteriorly placed anus, Tetralogy of Fallot, Renal insufficiency, Vesicoureteral ref...	OMIM:617159
Mitochondrial Myopathy And Sideroblastic Anemia	Long philtrum, Generalized limb muscle atrophy, Micrognathia, Myopathy, High palate, Short nose	ORPHA:2598
ERI1-related disease	Depressed nasal bridge, Velopharyngeal insufficiency, Abnormal heart morphology, Micrognathia, Ve...	OMIM:608739
Acrocephalopolydactyly	Depressed nasal ridge, Hepatosplenomegaly, Abnormal renal morphology, Limb undergrowth, Short nose	ORPHA:221054
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Short distal phalanx of finger, Broad columella, Underdeveloped nasal alae, Horseshoe kidney, Mic...	OMIM:250410
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Abnormal morphology of female internal genitalia, ...	ORPHA:1790
Peroxisome Biogenesis Disorder 6A (Zellweger)	Wide nasal bridge, Renal cyst, Hepatomegaly	OMIM:614870
Specc1L-Related Hypertelorism Syndrome	Wide nasal bridge, Short toe, Long philtrum, Tetralogy of Fallot, Prominent nasal bridge, Female ...	ORPHA:1519
Complete Atrioventricular Septal Defect	Primum atrial septal defect, Displacement of the papillary muscles, Abnormal cardiac atrium morph...	ORPHA:1329
Ohdo Syndrome	Wide nasal bridge, Small scrotum, Depressed nasal bridge, Long philtrum, Widely spaced teeth, Ant...	OMIM:249620
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Abnormality of the dentition, Mesomelia, Broad nasal tip, Long philtrum, Antev...	OMIM:618529
Nephronophthisis 2	Respiratory insufficiency, Respiratory failure, Pulmonary hypoplasia	OMIM:602088
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Depressed nasal bridge, Broad nasal tip, Cleft lip, Decreased response to growth hormone stimulat...	OMIM:618223
Joubert Syndrome 30	Gray matter heterotopia, Polymicrogyria, Agenesis of corpus callosum	OMIM:617622
Coffin-Siris Syndrome 5	Depressed nasal bridge, Short distal phalanx of finger, Thick lower lip vermilion, Thick nasal al...	OMIM:616938
Tyshchenko Syndrome	High, narrow palate, Narrow palate, Supernumerary nipple, Cryptorchidism, Ventricular septal defe...	OMIM:615102
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Mitral valve prolapse, Ventricular septal defect, Polycystic ovaries, Bicuspid aortic valve, Coar...	ORPHA:371428
17P13.3 Microduplication Syndrome	Narrow mouth, High palate, Hypoplasia of penis, Short nose, Wide nose	ORPHA:217385
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration, Congenital intracerebral calcification, Microcephaly	OMIM:236795
Mucolipidosis Iv	Dysplastic corpus callosum, Microcephaly, Cerebral dysmyelination	OMIM:252650
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Interrupted aortic arch, Choanal atresia, Short 5th finger, Underdeveloped nasal alae, Overhangin...	ORPHA:163979
Mosaic Trisomy 1	Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Thick lower lip vermilion, Camptoda...	ORPHA:1692
Oeis Complex	Absent scrotum, Cryptorchidism, Micropenis, Duplicated collecting system, Anal atresia, Rectovagi...	OMIM:258040
Amyloidosis, Finnish Type	Cardiomyopathy, Urolithiasis, Stage 5 chronic kidney disease, Renal insufficiency, Nephrotic synd...	OMIM:105120
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Small hand, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, High palate, S...	ORPHA:251028
Joubert Syndrome 37	Wide nasal bridge, Decreased testicular size, Anteverted nares, Cryptorchidism, Hydronephrosis, H...	OMIM:619185
Coffin-Siris Syndrome 6	High, narrow palate, Depressed nasal bridge, Broad nasal tip, Retrognathia, Micrognathia, Deep ph...	OMIM:617808
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Dental crowding, Long philtrum, Narrow mouth, Facial hypotonia, Patent foramen ovale, Mitral valv...	OMIM:615539
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Dilatation of the renal pelvis, Hepatosplenomegaly, Micrognathia, Fibular aplasia,...	OMIM:274000
Kabuki Syndrome	Small hand, Cryptorchidism, Congenital diaphragmatic hernia, Renal hypoplasia/aplasia, Duplicated...	ORPHA:2322
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Minicore myopathy, Broad nasal tip, Bilateral cryptor...	OMIM:619542
Faciocardiorenal Syndrome	Wide nasal bridge, Underdeveloped nasal alae, Horseshoe kidney, Endocardial fibroelastosis, Narro...	ORPHA:1973
Trisomy 8P	Cryptorchidism, Dysplastic aortic valve, Short nose, Annular pancreas, Short 1st metacarpal, Tetr...	ORPHA:264450
Opitz Gbbb Syndrome	Wide nasal bridge, Unilateral cleft lip, Cleft upper lip, Rectourethral fistula, Anteverted nares...	OMIM:300000
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Agenesis of corpus callosum	ORPHA:459074
Interatrial Communication	Right ventricular dilatation, Secundum atrial septal defect, Stroke, Cardiomegaly, Sinus venosus ...	ORPHA:1478
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Retrognathia, Hypertrophic cardiomyopathy, Anteverted nares, Cryptorchidism, Protrud...	OMIM:612938
Congenital Disorder Of Glycosylation, Type It	Bifid uvula, Dilated cardiomyopathy, Micrognathia, Rhabdomyolysis, Ventricular septal defect, Car...	OMIM:614921
Rhiny	Thin vermilion border, Anteverted nares, Short nose	OMIM:180360
Thiamine-Responsive Megaloblastic Anemia Syndrome	Aminoaciduria, Cardiomyopathy, Situs inversus totalis, Cryptorchidism, Ventricular septal defect,...	OMIM:249270
Adenylosuccinate Lyase Deficiency	Long philtrum, Anteverted nares, Thin upper lip vermilion, Smooth philtrum, Short nose	ORPHA:46
Roberts-Sc Phocomelia Syndrome	Clitoral hypertrophy, Hyperplasia of the maxilla, Narrow naris, Enlarged labia minora, Micrognath...	OMIM:268300
Kapur-Toriello Syndrome	Tetralogy of Fallot, Bulbous nose, Intestinal malrotation, Ventricular septal defect, Hypoplastic...	ORPHA:2328
Acitretin/Etretinate Embryopathy	Hypoplastic nasal septum, Atrioventricular canal defect, Anteverted nares, Micrognathia, Conotrun...	ORPHA:40366
Atelis Syndrome 1	Carious teeth, Long philtrum, Prominent nose, Ventricular septal defect, Atrial septal defect, Hi...	OMIM:620184
Diprosopus	Cleft palate, Abnormality of the nose, Abnormal cardiac septum morphology, Non-midline cleft of t...	ORPHA:1681
Chand Syndrome	Short fifth metatarsal, Depressed nasal bridge, Imperforate hymen, Hydroureter, Agenesis of perma...	ORPHA:1401
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia	Recurrent urinary tract infections, Splenomegaly, Ventricular septal defect, Coarctation of aorta...	OMIM:620210
Frontonasal Dysplasia 1	Wide nasal bridge, Bifid nasal tip, Joint contracture of the hand, Broad nasal tip, Hypoplasia of...	OMIM:136760
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Finger aplasia, Velopharyngeal insufficiency, Hypoplasia of the zygomatic bone, Micrognathia, Ves...	OMIM:620663
1Q21.1 Microdeletion Syndrome	Interrupted aortic arch, Wide nasal bridge, Long philtrum, Bulbous nose, Ankyloglossia, Vesicoure...	ORPHA:250989
Chiari Malformation Type Ii	Cervical myelopathy, Myelomeningocele, Agenesis of corpus callosum, Hydrocephalus, Spina bifida, ...	OMIM:207950
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Cleft upper lip, Foot oligodactyly, Amelia, Bilateral cleft palate, Ventricular se...	OMIM:601357
Chops Syndrome	High, narrow palate, Downturned corners of mouth, Long philtrum, Horseshoe kidney, Anteverted nar...	OMIM:616368
Potocki-Shaffer Syndrome	Wide nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Micropenis, Short phil...	OMIM:601224
Pyruvate Dehydrogenase E1-Beta Deficiency	Agenesis of corpus callosum	OMIM:614111
Fadd-Related Immunodeficiency	Pulmonary artery atresia, Ventricular septal defect	ORPHA:306550
Bardet-Biedl Syndrome 2	Dilated cardiomyopathy, Hypogonadism, External genital hypoplasia, Bicuspid aortic valve, Atrial ...	OMIM:615981
Chromosome 5Q12 Deletion Syndrome	Long philtrum, Prominent nose, Micrognathia, Patent foramen ovale, Ventricular septal defect, Atr...	OMIM:615668
Coenzyme Q10 Deficiency, Primary, 7	Hypoplastic left heart, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Ventricular septal...	OMIM:616276
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal insufficiency, Hepati...	OMIM:618061
Microcephaly 3, Primary, Autosomal Recessive	Small cerebral cortex, Microcephaly, Primary microcephaly, Partial agenesis of the corpus callosu...	OMIM:604804
Cerebrocostomandibular Syndrome	Carious teeth, Cleft soft palate, Micrognathia, Ventricular septal defect, Short hard palate, Atr...	OMIM:117650
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Polycystic kidney dysplasia, Hepatic cysts	OMIM:600666
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypomimic face	ORPHA:93952
Emanuel Syndrome	Aortic valve stenosis, Tooth malposition, Micrognathia, Cryptorchidism, Congenital diaphragmatic ...	ORPHA:96170
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Bifid nasal tip, Downturned corners of mouth, Underdeveloped ...	ORPHA:521308
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Micromelia, Hyperechogenic kidneys, Intestinal malrotation, Micrognathia, Short ribs, Thin upper ...	OMIM:617866
Joubert Syndrome 14	Prominent nasal bridge, Open mouth, Tented upper lip vermilion, Malar flattening, Ventricular sep...	OMIM:614424
Chromosome 17Q12 Deletion Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Ovarian cyst, High palate, Short foot...	OMIM:614527
Adult Acute Respiratory Distress Syndrome	Pneumonia, Pulmonary edema, Respiratory failure	ORPHA:70578
Multiple Acyl-Coa Dehydrogenase Deficiency	Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Depressed nasal bridge, Glyco...	OMIM:231680
Familial Congenital Mirror Movements	Abnormal corticospinal tract morphology, Agenesis of corpus callosum	ORPHA:238722
Congenital Arthrogryposis With Anterior Horn Cell Disease	Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:611890
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Hypertrophic cardiomyopathy, Micrognathia, Cryptorchidism, 3-Methylglutaconic aciduria, Mandibula...	ORPHA:496790
Mesomelia-Synostoses Syndrome	High, narrow palate, Micromelia, Long philtrum, Aplasia/Hypoplasia of the uvula, Bulbous nose, Mi...	ORPHA:2496
Lessel-Kreienkamp Syndrome	Wide nasal bridge, Dental malocclusion, Open mouth, Patent foramen ovale, Thin upper lip vermilio...	OMIM:619149
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Polymicrogyria, Type II lissencephaly, Encephalocele, Death in childhood...	OMIM:614643
Noonan Syndrome 12	Anteriorly placed anus, Tetralogy of Fallot, Decreased response to growth hormone stimulation tes...	OMIM:618624
Ciliary Dyskinesia, Primary, 30	Nasal polyposis, Respiratory insufficiency, Chronic bronchitis, Respiratory insufficiency due to ...	OMIM:616037
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Cleft upper lip, Camptodactyly of finger, Anteverted nares, Wide mouth, C...	ORPHA:261236
Vici Syndrome	Cardiomyopathy, Depressed nasal tip, Renal tubular acidosis, Ureteral atresia, High palate	ORPHA:1493
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Retrognathia, Micrognathia, Vesicoureteral reflux, Hydronephrosis, Arthrogryposis multiplex conge...	OMIM:618265
Craniosynostosis, Herrmann-Opitz Type	Abnormality of the urethra, Micromelia, Micrognathia, Malar flattening, Abnormality of the upper ...	ORPHA:2145
Coffin-Siris Syndrome	Wide nasal base, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hypospadias, Pa...	ORPHA:1465
Immunodeficiency, Common Variable, 6	Mesangial Immune complex deposition, Stage 5 chronic kidney disease, Hydronephrosis, Hepatomegaly...	OMIM:613496
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Micrognathia, Open mouth, ...	OMIM:614744
Microphthalmia, Syndromic 2	Aortic valve stenosis, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Contract...	OMIM:300166
Cornelia De Lange Syndrome 1	Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Hypopla...	OMIM:122470
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Depressed nasal bridge, Smooth philtrum, Nephroblastoma, Ventricular septal defect	OMIM:602501
Lambotte Syndrome	Narrow mouth, Retrognathia, Convex nasal ridge, Ventricular septal defect	OMIM:245552
Trisomy 18	Choanal atresia, Narrow palate, Microretrognathia, Abnormal morphology of female internal genital...	ORPHA:3380
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Downturned corners of mouth, Diastema, Bulbous nose, Cryptorchidism, Patent foramen ovale, Ventri...	ORPHA:329224
Aicardi-Goutieres Syndrome 9	Thickened glomerular basement membrane, Recurrent urinary tract infections, Hyperechogenic kidney...	OMIM:619487
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Bifid uvula, Aplastic clavicle, Abnormality of the urinary system, Hydroureter, Retrognathia, Mic...	ORPHA:2636
Clark-Baraitser Syndrome	Depressed nasal bridge, Downturned corners of mouth, Long philtrum, Anteverted nares, Exaggerated...	OMIM:617752
Cardiac-Urogenital Syndrome	Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de...	OMIM:618280
Congenital Heart Defects, Multiple Types, 3	Abnormal heart morphology, Persistent left superior vena cava, Tetralogy of Fallot, Atrial septal...	OMIM:614954
Grange Syndrome	Arterial stenosis, Patent ductus arteriosus, Short palm, Ventricular septal defect	ORPHA:79094
Pancreatic And Cerebellar Agenesis	Secundum atrial septal defect, Pancreatic hypoplasia, Convex nasal ridge, Flexion contracture, Pa...	OMIM:609069
Down Syndrome	Duodenal stenosis, Tetralogy of Fallot, Atrioventricular canal defect, Complete atrioventricular ...	OMIM:190685
Brachydactyly, Type B1	Joint contracture of the hand, Hypoplastic sacrum, Ventricular septal defect, Camptodactyly, Micr...	OMIM:113000
Legius Syndrome	Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell...	ORPHA:137605
Mckusick-Kaufman Syndrome	Hydroureter, Vesicovaginal fistula, Hydrometrocolpos, Transverse vaginal septum, Cryptorchidism, ...	OMIM:236700
Tatton-Brown-Rahman Syndrome	Everted upper lip vermilion, Anteverted nares, Short columella, Vesicoureteral reflux, Exaggerate...	OMIM:615879
Roberts Syndrome	Clitoral hypertrophy, Long penis, Underdeveloped nasal alae, Cleft upper lip, Micrognathia, Crypt...	ORPHA:3103
Biliary, Renal, Neurologic, And Skeletal Syndrome	Unbalanced atrioventricular canal defect, Dilatation of the renal pelvis, Dark urine, Ventricular...	OMIM:619534
Orofaciodigital Syndrome V	Bifid uvula, Tetralogy of Fallot, Ankyloglossia, Horseshoe kidney, Hamartoma of tongue, Ventricul...	OMIM:174300
Bor Syndrome	Multicystic kidney dysplasia, Retrognathia, Vesicoureteral reflux, Renal insufficiency, Ureterope...	ORPHA:107
Seckel Syndrome 9	Pulmonary artery hypoplasia, Clitoral hypertrophy, Recurrent urinary tract infections, Micrognath...	OMIM:616777
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Interrupted aortic arch, Anterior pituitary agenesis, Hypoplastic tricuspid valve, Pancreatic hyp...	ORPHA:2255
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Mesomelia, Micromelia, Tetralogy of Fallot, Micrognathia, Situs inversus total...	ORPHA:1908
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Renal hypoplasia, Bifid uvula, Absence of the sacr...	OMIM:617660
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Abnormality of the dentition, Dental crowding, Eruption failure, Long philtrum, Unilateral radial...	ORPHA:476126
Chromosome 14Q11-Q22 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Macroglossia, Mesomelia, Long philtrum, Bilateral cryp...	OMIM:613457
Robinow Syndrome, Autosomal Recessive 1	Small hand, Micrognathia, Cryptorchidism, Hypoplastic labia majora, Hypospadias, Mesomelic arm sh...	OMIM:268310
Robinow Syndrome, Autosomal Dominant 2	Cleft soft palate, Micrognathia, Cryptorchidism, Short nose, Oligodontia, Thin upper lip vermilio...	OMIM:616331
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 2	Dental crowding, Misalignment of incisors, 11 pairs of ribs, Prominent nasal bridge, Patent foram...	OMIM:619184
Chromosome 6Q11-Q14 Deletion Syndrome	Broad nasal tip, Long philtrum, Bilateral cryptorchidism, Prominent nasal bridge, Micrognathia, T...	OMIM:613544
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Prominent scalp veins, Micrognathia, Narrow mouth, Cryptorchidism, Hypospadias, Down...	OMIM:264090
Isolated Klippel-Feil Syndrome	Renal hypoplasia/aplasia, Ventricular septal defect, Congenital muscular torticollis, Ectopic anu...	ORPHA:2345
3Q29 Microdeletion Syndrome	Abnormality of the dentition, Dental crowding, Horseshoe kidney, Prominent nasal bridge, Short ph...	ORPHA:65286
Glioma Susceptibility 3	T-cell acute lymphoblastic leukemias, B Acute Lymphoblastic Leukemia, Medulloblastoma, Nephroblas...	OMIM:613029
Chung-Jansen Syndrome	Long philtrum, Anteverted nares, Micrognathia, Cryptorchidism, Short philtrum, Thin vermilion bor...	OMIM:617991
Severe Congenital Nemaline Myopathy	Dysphagia, Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Aortic valve stenosis, Depressed nasal bridge, Small hand, Widely spaced teeth, Micrognathia, Cam...	ORPHA:459061
Proboscis Lateralis	Unilateral renal agenesis, Choanal atresia, Abnormality of the maxillary sinus, Abnormal facial s...	ORPHA:141099
Okamoto Syndrome	Aortic valve stenosis, Exaggerated median tongue furrow, Open bite, Open mouth, Abnormal mitral v...	ORPHA:2729
Oculoauriculovertebral Spectrum With Radial Defects	Atrioventricular canal defect, Distal urethral duplication, Vesicoureteral reflux, EMG: myopathic...	ORPHA:2549
Donnai-Barrow Syndrome	Depressed nasal bridge, Broad nasal tip, Intestinal malrotation, Congenital diaphragmatic hernia,...	OMIM:222448
Meier-Gorlin Syndrome 7	Choanal atresia, Clitoral hypertrophy, Anal stenosis, Anteriorly placed anus, Duodenal stenosis, ...	OMIM:617063
Hand-Foot-Genital Syndrome	Short distal phalanx of finger, Shortening of all middle phalanges of the fingers, Abnormality of...	ORPHA:2438
Fontaine Progeroid Syndrome	Small scrotum, Micrognathia, Narrow mouth, Cryptorchidism, Protruding tongue, Bicuspid aortic val...	OMIM:612289
Axial Mesodermal Dysplasia Spectrum	Abnormality of the urinary system, Abnormal morphology of female internal genitalia, Abnormality ...	ORPHA:1834
Congenital Megacalycosis	Abnormal renal physiology, Recurrent urinary tract infections, Nephrolithiasis, Hydronephrosis, R...	ORPHA:93109
Acrocallosal Syndrome	Everted upper lip vermilion, Narrow mouth, Cryptorchidism, Open mouth, Protruding tongue, Alveola...	OMIM:200990
Autosomal Dominant Polycystic Kidney Disease	Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Recurre...	ORPHA:730
Acrocardiofacial Syndrome	Wide nasal bridge, Cleft upper lip, Camptodactyly of finger, Tetralogy of Fallot, Mitral stenosis...	ORPHA:2008
Fg Syndrome 5	Depressed nasal bridge, Long philtrum, Diastema, Anteverted nares, Hypospadias, Short nose	OMIM:300581
Cardiomyopathy, Dilated, 1D	Left ventricular noncompaction, Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:601494
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Wide nasal bridge, Small hand, Secundum atrial septal defect, Anteverted nares, Micrognathia, Nar...	OMIM:620455
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Skeletal muscle atrophy, Micrognathia, Cryptorchidism, Thin upper lip vermilion, Smooth philtrum,...	OMIM:615419
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Nephrocalcinosis, Decreased muscle mass, Tented upper lip vermilion, Open mouth, Atrial septal de...	ORPHA:500533
Roifman Syndrome	Downturned corners of mouth, Underdeveloped nasal alae, Long philtrum, Short toe, Narrow nose, An...	OMIM:616651
Microcephaly 10, Primary, Autosomal Recessive	Reduced cerebral white matter volume, Cerebral atrophy, Agenesis of corpus callosum, Primary micr...	OMIM:615095
Bardet-Biedl Syndrome 17	Anosmia, Hypogonadism, Stage 5 chronic kidney disease, Situs inversus totalis, Renal cyst, Polyur...	OMIM:615994
Bardet-Biedl Syndrome 1	High, narrow palate, Dental crowding, Abnormality of the ovary, Decreased testicular size, Hypogo...	OMIM:209900
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Broad columella, Long philtrum, Hypertrophic cardiomyopathy, Narrow nasal brid...	OMIM:619383
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Hypertrophic cardiomyopathy, Elevated urine 2,3-dihydroxy-2-methylbutanoic acid level, Ventricula...	OMIM:616277
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Unilateral renal agenesis, Depressed nasal bridge, Hypoplastic scapulae, Cleft upper lip, Aplasia...	OMIM:308050
Pulmonary Hypertension, Primary, 1	Arterial intimal fibrosis, Right ventricular hypertrophy, Pulmonary aterial intimal fibrosis, Pul...	OMIM:178600
Opsoclonus-Myoclonus Syndrome	Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l...	ORPHA:1183
Alagille Syndrome	Short distal phalanx of finger, Peripheral pulmonary artery stenosis, Abnormality of the ureter, ...	ORPHA:52
Chromosome 2P16.1-P15 Deletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Recurrent upper respiratory tract infections, High, na...	OMIM:612513
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Aganglionic megacolon, Ventricular septal defect	OMIM:235750
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Carious teeth, Grade III vesicoureteral reflux, Cryptorchidism, Ventricular septal defect, Urethr...	OMIM:619522
Diamond-Blackfan Anemia 10	Choanal atresia, Morgagni diaphragmatic hernia, Micrognathia, Congenital diaphragmatic hernia, Re...	OMIM:613309
Coffin-Siris Syndrome 7	Depressed nasal bridge, Downturned corners of mouth, Thick lower lip vermilion, Thick nasal alae,...	OMIM:618027
Aortic Arch Interruption	Abnormal heart morphology, Ventricular septal defect, Truncus arteriosus, Bicuspid aortic valve, ...	ORPHA:2299
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Depressed nasal bridge, Bulbous nose, Open mouth, Cryptorchidism, Patent foramen ovale, Transposi...	OMIM:616789
Congenital Myopathy 14	Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness	OMIM:618414
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Narrow nasal bridge, Micrognathia,...	OMIM:620073
Holoprosencephaly 11	Microcephaly, Holoprosencephaly, Agenesis of corpus callosum	OMIM:614226
Filippi Syndrome	Wide nasal bridge, Broad columella, Underdeveloped nasal alae, Supernumerary nipple, Prominent na...	ORPHA:3255
Stevenson-Carey Syndrome	Joint contracture of the hand, Downturned corners of mouth, Underdeveloped nasal alae, Recurrent ...	OMIM:611961
Combined Oxidative Phosphorylation Deficiency 54	Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matter hyperintensities...	OMIM:619737
Vater/Vacterl Association	Hypospadias, Choanal atresia, Renal agenesis, Renal dysplasia, Short thumb, Tetralogy of Fallot, ...	OMIM:192350
Intellectual Developmental Disorder, Autosomal Dominant 47	Supernumerary nipple, Prominent nasal bridge, Cryptorchidism, Ventricular septal defect, Wide mou...	OMIM:617635
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Neonatal respiratory distress, Atelectasis, Cystic pattern on pulmonary HRCT, Recurrent respirato...	OMIM:610978
Heterotaxy, Visceral, 2, Autosomal	Bilateral superior vena cava, Left atrial isomerism, Atrioventricular canal defect, Intestinal ma...	OMIM:605376
Trisomy 20P	Abnormality of the ureter, Micrognathia, Cryptorchidism, Everted lower lip vermilion, Abnormality...	ORPHA:261318
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot, Cryptorchidism, Ventricular septal...	OMIM:600460
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Hypoplasia of the bladder, Cleft lip, Renal agenesis, Adrenal gland agenesis, Congenital diaphrag...	OMIM:611812
Brain Small Vessel Disease 2	Subcortical heterotopia, Schizencephaly, Porencephalic cyst, Polymicrogyria	OMIM:614483
Hamamy Syndrome	Wide nasal bridge, Dental malocclusion, Long philtrum, Short 2nd finger, Anteverted nares, Microg...	OMIM:611174
Short Stature-Micrognathia Syndrome	Small scrotum, Rhizomelia, Retrognathia, Micrognathia, Cryptorchidism, Ventricular septal defect,...	OMIM:617164
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Short columella, Sho...	OMIM:155050
Chronic Beryllium Disease	Reticulonodular pattern on pulmonary HRCT, Respiratory insufficiency, Lymphocytic interstitial pn...	ORPHA:133
15Q11.2 Microdeletion Syndrome	Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Abnormal...	ORPHA:261183
Beckwith-Wiedemann Syndrome	Nephropathy, Cryptorchidism, Congenital diaphragmatic hernia, Hepatomegaly, Visceromegaly, Abnorm...	ORPHA:116
Joubert Syndrome 3	Wide nasal bridge, Nephronophthisis, Anteverted nares, Stage 5 chronic kidney disease, Open mouth...	OMIM:608629
6P22 Microdeletion Syndrome	Hydronephrosis, Patent ductus arteriosus, Abnormal palate morphology	ORPHA:251046
Velocardiofacial Syndrome	Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie...	OMIM:192430
Peripartum Cardiomyopathy	Dilated cardiomyopathy, Stroke-like episode, Abnormal cardiac atrium morphology, Left atrial enla...	ORPHA:563
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft palate, Cleft upper lip, Ventricular septal defect	OMIM:214300
Peroxisome Biogenesis Disorder 1A (Zellweger)	Aminoaciduria, High, narrow palate, Clitoral hypertrophy, Anteverted nares, Micrognathia, Cryptor...	OMIM:214100
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Everted lower lip vermilion, Short philtrum, Wid...	ORPHA:2429
Adrenocortical Carcinoma	Adrenocortical carcinoma, Lung adenocarcinoma	ORPHA:1501
Micro Syndrome	Wide nasal bridge, Abnormal localization of kidney, Anteverted nares, Micrognathia, Cryptorchidis...	ORPHA:2510
Timothy Syndrome	Depressed nasal bridge, Tetralogy of Fallot, Patent foramen ovale, Ventricular septal defect, Car...	OMIM:601005
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Dysphagia, Respiratory failure	OMIM:613435
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Posterior Urethral Valve	Chronic kidney disease, Enuresis nocturna, Urinary retention, Unilateral renal dysplasia, Recurre...	ORPHA:93110
Intellectual Developmental Disorder, Autosomal Dominant 53	Intestinal malrotation, Cryptorchidism, Ventricular septal defect, Hydronephrosis, Micropenis, Wi...	OMIM:617798
Bartsocas-Papas Syndrome	Absent thumb, Underdeveloped nasal alae, Micrognathia, Narrow mouth, Renal hypoplasia/aplasia, Me...	ORPHA:1234
Schuurs-Hoeijmakers Syndrome	Downturned corners of mouth, Volvulus, Diastema, Bulbous nose, Cryptorchidism, Patent foramen ova...	OMIM:615009
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Absent septum pellucidum, Agenesis of corpus callosum, Hydrocephalus, Aqueductal stenosis, Holopr...	ORPHA:2182
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Atelectasis, Neonatal death	OMIM:300219
Distal Duplication 6P	Renal hypoplasia, Abnormality of the urinary system, Prominent nasal bridge, Narrow mouth, Microg...	ORPHA:1745
Ventriculomegaly With Cystic Kidney Disease	Hyperechogenic kidneys, Renal insufficiency, Ventricular septal defect, Renal corticomedullary cy...	OMIM:219730
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Small scrotum, Multiple bladder diverticula, Widely spaced teeth, Cryptorchidism, Microdontia, Pr...	ORPHA:2728
Mercury Poisoning	Interstitial pneumonitis, Respiratory failure, Anorexia	ORPHA:330021
Heterotaxy, Visceral, 7, Autosomal	Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve...	OMIM:616749
X-Linked Intellectual Disability Due To Gria3 Mutations	Macrodontia of permanent maxillary central incisor, Narrow palate, Thick vermilion border, Open m...	ORPHA:364028
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Tetralogy of Fallot, Absent cupid's bow, Crossed fused renal ec...	ORPHA:2919
Atresia Of Urethra	Hydroureter, Megacystis, Recurrent urinary tract infections, Bladder fistula, Renal insufficiency...	ORPHA:105
Peters Plus Syndrome	Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Renal hypoplasia/aplasia, Anal atresi...	ORPHA:709
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Open mouth, Thin upper lip vermi...	OMIM:613604
Renal Hypoplasia	Chronic kidney disease, Unilateral renal agenesis, Glomerulomegaly, Recurrent urinary tract infec...	ORPHA:93101
Leopard Syndrome 1	Unilateral renal agenesis, Depressed nasal ridge, Mandibular prognathia, Hyposmia, Hypertrophic c...	OMIM:151100
Short Stature, Developmental Delay, And Congenital Heart Defects	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Ventricular septal defect	OMIM:617044
Say Syndrome	Short distal phalanx of finger, Micrognathia, Cystic renal dysplasia, Proximal renal tubular acid...	OMIM:181180
Harel-Yoon Syndrome	Distal amyotrophy, Hypertrophic cardiomyopathy, Micrognathia, Mandibular prognathia, Short nose	OMIM:617183
Aneurysm-Osteoarthritis Syndrome	Arterial dissection, Bifid uvula, Dental malocclusion, Aortic dissection, Retrognathia, Arterial ...	ORPHA:284984
Tetrasomy 9P	Hypoplastic scapulae, Small hand, Micrognathia, Absent gallbladder, Cryptorchidism, Abnormal mitr...	ORPHA:3310
Apert Syndrome	Choanal atresia, Depressed nasal bridge, Bifid uvula, Dental malocclusion, Delayed eruption of te...	OMIM:101200
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Hypoplastic female external genitalia, Long philtrum, Anteverted nares, Microg...	OMIM:618577
Thrombocytopenia-Absent Radius Syndrome	Axial malrotation of the kidney, Tetralogy of Fallot, Horseshoe kidney, Fibular aplasia, Microgna...	ORPHA:3320
Miller-Dieker Syndrome	Nephropathy, Anteverted nares, Abnormal upper lip morphology, Short nose	ORPHA:531
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Depressed nasal bridge, Microretrognathia, Micromelia, Long philtrum, Anteverted nares, Patent fo...	OMIM:618870
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Choanal atresia, Depressed nasal bridge, Pancreatic hypoplasia, Long philtrum, Splenomegaly, Thin...	OMIM:610199
Trichorhinophalangeal Syndrome, Type Ii	Carious teeth, Hyperplasia of the maxilla, Hydrometrocolpos, Micrognathia, Bicuspid aortic valve,...	OMIM:150230
Kagami-Ogata Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteverted nares,...	OMIM:608149
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Micrognathia, Narrow mouth, Abnormal palate morphology, Short nose	ORPHA:1495
Prader-Willi Syndrome Due To Translocation	Small hand, Carious teeth, Micrognathia, Everted lower lip vermilion, Anterior pituitary hypoplas...	ORPHA:177907
Brachydactyly, Type E, With Atrial Septal Defect, Type Ii	Short 4th metacarpal, Short metatarsal, Atrial septal defect	OMIM:113301
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Micrognathia, Short lingual frenulum, Cryptorchidism, Congenital diaphragm...	ORPHA:96121
Pelger-Huet Anomaly	Depressed nasal bridge, Abnormality of the dentition, Short 3rd metacarpal, Upper limb undergrowt...	OMIM:169400
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Intraalveolar phospholipid accumulation, Spontaneous neonatal pneu...	ORPHA:217563
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Depressed nasal bridge, Cleft lip, Natal tooth, Uterus didelphys, Short tibia, Tetralogy of Fallo...	OMIM:617925
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Peripheral pulmonary artery stenosis, Abnormality of frontal sinus, Short th...	ORPHA:436003
Kabuki Syndrome 2	Short 5th finger, Broad nasal tip, Natal tooth, Dental malocclusion, Atrioventricular canal defec...	OMIM:300867
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Precocious puberty, Wide nasal bridge, Bifid uvula, Cleft upper lip, Bulbous nose, Anteverted nar...	OMIM:300958
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Dysgenesis of the basal ganglia, Death in childhood, Agenesis of corpus callosum, Pachygyria, Lis...	OMIM:620316
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hydronephrosis, Contracture of the proximal interphalangeal joint of the 5th finger, Pulmonic ste...	OMIM:620141
Cat-Eye Syndrome	Hydronephrosis, Abnormal localization of kidney, Anal atresia, Renal hypoplasia/aplasia	ORPHA:195
Wrinkly Skin Syndrome	Wide nasal bridge, Hypoplasia of the musculature, Carious teeth, Microretrognathia, Delayed erupt...	OMIM:278250
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Congenital Myopathy 11	Patent ductus arteriosus, Atrial septal defect, Patent foramen ovale, Weakness of facial musculature	OMIM:619967
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent upper respiratory tract infections, Dental crowding, Persistence of primary teeth, Vent...	OMIM:619769
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Wide nasal bridge, Retrognathia, Long philtrum, Prominent nasal bridge, Cryptorchidism, Ventricul...	OMIM:617452
Primary Non-Essential Cutis Verticis Gyrata	Atrial septal defect, Ventricular septal defect	ORPHA:357225
Miller-Dieker Lissencephaly Syndrome	Wide nasal bridge, Joint contracture of the hand, Delayed eruption of teeth, Abnormal heart morph...	OMIM:247200
19Q13.11 Microdeletion Syndrome	Broad columella, Bifid scrotum, Supernumerary nipple, Underdeveloped nasal alae, Retrognathia, Wi...	ORPHA:217346
3-Methylglutaconic Aciduria, Type V	3-Methylglutaric aciduria, Dilated cardiomyopathy, Decreased testicular size, Cryptorchidism, 3-M...	OMIM:610198
Isolated Dandy-Walker Malformation	Tetralogy of Fallot, Cleft palate	ORPHA:217
3Mc Syndrome 1	Short 5th finger, Cleft lip, Dental crowding, Cleft upper lip, Supernumerary nipple, Diastasis re...	OMIM:257920
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	Increased urine alpha-ketoglutarate concentration, Ketonuria, Dicarboxylic aciduria, 3-hydroxydic...	OMIM:619355
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:2759
Intellectual Developmental Disorder, Autosomal Dominant 48	Anteverted nares, Prominent nasal bridge, Open mouth, Ventricular septal defect, Bicuspid aortic ...	OMIM:617751
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Long philtrum, Thin upper lip vermilion, Smooth philtrum, Short nose	ORPHA:438178
Congenital Disorder Of Glycosylation, Type Iiaa	Unilateral renal agenesis, Patent ductus arteriosus after premature birth, Ventricular septal def...	OMIM:620454
Intellectual Developmental Disorder, X-Linked 112	Enuresis nocturna, Enuresis, Dilatation of the renal pelvis, Volvulus, Abnormal heart morphology,...	OMIM:301111
Periventricular Nodular Heterotopia 1	Abnormality of neuronal migration, Thin corpus callosum, Gray matter heterotopia, Hypoplasia of t...	OMIM:300049
Congenital Myopathy 10B, Mild Variant	Recurrent pneumonia, Dysphagia, Respiratory failure	OMIM:620249
Floating-Harbor Syndrome	Carious teeth, Cryptorchidism, Atrial septal defect, Celiac disease, Hypospadias, Varicocele, Sho...	OMIM:136140
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Chronic kidney disease, Nephronophthisis, Splenomegaly, Ventricular septal defect, Short ribs, Or...	OMIM:615630
Acromicric Dysplasia	Small hand, Long philtrum, Thick lower lip vermilion, Bulbous nose, Anteverted nares, Narrow mout...	ORPHA:969
Diabetes Insipidus, Neurohypophyseal	Long philtrum, Short nose, Wide nose	OMIM:125700
Joubert Syndrome 35	Renal fibrosis, Depressed nasal bridge, Multicystic kidney dysplasia, Recurrent urinary tract inf...	OMIM:618161
Acrorenal Syndrome	Aplasia/Hypoplasia of the radius, Micrognathia, Renal insufficiency, Renal hypoplasia/aplasia, Ab...	ORPHA:971
Oculodentodigital Dysplasia	Carious teeth, Underdeveloped nasal alae, Selective tooth agenesis, Cleft upper lip, Narrow nose,...	OMIM:164200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Oligosacchariduria, Hypertrophic cardiomyopathy, Facial hypotonia, Cardiomegaly, Left ventricular...	ORPHA:308552
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,...	ORPHA:453504
Branchio-Oculo-Facial Syndrome	Wide nasal bridge, Multicystic kidney dysplasia, Broad nasal tip, Upper lip pit, Renal agenesis, ...	ORPHA:1297
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,...	ORPHA:352665
Idiopathic Chronic Eosinophilic Pneumonia	Hypersensitivity pneumonitis, Pleural effusion, Atelectasis	ORPHA:2902
Ritscher-Schinzel Syndrome 2	Short distal phalanx of finger, Pulmonary artery hypoplasia, Camptodactyly of finger, Intestinal ...	OMIM:300963
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:610127
Pontocerebellar Hypoplasia Type 2	Dysplastic corpus callosum, Abnormal cortical gyration, Progressive microcephaly, Hypoplasia of t...	ORPHA:2524
Aural Atresia, Multiple Congenital Anomalies, And Impaired Intellectual Development	Ventricular septal defect	OMIM:209770
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Choanal atresia, Retrognathia, Prominent nasal bridge, Ventricular septal defect, High palate, Pa...	ORPHA:52055
Distal Deletion 10Q	Wide nasal bridge, Acute kidney injury, Functional abnormality of the bladder, Horseshoe kidney, ...	ORPHA:96148
Congenital Aortic Valve Stenosis	Aortic valve stenosis, Aortic valve calcification, Endocardial fibroelastosis, Left ventricular h...	ORPHA:3093
Jansen-De Vries Syndrome	Small hand, Anteverted nares, Ventricular septal defect, Thin upper lip vermilion, Bicuspid aorti...	OMIM:617450
Desmosterolosis	Depressed nasal bridge, Bifid uvula, Renal agenesis, Abnormality of the nose, Retrognathia, Intes...	ORPHA:35107
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Abnormal heart morphology, Micrognathia, Congenital diaphragmatic h...	ORPHA:261197
Developmental And Epileptic Encephalopathy 75	Wide nasal bridge, Cardiomyopathy, Anteverted nares, Open mouth, Short philtrum, Short nose	OMIM:618437
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory failure, Pulmonary hypoplasia	OMIM:617895
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dysplasti...	OMIM:601808
Cenani-Lenz Syndactyly Syndrome	Renal hypoplasia, Renal agenesis, Micrognathia, Malar flattening, Hypodontia, Enamel hypoplasia, ...	OMIM:212780
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Long philtrum, Supernumerary nipple, Abnormal heart morphology, Patent foramen ovale, Ventricular...	ORPHA:457279
Short Stature And Facioauriculothoracic Malformations	High palate, Cleft palate, Cleft upper lip, Ventricular septal defect	OMIM:609654
Keutel Syndrome	Depressed nasal bridge, Short distal phalanx of finger, Underdeveloped nasal alae, Recurrent sinu...	ORPHA:85202
Renal And Mullerian Duct Hypoplasia	Renal hypoplasia, Horseshoe kidney, Micrognathia, Aplasia of the uterus, Anteriorly displaced ure...	OMIM:266810
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro...	OMIM:137550
Smith-Lemli-Opitz Syndrome	Multicystic kidney dysplasia, Clitoral hypertrophy, Micrognathia, Cryptorchidism, Congenital diap...	ORPHA:818
Neurodevelopmental Disorder With Or Without Autism Or Seizures	Bifid uvula, Absent thumb, Submucous cleft hard palate, Atrial septal defect, Pulmonic stenosis	OMIM:619239
Doors Syndrome	Wide nasal base, Short lingual frenulum, Adrenal hyperplasia, Open mouth, Aplasia/Hypoplasia of t...	ORPHA:79500
Bohring-Opitz Syndrome	Supernumerary nipple, Micrognathia, Narrow mouth, Ventricular septal defect, Bilateral cleft pala...	OMIM:605039
Focal Dermal Hypoplasia	Abnormality of the dentition, Multicystic kidney dysplasia, Duodenal atresia, Tooth agenesis, Hor...	ORPHA:2092
Hydrocephaly-Low Insertion Umbilicus Syndrome	Abnormality of the urinary system, Tetralogy of Fallot, Long nose, Patent ductus arteriosus, Anom...	ORPHA:2184
Trigonocephaly 1	Wide nasal bridge, High, narrow palate, Long penis, Meckel diverticulum, Long philtrum, Short nose	OMIM:190440
Formiminoglutamic Aciduria	Abnormal concentration of acylcarnitine in the urine, Atrial septal defect	ORPHA:51208
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Congenital shortened small intestine, Intestinal pseudo-obstruction, Intestinal malrotation, Incr...	OMIM:300048
Transaldolase Deficiency	Depressed nasal bridge, Clitoral hypertrophy, Hepatosplenomegaly, Splenomegaly, Patent foramen ov...	OMIM:606003
Developmental And Epileptic Encephalopathy 90	Fetal pyelectasis, Atrial septal defect, Limb hypertonia	OMIM:301058
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N...	OMIM:245400
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo...	ORPHA:1529
Avian Influenza	Pneumonia, Pleural effusion, Pneumothorax, Respiratory failure, Miscarriage	ORPHA:454836
Cardioacrofacial Dysplasia 2	Conical tooth, Atrioventricular canal defect, Tented upper lip vermilion, Hypodontia, Prominent n...	OMIM:619143
Ventriculomegaly With Defects Of The Radius And Kidney	Absent thumb, Renal agenesis, Horseshoe kidney, Vascular dilatation, Absent radius, Ureteral dupl...	OMIM:602200
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Microcephaly, Simplified gyral pattern	OMIM:620001
Fetal Valproate Spectrum Disorder	Depressed nasal ridge, Downturned corners of mouth, Long philtrum, Narrow mouth, Thin vermilion b...	ORPHA:1906
Caudal Duplication	Abnormal penis morphology, Intestinal duplication, Uterus didelphys, Cryptorchidism, Renal hypopl...	ORPHA:1756
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Depressed nasal bridge, Micromelia, Anteverted nares, Short ribs, Cardiomegaly, Deep philtrum, Va...	OMIM:613320
Maffucci Syndrome	Pituitary adenoma, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, Astrocyto...	ORPHA:163634
Acalvaria	Abnormality of neuronal migration, Holoprosencephaly, Hydrocephalus, Spina bifida	ORPHA:945
Mosaic Variegated Aneuploidy Syndrome 2	Depressed nasal bridge, Rhizomelia, Decreased response to growth hormone stimulation test, Bulbou...	OMIM:614114
Combined Oxidative Phosphorylation Deficiency 52	Respiratory failure, Death in infancy, Anorexia	OMIM:619386
Coffin-Siris Syndrome 4	Everted upper lip vermilion, Ventricular septal defect, Atrial septal defect, Patent ductus arter...	OMIM:614609
Ulbright-Hodes Syndrome	Clitoral hypertrophy, Fibular aplasia, Enlarged labia minora, Narrow mouth, Cryptorchidism, Micro...	ORPHA:3404
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia	Urinary incontinence, Atrial septal defect	OMIM:620094
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Chylothorax, Death in childhood, Death in infancy, Dysphagia, Respiratory failure	OMIM:620278
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus callosum	OMIM:617542
Mosaic Trisomy 8	Broad nasal tip, Camptodactyly of finger, Decreased testicular size, Anteverted nares, Micrognath...	ORPHA:96061
Ogden Syndrome	High, narrow palate, Microretrognathia, Everted upper lip vermilion, Underdeveloped nasal alae, E...	ORPHA:276432
Split-Hand/Foot Malformation 3	Renal hypoplasia, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Camptodactyly, High...	OMIM:246560
Peho-Like Syndrome	Open mouth, Retrognathia, Short nose	OMIM:617507
Oculofaciocardiodental Syndrome	Bifid nasal tip, Peripheral pulmonary artery stenosis, Tooth malposition, Abnormality of the dent...	ORPHA:2712
Mosaic Trisomy 16	Craniofacial asymmetry, Short forearm, Meckel diverticulum, Abnormality of the nose, Anteriorly p...	ORPHA:1708
Insulin-Like Growth Factor I, Resistance To	Wide nasal bridge, Small hand, Retrognathia, Long philtrum, Short finger, Micrognathia, Narrow mo...	OMIM:270450
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Microcolon, Hydroureter, Megacystis, Intestinal malrotation, Hydronephrosis	OMIM:619431
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Depressed nasal bridge, Mandibular prognathia, Dilation of Virchow-Robin spaces, Downturned corne...	OMIM:619720
19P13.3 Microduplication Syndrome	Precocious puberty, Underdeveloped nasal alae, Prominent nose, Micrognathia, Narrow mouth, Ventri...	ORPHA:447980
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebral atrophy, Small basal ganglia, Abnormal periventricular white matter morphology, Perivent...	OMIM:616900
Rere-Related Neurodevelopmental Syndrome	Choanal atresia, Abnormal heart morphology, Anteverted nares, Micrognathia, Vesicoureteral reflux...	ORPHA:494344
Sick Sinus Syndrome 2	Left ventricular noncompaction, Left ventricular hypertrophy, Mitral valve prolapse	OMIM:163800
Ciliary Dyskinesia, Primary, 1	Pneumonia, Nasal polyposis, Atelectasis, Recurrent bronchitis, Bronchiectasis, Absent outer dynei...	OMIM:244400
Wolcott-Rallison Syndrome	Chronic kidney disease, Renal insufficiency, Double outlet right ventricle, Atrial septal defect,...	ORPHA:1667
Smith-Magenis Syndrome	Precocious puberty, Wide nasal bridge, Depressed nasal bridge, Mandibular prognathia, Cleft upper...	ORPHA:819
Hydrolethalus Syndrome 2	Anencephaly, Hydrocephalus, Agenesis of corpus callosum	OMIM:614120
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia	OMIM:211890
Seckel Syndrome 5	Clitoral hypertrophy, Retrognathia, Selective tooth agenesis, 11 pairs of ribs, Prominent nasal b...	OMIM:613823
Jacobsen Syndrome	Aortic valve stenosis, Multicystic kidney dysplasia, Cryptorchidism, Ventricular septal defect, D...	ORPHA:2308
Chromosome 10Q26 Deletion Syndrome	Flared nostrils, Small scrotum, Wide nasal bridge, Long philtrum, Prominent nose, Micrognathia, V...	OMIM:609625
Fanconi Anemia, Complementation Group I	Renal hypoplasia, Absent thumb, Short 1st metacarpal, Short thumb, Horseshoe kidney, Decreased re...	OMIM:609053
Weill-Marchesani Syndrome	Aortic valve stenosis, Short thumb, Pulmonic stenosis, Ventricular septal defect	ORPHA:3449
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Wide nasal bridge, Mandibular prognathia, Microretrognathia, Dilation of Virchow-Robin spaces, De...	OMIM:300998
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Eosinophilic infiltration of the esophagus, Multiple muscular ventricular septal defects, Pulmoni...	OMIM:615508
Cardiofaciocutaneous Syndrome 1	Depressed nasal bridge, Abnormality of the dentition, Dental malocclusion, Hypertrophic cardiomyo...	OMIM:115150
Autosomal Dominant Coarctation Of Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal...	ORPHA:1455
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Agenesis of corpus callosum, Microcephaly, Colpocephaly, Hydrocephalus, Gray matter heterotopia, ...	OMIM:615219
Tuberous Sclerosis Complex	Chronic kidney disease, Pituitary adenoma, Pheochromocytoma, Cardiac rhabdomyoma, Pulmonary lymph...	ORPHA:805
Arthrogryposis Multiplex Congenita 6	Death in infancy, Respiratory failure, Death in childhood, Neonatal death	OMIM:619334
Lethal Congenital Contracture Syndrome 10	Narrow palate, Increased variability in muscle fiber diameter, Long philtrum, Micrognathia, Ventr...	OMIM:617022
Ciliary Dyskinesia, Primary, 20	Aortic valve stenosis, Situs inversus totalis, Atrial situs inversus, Ventricular septal defect, ...	OMIM:615067
Chromosome 1Q41-Q42 Deletion Syndrome	Depressed nasal bridge, Broad nasal tip, Cleft upper lip, Supernumerary nipple, Widely spaced tee...	OMIM:612530
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Wide nasal bridge, Conical tooth, Cleft lip, Hypoplasia of the maxilla, Bilateral choanal atresia...	OMIM:106260
Desbuquois Syndrome	Depressed nasal bridge, Small hand, Camptodactyly of finger, Anteverted nares, Ventricular septal...	ORPHA:1425
Pfeiffer Syndrome Type 3	Choanal atresia, Depressed nasal bridge, Small hand, Horseshoe kidney, Intestinal malrotation, Ve...	ORPHA:93260
Brain-Lung-Thyroid Syndrome	Recurrent pneumonia, Neonatal respiratory distress, Abnormal eating behavior, Abnormal drinking b...	ORPHA:209905
Palmoplantar Carcinoma, Multiple Self-Healing	Squamous cell carcinoma, Carcinoma	OMIM:615225
Smith-Lemli-Opitz Syndrome	Small scrotum, Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dup...	OMIM:270400
Kleefstra Syndrome 1	Mandibular prognathia, Natal tooth, Anteverted nares, Persistence of primary teeth, Conotruncal d...	OMIM:610253
Tetralogy Of Fallot And Glaucoma	Tetralogy of Fallot	OMIM:187501
Holoprosencephaly 14	Cleft lip, Proboscis, Anteverted nares, Ventricular septal defect, Median cleft upper lip, Double...	OMIM:619895
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly, Death in childhood, Death in infancy	OMIM:619423
Trisomy 12P	Wide nasal bridge, Abnormality of the urinary system, Downturned corners of mouth, Supernumerary ...	ORPHA:1699
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Hydrolethalus Syndrome 1	Abnormal vagina morphology, Upper limb undergrowth, Midline defect of the nose, Micrognathia, Com...	OMIM:236680
Proximal Spinal Muscular Atrophy	Neonatal respiratory distress, Recurrent infections due to aspiration, Intercostal muscle weaknes...	ORPHA:70
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Depressed nasal bridge, Short distal phalanx of finger, Delayed eruption of teeth, Underdeveloped...	OMIM:615866
19P13.12 Microdeletion Syndrome	Precocious puberty, Arthrogryposis multiplex congenita, Long philtrum, Narrow nasal bridge, Antev...	ORPHA:254346
Lower Limb Malformation-Hypospadias Syndrome	Abnormality of the ureter, Hypospadias	ORPHA:2487
Holoprosencephaly 3	Depressed nasal bridge, Bifid uvula, Cleft lip, Abnormality of the nose, Proboscis, Short columel...	OMIM:142945
Genitopatellar Syndrome	Small scrotum, Multicystic kidney dysplasia, Clitoral hypertrophy, Enlarged labia minora, Microgn...	OMIM:606170
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Abnormal heart morphology, Anteverted nares, Micrognathia, Tented upper l...	ORPHA:314655
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure	ORPHA:3226
Schöpf-Schulz-Passarge Syndrome	Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm	ORPHA:50944
Waardenburg Syndrome Type 3	Atelectasis	ORPHA:896
Radio-Tartaglia Syndrome	Precocious puberty, Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Dental crowdi...	OMIM:619312
T-Cell Immunodeficiency With Thymic Aplasia	Emphysema, Recurrent pneumonia, Bronchiectasis, Recurrent bronchopulmonary infections	OMIM:242700
20Q13.33 Microdeletion Syndrome	Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Bulbous nose, Narrow nos...	ORPHA:261311
Meckel Syndrome, Type 9	Multicystic kidney dysplasia, Ambiguous genitalia, Limb undergrowth	OMIM:614209
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Ventricular septal defect, Everte...	OMIM:608670
Triploidy	Intestinal malrotation, Wide mouth, Narrow mouth, Cryptorchidism, Micrognathia, Ambiguous genital...	ORPHA:3376
Multifocal Atrial Tachycardia	Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Lef...	ORPHA:3282
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic valve stenosis, Hypospadias, Unilateral renal agenesis, Ankle flexion contracture, Short t...	ORPHA:464311
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Velopharyngeal insufficiency, Long philtrum, Short femoral neck, Tetralogy of ...	OMIM:614701
Isotretinoin-Like Syndrome	Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormality of the pulmonary veins,...	ORPHA:2306
Aortic Valve Disease 3	Aortic valve stenosis, Aortic root aneurysm, Bicuspid aortic valve, Atrial septal defect, Ascendi...	OMIM:618496
8P11.2 Deletion Syndrome	Anosmia, Depressed nasal bridge, Hypogonadism, Azoospermia, Micrognathia, Cryptorchidism, Mitral ...	ORPHA:251066
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Recurrent urinary tract infections, Stage 2 chronic kidney disease, Vesicoureteral reflux, Hydron...	OMIM:191800
Cardiofaciocutaneous Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Long philtrum, Hypertrophic cardiomyopa...	ORPHA:1340
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly, Death in childhood	OMIM:604273
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Flexion contracture, Short nose	OMIM:618379
15Q Overgrowth Syndrome	Wide nasal bridge, High, narrow palate, Bifid uvula, Microretrognathia, Dental crowding, Ureterov...	ORPHA:314585
Marcus-Gunn Syndrome	Choanal atresia, Cleft lip, Abnormal heart morphology, Abnormality of the sense of smell, Nephrol...	ORPHA:91412
Trisomy 10P	Depressed nasal bridge, Abnormality of the nose, Abnormal lip morphology, Decreased muscle mass, ...	ORPHA:171929
Urofacial Syndrome 2	Megacystis, Recurrent urinary tract infections, Renal insufficiency, Vesicoureteral reflux, Hydro...	OMIM:615112
Buratti-Harel Syndrome	Bifid uvula, Dilation of Virchow-Robin spaces, Velopharyngeal insufficiency, Cryptorchidism, Subm...	OMIM:619314
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Flared nostrils, Unilateral renal agenesis, Total anomalous pulmonary venous return, Wide nasal b...	ORPHA:487796
Encephalopathy Due To Sulfite Oxidase Deficiency	Aminoaciduria, Long philtrum, Short nose, Thick vermilion border	ORPHA:833
Familial Idiopathic Dilatation Of The Right Atrium	Cardiomegaly, Abnormal vena cava morphology, Hepatomegaly, Right atrial enlargement, Abnormal jug...	ORPHA:1677
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Long philtrum, Prominent nasal bridge, Cryptorchidism, Ventricular septal defect, T...	ORPHA:505237
Cardiofacioneurodevelopmental Syndrome	Cleft lip, Atrioventricular canal defect, Micrognathia, Cryptorchidism, Ventricular septal defect...	OMIM:619123
Hanac Syndrome	Hematuria, Multiple renal cysts, Renal insufficiency	ORPHA:73229
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Restrictive cardiomyopathy, Depressed nasal tip, Patent foramen ovale, Camptodactyly, Hypoplasia ...	ORPHA:88630
Cardiofaciocutaneous Syndrome 3	Hypertrophic cardiomyopathy, Ventricular septal defect, Atrial septal defect, Wide mouth, Pulmoni...	OMIM:615279
Cirrhotic Cardiomyopathy	Cardiomegaly, Left atrial enlargement, Left ventricular hypertrophy, Hepatomegaly, Right atrial e...	ORPHA:57777
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Smooth philtrum, Esophageal atresia, Atrial septal defect, Facia...	OMIM:614526
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome	Wide nasal base, Wide nasal bridge, Depressed nasal bridge, Dental crowding, Oligosacchariduria, ...	ORPHA:397709
Acrodysostosis 2 With Or Without Hormone Resistance	Depressed nasal bridge, Mandibular prognathia, Anteverted nares, Cryptorchidism, Malar flattening...	OMIM:614613
Meckel Syndrome	Depressed nasal ridge, Multicystic kidney dysplasia, Aplasia/Hypoplasia of the tongue, Furrowed t...	ORPHA:564
Ohdo Syndrome, Sbbys Variant	Depressed nasal bridge, Dilated cardiomyopathy, Bulbous nose, Micrognathia, Cryptorchidism, Micro...	OMIM:603736
Camptodactyly Syndrome, Guadalajara Type 1	Depressed nasal bridge, Short distal phalanx of finger, Dental malocclusion, Downturned corners o...	ORPHA:1327
Brain Malformations With Or Without Urinary Tract Defects	Renal hypoplasia, Anteverted nares, Vesicoureteral reflux, Narrow mouth, Hydronephrosis, Thin upp...	OMIM:613735
Ververi-Brady Syndrome	Broad nasal tip, Bulbous nose, Prominent nose, Thin upper lip vermilion, Smooth philtrum, Transpo...	OMIM:617982
Intellectual Developmental Disorder, X-Linked, Syndromic, Hackmann-Di Donato Type	Aortic root aneurysm, Open mouth, Cryptorchidism, Ventricular septal defect, Atrial septal defect...	OMIM:301039
Urban-Rogers-Meyer Syndrome	Camptodactyly of finger, Hypogonadism, Abnormality of the ureter, Prominent nasal bridge, Microgn...	ORPHA:3409
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Wide nasal bridge, Anal stenosis, Broad nasal tip, Tented upper lip vermilion, Aganglionic megaco...	OMIM:614207
Xeroderma Pigmentosum Variant	Basal cell carcinoma, Melanoma, Squamous cell carcinoma	ORPHA:90342
Intermediate Nemaline Myopathy	Dysphagia, Respiratory failure	ORPHA:171433
Aase-Smith Syndrome I	Flexion contracture, Open mouth, Cleft palate, Ventricular septal defect	OMIM:147800
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Arteria lusoria, Anteriorly placed anus, Supernumerary nipple, Vesicoureteral reflux, Cryptorchid...	OMIM:618653
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Carious teeth, Natal tooth, Cryptorchidism, Ventricular septal defect, Bic...	ORPHA:353281
Ochoa Syndrome	Urethral obstruction, Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficie...	ORPHA:2704
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Short ribs, Atrial septal defect...	ORPHA:2519
Igg4-Related Kidney Disease	Chronic kidney disease, Arteritis, Urethritis, Hematuria, Prostatitis, Abnormality of the anterio...	ORPHA:449395
Acquired Aneurysmal Subarachnoid Hemorrhage	Hypopituitarism, Ischemic stroke, Abnormal cerebral artery morphology, Left ventricular hypertrop...	ORPHA:90065
Frontometaphyseal Dysplasia	Hypoplasia of the musculature, Joint contracture of the hand, Short distal phalanx of the thumb, ...	ORPHA:1826
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Abnormal tricuspid valve morphology, Abnormal aortic morphology, Ventricular septal defect, Intes...	ORPHA:3405
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Mandibular prognathia, Short toe, Long philtru...	ORPHA:439822
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts, Vascular dilatation	ORPHA:2924
Jacobsen Syndrome	Depressed nasal bridge, Annular pancreas, Anteverted nares, Micrognathia, Cryptorchidism, Ventric...	OMIM:147791
Noonan Syndrome 3	Hypoplastic nasal bridge, Hypertrophic cardiomyopathy, Anteverted nares, Cryptorchidism, Mitral v...	OMIM:609942
Loeys-Dietz Syndrome 3	Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Mitral valve prol...	OMIM:613795
Robinow Syndrome, Autosomal Dominant 1	Small hand, Micrognathia, Short lingual frenulum, Cryptorchidism, Short hard palate, Hypoplastic ...	OMIM:180700
Hinman Syndrome	Recurrent urinary tract infections, Vesicoureteral reflux, Renal insufficiency, Hydronephrosis, E...	ORPHA:84085
Chromosome 15Q25 Deletion Syndrome	Cleft upper lip, Coronary artery fistula, Tented upper lip vermilion, Cryptorchidism, Congenital ...	OMIM:614294
Au-Kline Syndrome	Chronic kidney disease, Aortic root aneurysm, Dilatation of the renal pelvis, Supernumerary nippl...	OMIM:616580
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Hydronephrosis, Aganglionic megacolon, Anal atresia	OMIM:235760
Kabuki Syndrome 1	Wide nasal bridge, Abnormality of the dentition, Anal stenosis, Short 5th finger, Anoperineal fis...	OMIM:147920
Fibrochondrogenesis 1	Depressed nasal bridge, Joint contracture of the hand, Hypoplastic scapulae, Small hand, Rhizomel...	OMIM:228520
Hyperekplexia 4	Respiratory failure	OMIM:618011
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Anteverted nares, Ventricular septal defect, Hypoplasia of teeth, Short nose	OMIM:234050
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	11 pairs of ribs, Cryptorchidism, Ventricular septal defect, Tracheoesophageal fistula, Esophagea...	ORPHA:77298
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Choanal atresia, Broad alveolar ridges, Cleft lip, Annular pancreas, Duodenal atresia, Bulbous no...	OMIM:616975
Idiopathic Pulmonary Arterial Hypertension	Abnormal jugular vein morphology, Right ventricular hypertrophy	ORPHA:275766
Alpha-1-Antitrypsin Deficiency	Emphysema, Bronchiectasis, Bronchitis	ORPHA:60
Nephrogenic Diabetes Insipidus	Enuresis nocturna, Functional abnormality of the bladder, Hydroureter, Renal insufficiency, Hypos...	ORPHA:223
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Hypoplastic cervical vertebrae...	ORPHA:79345
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Respiratory insufficiency	ORPHA:370968
Punctate Palmoplantar Keratoderma Type 1	Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage...	ORPHA:79501
Orofaciodigital Syndrome Type 1	Multicystic kidney dysplasia, Open bite, Micrognathia, High palate, Accessory oral frenulum, Choa...	ORPHA:2750
Rabson-Mendenhall Syndrome	Precocious puberty, Abnormality of the dentition, Nephrocalcinosis, Long penis, Clitoral hypertro...	ORPHA:769
Lethal Congenital Contracture Syndrome 1	Neonatal death, Pulmonary hypoplasia	OMIM:253310
Non-Distal Duplication 13Q	Abnormality of the dentition, Long philtrum, Micrognathia, Cryptorchidism, Everted lower lip verm...	ORPHA:1702
Osteopathia Striata With Cranial Sclerosis	Multicystic kidney dysplasia, Joint contracture of the hand, Natal tooth, Fibular aplasia, Microg...	OMIM:300373
Dyrk1A-Related Intellectual Disability Syndrome	Aortic valve stenosis, Hypospadias, Unilateral renal agenesis, Acromesomelia, Duodenal atresia, B...	ORPHA:464306
Lateral Meningocele Syndrome	Dental crowding, Long philtrum, Decreased muscle mass, Micrognathia, Cryptorchidism, Malar flatte...	OMIM:130720
Bdv Syndrome	Micrognathia, Cryptorchidism, Hypogonadotropic hypogonadism, Atrial septal defect, Micropenis	OMIM:619326
Congenital Disorder Of Glycosylation, Type Iil	Unilateral renal agenesis, Inflammation of the large intestine, Proximal tubulopathy, Retrognathi...	OMIM:614576
Pelvis-Shoulder Dysplasia	Microglossia, Camptodactyly of finger, Micrognathia, Mesomelic/rhizomelic limb shortening, Thick ...	ORPHA:2839
Intellectual Developmental Disorder, X-Linked 21	Dental crowding, Tented upper lip vermilion, Open mouth, Macroorchidism, Mandibular prognathia, S...	OMIM:300143
Epidermal Nevus Syndrome	Aortic aneurysm, Rhabdomyosarcoma, Polycystic kidney dysplasia, Weakness of long finger extensor ...	ORPHA:35125
Early Infantile Epileptic Encephalopathy	Precocious puberty, Depressed nasal bridge, Ureterocele, Short finger, Anteverted nares, Ventricu...	ORPHA:1934
Pseudo-Torch Syndrome 1	Cleft lip, Microretrognathia, Long philtrum, Anteverted nares, Renal insufficiency, Splenomegaly,...	OMIM:251290
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormality of the dentition, Small hand, Carious teeth, Microretrognathia, Hypopl...	ORPHA:1786
1Q44 Microdeletion Syndrome	Horseshoe kidney, Intestinal malrotation, Micrognathia, Vesicoureteral reflux, Exaggerated cupid'...	ORPHA:238769
Renal-Hepatic-Pancreatic Dysplasia 2	Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Hepatic cysts, Truncu...	OMIM:615415
Congenital Myopathy 17	Renal hypoplasia, Dental malocclusion, Long philtrum, Ureteropelvic junction obstruction, Tented ...	OMIM:618975
Marden-Walker Syndrome	High, narrow palate, Renal hypoplasia, Joint contracture of the hand, Congenital contracture, Lon...	OMIM:248700
Hyperphosphatasia-Intellectual Disability Syndrome	Wide nasal bridge, Bifid uvula, Downturned corners of mouth, Anteriorly placed anus, Supernumerar...	ORPHA:247262
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Clitoral hypertrophy, Carious teeth, Diastema, Intestinal malrotation, An...	OMIM:244450
Caudal Duplication Anomaly	Ureteral duplication, Uterus didelphys	OMIM:607864
Desmosterolosis	Total anomalous pulmonary venous return, Hypoplastic nasal bridge, Joint contracture of the hand,...	OMIM:602398
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Pulmonary fibrosis	OMIM:620365
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxyisobutyric acid level, Depressed nasal bridge, Elevated urinary 3-hydro...	OMIM:614105
Congenital Disorder Of Glycosylation, Type Iu	Congenital contracture, Micrognathia, Thin upper lip vermilion, High palate, Short nose	OMIM:615042
Oculodentodigital Dysplasia	Carious teeth, Micrognathia, Ventricular septal defect, Short hallux, Non-midline cleft of the up...	ORPHA:2710
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Short toe, Micrognathia, Narrow mouth, Limb undergrowth, Short nose, Short foo...	OMIM:614078
Thiamine-Responsive Megaloblastic Anemia Syndrome	Stroke, Atrial septal defect, Ventricular septal defect	ORPHA:49827
Chromosome 6Pter-P24 Deletion Syndrome	Depressed nasal bridge, Dental crowding, Cleft upper lip, Tetralogy of Fallot, Abnormal dental mo...	OMIM:612582
Chromosome 16P13.3 Duplication Syndrome	Micrognathia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Small thenar emine...	OMIM:613458
Giant Cell Arteritis	Vasculitis, Epistaxis, Aortic dissection, Double outlet right ventricle with subpulmonary ventric...	ORPHA:397
Heart And Brain Malformation Syndrome	Interrupted aortic arch, Depressed nasal bridge, Wide nasal bridge, High, narrow palate, Cleft li...	OMIM:616920
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Colon cancer, Burkitt lymphoma, Myelodysplasia, Prostate cancer, Nephroblastoma, Hodgkin lymphoma...	ORPHA:158057
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Lower limb muscle weakness, Rhabdomyolysis, Skeletal myopathy, Left ventricular h...	ORPHA:746
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Abnormality of neuronal migration, Abnormal periventricular white matter morphology	OMIM:608840
Al Kaissi Syndrome	Wide nasal bridge, Depressed nasal bridge, High, narrow palate, Broad nasal tip, Small hand, Long...	OMIM:617694
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Choanal atresia, Bifid uvula, Retrognathia, Bilateral cryptorchidism, Prominent nasal bridge, Ven...	OMIM:300472
Cancer-Associated Retinopathy	Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino...	ORPHA:71505
Noonan Syndrome 13	Wide nasal bridge, Long philtrum, Widely spaced teeth, Anteverted nares, Micrognathia, Cryptorchi...	OMIM:619087
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Dilatation of the cerebral artery, Renal cyst	OMIM:174050
Mycophenolate Mofetil Embryopathy	Tessier cleft, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal defect, Coarctat...	ORPHA:268249
Omodysplasia 1	Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Short tibia, Long philtrum, Micrognathia, ...	OMIM:258315
Thrombocytopenia 11 With Multiple Congenital Anomalies And Dysmorphic Facies	Ventricular hypertrophy, Aortic root aneurysm, Micrognathia, Open mouth, Ventricular septal defec...	OMIM:620654
Thauvin-Robinet-Faivre Syndrome	Bifid ureter, Thick vermilion border, Mitral valve prolapse, Ventricular septal defect, Nephrobla...	OMIM:617107
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Abnormality of the dentition, Micrognathia, Recurrent sinusitis, Atrial septal defect, High palat...	OMIM:618282
Delpire-Mcneill Syndrome	Tracheoesophageal fistula, Ventricular septal defect	OMIM:619083
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Verrucae, Squamous cell carcinoma of the vulva, Recurrent sinusitis, Squamous cell car...	ORPHA:217390
Toriello-Carey Syndrome	Cardiomyopathy, Anteriorly placed anus, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Abnorm...	ORPHA:3338
Alkuraya-Kucinskas Syndrome	Small scrotum, Depressed nasal bridge, Anteverted nares, Micrognathia, Camptodactyly, Micropenis,...	OMIM:617822
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Choanal atresia, Depressed nasal bridge, Long philtrum, Malar flattening, Abnormal renal morpholo...	OMIM:207410
Adenine Phosphoribosyltransferase Deficiency	Oliguria, Urolithiasis, Renal insufficiency, 2,8-dihydroxyadenine crystalluria, Nephrolithiasis, ...	OMIM:614723
Diaphanospondylodysostosis	Depressed nasal ridge, Depressed nasal bridge, Nephroblastomatosis, Horseshoe kidney, Nephrogenic...	OMIM:608022
Short-Rib Thoracic Dysplasia 12	Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Hepatomegaly, Short foot, Patent du...	OMIM:269860
Mucolipidosis Type Ii	Depressed nasal bridge, Cardiomyopathy, Hepatosplenomegaly, Gingival overgrowth, Diastasis recti,...	ORPHA:576
Oncogenic Osteomalacia	Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon...	ORPHA:352540
Walker-Warburg Syndrome	Abnormal cortical gyration, Polymicrogyria, Absent septum pellucidum, Agenesis of corpus callosum...	ORPHA:899
Greig Cephalopolysyndactyly Syndrome	Wide nasal bridge, Joint contracture of the hand, Abnormal heart morphology, Cryptorchidism, Camp...	OMIM:175700
Atrial Septal Defect 8	Atrial septal defect, Anomalous pulmonary venous return	OMIM:614433
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Anosmia, Short distal phalanx of finger, Hypoplasia of the zygomatic bone, Bifid scrotum, Thin up...	ORPHA:1295
Wiedemann-Steiner Syndrome	Wide nasal bridge, Short 5th finger, Small hand, Broad nasal tip, Short toe, Long philtrum, Short...	OMIM:605130
Alzahrani-Kuwahara Syndrome	Coronary sinus enlargement, Long philtrum, Bulbous nose, Prominent nose, Micrognathia, Patent for...	OMIM:619268
Autosomal Recessive Spondylocostal Dysostosis	Depressed nasal bridge, Long philtrum, Abnormal morphology of female internal genitalia, Camptoda...	ORPHA:2311
Renpenning Syndrome 1	Joint contracture of the hand, Micrognathia, Narrow mouth, Ventricular septal defect, Atrial sept...	OMIM:309500
Holt-Oram Syndrome	Hypoplastic left heart, Aplasia/Hypoplasia of the radius, Absent thumb, Atrioventricular canal de...	ORPHA:392
Fabry Disease	Nephropathy, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Transient ischemic attack, R...	ORPHA:324
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Occipital encephalocele, Polymicrogyria, Type II lissencephal...	ORPHA:370959
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Depressed nasal bridge, Hemiatrophy of upper limb, Oligosacchariduria, Downturned corners of mout...	ORPHA:163649
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Arima Syndrome	Nephronophthisis, Stage 5 chronic kidney disease, Wide mouth, Renal sodium wasting, Hematuria, Pr...	OMIM:243910
2P15P16.1 Microdeletion Syndrome	Wide nasal bridge, Multicystic kidney dysplasia, Retrognathia, Long philtrum, Supernumerary nippl...	ORPHA:261349
Microgastria-Limb Reduction Defect Syndrome	Multicystic kidney dysplasia, Esophagitis, Amelia, Perineal fistula, Renal hypoplasia/aplasia, At...	ORPHA:2538
Restrictive Dermopathy	Choanal atresia, Microcolon, Natal tooth, Aplasia/Hypoplasia involving the nose, Arthrogryposis m...	ORPHA:1662
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia, Thick corpus callosum	OMIM:618273
Fanconi Anemia, Complementation Group B	Bilateral radial aplasia, Absent thumb, Renal agenesis, Duodenal atresia, Hypogonadism, Ventricul...	OMIM:300514
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Homocystinuria, Methylmalonic aciduria, Micrognathia, Cryptorchidism, Coarctation of aorta, Atria...	OMIM:614857
Noonan Syndrome 5	Depressed nasal bridge, Mandibular prognathia, Hypertrophic cardiomyopathy, Cryptorchidism, Atria...	OMIM:611553
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Microcephaly	OMIM:618010
Glycogen Storage Disease Due To Acid Maltase Deficiency	Vasculitis, Oligosacchariduria, Lower limb muscle weakness, Hypertrophic cardiomyopathy, Dilatati...	ORPHA:365
Diamond-Blackfan Anemia 5	Hypospadias, Ventricular septal defect	OMIM:612528
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Type II lissencephaly, Agenesis of corpus callosum, Microcephaly, Progressive microcephaly, Hydro...	OMIM:615249
Fanconi Anemia, Complementation Group N	Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Nephroblastoma, Ventricul...	OMIM:610832
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Depressed nasal bridge, Secundum atrial septal defect, Bicuspid aortic valve, Chalazion, Patent d...	OMIM:613355
Chromosome 6Q24-Q25 Deletion Syndrome	High, narrow palate, Small hand, Right ventricular dilatation, Long philtrum, Anteriorly placed a...	OMIM:612863
Dextrocardia	Meckel diverticulum, Pancreatic hypoplasia, Abnormal heart morphology, Abnormality of the ureter,...	ORPHA:1666
Stromme Syndrome	Wide nasal bridge, Bilateral renal hypoplasia, Intestinal malrotation, Short columella, Prominent...	OMIM:243605
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Wide nasal bridge, Hypertrophic cardiomyopathy, Anteverted nares, Micrognathia, Narrow mouth, Hep...	OMIM:618810
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Reduced cerebral white matter volume, Cerebral atrophy, Polymicrogyria, Hypoplasia of the corpus ...	OMIM:620156
Omodysplasia 2	Wide nasal bridge, Bifid nasal tip, Depressed nasal bridge, Short 1st metacarpal, Uterus didelphy...	OMIM:164745
Car T Cell Therapy-Associated Cytokine Release Syndrome	Pulmonary edema, Pleural effusion, Respiratory failure	ORPHA:542323
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Choanal atresia, Intestinal malrotation, Renal duplication, Ureteral duplication, Anal atresia, R...	OMIM:270420
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Hypospadias, Cryptorchidism, Short nose	OMIM:616910
Pulmonary Alveolar Microlithiasis	Bronchitis, Interlobular septal thickening, Subpleural interstitial thickening, Respiratory insuf...	ORPHA:60025
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Dysgenesis of the basal gangl...	OMIM:600638
Bone Dysplasia, Lethal Holmgren Type	Depressed nasal ridge, Rhizomelia, Micromelia, Hypertrophic cardiomyopathy, Anteverted nares, Sho...	ORPHA:1842
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Arthrogryposis multiplex congenita, Long philtrum, Intestinal malrotation, Sho...	OMIM:601776
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Retrognathia, Bulbous nose, Thick vermilion border, Patent foramen ovale, Ventricular septal defe...	OMIM:620113
Mosaic Trisomy 20	Craniofacial asymmetry, Cleft lip, Retrognathia, Horseshoe kidney, Micrognathia, Cryptorchidism, ...	ORPHA:1724
Shashi-Pena Syndrome	Unilateral renal agenesis, Broad nasal tip, Dilation of Virchow-Robin spaces, Retrognathia, Thin ...	OMIM:617190
Diaphanospondylodysostosis	Missing ribs, Multiple renal cysts, Cleft palate	ORPHA:66637
Hajdu-Cheney Syndrome	Aortic valve stenosis, Periodontitis, Open bite, Micrognathia, Narrow mouth, Ventricular septal d...	ORPHA:955
Cutis Laxa, Autosomal Recessive, Type Iic	Narrow naris, Biventricular hypertrophy, Narrow mouth, Mitral valve prolapse, Atrial septal defec...	OMIM:617402
Ruvalcaba Syndrome	Small hand, Dental crowding, Micromelia, Narrow mouth, Cryptorchidism, Hematuria, Convex nasal ri...	ORPHA:3121
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Bifid uvula, Downturned corners of mouth, Retrognathia, Ventricular septa...	OMIM:301030
Aredyld Syndrome	Craniofacial hyperostosis, Abnormal dental enamel morphology, Abnormality of the ureter, Narrow m...	ORPHA:1133
Autosomal Recessive Polycystic Kidney Disease	Depressed nasal ridge, Acute kidney injury, Oliguria, Protein-losing enteropathy, Recurrent urina...	ORPHA:731
Peutz-Jeghers Syndrome	Nasal polyposis, Abnormality of the nose, Pancreatic adenocarcinoma, Abnormality of the ureter, N...	ORPHA:2869
Cooper-Jabs Syndrome	Anteriorly placed anus, Camptodactyly of finger, Anteverted nares, Congenital diaphragmatic herni...	ORPHA:1488
Odontochondrodysplasia	Depressed nasal bridge, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Micro...	ORPHA:166272
Atrial Septal Defect 6	Atrial septal defect	OMIM:613087
Fg Syndrome Type 1	Micrognathia, Open mouth, Cryptorchidism, Mitral valve prolapse, Progressive flexion contractures...	ORPHA:93932
Hepatic Veno-Occlusive Disease	Respiratory failure	ORPHA:890
Alazami Syndrome	Widely spaced teeth, Malar flattening, Atrial septal defect, Thick vermilion border, Short philtr...	ORPHA:319671
Sweeney-Cox Syndrome	Wide nasal bridge, Choanal atresia, Short distal phalanx of finger, Broad nasal tip, Velopharynge...	OMIM:617746
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Aortic valve stenosis, Hypoplastic left heart, Mitral atresia, Bulbous nose, Anteverted nares, Ve...	OMIM:618164
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Wide nasal bridge, Conical tooth, Delayed eruption of teeth, Supernumerary nipple, Widely spaced ...	ORPHA:1071
Ellis-Van Creveld Syndrome	Natal tooth, Delayed eruption of teeth, Cleft upper lip, Cryptorchidism, Short ribs, Hypodontia, ...	OMIM:225500
Pericardial And Diaphragmatic Defect	Meckel diverticulum, Abnormal heart morphology, Partial diaphragmatic absence of pericardium, Tet...	ORPHA:2847
Bartsocas-Papas Syndrome 1	Hypoplastic scapulae, Micrognathia, Hypoplastic labia majora, Absent radius, Anal atresia, Ectopi...	OMIM:263650
Microphthalmia With Limb Anomalies	Flared nostrils, Depressed nasal bridge, Finger aplasia, Camptodactyly of 2nd-5th fingers, Cleft ...	OMIM:206920
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Absent middle phalanx of 5th finger, Hepatosplenomegaly, Micrognathia, Hepatomegaly, High palate,...	OMIM:266920
Distal Duplication 17Q	Depressed nasal bridge, Rhizomelia, Abnormal heart morphology, Short columella, Micrognathia, Ves...	ORPHA:3379
Zttk Syndrome	Small hand, Absent gallbladder, Narrow mouth, Ventricular septal defect, Atrial septal defect, Hi...	OMIM:617140
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hypoplastic facial bones, Renal hypoplasia, Cleft lip, Natal tooth, Short tibia, Rhizomelia, Micr...	OMIM:616300
Congenital Muscular Dystrophy Without Intellectual Disability	Pachygyria, Microcephaly, Gray matter heterotopia, Abnormal cerebral white matter morphology	ORPHA:370980
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Micrognathia, Cryptorchidism, Atrial septal defect, Torticollis, Aplasia/hypoplasia of the femur,...	OMIM:609945
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Recurrent respiratory infections, Respiratory failure	ORPHA:98905
3-Methylglutaconic Aciduria Type 7	Pneumothorax, Respiratory failure	ORPHA:445038
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Polycystic kidney dysplasia	OMIM:600273
Peroxisome Biogenesis Disorder 11A (Zellweger)	Depressed nasal bridge, Renal cyst, Anteverted nares, Multiple renal cysts	OMIM:614883
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Hypoplastic left heart, Intestinal malrotation, Micrognathia, Abnormal aortic morphology, Bilater...	ORPHA:2001
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Atelectasis, Respiratory insufficiency, Intercostal muscle weakness, Recurrent lower respiratory ...	ORPHA:258
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Micrognathia, Ventricular septal defect, Short hard palate, Glossop...	ORPHA:1393
Restrictive Dermopathy 1	Choanal atresia, Depressed nasal bridge, Natal tooth, Temporomandibular joint ankylosis, Microgna...	OMIM:275210
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Unilateral renal agenesis, Renal agenesis, Cleft upper lip, Azoospermia, Micrognathia, Hypoplasia...	OMIM:601076
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Small hand, Hypoplasia of the maxilla, Bulbous nose, Prominent nasal bridge, V...	OMIM:609460
Costello Syndrome	Depressed nasal bridge, Abnormality of the dentition, Thick lower lip vermilion, Hypertrophic car...	ORPHA:3071
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Renal hypoplasia, Retrognathia, Micrognathia, Joint contracture of the 5th finger, Patent foramen...	OMIM:618914
Aarskog-Scott Syndrome	Wide nasal bridge, Short 5th finger, Elevated circulating luteinizing hormone level, Hypoplasia o...	OMIM:305400
Acrofacial Dysostosis 1, Nager Type	Velopharyngeal insufficiency, Micrognathia, Congenital diaphragmatic hernia, Ventricular septal d...	OMIM:154400
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Depressed nasal bridge, Long philtrum, Thick lower lip vermilion, Tented upper lip vermilion, Pat...	OMIM:620075
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Urolithiasis, Renal insufficiency, Cryptorchidism, Wide mouth, Hyperurico...	OMIM:300661
Baker-Gordon Syndrome	Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Short nose	OMIM:618218
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Renal dysplasia, Decreased response to growth hormone stimulation test, Mitral stenosis, Renal cy...	OMIM:617260
Distichiasis With Congenital Anomalies Of The Heart And Peripheral Vasculature	Peripheral arterial stenosis, Varicose veins, Patent ductus arteriosus, Ventricular septal defect	OMIM:126320
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Depressed nasal ridge, Abnormality of the dentition, Abnormality of the male genitalia, Volvulus,...	ORPHA:847
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Dysphagia, Respiratory failure	ORPHA:70472
Acrofacial Dysostosis, Cincinnati Type	Biventricular hypertrophy, Median pseudocleft lip, Micrognathia, Cryptorchidism, Ventricular sept...	OMIM:616462
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Ventricular septal defect, Bicuspid aortic valve, Atrial septal defect, Pa...	ORPHA:363705
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Tented upper lip vermilion, Thin upper lip vermilion, Shorten...	OMIM:615716
Paternal Uniparental Disomy Of Chromosome 6	Precocious puberty, Retrognathia, Labial hypertrophy, Prominent nose, Gingival overgrowth, Crypto...	ORPHA:96191
Riddle Syndrome	Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Bronchitis, Recurrent sinusitis, Abnormal pulm...	ORPHA:420741
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatosplenomegaly, Joint contracture of the 5th finger, Mitral valve prolapse, Ventricular septa...	OMIM:602782
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Bifid uvula, Retrognathia, Camptodactyly of finger, Atrioventricular canal defect, Bulbous nose, ...	ORPHA:3047
Silver-Russell Syndrome 1	Downturned corners of mouth, Decreased response to growth hormone stimulation test, Abnormality o...	OMIM:180860
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration, Microcephaly	ORPHA:2204
Surfactant Metabolism Dysfunction, Pulmonary, 4	Intraalveolar phospholipid accumulation	OMIM:300770
Autosomal Recessive Omodysplasia	Mesomelia, Depressed nasal bridge, Rhizomelia, Micromelia, Long philtrum, Anteverted nares, Micro...	ORPHA:93329
Combined Oxidative Phosphorylation Deficiency 11	Renal hypoplasia, Cardiomyopathy, Renal insufficiency, Renal tubular acidosis, Myopathy, Renal cy...	OMIM:614922
Myhre Syndrome	Craniofacial hyperostosis, Narrow mouth, Cryptorchidism, Hypospadias, Epispadias, Abnormal penis ...	ORPHA:2588
Peters-Plus Syndrome	Micrognathia, Short lingual frenulum, Cryptorchidism, Ventricular septal defect, Hypoplastic labi...	OMIM:261540
Macrocephaly/Autism Syndrome	Depressed nasal bridge, Dilation of Virchow-Robin spaces, Long philtrum, Penile freckling, Spleno...	OMIM:605309
Prolidase Deficiency	Depressed nasal bridge, Micrognathia, Splenomegaly, Hepatomegaly, Hyperimidodipeptiduria, Concave...	OMIM:170100
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Depressed nasal bridge, Decreased response to growth hormone stimulation test, Cryptorchidism, Hy...	OMIM:614732
Isotretinoin Embryopathy-Like Syndrome	Micrognathia, Conotruncal defect, Cleft palate	OMIM:243440
Digeorge Syndrome	Micrognathia, Ovarian cyst, Ventricular septal defect, High palate, Renal dysplasia, Patent ductu...	OMIM:188400
Neurocardiofaciodigital Syndrome	Retrognathia, Tetralogy of Fallot, Vesicoureteral reflux, Atrial septal defect, High palate, Over...	OMIM:619869
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Ventricular septal defect, Short hallux, Abnormality of the kidney, ...	ORPHA:508488
Distal Limb Deficiencies-Micrognathia Syndrome	Renal hypoplasia, Microglossia, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Micr...	ORPHA:1307
Webb-Dattani Syndrome	Retrognathia, Decreased response to growth hormone stimulation test, Vesicoureteral reflux, Crypt...	OMIM:615926
Double Outlet Left Ventricle	Cryptorchidism, Ventricular septal defect, Cardiomegaly, Pulmonary artery stenosis, Bicuspid pulm...	ORPHA:3427
Intellectual Developmental Disorder, X-Linked 30	Thick upper lip vermilion, Anteverted nares, Prominent nasal bridge, Open mouth, Thin upper lip v...	OMIM:300558
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Mosaic Variegated Aneuploidy Syndrome	Depressed nasal ridge, Multicystic kidney dysplasia, Muscular dystrophy, Colon cancer, Vaginal ne...	ORPHA:1052
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Unilateral renal agenesis, Secundum atrial septal defect, Retrognathia, Vascular tortuosity, Long...	ORPHA:99646
Distal Deletion 6P	Depressed nasal bridge, Abnormality of the dentition, Downturned corners of mouth, Underdeveloped...	ORPHA:96125
Tetrasomy 12P	Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick upper lip vermilion,...	ORPHA:884
Neurodevelopmental Disorder With Language Delay And Seizures	Cryptorchidism, Ventricular septal defect	OMIM:619908
Amish Lethal Microcephaly	Death in infancy, Agenesis of corpus callosum, Microcephaly, Spina bifida, Lissencephaly	ORPHA:99742
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Unilateral renal agenesis, Hypoplasia of the maxilla, Cleft upper lip, Supernu...	OMIM:213980
Phosphoribosylaminoimidazole Carboxylase Deficiency	Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Bilateral cryptorchidism, Ant...	OMIM:619859
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Ventricular hypertrophy, Epistaxis, Adrenal hyperplasia, Nephrolithiasis, Ventricular septal defe...	ORPHA:369929
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypospadias, Abnormal localization of kidney, Hypoplasia of the premaxilla, Intestinal malrotatio...	ORPHA:2166
Tatton-Brown-Rahman Syndrome	Mandibular prognathia, Aortic root aneurysm, Short toe, Short columella, Cryptorchidism, Deep phi...	ORPHA:404443
Intellectual Developmental Disorder, Autosomal Dominant 1	Depressed nasal ridge, Mandibular prognathia, Downturned corners of mouth, Retrognathia, Widely s...	OMIM:156200
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Dysphagia, Respiratory failure	OMIM:613954
Contractural Arachnodactyly, Congenital	Calf muscle hypoplasia, Aortic root aneurysm, Elbow flexion contracture, Micrognathia, Mitral val...	OMIM:121050
Ulnar-Mammary Syndrome	Short distal phalanx of finger, Renal hypoplasia, Abnormality of the uterus, Camptodactyly of fin...	ORPHA:3138
Igg4-Related Aortitis	Abnormal aortic arch morphology, Aortic dissection, Abnormal common carotid artery morphology, In...	ORPHA:449400
Fraser Syndrome 2	Unilateral renal agenesis, Renal hypoplasia, Renal agenesis, Bilateral renal agenesis, Aplasia of...	OMIM:617666
Edinburgh Malformation Syndrome	Choanal atresia, Downturned corners of mouth, Anteverted nares, Micrognathia, Narrow mouth, Thin ...	ORPHA:1895
Gabriele-De Vries Syndrome	Abnormality of the dentition, Thick lower lip vermilion, Decreased response to growth hormone sti...	ORPHA:506358
Nphp3-Related Meckel-Like Syndrome	Intestinal malrotation, Multicystic kidney dysplasia, Renal dysplasia	ORPHA:3032
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Dysphagia, Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Vesicoureteral reflux, Smooth philt...	OMIM:618828
Junctional Epidermolysis Bullosa With Pyloric Atresia	Ureterocele, Urinary bladder inflammation, Aplasia of the bladder, Congenital pyloric atresia, Re...	ORPHA:79403
Bardet-Biedl Syndrome	Chronic kidney disease, Inflammation of the large intestine, Hydrometrocolpos, Cryptorchidism, Po...	ORPHA:110
Catel-Manzke Syndrome	Narrow naris, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect, Overriding a...	OMIM:616145
Distal 22Q11.2 Microduplication Syndrome	Unilateral renal agenesis, Depressed nasal ridge, Long philtrum, Camptodactyly of finger, Bulbous...	ORPHA:261337
Poland Syndrome	Renal hypoplasia, Small hand, Aplasia/Hypoplasia of the radius, Ureterocele, Aplasia/Hypoplasia o...	ORPHA:2911
Ferguson-Bonni Neurodevelopmental Syndrome	Micrognathia, Congenital diaphragmatic hernia, Patent foramen ovale, Coronary-pulmonary artery fi...	OMIM:619699
Macrocephaly-Intellectual Disability-Autism Syndrome	Depressed nasal bridge, Penile freckling, Intestinal polyposis, Lymphoid nodular hyperplasia, Sho...	ORPHA:210548
Koolen-De Vries Syndrome Due To A Point Mutation	Pear-shaped nose, Cryptorchidism, Open mouth, Ventricular septal defect, Hand muscle atrophy, Bic...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Pear-shaped nose, Cryptorchidism, Open mouth, Ventricular septal defect, Hand muscle atrophy, Bic...	ORPHA:363958
Autosomal Dominant Progressive External Ophthalmoplegia	Dilated cardiomyopathy, Quadriceps muscle weakness, Goiter, Shoulder girdle muscle weakness, Limb...	ORPHA:254892
Schinzel-Giedion Syndrome	Abnormality of the ureter, Streak ovary, Micrognathia, High palate, Hypospadias, Short nose, Broa...	ORPHA:798
17Q12 Microduplication Syndrome	Tracheoesophageal fistula, Atrial septal defect, Cleft palate	ORPHA:261272
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Abnormal palate morphology, Microretrognathia, Long philtrum, Short nose	ORPHA:1389
Distal Xq28 Microduplication Syndrome	Epistaxis, Recurrent upper respiratory tract infections, Broad nasal tip, Dental crowding, Hypopl...	ORPHA:293939
7Q31 Microdeletion Syndrome	Enuresis nocturna, Galactosuria, Hypoplasia of the maxilla, Skeletal muscle atrophy, Long philtru...	ORPHA:251061
Melnick-Needles Syndrome	Tooth malposition, Hypoplastic scapulae, Short distal phalanx of finger, Delayed eruption of teet...	OMIM:309350
Thoracoabdominal Syndrome	Renal agenesis, Cleft upper lip, Congenital diaphragmatic hernia, Transposition of the great arte...	OMIM:313850
Mayer-Rokitansky-Küster-Hauser Syndrome	Ectopic ovary, Unilateral renal agenesis, Horseshoe kidney, Aplasia of the ovary, Endometriosis, ...	ORPHA:3109
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Wide nasal bridge, Small scrotum, Abnormality of the dentition, Carious teeth, Hypoplasia of the ...	ORPHA:3253
Johnson Neuroectodermal Syndrome	Choanal atresia, Anosmia, Carious teeth, Tetralogy of Fallot, Bulbous nose, Hypogonadism, Everted...	ORPHA:2316
Thanatophoric Dysplasia	Depressed nasal bridge, Micromelia, Atrial septal defect, Abnormality of the kidney, Patent ductu...	ORPHA:2655
Hypoplastic Left Heart Syndrome	Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Hypoplastic aortic...	ORPHA:2248
Orofaciodigital Syndrome Type 4	Aplasia/Hypoplasia of the tibia, Micrognathia, Perineal fistula, Renal hypoplasia/aplasia, Rectal...	ORPHA:2753
Mandibuloacral Dysplasia With Type B Lipodystrophy	Dental crowding, Flexion contracture, Stage 5 chronic kidney disease, Narrow mouth, Micrognathia,...	OMIM:608612
Loeys-Dietz Syndrome 5	Bifid uvula, Aortic root aneurysm, Retrognathia, Decreased muscle mass, Prominent nasal bridge, C...	OMIM:615582
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Micromelia, Atrial septal defect, Abnormality of the kidney, Patent ductu...	ORPHA:93274
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Aortic valve stenosis, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ventricular sept...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Aortic valve stenosis, Carious teeth, Natal tooth, Micrognathia, Cryptorchidism, Ventricular sept...	ORPHA:353277
Warburg Micro Syndrome 3	Small scrotum, Downturned corners of mouth, Decreased muscle mass, Decreased testicular size, Mic...	OMIM:614222
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Joint contracture of the...	OMIM:608156
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Atelectasis, Respiratory insufficiency, Death in childhood, Recurrent respiratory infections, Pul...	OMIM:618278
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Microcephaly, Agenesis of corpus callosum	ORPHA:1496
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	Abnormality of the ureter, Abnormal dental morphology, Micrognathia, Malar prominence, Convex nas...	ORPHA:2522
Acrodysostosis	Wide nasal bridge, Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Dela...	ORPHA:950
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Thin upper lip vermilion, ...	OMIM:613443
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia	Bicuspid aortic valve, Atrial septal defect	OMIM:617744
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Respiratory insufficiency	OMIM:615330
Criss-Cross Heart	Mitral stenosis, Abnormal mitral valve morphology, Ventricular septal defect, Transposition of th...	ORPHA:1461
Coach Syndrome 1	Unilateral renal agenesis, Nephronophthisis, Multiple small medullary renal cysts, Anteverted nar...	OMIM:216360
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Choanal atresia, Short distal phalanx of finger, Underdeveloped nasal alae, ...	ORPHA:261330
Cenani-Lenz Syndrome	High, narrow palate, Short thumb, Micromelia, Abnormal dental enamel morphology, Foot oligodactyl...	ORPHA:3258
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Underdeveloped nasal alae, Micrognathia, Mitral valve prolapse, Short philtrum, Atrial septal def...	OMIM:300986
Smith-Kingsmore Syndrome	Depressed nasal bridge, Short distal phalanx of finger, Rhizomelia, Long philtrum, Open mouth, Cr...	OMIM:616638
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	Depressed nasal bridge, Dilated cardiomyopathy, Cleft lip, Myofiber disarray, Patent foramen oval...	OMIM:620519
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Hypoplastic left heart, Long philtrum, Bicuspid aortic valve, Atrial septal defect, Low hanging c...	OMIM:619721
Endove Syndrome, Limb-Only Type	Aplasia of the distal phalanges of the toes, Vesicoureteral reflux, Short middle phalanx of the 2...	OMIM:619217
2Q37 Microdeletion Syndrome	Depressed nasal bridge, Multicystic kidney dysplasia, Small hand, Broad columella, Underdeveloped...	ORPHA:1001
Attenuated Familial Adenomatous Polyposis	Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,...	ORPHA:220460
Large Congenital Melanocytic Nevus	Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Sarcoma, Rhabdomyosarcoma	ORPHA:626
Radio-Renal Syndrome	High, narrow palate, Depressed nasal bridge, Multicystic kidney dysplasia, Renal agenesis, Downtu...	ORPHA:3015
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Narrow palate, Retrognathia, Long philtrum, Wide mouth, Narrow mouth, Microgna...	OMIM:620250
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Short distal phalanx of finger, Short thumb, Atrioventricular canal defect, Congenital diaphragma...	ORPHA:1120
Pulmonary Alveolar Proteinosis, Acquired	Pneumonia, Recurrent respiratory infections, Intraalveolar phospholipid accumulation, Lung abscess	OMIM:610910
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Multicystic kidney dysplasia, Abnormal right ventricle morphology, Bifid ureter, Thick vermilion ...	ORPHA:500095
Achondrogenesis Type 1A	Micromelia, Long philtrum, Anteverted nares, Micrognathia, Short palm, Short foot, Short nose	ORPHA:93299
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Abnormal dental pulp morphology, Long philtrum, Abnormal heart morphology, Hypertrophic cardiomyo...	ORPHA:363700
Microphthalmia, Syndromic 1	High, narrow palate, Tooth malposition, Renal hypoplasia, Joint contracture of the hand, Hydroure...	OMIM:309800
Warsaw Breakage Syndrome	Tetralogy of Fallot, High palate, Wide mouth, Ventricular septal defect	OMIM:613398
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Recurrent upper respiratory tract infections, Retrognathia, Anteverted na...	OMIM:614069
Immunodeficiency 89 And Autoimmunity	Recurrent lower respiratory tract infections, Pulmonary bulla, Bronchiectasis, Pleural thickening	OMIM:619632
Orotic Aciduria	Oroticaciduria, Ventricular septal defect, Hematuria, Atrial septal defect, Orotic acid crystalluria	OMIM:258900
Fraser Syndrome 3	Small scrotum, Hypoplasia of the bladder, Bilateral renal agenesis, Short toe, Ureteral agenesis,...	OMIM:617667
Multiple Pterygium Syndrome, X-Linked	Depressed nasal ridge, Cleft upper lip, Short finger, Hypoplastic heart, Amyoplasia, Micrognathia...	OMIM:312150
Arthrogryposis, Distal, Type 2A	Joint contracture of the hand, Pursed lips, Narrow mouth, Cryptorchidism, Hip contracture, Flexio...	OMIM:193700
Hypogonadotropic Hypogonadism 9 With Or Without Anosmia	Anosmia, Cleft lip, Decreased testicular size, Hypogonadotropic hypogonadism, Bifid nose, Micrope...	OMIM:614838
White-Sutton Syndrome	Depressed nasal bridge, Bifid uvula, Broad nasal tip, Hypoplastic cervical vertebrae, Downturned ...	OMIM:616364
16Q24.3 Microdeletion Syndrome	Dilated cardiomyopathy, Long philtrum, Anteverted nares, Micrognathia, Cryptorchidism, Ventricula...	ORPHA:261250
Epidermolysis Bullosa Simplex With Pyloric Atresia	Muscular dystrophy, Abnormality of the urinary system, Abnormality of the urethra, Ureterocele, A...	ORPHA:158684
Rhizomelic Chondrodysplasia Punctata, Type 2	Wide nasal bridge, Depressed nasal bridge, Rhizomelia, Tetralogy of Fallot, Anteverted nares, Mic...	OMIM:222765
Trisomy 8Q	Wide nasal bridge, Camptodactyly of finger, Micrognathia, Cryptorchidism, Displacement of the ure...	ORPHA:1752
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Wide nasal bridge, Anteverted nares, Cleft soft palate, Micrognathia, Cryptorchidism, Submucous c...	ORPHA:2282
Campomelic Dysplasia	Small abnormally formed scapulae, Depressed nasal bridge, 11 pairs of ribs, Micrognathia, Abnorma...	ORPHA:140
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Wide nasal bridge, Downturned corners of mouth, Thick upper lip vermilion, Bulbous nose, Prominen...	OMIM:617360
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dyspl...	ORPHA:488627
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Tented philtrum, Retrognathia, Bifid scrotum, Antevert...	ORPHA:363659
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Depressed nasal bridge, Retrognathia, Anteverted nares, Open mouth, Diastasis recti, Exaggerated ...	ORPHA:254528
Vacterl Association With Hydrocephalus	Stillbirth, Respiratory failure, Respiratory insufficiency	OMIM:276950
Klippel-Trénaunay Syndrome	Abnormal tricuspid valve morphology, Venous insufficiency, Hematuria, Atrial septal defect, Hepat...	ORPHA:90308
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Small hand, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Sho...	OMIM:301044
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Small hand, Aortic root aneurysm, Micrognathia, Ventricular septal defect, High palate, Hypospadi...	ORPHA:444077
Harrod Syndrome	Multicystic kidney dysplasia, Dental malocclusion, Narrow mouth, Cryptorchidism, Long nose, High ...	ORPHA:2115
Autosomal Recessive Cutis Laxa Type 2A	Secondary microcephaly, Dysplastic corpus callosum, Primary microcephaly, Pachygyria, Thick cereb...	ORPHA:357058
Congenital Rubella Syndrome	Splenomegaly, Ventricular septal defect, Atrial septal defect, Hepatomegaly, Patent ductus arteri...	ORPHA:290
Beck-Fahrner Syndrome	Long philtrum, Open mouth, Ventricular septal defect, Cardiomegaly, Facial hypotonia, High palate	OMIM:618798
Achondrogenesis	Micromelia, Long philtrum, Anteverted nares, Micrognathia, Short nose	ORPHA:932
Microphthalmia, Syndromic 11	Agenesis of corpus callosum	OMIM:614402
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Respiratory failure	ORPHA:168486
Fanconi Anemia, Complementation Group F	Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Duodenal atresia, Decreased response t...	OMIM:603467
Meckel Syndrome, Type 10	Bifid uvula, Renal cyst, Camptodactyly, Micropenis, Hypospadias, Cleft palate	OMIM:614175
Difference Of Sex Development-Intellectual Disability Syndrome	Small scrotum, Downturned corners of mouth, Hypogonadism, Short philtrum, Thin vermilion border, ...	ORPHA:2983
Achondrogenesis Type 1B	Micromelia, Long philtrum, Anteverted nares, Micrognathia, Short foot, Short nose	ORPHA:93298
Antley-Bixler Syndrome	Choanal atresia, Hypoplasia of the zygomatic bone, Long philtrum, Camptodactyly of finger, Anteve...	ORPHA:83
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Wide nasal bridge, Ketonuria, Bilateral superior vena cava, Anteriorly placed anus, Hypertrophic ...	OMIM:220111
Chromosome 13Q14 Deletion Syndrome	Supernumerary nipple, Bulbous nose, Micrognathia, Cryptorchidism, Patent foramen ovale, Ventricul...	OMIM:613884
Hereditary Xanthinuria	Decreased urinary urate, Acute kidney injury, Recurrent urinary tract infections, Increased urina...	ORPHA:3467
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Nager Syndrome	Unilateral renal agenesis, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the radius, Hypoplasi...	ORPHA:245
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Everted upper lip vermilion, Retrognathia, Anteverted nares, Hepatospleno...	OMIM:608013
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis	ORPHA:140976
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:618321
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Wide nasal base, Flared nostrils, Tooth malposition, Small hand, Atrial septal defect, High palat...	ORPHA:480880
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Dysphagia, Respiratory failure	OMIM:606612
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst, Vascular dil...	OMIM:617056
Cystic Echinococcosis	Abnormality of the testis size, Abnormal heart morphology, Hepatic cysts, Ovarian cyst, Renal cys...	ORPHA:400
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Hypoplastic left heart, Abnormal aortic arch morphology, Arteria lusoria, Abnormal descending aor...	ORPHA:99050
X-Linked Intellectual Disability, Armfield Type	Aminoaciduria, Galactosuria, Depressed nasal bridge, Small hand, Mandibular prognathia, Organic a...	ORPHA:85276
1P36 Deletion Syndrome	Abnormal female external genitalia morphology, Narrow mouth, Cryptorchidism, Myopathy, Abnormal i...	ORPHA:1606
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Hydronephrosis, High palate, Limb hypertonia, Cleft palate	ORPHA:488613
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Retrognathia, Long philtrum, Diastema, Macrodontia, Prominent nasal bridge...	OMIM:212066
Hypouricemia, Renal, 1	Acute kidney injury, Oliguria, Renal cortical hyperechogenicity, Urolithiasis, Proteinuria, Hyper...	OMIM:220150
Charge Syndrome	Narrow mouth, Cryptorchidism, Patent ductus arteriosus, Choanal atresia, Abnormal morphology of f...	ORPHA:138
Congenital Disorder Of Glycosylation, Type Ig	Small scrotum, Recurrent upper respiratory tract infections, Rhizomelia, Short tibia, Cryptorchid...	OMIM:607143
Microcephaly 20, Primary, Autosomal Recessive	Small cerebral cortex, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcepha...	OMIM:617914
Atrial Septal Defect, Ostium Primum Type	Pulmonary artery dilatation, Left atrial enlargement, Left ventricular hypertrophy, Right atrial ...	ORPHA:99106
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii	Precocious puberty, Wide nasal bridge, Abnormal cerebral vascular morphology, Underdeveloped nasa...	ORPHA:2637
17Q23.1Q23.2 Microdeletion Syndrome	Depressed nasal bridge, Congenital contracture, Patellar hypoplasia, Widely spaced teeth, Bulbous...	ORPHA:261279
Cowden Syndrome 1	Thyroid adenoma, Subcutaneous lipoma, Meningioma, Fibroadenoma of the breast, Ovarian carcinoma, ...	OMIM:158350
Geleophysic Dysplasia 2	Aortic valve stenosis, Long philtrum, Mitral stenosis, Mitral valve prolapse, Thin upper lip verm...	OMIM:614185
Mucopolysaccharidosis-Plus Syndrome	Focal segmental glomerulosclerosis, Nephritis, Wide nasal bridge, Macroglossia, Hypertrophic card...	OMIM:617303
Steinfeld Syndrome	Bifid uvula, Unilateral renal dysplasia, Abnormal heart morphology, Median cleft palate, Absent g...	OMIM:184705
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Multicystic kidney dysplasia, Underdeveloped nasal alae, Anteverted nares, Renal cyst, Glossoptos...	ORPHA:2031
Cebalid Syndrome	Depressed nasal bridge, Depressed nasal ridge, Anteverted nares, Congenital diaphragmatic hernia,...	OMIM:618774
Distal Deletion 19P	Hypoplasia of the maxilla, Ventricular septal defect, Tricuspid valve prolapse, Pulmonary valve a...	ORPHA:96129
Caroli Disease	Cholelithiasis, Splenomegaly, Hepatomegaly, Polycystic kidney dysplasia, Esophageal varix	ORPHA:53035
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxill...	ORPHA:560
Bainbridge-Ropers Syndrome	Supernumerary nipple, Micrognathia, Cryptorchidism, Everted lower lip vermilion, High palate, Sho...	OMIM:615485
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hydranencephaly, Polymicrogyria, Agenesis of corpus callosum, Microcephaly, Hydrocephalus	OMIM:225790
White Forelock With Malformations	Deep philtrum, Atrial septal defect, Abnormal palate morphology	ORPHA:2475
Transposition Of The Great Arteries, Dextro-Looped	Transposition of the great arteries	OMIM:608808
Marshall-Smith Syndrome	Hypoplasia of the odontoid process, Cryptorchidism, Irregular dentition, Ventricular septal defec...	OMIM:602535
3Q29 Microduplication Syndrome	Wide nasal bridge, Abnormality of the dentition, Ventricular septal defect, Camptodactyly of toe,...	ORPHA:251038
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Aplasia of the distal phalanx of the 5th finger, Microglossia, Aplasia of ...	ORPHA:364577
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Aortic valve stenosis, Dilatation of the renal pelvis, Short 5th toe, Cleft soft palate, Cryptorc...	ORPHA:268261
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Precocious puberty, Moderate albuminuria, Dentinogenesis imperfecta, Periodontitis, Short toe, Re...	OMIM:619269
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Recurrent pneumonia, Motor stereotypy, Dysphagia, Respiratory failure, Respiratory failure requir...	ORPHA:496641
Multicystic Dysplastic Kidney	Unilateral renal agenesis, Multicystic kidney dysplasia, Ureterocele, Horseshoe kidney, Vesicoure...	ORPHA:1851
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:618186
Ureter, Bifid Or Double	Ureteral duplication	OMIM:191550
Linear Skin Defects With Multiple Congenital Anomalies 1	Clitoral hypertrophy, Colonic atresia, Anteriorly placed anus, Congenital diaphragmatic hernia, H...	OMIM:309801
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay	Hydrocele testis, Patent foramen ovale	OMIM:618832
Noonan Syndrome 2	Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic v...	OMIM:605275
Campomelic Dysplasia	Hypoplastic scapulae, Carious teeth, Hypoplastic cervical vertebrae, Contracture of the distal in...	OMIM:114290
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Pyruvate Dehydrogenase E1-Alpha Deficiency	Flexion contracture, Limb undergrowth, Abnormal medullary pyramid morphology, Ventricular septal ...	ORPHA:79243
Axenfeld-Rieger Syndrome, Type 3	Malar flattening, Microdontia, Hypodontia, Atrial septal defect, Concave nasal ridge, Patent duct...	OMIM:602482
Coronary Arterial Fistula	Aortic valve stenosis, Bacterial endocarditis, Right ventricular dilatation, Abnormal heart morph...	ORPHA:2041
Degcags Syndrome	Chronic kidney disease, Hepatosplenomegaly, Micrognathia, Cryptorchidism, Protruding tongue, Vent...	OMIM:619488
Phaver Syndrome	Depressed nasal bridge, Short thumb, Camptodactyly of finger, Ventricular septal defect, Coarctat...	ORPHA:2876
Knobloch Syndrome	Depressed nasal bridge, Bifid ureter, Vesicoureteral reflux, Dextrocardia, Patent ductus arterios...	ORPHA:1571
Alagille Syndrome 1	Ventricular septal defect, Atrial septal defect, Duplicated collecting system, Long nose, Renal d...	OMIM:118450
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Hypoplasia of the maxilla, Skeletal muscle atrophy, Facial diplegia, Limb musc...	OMIM:218000
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Unilateral renal agenesis, Anosmia, Cleft upper lip, Cryptorchidism, Hypogonadotropic hypogonadis...	OMIM:244200
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Wide nasal bridge, Carious teeth, Dental malocclusion, Microretrognathia, Renal cyst, Scapular wi...	OMIM:615560
Dysosteosclerosis	Craniofacial hyperostosis, Delayed eruption of teeth, Abnormal dental enamel morphology, Ventricu...	ORPHA:1782
Ring Chromosome 7 Syndrome	Wide nasal bridge, Bifid uvula, Small hand, Short 5th finger, Mandibular prognathia, Narrow naris...	ORPHA:1449
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Abnormal pulmonary interstitial morphology, Atelectasis, Pleural effusion, Recurrent lower respir...	OMIM:620233
Pallister-Hall Syndrome	Small scrotum, Natal tooth, Hydrometrocolpos, Hypopituitarism, Cryptorchidism, Ventricular septal...	ORPHA:672
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Micromelia, Anteverted nares, Camptodactyly, Thin verm...	OMIM:610015
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Depressed nasal bridge, Nephrocalcinosis, Bifid uvula, Dental crowding, Delayed eruption of teeth...	OMIM:300990
Tuberous Sclerosis 1	Precocious puberty, Dental enamel pits, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Rena...	OMIM:191100
Helsmoortel-Van Der Aa Syndrome	Small hand, Carious teeth, Ankyloglossia, Cryptorchidism, Mitral valve prolapse, Atrial septal de...	OMIM:615873
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the z...	ORPHA:193
Cornelia De Lange Syndrome	Multicystic kidney dysplasia, Small hand, Micrognathia, Cryptorchidism, Congenital diaphragmatic ...	ORPHA:199
Desmoid Tumor	Hydronephrosis, Abnormality of the upper urinary tract, Intestinal polyposis, Intestinal obstruction	ORPHA:873
Monosomy 13Q34	Epistaxis, Broad nasal tip, Prominent nose, Prominent nasal bridge, Micrognathia, Common atrium, ...	ORPHA:96168
Leukodystrophy, Hypomyelinating, 10	Skeletal muscle atrophy, Long philtrum, Bulbous nose, Anteverted nares, Malar flattening, Smooth ...	OMIM:616420
X Small Rings	Aortic root aneurysm, Long philtrum, Upper limb undergrowth, Anteverted nares, Mitral stenosis, L...	ORPHA:96201
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma	ORPHA:43393
Congenital Total Pulmonary Venous Return Anomaly	Hypoplastic left heart, Mixed total anomalous pulmonary venous connection, Atrial situs ambiguous...	ORPHA:99125
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Abnormal heart morphology, Hypertrophic cardiomyopathy, Heparan sulfate excretion i...	ORPHA:505248
Leber Congenital Amaurosis	Abnormality of neuronal migration, Encephalocele	ORPHA:65
Severe Neurodegenerative Syndrome With Lipodystrophy	Respiratory failure, Hyperactivity	ORPHA:363400
Ctcf-Related Neurodevelopmental Disorder	Macrodontia of permanent maxillary central incisor, Abnormality of the dentition, Broad nasal tip...	ORPHA:363611
Rhombencephalosynapsis	Microretrognathia, Abnormality of the uterus, Anteverted nares, Narrow mouth, Abnormal renal morp...	ORPHA:59315
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Microcephaly, Thin corpus callosum	OMIM:619694
Cardiomyopathy, Dilated, 1Oo	Dilated cardiomyopathy, Atrial septal defect	OMIM:620247
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure	OMIM:312170
Leigh Syndrome, Nuclear	Respiratory failure, Respiratory insufficiency	OMIM:256000
Developmental And Epileptic Encephalopathy 102	Hepatomegaly, Situs inversus totalis, Atrial septal defect	OMIM:619881
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Ureterocele, Renal insufficiency, Cryptorchidism, Renal hypoplasia/...	ORPHA:261265
Autosomal Dominant Robinow Syndrome	Open bite, Micrognathia, Cryptorchidism, Anodontia, Hypoplastic labia majora, Hypospadias, Short ...	ORPHA:3107
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma	ORPHA:357154
Lathosterolosis	Long philtrum, Horseshoe kidney, Thick upper lip vermilion, Foam cells with lamellar inclusion bo...	OMIM:607330
Right Pulmonary Artery, Anomalous Origin Of, Familial	Patent foramen ovale, Ventricular septal defect, Coarctation of aorta, Patent ductus arteriosus, ...	OMIM:610338
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Retinal arteriolar tortuosity, Dilatation of the cerebral artery, Renal insufficiency, Hematuria,...	OMIM:611773
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Dental malocclusion, Contractures of the large joints, External genital hypoplasia, Micrognathia,...	ORPHA:329178
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Depressed nasal bridge, Anteverted nares, Short ribs, Limb undergrowth, Patent ductus arteriosus,...	OMIM:618961
Smooth Muscle Dysfunction Syndrome	Pulmonary artery dilatation, Dilatation of the cerebral artery, Intestinal malrotation, Aortic ar...	OMIM:613834
Congenital Heart Defects, Multiple Types, 7	Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao...	OMIM:618780
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Depressed nasal bridge, Hypoplasia of the zygomatic bone, Retrognathia, Supernumerary nipple, Abn...	ORPHA:1812
Cousin Syndrome	Mesomelia, Joint contracture of the hand, Microglossia, Hypoplastic scapulae, Rhizomelia, Ambiguo...	OMIM:260660
Fetal Hydantoin Syndrome	Depressed nasal ridge, Short distal phalanx of finger, Bifid scrotum, Wide mouth, Cryptorchidism,...	ORPHA:1912
Septooptic Dysplasia	Absent septum pellucidum, Agenesis of corpus callosum	OMIM:182230
Multiple Mitochondrial Dysfunctions Syndrome 1	Neonatal death, Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:605711
Ullrich Congenital Muscular Dystrophy	Respiratory failure	ORPHA:75840
Birt-Hogg-Dube Syndrome 1	Cutaneous leiomyosarcoma, Renal cyst, Large intestinal polyposis, Renal cell carcinoma, Renal neo...	OMIM:135150
Vitamin K Antagonist Embryofetopathy	Depressed nasal bridge, Choanal atresia, Short distal phalanx of finger, Anteverted nares, Macrog...	ORPHA:1914
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Wide nasal bridge, Long philtrum, Prominent nose, Malar flattening, Abnormal mitral valve morphol...	ORPHA:1292
Tetraamelia-Multiple Malformations Syndrome	Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the nose, Micrognathia, Narrow mouth, ...	ORPHA:3301
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Downturned corners of mouth, Long philtrum, Anteverted nares, Micrognathia, Narrow mouth, Oligodo...	ORPHA:391408
Gm1 Gangliosidosis	Depressed nasal ridge, Depressed nasal bridge, Broad nasal tip, Cardiomyopathy, Cherry red spot o...	ORPHA:354
X-Linked Intellectual Disability, Cantagrel Type	Short philtrum, Tented upper lip vermilion, Shawl scrotum, Short nose	ORPHA:85277
Rhizomelic Dysplasia, Patterson-Lowry Type	Depressed nasal ridge, Rhizomelia, Short humerus, Mandibular prognathia, Short metacarpal, Short ...	ORPHA:2831
Frontofacionasal Dysplasia	Tessier cleft, Bifid nasal tip, Choanal atresia, Depressed nasal ridge, Depressed nasal bridge, D...	ORPHA:1791
Temtamy Preaxial Brachydactyly Syndrome	Tooth malposition, Abnormality of canine, Abnormality of the dentition, Hypoplasia of the maxilla...	ORPHA:363417
Congenital Disorder Of Glycosylation, Type Ia	Depressed nasal bridge, Proximal tubulopathy, Cardiomyopathy, Steatorrhea, Stroke-like episode, V...	OMIM:212065
Diamond-Blackfan Anemia	Wide nasal bridge, Depressed nasal bridge, Cleft lip, Absent thumb, Renal agenesis, Abnormality o...	ORPHA:124
Diets-Jongmans Syndrome	Broad nasal tip, Wide mouth, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal ...	OMIM:618846
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Malar flattening, Sinu...	OMIM:242860
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:614299
Skin Creases, Congenital Symmetric Circumferential, 2	Wide nasal bridge, Small scrotum, Depressed nasal bridge, Carious teeth, Ureterocele, Micrognathi...	OMIM:616734
Nocardiosis	Pneumonia, Emphysema, Pleural effusion, Pneumothorax, Anorexia, Pleuritis, Respiratory failure	ORPHA:31204
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Downturned corners of mouth, Underdeveloped nasal alae, Anteverted nares,...	OMIM:300912
Lateral Meningocele Syndrome	High, narrow palate, Craniofacial hyperostosis, Dental crowding, Micrognathia, Cryptorchidism, Ma...	ORPHA:2789
Hypomelanosis Of Ito	Gray matter heterotopia, Microcephaly, Cerebral atrophy	OMIM:300337
Mitochondrial Complex I Deficiency, Nuclear Type 10	Dysphagia, Respiratory failure	OMIM:618233
Dermatomyositis	Lymphoma, Neoplasm, Lung adenocarcinoma, Gastrointestinal stroma tumor, Abnormal pulmonary inters...	ORPHA:221
Diamond-Blackfan Anemia 1	Depressed nasal ridge, Renal hypoplasia, Hypoplastic coccygeal vertebrae, Absent thumb, Short thu...	OMIM:105650
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Hematuria, Overriding aorta, Patent ductus arteriosus, Ventricular septal defect	OMIM:617021
Pontocerebellar Hypoplasia, Type 8	Anteverted nares, Tented upper lip vermilion, Patent foramen ovale, Ventricular septal defect, Ar...	OMIM:614961
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Hydronephrosis, Cryptorchidism	OMIM:618060
Yunis-Varon Syndrome	Clitoral hypertrophy, Aplasia of the distal phalanx of the hallux, Broad secondary alveolar ridge...	ORPHA:3472
Osteopathia Striata-Cranial Sclerosis Syndrome	Aortic valve stenosis, High, narrow palate, Wide nasal bridge, Bifid uvula, Delayed eruption of t...	ORPHA:2780
Geleophysic Dysplasia 3	Pneumonia, Respiratory failure	OMIM:617809
Desmoplastic Small Round Cell Tumor	Testicular neoplasm, Sarcoma, Ovarian neoplasm, Neoplasm of the pancreas, Neoplasm of the lung, N...	ORPHA:83469
Feingold Syndrome 1	Interrupted aortic arch, Wide nasal bridge, Annular pancreas, Short toe, Duodenal atresia, Short ...	OMIM:164280
Netherton Syndrome	Emphysema, Recurrent respiratory infections	ORPHA:634
Schopf-Schulz-Passarge Syndrome	Basal cell carcinoma, Squamous cell carcinoma, Poroma, Apocrine hidrocystoma	OMIM:224750
Chondrodysplasia Punctata 1, X-Linked Recessive	Anosmia, Depressed nasal bridge, Short distal phalanx of finger, Hypogonadism, Short nasal septum...	OMIM:302950
Osteoglophonic Dysplasia	Hypoplastic scapulae, Cryptorchidism, Chordee, High palate, Short foot, Hypospadias, Short metaca...	OMIM:166250
Orofaciodigital Syndrome Xiv	Cleft lip, Natal tooth, Microretrognathia, Anteriorly placed anus, Hamartoma of tongue, Unilatera...	OMIM:615948
Distal Deletion 9P	Wide nasal bridge, High, narrow palate, Abnormality of the dentition, Hypoplastic labia majora, C...	ORPHA:1642
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Aplasia/hypoplasia involving bones of the extremities, Depressed nasal bridge, Hypoplasia of the ...	ORPHA:508533
Arterial Tortuosity Syndrome	Dilated cardiomyopathy, Aortic root aneurysm, Aortic dissection, Hypertrophic cardiomyopathy, Art...	ORPHA:3342
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Focal white matter lesions	ORPHA:557003
Tangier Disease	Coronary artery stenosis, Hepatosplenomegaly, Facial diplegia, Left ventricular hypertrophy, Caro...	ORPHA:31150
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Wide nasal bridge, Small scrotum, Bifid uvula, Broad nasal tip, Long philtrum, Malar flattening, ...	OMIM:620330
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Depressed nasal bridge, Dental crowding, Underdeveloped nasal alae, Anteverted nares, Micrognathi...	OMIM:619005
Progressive Essential Tremor-Speech Impairment-Facial Dysmorphism-Intellectual Disability-Abnormal Behavior Syndrome	High, narrow palate, Duplication of renal pelvis, Long philtrum, Endometrial carcinoma, Ureteral ...	ORPHA:457212
Joubert Syndrome 16	Renal cyst, Nephronophthisis	OMIM:614465
Hyperinsulinemic Hypoglycemia, Familial, 8	Atrial septal defect	OMIM:620211
Williams Syndrome	Carious teeth, Open bite, Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal...	ORPHA:904
Lathosterolosis	Downturned corners of mouth, Long philtrum, Horseshoe kidney, Bulbous nose, Anteverted nares, Gin...	ORPHA:46059
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Tented upper lip vermilion, Smooth philtrum, Everted lower ...	ORPHA:261144
Frontometaphyseal Dysplasia 2	Decreased muscle mass, Cryptorchidism, Hip contracture, Bicuspid aortic valve, High palate, Paten...	OMIM:617137
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Choanal atresia, Hydroureter, Camptodactyly of finger, Abnormal dental enamel morphology, Cryptor...	ORPHA:2273
Developmental And Epileptic Encephalopathy 49	Basal ganglia calcification, Cerebral calcification, Dysplastic corpus callosum, Microcephaly, Hy...	OMIM:617281
Eec Syndrome	Choanal atresia, Carious teeth, Xerostomia, Tooth agenesis, Decreased response to growth hormone ...	ORPHA:1896
C Syndrome	Depressed nasal bridge, Multicystic kidney dysplasia, Micromelia, Long philtrum, Horseshoe kidney...	ORPHA:1308
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Micrognathia, High palate, Peg-shaped max...	ORPHA:2751
Nijmegen Breakage Syndrome	Choanal atresia, Anal stenosis, Cleft upper lip, Recurrent urinary tract infections, Malar promin...	OMIM:251260
Kawasaki Disease	Vasculitis, Strawberry tongue, Sterile pyuria, Double outlet right ventricle with subpulmonary ve...	ORPHA:2331
Focal Dermal Hypoplasia	Midclavicular aplasia, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hernia, Sho...	OMIM:305600
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Intestinal pseudo-obstruction, Long philtrum, Retrognathia, Cryptor...	ORPHA:73246
Meckel Syndrome, Type 5	Renal cyst, Cleft palate, Bile duct proliferation, Cleft upper lip	OMIM:611561
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hyperplasia of the premaxilla, Advanced eruption...	OMIM:614753
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Anomalous origin of left subclavian artery, Precocious puberty, Retrognathia, Increased circulati...	ORPHA:438213
Poretti-Boltshauser Syndrome	Gray matter heterotopia, Abnormal periventricular white matter morphology	OMIM:615960
Holoprosencephaly	Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal defect, Choanal atresia, Depr...	ORPHA:2162
Snakebite Envenomation	Neuromuscular dysphagia, Respiratory failure, Pseudobulbar paralysis	ORPHA:449285
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Knee flexion contracture, Ventricular septal defect, Atrial septal defec...	OMIM:603387
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Carcinoma	OMIM:610644
Ramos-Arroyo Syndrome	Depressed nasal bridge, Carious teeth, Xerostomia, Smooth tongue, Long philtrum, Anteverted nares...	ORPHA:1051
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Partial agenesis of the corpus callosum, Thin corpus callosum, Polymicro...	OMIM:619775
Trichohepatoenteric Syndrome 1	Galactosuria, Depressed nasal ridge, Bifid uvula, Long philtrum, Tetralogy of Fallot, Renal corti...	OMIM:222470
Gapo Syndrome	High, narrow palate, Depressed nasal bridge, Eruption failure, Long philtrum, Thick lower lip ver...	OMIM:230740
Malignant Atrophic Papulosis	Pleural effusion, Respiratory failure	ORPHA:679
Cornelia De Lange Syndrome 6	Macrodontia of permanent maxillary central incisor, Cleft lip, Short 1st metacarpal, Long philtru...	OMIM:620568
Dermotrichic Syndrome	Aminoaciduria, Depressed nasal bridge, Aganglionic megacolon, Short nose	ORPHA:99688
Familial Cutaneous Collagenoma	Atrial septal defect, Cardiomyopathy	ORPHA:53296
Pagod Syndrome	Hypoplastic left heart, Pulmonary artery hypoplasia, Multicystic kidney dysplasia, Abnormality of...	ORPHA:991
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Tetralogy of Fallot, Micrognathia, Ventricular septal defect, Varicose veins, Pa...	OMIM:153400
Tbck-Related Intellectual Disability Syndrome	Wide nasal bridge, High, narrow palate, Skeletal muscle atrophy, Long philtrum, Decreased respons...	ORPHA:488632
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Thick lower lip vermilion, Anteverted nares, Tented upper lip vermilion, Thin upper lip vermilion...	OMIM:619854
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Retrognathia, Thick nasal alae, Micrognathia, Short nose	ORPHA:163961
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Micrognathia, Short nose	ORPHA:1514
Meier-Gorlin Syndrome 4	Emphysema	OMIM:613804
Spondylo-Ocular Syndrome	Thin vermilion border, Facial hypotonia, Long philtrum, Ventricular septal defect	ORPHA:85194
Spinocerebellar Ataxia Type 1	Dysphagia, Respiratory failure	ORPHA:98755
Muscular Dystrophy, Congenital, With Or Without Seizures	Dysphagia, Respiratory failure	OMIM:620166
Pontocerebellar Hypoplasia Type 1	Respiratory failure	ORPHA:2254
2Q31.1 Microdeletion Syndrome	Downturned corners of mouth, Long philtrum, Camptodactyly of finger, Bulbous nose, Micrognathia, ...	ORPHA:251014
X-Linked Dominant Chondrodysplasia Punctata	Depressed nasal bridge, Hypoplastic cervical vertebrae, Hydronephrosis, High palate, Flexion cont...	ORPHA:35173
16P11.2P12.2 Microdeletion Syndrome	Microretrognathia, Camptodactyly of finger, Bulbous nose, Anteverted nares, Open mouth, Absent na...	ORPHA:261211
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Dental malocclusion, Anteverted nares, Prominent nasal bridge, Wide mouth, Cryptor...	OMIM:227330
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Micrognathia, Narrow mouth, Hip contracture, Atrial septal defect, Duplicated collecting system, ...	OMIM:300868
Mowat-Wilson Syndrome	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Open mouth, Cryptorchidis...	ORPHA:2152
45,X/46,Xy Mixed Gonadal Dysgenesis	Streak ovary, Abnormal scrotum morphology, Cryptorchidism, Micrognathia, Bicuspid aortic valve, C...	ORPHA:1772
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Atrial septal defect, High palat...	OMIM:617506
Congenital Pulmonary Valvar Stenosis	Atrial septal defect	ORPHA:3189
Orofaciodigital Syndrome Vi	Hypoplastic left heart, Broad nasal tip, Short femur, Renal agenesis, Lobulated tongue, Cleft upp...	OMIM:277170
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Homocystinuria, Methylmalonic aciduria, Cystathioninuria, Thin upper lip vermilion, Glossitis, Tr...	OMIM:277380
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration, Microcephaly, Abnormal cerebral white matter morphology	OMIM:300957
Combined Oxidative Phosphorylation Deficiency 4	Respiratory failure, Death in infancy	OMIM:610678
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Depressed nasal ridge, Rhizomelia, Micrognathia, Short palm, Short philtrum, Short foot, Wide mou...	ORPHA:163966
Codas Syndrome	Depressed nasal bridge, Hypoplasia of the odontoid process, Delayed eruption of teeth, Atrioventr...	OMIM:600373
Exstrophy-Epispadias Complex	Abnormality of the ureter, Cryptorchidism, Abnormality of the kidney, Urinary incontinence, Anal ...	ORPHA:322
Myopathy With Extrapyramidal Signs	Anteverted nares, Tented upper lip vermilion, Splenomegaly, Ventricular septal defect, Calf muscl...	OMIM:615673
Congenital Tracheal Stenosis	Hypoplastic left heart, Meckel diverticulum, Duodenal atresia, Duodenal stenosis, Abnormal stomac...	ORPHA:141127
Monosomy 9P	Choanal atresia, Depressed nasal bridge, Abnormality of the dentition, Long philtrum, Anteverted ...	ORPHA:261112
Neurooculorenal Syndrome	Ectopic posterior pituitary, Unilateral renal agenesis, Hypoplasia of the bladder, Short 1st meta...	OMIM:620305
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Recurrent respiratory infections, Atelectasis	ORPHA:2314
Granulomatosis With Polyangiitis	Vasculitis, Epistaxis, Abnormality of the nose, Ureteral stenosis, Renal insufficiency, Intestina...	ORPHA:900
Spondylodysplastic Ehlers-Danlos Syndrome	Aortic valve stenosis, Prominent scalp veins, Micrognathia, Narrow mouth, Cryptorchidism, Atrial ...	ORPHA:536471
Fibrochondrogenesis 2	Anteverted nares, Micrognathia, Malar flattening, Short ribs, Short nose	OMIM:614524
Diamond-Blackfan Anemia 12	Ventricular septal defect	OMIM:615550
Methylmalonic Acidemia With Homocystinuria Type Cblf	Unilateral renal agenesis, Methylmalonic aciduria, Abnormal heart morphology, Intraventricular he...	ORPHA:79284
Endove Syndrome, Limb-Brain Type	Hydronephrosis, Aplasia of the 3rd finger, Neurogenic bladder, Recurrent urinary tract infections	OMIM:619218
Fanconi Anemia, Complementation Group C	Absent thumb, Renal agenesis, Short thumb, Horseshoe kidney, Cryptorchidism, Ventricular septal d...	OMIM:227645
Non-Syndromic Posterior Hypospadias	Urethral diverticulum, Bifid scrotum, Cryptorchidism, Congenital diaphragmatic hernia, Displaceme...	ORPHA:95706
Histiocytoid Cardiomyopathy	Stroke-like episode, Polycystic ovaries, Cardiomegaly, Renal cyst, Ventricular septal defect, Hep...	ORPHA:137675
Perlman Syndrome	Interrupted aortic arch, Wide nasal bridge, Depressed nasal bridge, Distal ileal atresia, Viscero...	OMIM:267000
Joubert Syndrome 21	Dysphagia, Respiratory failure, Pulmonary hypoplasia	OMIM:615636
3Mc Syndrome 2	Wide nasal bridge, Hypoplasia of the musculature, Downturned corners of mouth, Cleft upper lip, H...	OMIM:265050
Xanthinuria, Type I	Pyelonephritis, Xanthine nephrolithiasis, Myopathy, Hydronephrosis, Xanthinuria	OMIM:278300
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Microcephaly	OMIM:617008
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Micrognathia, Tented upper lip vermilion, Exaggerated cupid's bow, Distal...	OMIM:619833
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Aminoaciduria, Renal hypoplasia, Nephrocalcinosis, Renal artery stenosis, Micrognathia, Splenomeg...	OMIM:617913
Aortic Valve Disease 2	Aortic valve stenosis, Calcification of the aorta, Patent foramen ovale, Bicuspid aortic valve, C...	OMIM:614823
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Hypoplastic left heart, Anteriorly placed anus, Tetralogy of Fallot, Cryptorchidism, Patent foram...	OMIM:618748
Phocomelia, Schinzel Type	High, narrow palate, Finger aplasia, Micromelia, Aplasia/Hypoplasia of the sacrum, Foot oligodact...	ORPHA:2879
Oculoectodermal Syndrome	Wide nasal bridge, Depressed nasal bridge, Bladder exstrophy, Supernumerary nipple, Hypertrophic ...	OMIM:600268
Erdheim-Chester Disease	Abnormal pericardium morphology, Renal insufficiency, Abnormal aortic valve morphology, Hydroneph...	ORPHA:35687
Gomez-Lopez-Hernandez Syndrome	Decreased response to growth hormone stimulation test, Anteverted nares, Malar flattening, Smooth...	OMIM:601853
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Dental crowding, Shortening o...	OMIM:101600
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Atrial septal defect	OMIM:615160
Alg1-Cdg	Respiratory failure	ORPHA:79327
Limb Body Wall Complex	Wide nasal bridge, Choanal atresia, Depressed nasal bridge, Cleft lip, Abnormal heart morphology,...	ORPHA:2369
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Proximal tubulopathy, Villous atrophy, Renal cyst, Hepatomegaly, Lymp...	OMIM:602579
Adenylosuccinase Deficiency	Skeletal muscle atrophy, Long philtrum, Elevated urinary succinylaminoimidazole carboxamide ribos...	OMIM:103050
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Depressed nasal bridge, Abnormality of the dentition, Thick vermilion border, Tented upper lip ve...	ORPHA:457395
Joubert Syndrome 20	Renal cyst	OMIM:614970
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Open mouth, Cryptorchidis...	ORPHA:261552
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Depressed nasal bridge, Tooth malposition, Hypoplasia of the maxilla, Abno...	OMIM:277600
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Open mouth, Cryptorchidis...	ORPHA:261537
Dubowitz Syndrome	Depressed nasal bridge, Anal stenosis, Abnormality of the dentition, Small hand, Delayed eruption...	ORPHA:235
Waardenburg Syndrome Type 1	Wide nasal bridge, Underdeveloped nasal alae, Cleft upper lip, Tented upper lip vermilion, Agangl...	ORPHA:894
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Abnormal heart morphology, Diastasis recti, Ventricular septal defect	ORPHA:254534
Congenital Disorder Of Glycosylation, Type Iim	Wide nasal bridge, Mandibular prognathia, Open mouth, Ureteropelvic junction obstruction, Exagger...	OMIM:300896
Common Variable Immunodeficiency	Pneumonia, Emphysema, Recurrent bronchitis, Recurrent respiratory infections, Bronchiectasis	ORPHA:1572
Igg4-Related Retroperitoneal Fibrosis	Varicocele, Acute kidney injury, Large vessel vasculitis, Unilateral renal hypoplasia, Renal insu...	ORPHA:49041
Williams-Beuren Syndrome	Open mouth, Mitral valve prolapse, Ventricular septal defect, Bicuspid aortic valve, Atrial septa...	OMIM:194050
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Wide nasal bridge, Bulbous nose, Thin upper lip vermilion, Short nose	OMIM:620292
Tetrasomy 18P	Abnormality of neuronal migration, Microcephaly	ORPHA:3307
Meckel Syndrome, Type 3	Hepatomegaly, Multicystic kidney dysplasia, Bile duct proliferation, Cleft palate	OMIM:607361
5Q14.3 Microdeletion Syndrome	Short philtrum, Anteverted nares, Open mouth, Short nose	ORPHA:228384
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Depressed nasal bridge, Short ribs, Ventricular septal defect, Ambiguous genitalia, Pancreatic fi...	OMIM:615503
Congenital Myopathy 22B, Severe Fetal	Hypoplasia of the musculature, Micrognathia, Limb muscle weakness, Hip contracture, Hepatomegaly,...	OMIM:620369
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Depressed nasal bridge, Ankle flexion contracture, Natal tooth, Volvulus, Micrognathia, Short nose	OMIM:617802
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy, Perianal dermatitis, Chapped lip, Anal fissure	ORPHA:294023
Renal Hypoplasia, Bilateral	Chronic kidney disease, Renal hypoplasia, Oliguria, Beta 2-microglobulinuria, Glycosuria, Decreas...	ORPHA:97362
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure	OMIM:619483
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Wide nasal bridge, Long philtrum, Depressed nasal tip, Exaggerated cupid's bow, Ventricular septa...	OMIM:619306
Epidermodysplasia Verruciformis	Squamous cell carcinoma, Verrucae	ORPHA:302
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Micrognathia, Cryptorchidism, Anal atresia, Short foot, Wide nose, Urethrovaginal fistula, Tessie...	ORPHA:93271
Beckwith-Wiedemann Syndrome	Macroglossia, Nephrocalcinosis, Pancreatic hyperplasia, Cardiomyopathy, Overgrowth of external ge...	OMIM:130650
Magel2-Related Prader-Willi-Like Syndrome	Precocious puberty, Small scrotum, Small pituitary gland, Small hand, Xerostomia, Downturned corn...	ORPHA:398069
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Dysphagia, Respiratory failure, Death in childhood	OMIM:619847
Microlissencephaly-Micromelia Syndrome	Micromelia, Long philtrum, 11 pairs of ribs, Hypoparathyroidism, Fetal pyelectasis, Short nose	ORPHA:50810
Thanatophoric Dysplasia Type 1	Depressed nasal bridge, Micromelia, Atrial septal defect, Abnormality of the kidney, Patent ductu...	ORPHA:1860
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Unilateral renal agenesis, Coronary artery fistula, Cryptorchidism, Ventricular septal defect, At...	OMIM:620024
Bardet-Biedl Syndrome 6	Vaginal atresia, Renal cyst, External genital hypoplasia, Hypospadias	OMIM:605231
Autosomal Recessive Spastic Paraplegia Type 20	Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Prominent nose, Increased...	ORPHA:101000
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Respiratory failure, Death in infancy	ORPHA:1194
Campomelia, Cumming Type	Multicystic kidney dysplasia, Micromelia, Abnormal intestine morphology, Multiple renal cysts, He...	ORPHA:1318
Whim Syndrome	Pneumonia, Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Respir...	ORPHA:51636
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Tetralogy of Fallot, Absent gallbladder, Renal hypoplasia/aplasia, Median cleft upper lip, Aplasi...	ORPHA:3186
Geleophysic Dysplasia 1	Aortic valve stenosis, Wide nasal bridge, Joint contracture of the hand, Short metacarpals with r...	OMIM:231050
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Death in childhood	OMIM:615838
Orofaciodigital Syndrome Type 14	Microretrognathia, Lobulated tongue, Bilateral cryptorchidism, Hamartoma of tongue, Bulbous nose,...	ORPHA:434179
Cerebrofacioarticular Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dysplastic corpus callosum, Micro...	ORPHA:314679
Monosomy 9Q22.3	Delayed eruption of teeth, Long philtrum, Narrow mouth, Nephroblastoma, Cardiac fibroma, Ovarian ...	ORPHA:77301
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Wide nasal bridge, Abnormality of canine, Short thumb, Supernumerary nipple, Widely spaced teeth,...	ORPHA:477993
Congenital Tracheomalacia	Pneumonia, Abnormal pulmonary artery morphology, Recurrent upper respiratory tract infections, Ne...	ORPHA:95430
Meckel Syndrome, Type 6	Cleft upper lip, Aplasia of the bladder, Horseshoe kidney, Absent gallbladder, Hepatic cysts, Ren...	OMIM:612284
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Small scrotum, Hypoplastic scapulae, Short 5th toe, Ventricular sept...	OMIM:181450
Caroli Syndrome	Abnormal ductus choledochus morphology, Abnormality of the kidney, Hepatomegaly, Polycystic kidne...	ORPHA:480520
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Microretrognathia, Long philtrum, Short finger, Dilatation of the ventricu...	ORPHA:459070
Aymé-Gripp Syndrome	Depressed nasal bridge, Long philtrum, Breast hypoplasia, Narrow mouth, Cryptorchidism, Congenita...	ORPHA:1272
Distal Deletion 3P	Downturned corners of mouth, Long philtrum, Atrioventricular canal defect, Anteverted nares, Micr...	ORPHA:1620
Ureterocele	Duplicated collecting system, Ureterocele	OMIM:191650
Diaphragmatic Hernia 4, With Cardiovascular Defects	Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aortic root aneurysm, Bulbous no...	OMIM:620025
Noonan Syndrome 7	Depressed nasal bridge, Hypertrophic cardiomyopathy, Abnormal esophagus morphology, Atrial septal...	OMIM:613706
Porphyria Due To Ala Dehydratase Deficiency	Depression, Abnormal fear-induced behavior, Difficulty walking, Restlessness, Agitation	ORPHA:100924
Hypocomplementemic Urticarial Vasculitis	Emphysema, Pleural effusion	ORPHA:36412
Peho Syndrome	Tented upper lip vermilion, Open mouth, Retrognathia, Short nose	OMIM:260565
Bickerstaff Brainstem Encephalitis	Pneumonia, Respiratory failure, Respiratory tract infection, Respiratory failure requiring assist...	ORPHA:79138
Lacrimoauriculodentodigital Syndrome	Carious teeth, Xerostomia, Micrognathia, Cryptorchidism, Patent ductus arteriosus, Choanal atresi...	ORPHA:2363
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Hypoplastic scapulae, Dilatation of the renal pel...	ORPHA:95699
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Depressed nasal bridge, Hypopituitarism, Anteverted nares, Malar flattening, Anterior pituitary h...	OMIM:613038
Lissencephaly 9 With Complex Brainstem Malformation	Depressed nasal bridge, Ventricular septal defect	OMIM:618325
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Depressed nasal bridge, Renal hypoplasia, Small hand, Depressed nasal tip, Micrognathia, 11 pairs...	OMIM:620005
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Broad columella, Downturned corners of mouth, Widely spaced teeth, Open m...	OMIM:617865
Bent Bone Dysplasia Syndrome 2	Depressed nasal bridge, Short 1st metacarpal, Short tibia, Short ribs, Hepatomegaly, Short sternu...	OMIM:620076
Desbuquois Dysplasia 1	Depressed nasal bridge, Microretrognathia, Short 1st metacarpal, Long philtrum, Narrow mouth, Mal...	OMIM:251450
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Depressed nasal bridge, Dentinogenesis imperfecta, Carious teeth, Aortic root aneurysm, Long phil...	ORPHA:536467
Johanson-Blizzard Syndrome	Clitoral hypertrophy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Hepatomega...	OMIM:243800
Ayme-Gripp Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Craniofacial asymmetry, ...	OMIM:601088
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:614924
Townes-Brocks Syndrome 1	Multicystic kidney dysplasia, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Re...	OMIM:107480
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Pontocerebellar Hypoplasia, Type 10	Wide nasal bridge, Underdeveloped nasal alae, Widely spaced teeth, Bulbous nose, Cryptorchidism, ...	OMIM:615803
Sotos Syndrome	Cryptorchidism, Hip contracture, Ventricular septal defect, Atrial septal defect, Abnormality of ...	ORPHA:821
Joubert Syndrome 7	Renal cyst, Stage 5 chronic kidney disease, Nephronophthisis	OMIM:611560
Holoprosencephaly 9	Hypoplasia of the premaxilla, Cryptorchidism, Bilateral cleft palate, Short hard palate, Anterior...	OMIM:610829
Cutis Laxa, Autosomal Recessive, Type Iid	Wide nasal bridge, Retrognathia, Bilateral cryptorchidism, Hypertrophic cardiomyopathy, Narrow na...	OMIM:617403
Developmental And Epileptic Encephalopathy 18	Atrial septal defect	OMIM:615476
Phace Association	Arterial stenosis, Ventricular septal defect, Lingual thyroid, Coarctation of aorta, Aortic aneur...	OMIM:606519
Tuberous Sclerosis 2	Precocious puberty, Adenoma sebaceum, Cardiac rhabdomyoma, Pulmonary lymphangiomyomatosis, Renal ...	OMIM:613254
Marshall Syndrome	Depressed nasal bridge, Bifid uvula, Macrodontia of permanent maxillary central incisor, Long phi...	OMIM:154780
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Ventilator dependence with inability to wean, Respiratory failure	OMIM:604320
Otopalatodigital Syndrome, Type I	Wide nasal bridge, Short distal phalanx of finger, Short 3rd metacarpal, Selective tooth agenesis...	OMIM:311300
21Q22.11Q22.12 Microdeletion Syndrome	Dental crowding, Downturned corners of mouth, Thick lower lip vermilion, Bulbous nose, Anteverted...	ORPHA:261323
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory failure	OMIM:250940
Liver Disease, Severe Congenital	Dilatation of the ventricular cavity, Micrognathia, Ventricular septal defect, Atrial septal defe...	OMIM:619991
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Hypoplastic coccygeal vertebrae, Dilation of Virchow-Robin spaces, Arthrog...	OMIM:619512
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Convex nasal ridge, Short nose	OMIM:200130
Esophageal Atresia	Choanal atresia, Barrett esophagus, Abnormality of the urinary system, Cleft lip, Renal agenesis,...	ORPHA:1199
Farber Disease	Recurrent upper respiratory tract infections, Nodular pattern on pulmonary HRCT, Atelectasis, Res...	ORPHA:333
Carpenter Syndrome 2	Carious teeth, Supernumerary nipple, Narrow naris, Cryptorchidism, Atrial septal defect, Dextroca...	OMIM:614976
Mowat-Wilson Syndrome	Tooth malposition, Supernumerary nipple, Cryptorchidism, Ventricular septal defect, Prominent nas...	OMIM:235730
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathi...	OMIM:601812
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Cerebral calcification, Periventricular heterotopia, Agenesis of corpus callosum, Hyperintensity ...	OMIM:618476
Oculocerebral Hypopigmentation Syndrome, Cross Type	Depressed nasal bridge, Abnormality of the urinary system, Ureteral stenosis, Anteverted nares, N...	ORPHA:2719
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Depressed nasal bridge, Downturned corners of mouth, Bulbous nose, Open mouth, Tented upper lip v...	OMIM:618430
Cutis Laxa, Autosomal Recessive, Type Ia	Emphysema, Peripheral pulmonary artery stenosis, Recurrent respiratory infections	OMIM:219100
Lymphangioleiomyomatosis	Chylothorax, Atelectasis, Emphysema, Pulmonary lymphangiomyomatosis, Pneumothorax, Recurrent resp...	ORPHA:538
Cerebellofaciodental Syndrome	Macrodontia of permanent maxillary central incisor, Dental malocclusion, Cryptorchidism, Mitral v...	OMIM:616202
Ebstein Malformation Of The Tricuspid Valve	Imperforate tricuspid valve, Abnormal endocardium morphology, Atrial septal defect, Abnormal card...	ORPHA:1880
Otopalatodigital Syndrome, Type Ii	Depressed nasal bridge, Short thumb, Rudimentary fibula, Elbow contracture, Micrognathia, Narrow ...	OMIM:304120
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Depressed nasal bridge, Malar flattening, Hypoplasia of the zygomatic bone, Short nose	ORPHA:2835
Interstitial Nephritis, Karyomegalic	Nephronophthisis, Renal tubular cyst, Glycosuria, Stage 5 chronic kidney disease, Proteinuria, He...	OMIM:614817
Myhre Syndrome	Aortic valve stenosis, Narrow mouth, Cryptorchidism, Ventricular septal defect, Atrial septal def...	OMIM:139210
Townes-Brocks Syndrome	Abnormal vagina morphology, Cryptorchidism, Atrial septal defect, Rectoperineal fistula, Abnormal...	ORPHA:857
Diamond-Blackfan Anemia 8	Wide nasal bridge, Thick upper lip vermilion, Short nose	OMIM:612563
Microcephaly, Developmental Delay, And Brittle Hair Syndrome	Aortic root aneurysm, Generalized limb muscle atrophy, Narrow nose, Submucous cleft hard palate, ...	OMIM:618891
Keutel Syndrome	Wide nasal bridge, Depressed nasal bridge, Pulmonary artery hypoplasia, Peripheral pulmonary arte...	OMIM:245150
Poikiloderma With Neutropenia	Depressed nasal bridge, Carious teeth, Retrognathia, Underdeveloped nasal alae, Long philtrum, Mi...	OMIM:604173
Kaposiform Lymphangiomatosis	Epistaxis, Pancreatic cysts, Hepatosplenomegaly, Splenomegaly, Abnormal lymphatic vessel morpholo...	ORPHA:464329
Juvenile Polyposis Of Infancy	High, narrow palate, Depressed nasal bridge, Intestinal bleeding, Protein-losing enteropathy, Mid...	ORPHA:79076
Joubert Syndrome	Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Encephalocele, Abnormality of neuronal...	ORPHA:475
Meckel Syndrome, Type 2	Intestinal malrotation, Renal cyst, Bile duct proliferation, Cleft palate	OMIM:603194
Papillorenal Syndrome	Chronic kidney disease, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidney, Stage 5...	OMIM:120330
Congenital Fiber-Type Disproportion Myopathy	Aspiration pneumonia, Intercostal muscle weakness, Respiratory insufficiency due to muscle weakne...	ORPHA:2020
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Duplication of renal pelvis, Delayed eruption of teeth, Recurrent u...	ORPHA:2036
Treacher-Collins Syndrome	Small scrotum, Open bite, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Rectovaginal f...	ORPHA:861
Postaxial Acrofacial Dysostosis	Choanal atresia, Conical tooth, Short thumb, Cleft upper lip, Supernumerary nipple, Micrognathia,...	OMIM:263750
Neu-Laxova Syndrome 1	Depressed nasal ridge, Joint contracture of the hand, Renal agenesis, Cleft upper lip, Thick lowe...	OMIM:256520
Atelosteogenesis Type I	Rhizomelia, Short femur, Micrognathia, Limb undergrowth, Multiple renal cysts, Malrotation of col...	ORPHA:1190
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Intestinal malrotation, Intestinal obstruction, Ventricular septa...	OMIM:243150
Tetrasomy 5P	Wide nasal bridge, Long philtrum, Anteverted nares, Micrognathia, Aplasia/Hypoplasia of the abdom...	ORPHA:3309
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Ventricular septal defect, Persistent left superior ...	OMIM:618775
Postsynaptic Congenital Myasthenic Syndromes	Respiratory failure	ORPHA:98913
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Uterine neoplasm, Arteriovenous malformation, Abnormal large intestine morphology,...	ORPHA:109
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Abnormality of the dentition, Retrognathia, Thick lower lip vermilion, Persist...	ORPHA:2785
Axial Osteomalacia	Renal cyst, Myopathy	OMIM:109130
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Microretrognathia, Hypoplasia of the zygomatic bone, Short columella, Aganglio...	OMIM:613603
Hereditary Orotic Aciduria	Aminoaciduria, Wide nasal bridge, Oroticaciduria, Abnormality of the ureter, Splenomegaly, Orotic...	ORPHA:30
Larsen Syndrome	Depressed nasal bridge, Hypoplastic cervical vertebrae, Cleft upper lip, Cryptorchidism, Malar fl...	OMIM:150250
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Wolf-Hirschhorn Syndrome	Wide nasal bridge, Abnormality of the urinary system, Downturned corners of mouth, Abnormal lip m...	ORPHA:280
Marshall-Smith Syndrome	Choanal atresia, Retrognathia, Anteverted nares, Gingival overgrowth, Open mouth, Protruding tong...	ORPHA:561
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Long nasal bridge, Elbow contracture, Elbow flexion contracture, Knee flexion contracture, Hip co...	OMIM:178110
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Depressed nasal bridge, Microretrognathia, Underdeveloped nasal alae, Decr...	OMIM:616835
Adams-Oliver Syndrome 1	Aortic valve stenosis, Hypoplastic left heart, Imperforate hymen, Cleft upper lip, Supernumerary ...	OMIM:100300
Loeys-Dietz Syndrome 2	Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi...	OMIM:610168
Wiedemann-Rautenstrauch Syndrome	Natal tooth, Increased circulating prolactin concentration, Prominent scalp veins, Narrow mouth, ...	ORPHA:3455
Acrocephalopolydactylous Dysplasia	Micromelia, Hypoplastic colon, Pancreatic fibrosis, Short nose, Hepatomegaly, Hypoplasia of the s...	OMIM:200995
Renal Coloboma Syndrome	Renal hypoplasia, Multicystic kidney dysplasia, Vesicoureteral reflux, Renal insufficiency, Renal...	ORPHA:1475
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Renal corticomedullary cyst...	OMIM:603860
Peroxisome Biogenesis Disorder 4B	Hepatomegaly, Ureterocele, Short nose	OMIM:614863
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Small scrotum, Depressed nasal bridge, Long philtrum, Breast hypoplasia, Narrow mouth, Cryptorchi...	OMIM:601353
Spondyloepimetaphyseal Dysplasia, Krakow Type	Allergic rhinitis, Rhizomelia, Annular pancreas, Elbow contracture, Knee flexion contracture, Atr...	OMIM:618162
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Occipital encephalocele, Type II lissencephaly, Absent septum pellucidum, Agenesis of corpus call...	OMIM:615287
Myelocytic Leukemia-Like Syndrome, Familial, Chronic	Chronic myelogenous leukemia	OMIM:600080
Autosomal Recessive Cutis Laxa Type 1	Peripheral pulmonary artery stenosis, Recurrent pneumonia, Respiratory insufficiency, Emphysema, ...	ORPHA:90349
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Precocious puberty, Volvulus, Intestinal malrotation, Bulbous nose, Cryptorchidism, Ventricular s...	OMIM:616682
Crane-Heise Syndrome	Depressed nasal bridge, Hypoplastic scapulae, Aplastic clavicle, Short distal phalanx of finger, ...	ORPHA:1512
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Restlessness, Respiratory failure, Death in childhood	OMIM:617186
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Broad nasal tip, Carious teeth, Prominent veins on trunk, Long philtrum, Decreased muscle mass, A...	ORPHA:357074
Pfeiffer Syndrome Type 2	Depressed nasal bridge, Choanal atresia, Small hand, Intestinal malrotation, Malar flattening, Sh...	ORPHA:93259
Lethal Kniest-Like Dysplasia	Mesomelic/rhizomelic limb shortening, Short ribs, Hypoplastic vertebral bodies, Atrial septal def...	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	Unilateral renal agenesis, Renal hypoplasia, Glycosuria, Pancreatic hypoplasia, Stage 5 chronic k...	OMIM:137920
Cutis Laxa, Autosomal Dominant 1	Emphysema, Peripheral pulmonary artery stenosis, Bronchiectasis	OMIM:123700
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Depressed nasal bridge, Tooth malposition, Narrow palate, Hypoplasia of th...	OMIM:608328
Peroxisome Biogenesis Disorder 4A (Zellweger)	Depressed nasal bridge, Renal cyst, Hepatomegaly	OMIM:614862
Lymphatic Malformation 13	Depressed nasal bridge, Long philtrum, Patent foramen ovale, Smooth philtrum, Atrial septal defec...	OMIM:620244
Al-Gazali Syndrome	Hydronephrosis, Wrist flexion contracture, Micrognathia	OMIM:609465
De Barsy Syndrome	Delayed eruption of teeth, Prominent veins on trunk, Decreased muscle mass, Narrow mouth, Cryptor...	ORPHA:2962
Thanatophoric Dysplasia, Type I	Gray matter heterotopia, Temporal lobe dysplasia, Hydrocephalus, Neonatal death	OMIM:187600
Niemann-Pick Disease Type C	Respiratory insufficiency, Aspiration pneumonia, Disinhibition, Aggressive behavior, Compulsive b...	ORPHA:646
D-Bifunctional Protein Deficiency	Depressed nasal bridge, Retrognathia, Long philtrum, Decreased muscle mass, Micrognathia, Splenom...	OMIM:261515
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Respiratory failure	OMIM:603689
Mayer-Rokitansky-Kuster-Hauser Syndrome	Hematocolpos, Multicystic kidney dysplasia, Abnormal female external genitalia morphology, Reduce...	OMIM:277000
Peho Syndrome	Anteverted nares, Gingival overgrowth, Open mouth, Abnormal upper lip morphology, Abnormal palate...	ORPHA:2836
Warburg Micro Syndrome 2	Small scrotum, Prominent nasal bridge, Cryptorchidism, Hypoplastic labia majora, Micropenis, Flex...	OMIM:614225
Pterygium Colli, Isolated	Short nose	OMIM:177990
Bloom Syndrome	Pneumonia, Respiratory tract infection, Respiratory failure, Bronchitis	ORPHA:125
Cerebrooculonasal Syndrome	Narrow palate, Downturned corners of mouth, Proboscis, Long philtrum, Anteverted nares, Prominent...	OMIM:605627
Craniofacial Microsomia 1	Hypoplasia of facial musculature, Multicystic kidney dysplasia, Hypoplasia of the maxilla, Renal ...	OMIM:164210
Toriello-Lacassie-Droste Syndrome	Abnormal penis morphology, Abnormality of the ureter, Anteverted nares, Aganglionic megacolon, Sh...	ORPHA:3339
Pallister-Killian Syndrome	Aortic valve stenosis, Small scrotum, Small hand, Supernumerary nipple, Micrognathia, Cryptorchid...	OMIM:601803
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Depressed nasal bridge, Ectopic anterior pituitary gland, Anteverted nares, Ventricular septal de...	OMIM:620558
Holoprosencephaly 7	Wide nasal bridge, Hypoplastic nasal septum, Hypoplasia of the premaxilla, Unilateral cleft lip, ...	OMIM:610828
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Lateral ventricle dilatation, Periventricular cysts, Dysplastic corpus callosum, Hyperintensity o...	ORPHA:544488
Atelosteogenesis, Type I	Depressed nasal bridge, Rhizomelia, Short finger, Vertebral hypoplasia, Fibular aplasia, Microgna...	OMIM:108720
Blomstrand Lethal Chondrodysplasia	Mesomelia, Depressed nasal bridge, Rhizomelia, Aplastic clavicle, Natal tooth, Long philtrum, Dis...	ORPHA:50945
Bcard Syndrome	Abnormality of the dentition, Downturned corners of mouth, Contracture of the proximal interphala...	OMIM:612394
Alveolar Echinococcosis	Abnormal pericardium morphology, Abnormal skeletal muscle morphology, Hepatic cysts, Abnormal bla...	ORPHA:284
Werner Syndrome	Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le...	ORPHA:902
Mesomelia-Synostoses Syndrome	Microretrognathia, Micromelia, Micrognathia, Absent uvula, Hydronephrosis, Convex nasal ridge, Sh...	OMIM:600383
Neurocutaneous Melanocytosis	Abnormality of neuronal migration, Meningocele, Death in infancy	ORPHA:2481
Congenital Disorder Of Glycosylation, Type Iiw	Moderate albuminuria, Bilateral choanal atresia, Underdeveloped nasal alae, Tetralogy of Fallot, ...	OMIM:619525
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Hypospadias, Depressed nasal bridge, Broad nasal tip, Tented philtrum, Long philtrum, Anteriorly ...	ORPHA:495875
Rothmund-Thomson Syndrome, Type 2	Depressed nasal bridge, Small hand, Mandibular prognathia, Annular pancreas, Delayed eruption of ...	OMIM:268400
Nijmegen Breakage Syndrome	Recurrent pneumonia, Attention deficit hyperactivity disorder, Recurrent sinopulmonary infections...	ORPHA:647
Molybdenum Cofactor Deficiency, Type A	Increased urinary taurine, Decreased urinary urate, Long philtrum, Increased urinary hypoxanthine...	OMIM:252150
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration, Hydrocephalus, Encephalocele, Aplasia/Hypoplasia of the corpus...	ORPHA:2318
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Abnormal heart morphology...	ORPHA:980
Genitourinary And/Or Brain Malformation Syndrome	Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis of corpus callosum, Dy...	OMIM:618820
Mgat2-Cdg	Dental crowding, Abnormal heart morphology, Open mouth, Ventricular septal defect, Hypoplastic ni...	ORPHA:79329
Diamond-Blackfan Anemia 4	Atrial septal defect	OMIM:612527
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Narrow mouth, Malar flattening, Thin upper lip vermilio...	ORPHA:357001
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Hypodontia, Narrow nasal bridge, Flexion contracture, Short nose	ORPHA:544503
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Depressed nasal bridge, Retrognathia, Underdeveloped nasal alae, Limb hypertonia, Atrial septal d...	ORPHA:457351
Rajab Interstitial Lung Disease With Brain Calcifications 1	Emphysema, Abnormal pulmonary interstitial morphology, Respiratory failure, Respiratory insuffici...	OMIM:613658
Den Hoed-De Boer-Voisin Syndrome	Small hand, Carious teeth, Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Re...	OMIM:619229
Microphthalmia, Syndromic 3	Cryptorchidism, Ventricular septal defect, Missing ribs, Hypogonadotropic hypogonadism, Esophagea...	OMIM:206900
Stickler Syndrome	Open bite, Micrognathia, Mitral valve prolapse, Short hard palate, Short nose, Depressed nasal ri...	ORPHA:828
Msh3-Related Attenuated Familial Adenomatous Polyposis	Colon cancer, Stomach cancer, Juvenile gastrointestinal polyposis, Multiple gastric polyps, Renal...	ORPHA:480536
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small hand, Micrognathia, Narrow mouth, Cryptorchidism, High palate, Short foot, Hypospadias, Sho...	OMIM:309590
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Renal cyst, Hepatic cysts	OMIM:617874
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Acute kidney injury, Multicystic kidney dysplasia, Absent vas deferens, Renal agenesis, Mandibula...	ORPHA:93111
Treacher Collins Syndrome 1	Choanal atresia, Abnormal heart morphology, Cleft soft palate, Narrow mouth, Cryptorchidism, Micr...	OMIM:154500
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebral hypoplasia, Cerebral atrophy, Polymicrogyria, Abnormal periventricular white matter morp...	ORPHA:468631
Fraser Syndrome 1	Clitoral hypertrophy, Aplasia/Hypoplasia of the sternum, Cryptorchidism, Renal hypoplasia/aplasia...	OMIM:219000
Retinoblastoma	Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma	OMIM:180200
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Polymicrogyria, Encephalocele, Exencephaly, Abnormality of neuronal m...	ORPHA:2211
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Dysphagia, Interstitial emphysema, Bronchiectasis, Pulmonary hypoplasia	OMIM:619708
Cutis Laxa, Autosomal Recessive, Type Iia	Carious teeth, Long philtrum, Anteverted nares, Narrow mouth, Malar flattening, High palate, Shor...	OMIM:219200
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Absent gallbladder, Atrial septal defect, Bilateral renal dysplasia, Short nose, Hypoplasia of th...	ORPHA:500150
Occipital Horn Syndrome	Long philtrum, Ureteral obstruction, Carotid artery tortuosity, Short humerus, Hydronephrosis, Bl...	OMIM:304150
Amyotrophic Lateral Sclerosis	Dysphagia, Respiratory failure, Agitation	ORPHA:803
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Mandibular prognathia, Limb hypertonia, Short nose	OMIM:618087
Spondylocarpotarsal Synostosis Syndrome	Broad nasal tip, Failure of eruption of permanent teeth, Hypoplasia of the odontoid process, Ante...	OMIM:272460
Ivic Syndrome	Absent thumb, Short 1st metacarpal, Short thumb, Upper limb undergrowth, Tetralogy of Fallot, Int...	OMIM:147750
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Depressed nasal ridge, Rhizomelia, Distal shortening of limbs, 11 pairs of ribs, Hypoplasia of th...	OMIM:300863
Poliomyelitis	Anorexia, Dysphagia, Respiratory failure, Agitation, Respiratory failure requiring assisted venti...	ORPHA:2912
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Wide nasal bridge, Depressed nasal bridge, Renal hypoplasia, Broad nasal tip, Dental crowding, Sh...	OMIM:617157
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Hypoplasia of the odontoid process, Underdeveloped nasal alae, Long philt...	OMIM:616007
Peutz-Jeghers Syndrome	Nasal polyposis, Uterine neoplasm, Bladder polyp, Intestinal bleeding, Abnormality of the ureter,...	OMIM:175200
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Downturned corners of mouth, Malar flattening, Thin upper lip vermilion, ...	OMIM:618590
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Depressed nasal bridge, Everted upper lip vermilion, Hyperplasia of the maxilla, Widely spaced te...	ORPHA:513456
Peroxisome Biogenesis Disorder 1B	Wide nasal bridge, Hyperoxaluria, Renal cyst, Convex nasal ridge, Hepatomegaly	OMIM:601539
Chromosome 1P36 Deletion Syndrome, Distal	Aortic root aneurysm, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atrial se...	OMIM:607872
Trichohepatoneurodevelopmental Syndrome	Cholelithiasis, Dental crowding, Downturned corners of mouth, Widely spaced teeth, Bulbous nose, ...	OMIM:618268
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Xeroderma Pigmentosum, Variant Type	Basal cell carcinoma, Squamous cell carcinoma, Cutaneous melanoma	OMIM:278750
Galloway-Mowat Syndrome	Pachygyria, Aqueductal stenosis, Abnormality of neuronal migration, Microcephaly	ORPHA:2065
Faciocardiomelic Syndrome	Depressed nasal bridge, Dental malocclusion, Long philtrum, Hyperplasia of the maxilla, Anteverte...	OMIM:612731
Hereditary Motor And Sensory Neuropathy, Type Iic	Respiratory failure, Intercostal muscle weakness	OMIM:606071
Autosomal Recessive Faciodigitogenital Syndrome	Long philtrum, Open bite, Anteverted nares, Prominent nasal bridge, Micrognathia, Deep philtrum, ...	ORPHA:1974
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Dilated cardiomyopathy, Anteriorly placed anus, Exercise-induced rhabdomyolysis, Patent foramen o...	ORPHA:26793
Pfeiffer Syndrome Type 1	Depressed nasal bridge, Aplasia/Hypoplasia of the thumb, Short hallux, Short palm, High palate, S...	ORPHA:93258
Ileal Neuroendocrine Tumor	Hydronephrosis, Tricuspid stenosis, Intestinal fistula, Pulmonic stenosis	ORPHA:100078
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration, Cerebral cortical atrophy, Microcephaly	ORPHA:2518
Noonan Syndrome	Dilatation of the renal pelvis, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Micrognat...	ORPHA:648
Von Hippel-Lindau Disease	Upper limb muscle weakness, Cardiomyopathy, Elevated urinary catecholamine level, Stroke, Distal ...	ORPHA:892
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	High, narrow palate, Depressed nasal bridge, Peripheral pulmonary artery stenosis, Renal tubular ...	OMIM:619575
Alg11-Cdg	Cerebral atrophy, Cerebral white matter atrophy, Microcephaly, Abnormal cerebral white matter mor...	ORPHA:280071
Hyperparathyroidism-Jaw Tumor Syndrome	Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid ...	ORPHA:99880
Deeah Syndrome	Narrow palate, Retrognathia, Long philtrum, Decreased response to growth hormone stimulation test...	OMIM:619004
Chondrodysplasia Punctata 2, X-Linked Dominant	Rhizomelia, Hemiatrophy, Malar flattening, Hydronephrosis, Concave nasal ridge	OMIM:302960
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration, Abnormal neuron morphology, Periventricular leukomalacia	ORPHA:163681
Noonan Syndrome 1	High, narrow palate, Dental malocclusion, Hypertrophic cardiomyopathy, Hypogonadism, Micrognathia...	OMIM:163950
Joubert Syndrome 2	Depressed nasal bridge, Nephronophthisis, Renal insufficiency, Renal cyst, High palate, Hypoplast...	OMIM:608091
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Absent external genitalia, Aplasia of the vagina, Short ribs, Hydronephrosis, Aplasia of the uter...	OMIM:271520
Triosephosphate Isomerase Deficiency	Respiratory insufficiency, Death in infancy, Death in adolescence, Respiratory insufficiency due ...	OMIM:615512
Familial Adenomatous Polyposis 4	Gastric adenocarcinoma, Duodenal polyposis, Ovarian cyst, Renal cyst, Adenomatous colonic polypos...	OMIM:617100
Opsismodysplasia	Renal phosphate wasting, Depressed nasal bridge, Rhizomelia, Hypoplasia of the odontoid process, ...	OMIM:258480
Nicolaides-Baraitser Syndrome	Wide nasal base, High, narrow palate, Long philtrum, Thick lower lip vermilion, Widely spaced tee...	OMIM:601358
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Unde...	ORPHA:306542
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Wide nasal bridge, Broad nasal tip, Long philtrum, Prominent nasal bridge, Micrognathia, Smooth p...	OMIM:300749
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anosmia, Tooth malposition, Bifid uvula, Failure of eruption of permanent teeth, Hyposmia, Hypogo...	ORPHA:2250
Gastrointestinal Stromal Tumor	Neoplasm of the colon, Esophageal neoplasm, Neoplasm of the small intestine, Gastrointestinal str...	ORPHA:44890
Chromosome 3Q29 Duplication Syndrome	Wide nasal bridge, Bulbous nose, Short nose	OMIM:611936
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618929
Boutonneuse Fever	Respiratory failure	ORPHA:83313
Parathyroid Carcinoma	Nephrocalcinosis, Peptic ulcer, Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma...	ORPHA:143
Combined Oxidative Phosphorylation Deficiency 25	Wide nasal bridge, Depressed nasal bridge, Long philtrum, Anteverted nares, Smooth philtrum, Intr...	OMIM:616430
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Inappropriate behavior	ORPHA:309246
Schneckenbecken Dysplasia	Hypoplastic scapulae, Malar flattening, Short ribs, Limb undergrowth, Short nose, Cleft palate	OMIM:269250
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Hydronephrosis, Duplicated collecting system, Hepatosplenomegaly, Esophagitis	ORPHA:541423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Muscular dystrophy, Dilated cardiomyopathy, Skeletal muscle atrophy, Transposition of the great a...	OMIM:253800
Neu-Laxova Syndrome	Abnormal cortical gyration, Polymicrogyria, Cerebral calcification, Absent septum pellucidum, Abn...	ORPHA:2671
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory failure, Neonatal death	OMIM:616482
Sarcoidosis, Susceptibility To, 1	Emphysema, Pleural effusion, Anorexia, Abnormal pulmonary interstitial morphology, Pulmonary fibr...	OMIM:181000
Glycine Encephalopathy With Normal Serum Glycine	Dysphagia, Respiratory failure	OMIM:617301
Pontocerebellar Hypoplasia, Type 2E	Flexion contracture, Micrognathia, Short nose, Wide nose	OMIM:615851
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Renal hypoplasia, Downturned corners of mouth, Intestinal malrotation, Decreased testicular size,...	OMIM:619321
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Respiratory failure, Respiratory insufficiency	OMIM:613845
Hemorrhagic Fever-Renal Syndrome	Pneumonia, Pleural effusion, Pulmonary edema, Respiratory failure, Agitation	ORPHA:340
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Thin upper lip vermilion, Smooth philtrum, Prominent nasal tip, Progressive flexion contractures,...	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	Decreased muscle mass, Micrognathia, Cryptorchidism, Ventricular septal defect, Short hallux, Atr...	OMIM:194190
Aicardi Syndrome	Recurrent pneumonia, Metastatic angiosarcoma, Teratoma, Hemangioma, Hepatoblastoma, Lipoma, Carci...	OMIM:304050
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Stuve-Wiedemann Syndrome 1	Wide nasal base, Carious teeth, Smooth tongue, Pursed lips, Short tibia, Elbow flexion contractur...	OMIM:601559
Turnpenny-Fry Syndrome	Small hand, Narrow mouth, Mitral valve prolapse, Prominent nasal tip, Atrial septal defect, Torti...	OMIM:618371
Witteveen-Kolk Syndrome	Flared nostrils, Small hand, Male urethral meatus stenosis, Hyperplasia of the maxilla, Narrow mo...	OMIM:613406
Wiedemann-Steiner Syndrome	Wide nasal bridge, Rhizomelia, Long philtrum, Decreased response to growth hormone stimulation te...	ORPHA:319182
Lujo Hemorrhagic Fever	Dysphagia, Atelectasis	ORPHA:319213
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormality of the dentition, Short distal phalanx of finger, Micrognathia, Narrow mouth, Aplasia...	ORPHA:90154
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Renal cyst, Hepatomegaly, Steatorrhea, Fat malabsorption	ORPHA:79303
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle weakness	OMIM:220110
Bardet-Biedl Syndrome 20	Male hypogonadism, Bilateral cryptorchidism, Proteinuria, Atrial septal defect, Micropenis	OMIM:619471
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Hypertrophic cardiomyopathy, Cryptorchidism, Ventricular septal defect, Atrial septal defect, Dup...	OMIM:607721
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Arteriovenous malformation, Arterial stenosis, Micrognathia, Displa...	ORPHA:1556
Bladder Exstrophy	Recurrent urinary tract infections, Intestinal malrotation, Abnormality of the ureter, Vesicouret...	ORPHA:93930
Schwartz-Jampel Syndrome	Pursed lips, Abnormality of the ureter, Micrognathia, Narrow mouth, Myopathy, Hip contracture, Ev...	ORPHA:800
Oculocerebrorenal Syndrome Of Lowe	Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Cryptorchidism, Hematuria, Eve...	ORPHA:534
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Depressed nasal bridge, Tented upper lip vermilion, Malar flattening, Carpal bone hypoplasia, Thi...	OMIM:616723
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic nasal bridge, Hypoplastic scapulae, Severe limb shortening, H...	OMIM:200600
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Hypoplastic scapulae, Short tibia, Hepatosplenomegaly, Micrognathia, Narrow mouth, Cryptorchidism...	ORPHA:96334
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria, Neonatal death	OMIM:614887
Molybdenum Cofactor Deficiency, Type B	Increased urinary taurine, Decreased urinary urate, Long philtrum, Increased urinary hypoxanthine...	OMIM:252160
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Costello Syndrome	Depressed nasal bridge, Thick lower lip vermilion, Hypertrophic cardiomyopathy, Anteverted nares,...	OMIM:218040
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Granulomatous Disease, Chronic, X-Linked	Recurrent pneumonia, Pleural effusion, Atelectasis	OMIM:306400
Loeys-Dietz Syndrome 1	Hypoplasia of the musculature, Aortic root aneurysm, Micrognathia, Mitral valve prolapse, Bicuspi...	OMIM:609192
Dyskeratosis Congenita, X-Linked	Oropharyngeal squamous cell carcinoma, Hodgkin lymphoma, Squamous cell carcinoma, Acute myeloid l...	OMIM:305000
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Long philtrum, Micrognathia, Tented upper lip vermilion, Smooth...	OMIM:617527
Pearson Syndrome	Glycosuria, Cardiomyopathy, Abnormal heart morphology, Decreased response to growth hormone stimu...	ORPHA:699
Holoprosencephaly 1	Tessier cleft, Proboscis, Median cleft palate, Median cleft upper lip, Single ventricle, Micropen...	OMIM:236100
Spinocerebellar Ataxia-Dysmorphism Syndrome	Anteverted nares, Downturned corners of mouth, Short nose, Thick vermilion border	ORPHA:1185
Joubert Syndrome With Hepatic Defect	Nephropathy, Multicystic kidney dysplasia, Anteverted nares, Prominent nasal bridge, Renal insuff...	ORPHA:1454
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Abnormal oral mucosa morphology, Depressed nasal bridge, Conical tooth, Absent nipple, Hypoplasia...	OMIM:305100
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Menke-Hennekam Syndrome 1	Depressed nasal ridge, Recurrent upper respiratory tract infections, Depressed nasal bridge, Ever...	OMIM:618332
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Micrognathia, Short nose	ORPHA:1129
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Ankyloglossia, Ventricular septal defect, Hematuria, Bicuspid aortic valve, Torticollis, High pal...	OMIM:619475
Listeriosis	Pneumonia, Respiratory failure, Miscarriage	ORPHA:533
Plaa-Associated Neurodevelopmental Disorder	Contractures of the large joints, Long philtrum, Micrognathia, Tented upper lip vermilion, Smooth...	ORPHA:521426
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Wide nasal bridge, Depressed nasal bridge, Microretrognathia, Splenomegaly, Ventricular septal de...	OMIM:619418
Monosomy 22Q13.3	Wide nasal bridge, Dental malocclusion, Dental crowding, Bulbous nose, Recurrent pyelonephritis, ...	ORPHA:48652
Lymphatic Malformation 6	Intestinal lymphangiectasia, Micrognathia, Splenomegaly, Atrial septal defect, Varicose veins, Hy...	OMIM:616843
Intellectual Developmental Disorder, Autosomal Dominant 42	Lower limb muscle weakness, Ureteropelvic junction obstruction, Hydronephrosis, Short philtrum, N...	OMIM:616973
Bosma Arhinia Microphthalmia Syndrome	Choanal atresia, Anosmia, Cleft lip, Dental malocclusion, Cryptorchidism, Hypoplasia of teeth, Hy...	OMIM:603457
Acromelic Frontonasal Dysostosis	Periventricular nodular heterotopia, Calcification of falx cerebri, Tubulonodular pericallosal li...	OMIM:603671
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Agenesis of corpus callosum	OMIM:618733
Joubert Syndrome 1	Nephropathy, Anteverted nares, Triangular-shaped open mouth, Protruding tongue, Renal cyst, Macro...	OMIM:213300
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory failure	ORPHA:2707
Tetraamelia Syndrome 1	Choanal atresia, Absent external genitalia, Renal agenesis, Cleft upper lip, Micrognathia, Adrena...	OMIM:273395
Visceral Myopathy 1	Microcolon, Urinary retention, Megacystis, Intestinal pseudo-obstruction, Megaduodenum, Vesicoure...	OMIM:155310
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:276300
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Neonatal death, Respiratory arrest, 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	Emphysema, Pneumothorax	OMIM:614816
Constricting Bands, Congenital	Tessier cleft, Cleft upper lip, Ectopia cordis, Bladder exstrophy, Cleft palate	OMIM:217100
Cushing Syndrome Due To Ectopic Acth Secretion	Small cell lung carcinoma, Malignant gastrointestinal tract tumors, Pulmonary carcinoid tumor, Ne...	ORPHA:99889
Opsismodysplasia	Depressed nasal bridge, Splenomegaly, Hypoplastic vertebral bodies, Hepatomegaly, Short nose	ORPHA:2746
Coffin-Lowry Syndrome	Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Death in early adulthood, A...	ORPHA:192
Ebstein Anomaly	Ebstein anomaly of the tricuspid valve, Atrial septal defect	OMIM:224700
Knobloch Syndrome 1	Depressed nasal bridge, Bifid ureter, Bulbous nose, Renal duplication, Hydronephrosis, Duplicated...	OMIM:267750
Van Maldergem Syndrome 1	Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Pachygyria, Gray matter h...	OMIM:601390
Cerebrofaciothoracic Dysplasia	Cleft upper lip, Short nose, Broad philtrum, Wide mouth, Cleft palate, Wide nose	ORPHA:1394
Leigh Syndrome	Generalized aminoaciduria, Skeletal muscle atrophy, Methylmalonic aciduria, Hypertrophic cardiomy...	ORPHA:506
X-Linked Intellectual Disability, Golabi-Ito-Hall Type	Macroglossia, Atrial septal defect	ORPHA:93947
Trichothiodystrophy 1, Photosensitive	Retrognathia, Hypogonadism, Intestinal obstruction, Triangular mouth, Flexion contracture, Short ...	OMIM:601675
Neurodegeneration With Brain Iron Accumulation 2A	Micrognathia, Short nose	OMIM:256600
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Chronic kidney disease, Nephritis, Renal insufficiency, Fibular hypoplasia, Proteinuria, Renal cy...	OMIM:208500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Long philtrum, Short femoral neck, 11 pairs of ribs, Micrognathia, Malar flattening, Ventricular ...	OMIM:271640
Lmna-Related Cardiocutaneous Progeria Syndrome	Emphysema, Abnormality of the pulmonary artery	ORPHA:363618
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Respiratory failure, Death in childhood, Respiratory insufficiency	OMIM:610505
Neonatal Marfan Syndrome	Emphysema, Neonatal respiratory distress	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, Thick nasal septum, Broad columella, Dental malocclusion, Thick lower lip vermilio...	OMIM:303600
Isolated Exencephaly	Holoprosencephaly, Agenesis of corpus callosum	ORPHA:563612
Craniotubular Dysplasia, Ikegawa Type	Wide nasal bridge, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Anteverte...	OMIM:619727
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Pulmonary artery atresia, Respiratory insufficiency, Atelectasis, Pulmonary hypoplasia	OMIM:620371
Spondyloepiphyseal Dysplasia, Nishimura Type	Small hand, Short nose	OMIM:618618
Trichothiodystrophy	High, narrow palate, Carious teeth, Retrognathia, Cardiomyopathy, Gonadal dysgenesis, Cryptorchid...	ORPHA:33364
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Turner Syndrome Due To Structural X Chromosome Anomalies	Inflammation of the large intestine, Micrognathia, Gastrointestinal angiodysplasia, Renal hypopla...	ORPHA:99413
Mosaic Monosomy X	Inflammation of the large intestine, Micrognathia, Gastrointestinal angiodysplasia, Renal hypopla...	ORPHA:99228
Monosomy X	Inflammation of the large intestine, Micrognathia, Gastrointestinal angiodysplasia, Renal hypopla...	ORPHA:99226
Turner Syndrome	Inflammation of the large intestine, Micrognathia, Gastrointestinal angiodysplasia, Renal hypopla...	ORPHA:881
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Sponastrime Dysplasia	Aplasia of the nasal bone, Hypoplasia of the nasal bone, Short foot, Hypospadias, Short dental ro...	ORPHA:93357
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
6Q Terminal Deletion Syndrome	Abnormal cerebral cortex morphology, Polymicrogyria, Periventricular heterotopia, Hypoplasia of t...	ORPHA:75857
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Flexion contracture, High palate, Open mouth, Ventricular septal defect	OMIM:614653
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Hydronephrosis, Duplicated collecting system	OMIM:617093
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Mesomelia, Depressed nasal bridge, Abnormality of the dentition, Rhizomelia, Bulbous nose, Anteve...	OMIM:271510
Frontofacionasal Dysplasia	Bifid uvula, Hypoplasia of the frontal bone, Underdeveloped nasal alae, Cleft upper lip, Midline ...	OMIM:229400
Distal Renal Tubular Acidosis	Aminoaciduria, Nephrocalcinosis, Proximal tubulopathy, Low-molecular-weight proteinuria, Decrease...	ORPHA:18
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Stillbirth	OMIM:259720
Mietens Syndrome	Wide nasal bridge, Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Wide nose	ORPHA:2557
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Lenz-Majewski Hyperostotic Dwarfism	Cerebral cortical atrophy, Agenesis of corpus callosum, Dysplastic corpus callosum, Microcephaly,...	OMIM:151050
Cadds	Micrognathia, Short nose	ORPHA:369942
Lymphatic Malformation 7	Pericardial effusion, Atrial septal defect, Varicose veins	OMIM:617300
Mody	Nephropathy, Glycosuria, Pancreatic hypoplasia, Renal cyst, Abnormality of the kidney	ORPHA:552
Jaberi-Elahi Syndrome	Triangular mouth, Depressed nasal bridge, Short nose	OMIM:617988
Combined Oxidative Phosphorylation Deficiency 15	Ventricular septal hypertrophy, Small hand, Ventricular septal defect	OMIM:614947
Yunis-Varon Syndrome	Hypoplastic scapulae, Micrognathia, Cryptorchidism, Ventricular septal defect, Absent sternal oss...	OMIM:216340
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Squamous cell carcinoma	OMIM:618373
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Ventricular hypertrophy, Rhizomelia, Short distal phalanx of finger, Delay...	OMIM:143095
Branchiooculofacial Syndrome	Depressed nasal bridge, Abnormality of the dentition, Broad nasal tip, Renal agenesis, Cleft uppe...	OMIM:113620
Aspartylglucosaminuria	Wide nasal bridge, Abnormality of the dentition, Carious teeth, Aspartylglucosaminuria, Gingival ...	ORPHA:93
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Epistaxis, Short distal phalanx of finger, Short nose, Cerebral hemorrhage	OMIM:277450
Spondyloocular Syndrome	Abnormality of the dentition, Mitral valve prolapse, Atrial septal defect, Dysplastic aortic valv...	OMIM:605822
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Partial agenesis of the corpus callosum, Hydrocephalus	OMIM:305450
Ehlers-Danlos Syndrome, Vascular Type	Diffuse alveolar hemorrhage, Spontaneous pneumothorax, Emphysema, Nodular pattern on pulmonary HR...	OMIM:130050
Galloway-Mowat Syndrome 1	Cerebral atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Abnormality of neuro...	OMIM:251300
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the odontoid process, Micromelia, Lo...	OMIM:271665
Osteogenesis Imperfecta, Type Vii	Dentinogenesis imperfecta, Rhizomelia, Micromelia, Long philtrum, Absent pulmonary artery, Hydron...	OMIM:610682
Zygomycosis	Pneumothorax, Pleural effusion, Acute infectious pneumonia, Atelectasis	ORPHA:73263
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure	OMIM:616538
Dend Syndrome	Long philtrum, Anteverted nares, Downturned corners of mouth, Short nose	ORPHA:79134
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Hypocalciuric Hypercalcemia, Familial, Type Iii	Peptic ulcer, Hypocalciuria, Multiple small medullary renal cysts, Renal insufficiency, Nephrolit...	OMIM:600740
Mitochondrial Complex I Deficiency, Nuclear Type 1	Respiratory failure, Death in infancy, Respiratory insufficiency	OMIM:252010
Combined Immunodeficiency-Enteropathy Spectrum	Jejunoileal ulceration, Intestinal malrotation, Ventricular septal defect, Hypoplasia of the thym...	ORPHA:436252
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Unilateral renal agenesis, Multicystic kidney dysplasia, Recurrent upper respiratory tract infect...	OMIM:308205
Cutis Laxa, Autosomal Recessive, Type Ib	Pulmonary artery aneurysm, Pulmonary artery dilatation, Emphysema, Death in childhood, Neonatal d...	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	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia, Hypop...	OMIM:615546
Eisenmenger Syndrome	Bacterial endocarditis, Abnormal heart morphology, Tetralogy of Fallot, Atrioventricular canal de...	ORPHA:97214
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Immunodeficiency 87 And Autoimmunity	Atrophic gastritis, Dilated cardiomyopathy, Biventricular hypertrophy, Atrioventricular canal def...	OMIM:619573
Relapsing Polychondritis	Atelectasis	ORPHA:728
Periventricular Nodular Heterotopia 9	Polymicrogyria, Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Microceph...	OMIM:618918
Pituitary Adenoma 4, Acth-Secreting	Abnormal fear-induced behavior, Emotional lability	OMIM:219090
Proteus Syndrome	Depressed nasal bridge, Long penis, Arteriovenous malformation, Thymus hyperplasia, Carious teeth...	ORPHA:744
Spondylometaphyseal Dysplasia, Sedaghatian Type	Depressed nasal bridge, Rhizomelia, Short toe, Short finger, 11 pairs of ribs, Short ribs, Atrial...	OMIM:250220
Von Hippel-Lindau Syndrome	Pancreatic cysts, Pheochromocytoma, Multiple renal cysts, Renal cell carcinoma, Epididymal cyst, ...	OMIM:193300
Steinert Myotonic Dystrophy	Oral-pharyngeal dysphagia, Respiratory insufficiency, Obsessive-compulsive trait, Aggressive beha...	ORPHA:273
Pmm2-Cdg	Increased circulating prolactin concentration, Aplasia of the ovary, Elevated circulating growth ...	ORPHA:79318
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2754
1P21.3 Microdeletion Syndrome	Micrognathia, Broad nasal tip, Wide mouth, Short nose	ORPHA:293948
Sarcoidosis	Chylothorax, Emphysema, Abnormal pleura morphology, Pleural effusion, Pneumothorax, Abnormal nasa...	ORPHA:797
Autosomal Dominant Cutis Laxa	Emphysema, Peripheral pulmonary artery stenosis, Bronchiolitis, Bronchiectasis	ORPHA:90348
Abetalipoproteinemia	Respiratory failure	ORPHA:14
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nasal bridge, Long philtrum, Anteverted nares, Atrial septal defect, Thick vermilion border,...	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	Short toe, Short metacarpal, Hypoplasia of the radius, Short metatarsal, Acromesomelia, Short nose	OMIM:602875
Marfan Syndrome	Emphysema, Spontaneous pneumothorax, Pulmonary artery dilatation, Attention deficit hyperactivity...	ORPHA:558
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Marfan Syndrome	Emphysema, Pneumothorax, Pulmonary artery dilatation	OMIM:154700
Bilateral Perisylvian Polymicrogyria	Abnormality of neuronal migration, Microcephaly, Bilateral perisylvian polymicrogyria, Perisylvia...	ORPHA:98889
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Ear-Patella-Short Stature Syndrome	Respiratory failure	ORPHA:2554
Lipodystrophy, Familial Partial, Type 7	Lower limb muscle weakness, Narrow mouth, Pulmonary arteriovenous malformation, Narrow nasal ridg...	OMIM:606721
Microphthalmia With Linear Skin Defects Syndrome	Respiratory failure	ORPHA:2556
Osteoporosis-Pseudoglioma Syndrome	Ventricular septal defect	OMIM:259770
Pituitary Stalk Interruption Syndrome	Ectopic posterior pituitary, Hypoplasia of penis, Cryptorchidism	ORPHA:95496
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ectopic posterior pituitary, Anterior pituitary agenesis, Anterior pituitary hypoplasia	OMIM:620303
Nystagmus 8, Congenital, Autosomal Recessive		OMIM:257400

Histopathology

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

There is no histopathology data for Robo1

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

IMPC related publications

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

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

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

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

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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Gene: Robo1 MGI:1274781

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

X-ray

MicroCT E18.5

Human diseases caused by Robo1 mutations

Histopathology

IMPC related publications

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Access Data Release 21.1 Data