Gene Summary

Name:
roundabout guidance receptor 1
Synonyms:
DUTT1

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 System Allele Zyg Sex Life Stage P Value
no spontaneous movement Robo1em1(IMPC)Mbp HOM E18.5 0.00
no spontaneous movement Robo1em1(IMPC)Mbp HET E18.5 0.00
decreased locomotor activity Robo1em1(IMPC)Mbp HET Early adult 6.01×10-06
preweaning lethality, incomplete penetrance Robo1em1(IMPC)Mbp HOM   Early adult 0.00
decreased thigmotaxis Robo1em1(IMPC)Mbp HET Early adult 5.53×10-08
abnormal behavior Robo1em1(IMPC)Mbp HET Early adult 9.18×10-07
preweaning lethality, complete penetrance Robo1em1(IMPC)Mbp HOM Early adult 0.00
decreased anxiety-related response Robo1em1(IMPC)Mbp HET Early adult 2.40×10-05

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Viewing: all phenotypes

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

X-ray

XRay Images Whole Body Dorso Ventral

120 Images

MicroCT E18.5

Embryo reconstruction

8 Images

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.

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

Disease Similarity of
phenotypes
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 Similarity of
phenotypes
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