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
decreased anxiety-related response Robo1em1(IMPC)Mbp HET Early adult 1.52×10-06
no spontaneous movement Robo1em1(IMPC)Mbp HET E18.5 0.00
abnormal behavior Robo1em1(IMPC)Mbp HET Early adult 6.92×10-07
preweaning lethality, incomplete penetrance Robo1em1(IMPC)Mbp HOM   Early adult 0.00
abnormal bone structure Robo1em1(IMPC)Mbp HET Early adult 1.85×10-06
decreased thigmotaxis Robo1em1(IMPC)Mbp HET Early adult 6.92×10-07
no spontaneous movement Robo1em1(IMPC)Mbp HOM E18.5 0.00
decreased bone mineral content Robo1em1(IMPC)Mbp HET Early adult 3.51×10-05

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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 Dorso Ventral

60 Images

X-ray

XRay Images Whole Body Lateral Orientation

20 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
Pituitary Stalk Interruption Syndrome
Ectopic posterior pituitary, Hypoplasia of penis, Cryptorchidism ORPHA:95496

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Lung Cancer
Non-small cell lung carcinoma, Alveolar cell carcinoma, Lung adenocarcinoma OMIM:211980
Rhabdoid Tumor Predisposition Syndrome 2
Neoplasm of the central nervous system, Carcinoma OMIM:613325
Tumor Predisposition Syndrome
Cutaneous melanoma, Meningioma, Lung adenocarcinoma, Renal cell carcinoma, Uveal melanoma OMIM:614327
Colorectal Cancer, Susceptibility To, 12
Colorectal polyposis, Carcinoma OMIM:615083
Small Cell Cancer Of The Lung
Neoplasm of the lung OMIM:182280
Genitopalatocardiac Syndrome
Hypospadias, Ventricular septal defect, Cleft palate, Gonadal dysgenesis, male, Micrognathia, Cle... OMIM:231060
Lichen Sclerosus Et Atrophicus
Squamous cell carcinoma, Carcinoma OMIM:151590
Li-Fraumeni Syndrome
Adrenocortical carcinoma, Prostate neoplasm, Choriocarcinoma, Acute leukemia, Lung adenocarcinoma... OMIM:151623
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Intellectual Developmental Disorder, Autosomal Recessive 54
Hyperactivity OMIM:617028
Schizophrenia 15
Hyperactivity OMIM:613950
Reticulum Cell Sarcoma
Sarcoma, Neoplasm OMIM:267730
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Polymicrogyria, Hydrocephalu... OMIM:604213
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... ORPHA:101029
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Severe Primary Trimethylaminuria
Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity, Anxiety, Depression ORPHA:468726
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Band Heterotopia
Subcortical band heterotopia, Polymicrogyria, Hydrocephalus, Gray matter heterotopia, Agenesis of... OMIM:600348
Cerebral Sarcoma
Fibrosarcoma, Neoplasm OMIM:117600
Emphysema, Hereditary Pulmonary
Chronic pulmonary obstruction, Emphysema, Chronic bronchitis OMIM:130700
Lissencephaly, X-Linked, 1
Death in infancy, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly, Agenesis of corpus ... OMIM:300067
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness
Hydronephrosis, Hydroureter, Pulmonic stenosis OMIM:264140
Li-Fraumeni Syndrome 2
Meningioma, Stomach cancer, Breast carcinoma, Sarcoma, Glioma OMIM:609265
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Lissencephaly, Pachygyria, Agyria, Gray matter heterotopia, Hypopla... OMIM:615411
Renal Caliceal Diverticuli-Deafness Syndrome
Hydronephrosis, Abnormality of the urinary system, Abnormality of the upper urinary tract, Hydrou... ORPHA:2838
Melanoma-Pancreatic Cancer Syndrome
Pancreatic squamous cell carcinoma, Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcin... OMIM:606719
Schizencephaly
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy OMIM:269160
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... OMIM:604317
Lissencephaly 3
Lissencephaly, Pachygyria, Polymicrogyria, Agyria, Gray matter heterotopia, Hypoplasia of the cor... OMIM:611603
Congenital Anomalies Of Kidney And Urinary Tract 2
Cystic renal dysplasia, Renal hypoplasia, Hydronephrosis, Renal sarcoma, Nephrotic syndrome, Cong... OMIM:143400
Congenital Primary Megaureter
Hydronephrosis, Abnormal penis morphology, Congenital megaureter, Nephrolithiasis, Recurrent urin... ORPHA:617
Prune Belly Syndrome
Volvulus, Patent ductus arteriosus, Urogenital sinus anomaly, Intestinal atresia, Abnormality of ... ORPHA:2970
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Unilateral polymicrogyria, Lissencephaly, Pachygyria, Hypoplasia of the corpus callosum, Agenesis... OMIM:610031
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Colorectal Cancer, Susceptibility To, 10
Endometrial carcinoma, Colorectal polyposis, Carcinoma OMIM:612591
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Craniofacial Conodysplasia
Hydrocephalus, Spinal cord compression ORPHA:85168
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Cortical dysplasia, Mi... OMIM:615412
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Nephronophthisis 16
Hypertrophic cardiomyopathy, Situs inversus totalis, Nephronophthisis, Patent ductus arteriosus, ... OMIM:615382
Microlissencephaly
Periventricular heterotopia, Neuronal loss in the cerebral cortex, Simplified gyral pattern, Liss... ORPHA:1083
Dysmyelination With Jaundice
Hydronephrosis, Hypoplasia of penis, Cryptorchidism, Hydroureter OMIM:224250
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Micrognathia, Duodenal stenosis, Hydroureter, Patent ductus arteriosus, Abnormality of the upper ... ORPHA:2547
Lissencephaly 1
Subcortical band heterotopia, Pachygyria, Agyria, Abnormal cerebral white matter morphology, Gray... OMIM:607432
Lissencephaly 4
Microcephaly, Lissencephaly, Agenesis of corpus callosum, Simplified gyral pattern OMIM:614019
Pierre Robin Syndrome
Cor pulmonale, Micrognathia, Cleft palate, Pierre-Robin sequence, Glossoptosis OMIM:261800
Neuroendocrine Carcinoma Of Salivary Glands, Sensorineural Hearing Loss, And Enamel Hypoplasia
Unilateral vestibular Schwannoma, Carcinoma OMIM:603641
Congenital Pulmonary Airway Malformation
Respiratory insufficiency, Abnormal pleura morphology ORPHA:2444
Testicular Anomalies With Or Without Congenital Heart Disease
Testicular dysgenesis, Micropenis, Ambiguous genitalia, Tetralogy of Fallot, Perineal hypospadias... OMIM:615542
Prune Belly Syndrome
Urethral valve, Hydronephrosis, Congenital posterior urethral valve, Xerostomia, Abnormal heart m... OMIM:100100
Interstitial Pneumonitis, Desquamative, Familial
Desquamative interstitial pneumonitis, Tachypnea, Cough, Respiratory distress, Recurrent upper re... OMIM:263000
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Tetralogy of Fallot, Pulmonic stenosis OMIM:601127
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency ORPHA:1202
Mental Retardation, Autosomal Recessive 25
Anxiety OMIM:614346
Panic Disorder 1
Anxiety OMIM:167870
Polycystic Kidney Disease 5
Hyperechogenic kidneys, Polycystic kidney dysplasia, Stage 5 chronic kidney disease OMIM:617610
Surfactant Metabolism Dysfunction, Pulmonary, 3
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Nonspecif... OMIM:610921
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Hydronephrosis, Duplicated collecting system OMIM:163850
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Lissencephaly, Polymicrogyria, Hypoplasia of the corpus callosum, Cortical dysplasia, Agenesis of... OMIM:614039
Fanconi Anemia, Complementation Group O
Hydronephrosis, Abnormal heart morphology, External genital hypoplasia, Renal cyst, Stage 5 chron... OMIM:613390
Mandibulofacial Dysostosis With Alopecia
Bicuspid aortic valve, Micrognathia, Cleft palate, Glossoptosis, Delayed eruption of primary teet... OMIM:616367
Nephronophthisis 14
Situs inversus totalis, Polycystic kidney dysplasia, Nephronophthisis OMIM:614844
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum OMIM:619101
Surfactant Metabolism Dysfunction, Pulmonary, 1
Desquamative interstitial pneumonitis, Neonatal respiratory distress, Death in infancy, Tachypnea... OMIM:265120
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Bicuspid aortic valve, Double outlet right ventricle, Patent ductus arteriosus, Bilateral renal a... OMIM:618845
Vesicoureteral Reflux 3
Hydronephrosis, Hydroureter, Vesicoureteral reflux OMIM:613674
Ritscher-Schinzel Syndrome 1
Hypospadias, Ventricular septal defect, Hydronephrosis, Cleft palate, Micrognathia, Double outlet... OMIM:220210
Obsessive-Compulsive Disorder
Skin-picking, Anxiety, Depression OMIM:164230
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Abnormality of lower lip, Mi... ORPHA:1166
Recombinant Chromosome 8 Syndrome
Thick lower lip vermilion, Ventricular septal defect, Hydronephrosis, Micrognathia, Double outlet... OMIM:179613
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dysphagia, Cough, Respiratory failure, Dyspnea, Respiratory failure requiring assisted ventilatio... ORPHA:90117
Bronchopulmonary Dysplasia
Wheezing, Central apnea, Hyperoxemia, Abnormal respiratory system physiology, Tracheobronchomalac... ORPHA:70589
Urofacial Syndrome 1
Urethral valve, Hydronephrosis, Recurrent urinary tract infections, Cryptorchidism, Enuresis, Ure... OMIM:236730
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Abnormal cerebral cortex morphology, Abnormal neuron morphology, Abnormal ... ORPHA:329228
8P23.1 Duplication Syndrome
Ventricular septal defect, Hydronephrosis, Long philtrum, Pulmonic stenosis, Tetralogy of Fallot,... ORPHA:251076
Paget Disease Of Bone 6
Left ventricular hypertrophy, Coronary artery atherosclerosis, Nephrocalcinosis OMIM:616833
Rowley-Rosenberg Syndrome
Cor pulmonale, Aminoaciduria, Right ventricular hypertrophy OMIM:268500
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... ORPHA:500166
Renal Hypodysplasia/Aplasia 3
Horseshoe kidney, Hydronephrosis, Renal agenesis, Renal dysplasia, Abnormality of the uterus, Mul... OMIM:617805
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Chronic bronchitis, Panacinar emphysema, Dyspnea OMIM:613490
Nut Midline Carcinoma
Neuroblastoma, Pancreatic squamous cell carcinoma, Leukemia, Oropharyngeal squamous cell carcinom... ORPHA:443167
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Polymicrogyria, Agenesis of corpus callosum, Primary microcephaly ORPHA:171703
Microcephaly-Capillary Malformation Syndrome
Ventricular septal defect, Cleft palate, Right ventricular hypertrophy, Atrial septal defect, Sho... OMIM:614261
Diabetic Embryopathy
Abnormal aortic morphology, Ventricular septal defect, Aplasia/Hypoplasia of the abdominal wall m... ORPHA:1926
Congenital Disorder Of Glycosylation, Type Iig
Hypospadias, Hydronephrosis, Cleft palate, Smooth philtrum, Pierre-Robin sequence, High palate, M... OMIM:611209
Cardiomyopathy, Familial Restrictive, 1
Left atrial enlargement, Restrictive cardiomyopathy, Left ventricular hypertrophy OMIM:115210
Idiopathic Bronchiectasis
Wheezing, Productive cough, Abnormal respiratory system physiology, Crackles, Bronchiectasis, Red... ORPHA:60033
Meckel Syndrome 13
Polycystic kidney dysplasia, Micrognathia, Flexion contracture OMIM:617562
Craniostenosis, Sagittal, With Congenital Heart Disease, Mental Deficiency, And Mandibular Ankylosis
Micrognathia, Abnormal heart morphology, Micropenis, Cryptorchidism, Microphallus, Trismus OMIM:218450
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies
Abnormal cortical gyration, Aplasia/Hypoplasia of the pyramidal tract, Neonatal death, Polymicrog... OMIM:619602
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia, Progressive microcephaly, Hypop... OMIM:608097
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Wheezing, Honeycomb lung, Hypoxemia, Chronic bronchitis, Chronic pulmonary obstruction, Bronchiec... ORPHA:79127
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Lung adenocarcinoma, Interlobular septal thi... ORPHA:2302
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Cardiomyopathy, Left ventricular hype... OMIM:611556
Trisomy 17P
Urethral valve, Hydronephrosis, Cleft palate, Skeletal muscle atrophy, Hypoplasia of penis, Ureth... ORPHA:261290
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Hydrocephalus, Cortical d... OMIM:618709
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Dysplastic corpus callosum OMIM:613162
Muir-Torre Syndrome
Sebaceous gland carcinoma, Malignant genitourinary tract tumor, Benign gastrointestinal tract tum... OMIM:158320
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Ventricular septal defect, Tetralogy of Fallot, Hypoplastic right heart, Micrognathia OMIM:601348
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Schizencephaly, Dysgenesis of the basal ganglia, Abnormal caudate nuc... ORPHA:300573
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Micrognathia, Nephrocalcinosis, Right ventricular hypertrophy, Renal t... OMIM:208085
Thomas Syndrome
Cleft palate, Cleft upper lip, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Hypoplasti... ORPHA:3316
Peroxisome Biogenesis Disorder 3A (Zellweger)
Hepatomegaly, Polycystic kidney dysplasia, Vascular dilatation OMIM:614859
Mirror Movements 1
Agenesis of corpus callosum OMIM:157600
Thymic Aplasia With Fetal Death
Ureteral agenesis, Renal agenesis, Truncus arteriosus OMIM:274210
Idiopathic Acute Eosinophilic Pneumonia
Respiratory insufficiency, Abnormal pattern of respiration, Cough, Abnormal pleura morphology, Re... ORPHA:724
Surfactant Metabolism Dysfunction, Pulmonary, 2
Desquamative interstitial pneumonitis, Nonspecific interstitial pneumonia, Spontaneous pneumothor... OMIM:610913
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Squamous cell carcinoma OMIM:618267
Noonan Syndrome 9
Ventricular septal defect, Coarctation of aorta, Pulmonic stenosis, Cryptorchidism, Hydroureter OMIM:616559
Renal Dysplasia
Abnormal renal calyx morphology, Chronic kidney disease, Abnormal nephron morphology, Vesicovagin... ORPHA:93108
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal hypoplasia, Ventricular septal defect, Micrognathia, Truncus arteriosus, Renal cyst, Mesome... OMIM:228940
Congenital Heart Defects, Multiple Types, 5
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, Double outlet right ven... OMIM:617912
Congenital Absence Of Upper Arm And Forearm With Hand Present
Cleft palate, Renal agenesis, Abnormal heart morphology, Congenital malformation of the great art... ORPHA:294975
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Simplified gyral pattern, Hypoplasia of the corpus callosum, Cortical dysp... OMIM:608716
Megabladder, Congenital
Left ventricular noncompaction cardiomyopathy, Bicuspid aortic valve, Ventricular septal defect, ... OMIM:618719
Polymicrogyria With Optic Nerve Hypoplasia
Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum, Polymicrogyria ORPHA:250972
Frontometaphyseal Dysplasia 1
Cor pulmonale, Ankle flexion contracture, Hydronephrosis, High palate, Mitral valve prolapse, Ske... OMIM:305620
Femoral-Facial Syndrome
Micrognathia, Cleft palate, Long penis, Long philtrum, Abnormal localization of kidney, Renal hyp... ORPHA:1988
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular noncompaction, Left ventricu... OMIM:613424
Cayler Cardiofacial Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent ductus arteriosus OMIM:125520
Ring Chromosome 8 Syndrome
Abnormal palate morphology, Hydronephrosis, Abnormality of the ureter ORPHA:1450
Congenitally Uncorrected Transposition Of The Great Arteries
Interrupted aortic arch, Hepatomegaly, Ventricular septal defect, Abnormal aortic arch morphology... ORPHA:860
Classic Multiminicore Myopathy
Increased muscle lipid content, Mitral valve prolapse, High palate, Weakness of facial musculatur... ORPHA:324604
Distal Tetrasomy 15Q
Horseshoe kidney, Hydronephrosis, High palate, Micrognathia, Abnormal heart morphology, Abnormal ... ORPHA:314588
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease
Mitral valve prolapse, Cerebral berry aneurysm, Hepatic cysts, Colonic diverticula, Polycystic ki... OMIM:173900
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Holzgreve Syndrome
Renal hypoplasia, Cleft palate, Renal agenesis, Cleft upper lip, Hypoplastic left heart OMIM:236110
Tetraamelia Syndrome 2
Ventricular septal defect, Micrognathia, Microretrognathia, Hypoplastic pulmonary veins, Glossopt... OMIM:618021
Chromosome 19Q13.11 Deletion Syndrome, Proximal
Pyloric stenosis, Nephrolithiasis, Vascular dilatation, Vesicoureteral reflux, Hydroureter OMIM:617219
46,Xx Disorder Of Sex Development-Anorectal Anomalies Syndrome
Hydronephrosis, Abnormal internal genitalia, Aplasia/Hypoplasia of the radius, Intestinal malrota... ORPHA:2973
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Ventricular septal defect, Nephrocalcinosis, Right ventricular hypertrophy, Renal tubular acidosi... OMIM:613404
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome
Abnormality of the urinary system, Hydronephrosis, Bifid uvula ORPHA:2669
Mmep Syndrome
Ventricular septal defect, Mandibular prognathia, Cryptorchidism, Median cleft lip, Oral cleft ORPHA:3434
Marden-Walker Syndrome
Hypospadias, Pyloric stenosis, Cleft palate, Renal dysplasia, Camptodactyly of finger, Abnormal a... ORPHA:2461
Cardiac Valvular Defect, Developmental
Hydronephrosis, Tricuspid atresia, Mitral valve prolapse, Arteria lusoria, Mitral stenosis, Tricu... OMIM:212093
Mitochondrial Complex I Deficiency, Nuclear Type 18
Hydronephrosis, Hydroureter OMIM:618240
Cardiomyopathy, Familial Hypertrophic, 21
Left ventricular hypertrophy, Mitral valve prolapse, Cardiomyopathy OMIM:614676
Cheilitis Glandularis
Squamous cell carcinoma, Carcinoma OMIM:118330
Carpenter Syndrome 1
Ventricular septal defect, Hydronephrosis, High palate, Micrognathia, Aplasia/Hypoplasia of the m... OMIM:201000
X-Linked Neurodegenerative Syndrome, Bertini Type
Death in infancy, Agenesis of corpus callosum ORPHA:85334
Faciocardiorenal Syndrome
Horseshoe kidney, Decreased muscle mass, Cleft palate, Hypodontia, Micrognathia, Hypoplastic phil... OMIM:227280
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Skeletal muscle hypertrophy, Macroglossia, Facial palsy, Congenital muscular dystrophy, Left vent... OMIM:613156
Bardet-Biedl Syndrome 10
Renal insufficiency, Renal cyst, Abnormality of the kidney, Hypogonadism OMIM:615987
Allergic Bronchopulmonary Aspergillosis
Respiratory insufficiency, Bronchiectasis, Pulmonary arterial hypertension, Cough, Asthma, Emphysema ORPHA:1164
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Patent ductus arteriosu... OMIM:604169
Phenobarbital Embryopathy
Hypospadias, Aplasia/Hypoplasia of fingers, Abnormal mitral valve morphology, Mandibular prognath... ORPHA:1919
Indomethacin Embryofetopathy
Ventricular septal defect, Cardiomyopathy, Multicystic kidney dysplasia, Atrial septal defect, Ab... ORPHA:1909
Recurrent Respiratory Papillomatosis
Wheezing, Dysphagia, Stridor, Respiratory insufficiency, Tachypnea, Choking episodes, Upper airwa... ORPHA:60032
Cystic Hamartoma Of Lung And Kidney
Recurrent respiratory infections, Respiratory insufficiency, Pulmonary fibrosis ORPHA:2111
2p15-16.1 microdeletion syndrome
Hydronephrosis, Camptodactyly of finger DECIPHER:70
Weyers Ulnar Ray/Oligodactyly Syndrome
Hydronephrosis, High palate, Cleft palate, Micrognathia, Hand oligodactyly, Cleft upper lip, Soli... OMIM:602418
Atrial Septal Defect 2
Atrioventricular canal defect, Ventricular septal defect, Atrial septal defect OMIM:607941
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Bicuspid aortic valve, Cleft palate, Dysplastic tricuspid valve, Duodenal atresia, P... OMIM:265380
Meckel Syndrome, Type 7
Pancreatic cysts, Right ventricular hypertrophy, Situs inversus totalis, Multiple glomerular cyst... OMIM:267010
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Ellis Van Creveld Syndrome
Hypospadias, Abnormal morphology of female internal genitalia, Delayed eruption of teeth, Dextroc... ORPHA:289
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease
Dextrocardia, Situs inversus totalis, Hepatic cysts, Stage 5 chronic kidney disease, Recurrent ur... OMIM:613095
Trisomy 1Q
Ventricular septal defect, Hydronephrosis, Cleft palate, Congenital diaphragmatic hernia, Congeni... ORPHA:261344
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Hypoplasia of the corpus callosum, Cortical dysplasia, Gray ... OMIM:617201
Bazex Syndrome
Liposarcoma, Neoplasm, Lung adenocarcinoma ORPHA:166113
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Exertional dyspnea, Multiple pulm... ORPHA:723
Thymic-Renal-Anal-Lung Dysplasia
Ureteral agenesis, Renal agenesis, Ureteral dysgenesis, Anal atresia OMIM:274265
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Myopathy, Nephrotic syndrome, Cardiomegaly, Cardiomyopathy, Left ventricular hypert... OMIM:617713
Codas Syndrome
Ventricular septal defect, Abnormal dental enamel morphology, Delayed eruption of teeth, Abnormal... ORPHA:1458
Urofacial Syndrome 2
Hydronephrosis, Urinary urgency, Recurrent urinary tract infections, Vesicoureteral reflux, Enure... OMIM:615112
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage OMIM:178550
Combined Oxidative Phosphorylation Deficiency 51
Respiratory failure, Neonatal respiratory distress, Aspiration pneumonia OMIM:619057
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Bardet-Biedl Syndrome 16
Renal agenesis, Renal dysplasia, External genital hypoplasia, Renal cyst, Hypogonadism, Renal ins... OMIM:615993
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Right ventricular hypertrophy, Macroglossia, Achilles tendon contracture, Scapular winging, EMG: ... ORPHA:353
Glioma Susceptibility 9
Leukemia, Glioma, Astrocytoma OMIM:616568
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Gingival bleeding, Right ventricular hypertrophy, Volvulus, Left ventri... ORPHA:335
Gillessen-Kaesbach-Nishimura Syndrome
Micrognathia, Smooth philtrum, Abnormal heart morphology, Congenital diaphragmatic hernia, Bicorn... OMIM:263210
Cheilitis Glandularis
Squamous cell carcinoma, Neoplasm ORPHA:1221
Renal Dysplasia, Cystic, Susceptibility To
Cystic renal dysplasia, Renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal ins... OMIM:601331
RCAD (renal cysts and diabetes)
Multiple renal cysts DECIPHER:47
Ciliary Dyskinesia, Primary, 44
Neonatal respiratory distress, Reduced forced expiratory volume in one second, Bronchiectasis, Re... OMIM:618781
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Cleft palate, Truncus arteriosus, Short distal phalanx of finger, Unil... OMIM:601355
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Corpus Callosum, Agenesis Of
Agenesis of corpus callosum, Microcephaly OMIM:217990
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Ventricular septal defect, Smooth philtrum, Double outlet right ventricle, Patent du... OMIM:618316
Hyperparathyroidism 2 With Jaw Tumors
Parathyroid carcinoma, Pancreatic adenocarcinoma, Renal cortical adenoma, Nephrolithiasis, Polycy... OMIM:145001
Czeizel-Losonci Syndrome
Dextrocardia, Hydronephrosis, High palate, Hypoplastic nipples, Myelomeningocele, Micrognathia, A... ORPHA:2437
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Abnormal renal corticomedullary differentiation, Renal dysplasia, F... OMIM:616733
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Respiratory tract infection, Pulmonary edema, Respiratory failur... ORPHA:70587
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects
Ventricular septal defect, Subvalvular aortic stenosis, Left ventricular hypertrophy, Tetralogy o... OMIM:108900
Fanconi Renotubular Syndrome 5
Emphysema, Pulmonary fibrosis, Lung adenocarcinoma OMIM:618913
Nephrotic Syndrome, Type 11
Dilated cardiomyopathy, Renal tubular atrophy, Ventricular septal defect, Focal segmental glomeru... OMIM:616730
Congenital Anomalies Of Kidney And Urinary Tract 3
Ectopic kidney, Hydronephrosis, Renal cyst, Vesicoureteral reflux OMIM:618270
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Endocardial fibroelastosis, Cardiomyocyte hypertrop... OMIM:612158
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypospadias, Renal hypoplasia, Cleft palate, High palate, Microdontia, Short lingual frenulum, Hy... OMIM:614091
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Hydronephrosis, Cleft palate, Smooth philtrum... ORPHA:1727
Myopathy, Congenital, Progressive, With Scoliosis
Hydronephrosis, High palate, Skeletal muscle atrophy, Micrognathia, Renal atrophy, Facial hypoton... OMIM:618578
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Right ventricular dilatation, Skeletal muscle atrophy, Right ventricular hypertrophy, Muscular dy... OMIM:253700
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly OMIM:618276
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular septal hypertrophy, Left ventric... OMIM:615248
Cardiomyopathy, Familial Hypertrophic, 18
Left ventricular hypertrophy, Cardiomyopathy OMIM:613874
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Bilateral lung agenesis, Neonatal death, Respiratory insufficiency OMIM:601612
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle,... OMIM:613854
Bardet-Biedl Syndrome 6
Hypospadias, External genital hypoplasia, Renal cyst OMIM:605231
Usher Syndrome, Type 1M
Left ventricular hypertrophy OMIM:618632
Encephalopathy Due To Prosaposin Deficiency
Recurrent respiratory infections, Death in infancy, Respiratory insufficiency ORPHA:139406
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Dysgyria, Hydrocephalus, Abnormal cerebral white matter morphology, Gray matter heterotopia, Type... ORPHA:352682
Congenital Disorder Of Glycosylation, Type Il
Hepatomegaly, Pericardial effusion, Wide mouth, Long philtrum, Hepatosplenomegaly, Polycystic kid... OMIM:608776
Pallister-Hall Syndrome
Cleft palate, Renal dysplasia, Decreased response to growth hormone stimulation test, Microglossi... OMIM:146510
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Fetal Akinesia Syndrome, X-Linked
Arrhinencephaly, Agenesis of corpus callosum, Stillbirth OMIM:300073
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Bicuspid aortic valve, Ventricular septal defect, Cleft palate, Smooth philtrum, High palate, Mic... OMIM:610759
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Pachygyria, Gray matter heterotopia, Agenesis of corpus callosum... ORPHA:2512
Autosomal Recessive Centronuclear Myopathy
High palate, Hip contracture, Facial diplegia, Generalized amyotrophy, Facial palsy, Scapular win... ORPHA:169186
Familial Visceral Myopathy
Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Aganglionic megacolon, Microg... ORPHA:2604
Acute Interstitial Pneumonia
Reticulonodular pattern on pulmonary HRCT, Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Interl... ORPHA:79126
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Hydronephrosis, Cleft palate, Aplasia of the uterus, Hypoparathyroidism, Abnormal heart morpholog... ORPHA:2237
Autosomal Recessive Amelia
Amelia, Micrognathia, Amelia involving the upper limbs, Small scrotum, Non-midline cleft lip, Abn... ORPHA:1027
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Pancreatic cysts, Renal dysplasia, Hepatic cysts, Bile duct proliferation, Patent d... OMIM:208540
Fetal Minoxidil Syndrome
Ventricular septal defect, Micrognathia, Cryptorchidism ORPHA:1918
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Left ventricular hypertrophy, Ventricular hypertrophy, Hepatomegaly, Increased urine succinate level OMIM:619048
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the corpus callosum, Thick cerebral cortex, Lissencephaly, Periventricular ribbonli... OMIM:618677
Surfactant Metabolism Dysfunction, Pulmonary, 5
Respiratory insufficiency, Interlobular septal thickening, Exertional dyspnea, Dyspnea, Intraalve... OMIM:614370
Endocardial Fibroelastosis
Abnormal palate morphology, Micrognathia, Endocardial fibroelastosis, Restrictive cardiomyopathy,... ORPHA:2022
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Death in infancy, Agenesis of corpus callosum, Cerebral atrophy OMIM:600329
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Abnormal pulmonary interstitial morphology... ORPHA:178320
Lymphoblastic Leukemia, Acute, With Lymphomatous Features
T-cell acute lymphoblastic leukemias, Acute lymphoblastic leukemia, Lymphoma OMIM:247640
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Hydronephrosis, Cleft palate, Micrognathia, Arthrogryposis multiplex congenita, Vesicoureteral re... OMIM:618265
Meckel Syndrome, Type 11
Polycystic kidney dysplasia OMIM:615397
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Renal hypoplasia, Hydronephrosis, Cleft palate, High, narrow palate, Renal agenesis, Long philtru... OMIM:618494
Bowen Syndrome Of Multiple Malformations
Agenesis of corpus callosum, Death in childhood OMIM:211200
Peroxisome Biogenesis Disorder 2A (Zellweger)
Hepatomegaly, Micrognathia, Cleft palate, Abnormal heart morphology, Hypoplasia of the thymus, Jo... OMIM:214110
Stankiewicz-Isidor Syndrome
Hypospadias, Ventricular septal defect, Ureteral duplication, Truncus arteriosus, Pineal cyst, Mi... OMIM:617516
Wolfram Syndrome, Mitochondrial Form
Hydronephrosis, Hydroureter OMIM:598500
Macdermot-Winter Syndrome
Hydronephrosis, Camptodactyly of finger, Hypoplastic male external genitalia OMIM:247990
Catel-Manzke Syndrome
Ventricular septal defect, Cleft palate, Micrognathia, Malar flattening, Glossoptosis, Atrial sep... ORPHA:1388
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Hand oligodactyly, Pierre-Robin sequence OMIM:172880
Lethal Congenital Contracture Syndrome 2
Dilated cardiomyopathy, Ventricular septal defect, Hydronephrosis, Skeletal muscle atrophy, Micro... OMIM:607598
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Dysphagia, Respiratory insufficiency, Respiratory insufficiency due to muscle weakness, Respirato... ORPHA:254875
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia, Microcephaly OMIM:618185
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Hepatomegaly, Esophageal varix, Pancreatic cysts, Hepatic cysts, Tubulointerstitial fibrosis, Ren... OMIM:263200
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy OMIM:601494
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Central apnea, Death in infancy, Respiratory insufficiency OMIM:611722
Lissencephaly 5
Subcortical band heterotopia, Leukoencephalopathy, Hypoplasia of the corpus callosum, Porencephal... OMIM:615191
Mckusick-Kaufman Syndrome
Ventricular septal defect, Hydronephrosis, Cleft palate, High palate, Aganglionic megacolon, Ecto... ORPHA:2473
Ciliary Dyskinesia, Primary, 42
Chronic pulmonary obstruction, Respiratory insufficiency, Pneumonia, Bronchiectasis, Nasal polypo... OMIM:618695
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Rectovestibular fistula, Smooth philtrum, Peripheral pulmonary artery stenosis, Aortic root aneur... ORPHA:280633
Juvenile Myelomonocytic Leukemia
Juvenile myelomonocytic leukemia OMIM:607785
Image Syndrome
Hypospadias, Hydronephrosis, Hypogonadism, Cryptorchidism, Micromelia ORPHA:85173
Cardiomyopathy, Familial Hypertrophic, 20
Left ventricular hypertrophy, Cardiomyopathy OMIM:613876
Branchiootorenal Syndrome 1
High palate, Cleft palate, Microdontia, Renal agenesis, Renal malrotation, Renal dysplasia, Facia... OMIM:113650
Congenital Heart Defects, Multiple Types, 4
Ventricular septal defect, Atrioventricular canal defect, Coarctation of aorta, Hypoplastic left ... OMIM:615779
Agenesis Of The Corpus Callosum And Congenital Lymphedema
High palate, Long philtrum, Right ventricular hypertrophy, Patent ductus arteriosus, Thin upper l... OMIM:613623
Subependymal Nodular Heterotopia
Meningocele, Partial agenesis of the corpus callosum, Abnormality of neuronal migration, Myelomen... ORPHA:101030
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies
Absent septum pellucidum, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of the corpus ca... OMIM:618492
Myofibrillar Myopathy 10
Ankle flexion contracture, Mandibular prognathia, EMG: myopathic abnormalities, Knee flexion cont... OMIM:619040
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Dysphagia, Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal ins... ORPHA:266
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
14Q11.2 Microdeletion Syndrome
Ventricular septal defect, High palate, Micrognathia, Long philtrum, Patent ductus arteriosus, De... ORPHA:261120
Bardet-Biedl Syndrome 4
External genital hypoplasia, Renal cyst, Hypogonadism, Abnormality of the dentition, Cryptorchidi... OMIM:615982
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)
Left ventricular hypertrophy OMIM:614458
Penile Agenesis
Cystic renal dysplasia, Bilateral renal hypoplasia, Ventricular septal defect, Hydronephrosis, Ur... ORPHA:49
Mesoaxial Hexadactyly And Cardiac Malformation
Ventricular septal defect, Torticollis, External genital hypoplasia, Patent ductus arteriosus, Pu... OMIM:249670
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory failure, Respiratory insufficiency due to muscle weakness, Recurrent aspiration pneum... ORPHA:2590
Humero-Radio-Ulnar Synostosis
Aplasia/Hypoplasia of the thumb, Abnormality of the ureter, Abnormality of the upper urinary tract ORPHA:3266
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Respiratory failure, Dysphagia, Pulmonary hypoplasia OMIM:616867
Wolfram Syndrome 1
Testicular atrophy, Hydronephrosis, Cardiomyopathy, Hydroureter, Neurogenic bladder OMIM:222300
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Micrognathia, High palate, Persistent left superior vena cava, Double outlet right ventricle, Pat... ORPHA:3304
14Q24.1Q24.3 Microdeletion Syndrome
Ventricular septal defect, Smooth philtrum, Truncus arteriosus, Long philtrum, Abnormal heart mor... ORPHA:401935
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hydronephrosis, Atrioventricular canal defect, Urethral atresia, Anal atresia, Absent radius, Tra... OMIM:314390
Ciliary Dyskinesia, Primary, 23
Productive cough, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchie... OMIM:615451
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Recurrent bronchitis, Bronchiectasis, Chronic sinusitis, Bronchiolitis, Emphysema OMIM:604571
Congenital Megacalycosis
Hydronephrosis, Tubulointerstitial nephritis, Dilatation of renal calices, Abnormal renal physiol... ORPHA:93109
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Dysphagia, Respiratory insufficiency, Respiratory failure, Respiratory distress, Restrictive vent... OMIM:614399
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Bronchiectasis, Respiratory in... OMIM:616037
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Megacystis, Intestinal malrotation, Multicystic kidney dysplasia, Neoplasm of the heart, Cryptorc... ORPHA:2241
Bladder Exstrophy And Epispadias Complex
Horseshoe kidney, Bifid clitoris, Unilateral renal agenesis, Bladder exstrophy, Anteriorly placed... OMIM:600057
Tracheal Agenesis
Aplasia/Hypoplasia of the lungs, Respiratory insufficiency ORPHA:3346
Cloacal Exstrophy
Horseshoe kidney, Myelomeningocele, Hydroureter, Absent foot, Intestinal malrotation, Anal atresi... ORPHA:93929
Orofaciodigital Syndrome I
Carious teeth, Cleft palate, High palate, Alveolar ridge overgrowth, Pancreatic cysts, Myelomenin... OMIM:311200
Sonoda Syndrome
Ventricular septal defect, Narrow mouth OMIM:270460
Burn-Mckeown Syndrome
Renal hypoplasia, Ventricular septal defect, Cleft palate, Micrognathia, Short philtrum, Cleft up... OMIM:608572
Renal Tubular Dysgenesis
Proximal tubulopathy, Renotubular dysgenesis, Tetralogy of Fallot, Multiple renal cysts, Nephropathy ORPHA:3033
Nephronophthisis 20
Renal insufficiency, Nephronophthisis, Renal cyst, Stage 5 chronic kidney disease OMIM:617271
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Abnormal aortic morphology, Ventricular septal defect, Cleft palate, Truncus... ORPHA:2516
Microcephaly 16, Primary, Autosomal Recessive
Microcephaly, Agenesis of corpus callosum, Simplified gyral pattern OMIM:616681
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Pyloric stenosis, Bifid scrotum, Patent ductus arteriosus, Delayed eruption of teeth... OMIM:619148
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease
Polycystic kidney dysplasia, Hepatic cysts, Dilatation of the cerebral artery OMIM:600666
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair
Abnormality of the dentition, Ventricular septal defect, Micrognathia, Abnormality of the kidney OMIM:616901
Tricuspid Atresia
Ventricular septal defect, Tricuspid atresia, Hypoplasia of right ventricle, Persistent left supe... ORPHA:1209
Microphthalmia, Syndromic 9
Truncus arteriosus, Single ventricle, Patent ductus arteriosus, Ventricular septal defect, Microg... OMIM:601186
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency, Neonatal death OMIM:245650
Pontocerebellar Hypoplasia, Type 15
Partial agenesis of the corpus callosum, Death in infancy, Simplified gyral pattern, Hydrocephalu... OMIM:619302
Raine Syndrome
Hydronephrosis, Cleft palate, High palate, Microdontia, Wide mouth, Micrognathia, Mandibular prog... OMIM:259775
Heterotaxy, Visceral, 8, Autosomal
Ventricular septal defect, Double outlet right ventricle, Atrial situs ambiguous, Hypoplastic lef... OMIM:617205
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Hepatomegaly, Ureteral duplication, Increased muscle lipid content, Hydro... OMIM:608836
Truncus Arteriosus
Truncus arteriosus, Abnormal coronary artery morphology, Hypoplasia of the thymus, Patent ductus ... ORPHA:3384
Birt-Hogg-Dubé Syndrome
Pneumothorax, Pulmonary sequestration, Emphysema ORPHA:122
Sarcoidosis, Susceptibility To, 2
Hypoxemia, Bronchiectasis, Pneumothorax, Pulmonary arterial hypertension, Elevated bronchoalveola... OMIM:612387
Fetal Trimethadione Syndrome
Hypospadias, Ventricular septal defect, High palate, Micrognathia, Transposition of the great art... ORPHA:1913
Short Stature-Wormian Bones-Dextrocardia Syndrome
Dextrocardia, Micrognathia, High palate, Abnormality of the philtrum, Midshaft hypospadias, Delay... ORPHA:2863
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema OMIM:614100
Meckel Syndrome 12
Renal hypoplasia, Micrognathia, Renal agenesis, Bifid uvula, Arthrogryposis multiplex congenita, ... OMIM:616258
Hadziselimovic Syndrome
Thick lower lip vermilion, Renal hypoplasia, Ventricular septal defect, High palate, U-Shaped upp... OMIM:612946
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 1
Hydroureter, Fetal megacystis, Intestinal malrotation OMIM:249210
Combined Oxidative Phosphorylation Deficiency 30
Left ventricular hypertrophy OMIM:616974
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Recurrent respiratory infections, Respiratory insufficiency ORPHA:2432
Microcephaly 17, Primary, Autosomal Recessive
Simplified gyral pattern, Agenesis of corpus callosum, Microlissencephaly, Microcephaly OMIM:617090
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Abnormality of the philtrum, Ambiguous genitalia, Tetralogy of Fallot, Abnormality o... ORPHA:276422
Craniofacial Abnormalities, Cataracts, Congenital Heart Disease, Sacral Neural Tube Defects, And Growth And Developmental Retardation
Thick lower lip vermilion, Ventricular septal defect, Micrognathia, Short philtrum, Atrial septal... OMIM:608227
Microphthalmia, Lenz Type
Hypospadias, Hydronephrosis, Delayed eruption of teeth, Abnormality of dental morphology, Renal h... ORPHA:568
Double Outlet Right Ventricle
Ventricular septal defect, Cleft palate, Truncus arteriosus, Hypoparathyroidism, Submucous cleft ... ORPHA:3426
X-Linked Intellectual Disability, Schimke Type
Ankle flexion contracture, Hydronephrosis, High palate, Hip contracture, Knee flexion contracture... ORPHA:85285
Cardiomyopathy, Familial Hypertrophic, 17
Left ventricular hypertrophy, Myocardial fibrosis, Cardiomyopathy OMIM:613873
Nemaline Myopathy 8
Respiratory failure, Dysphagia, Death in infancy OMIM:615348
Chronic Beryllium Disease
Reticulonodular pattern on pulmonary HRCT, Abnormal respiratory system physiology, Lymphocytic in... ORPHA:133
Trisomy 13
High, narrow palate, Ventricular septal defect, Abnormality of the ureter, Hydronephrosis, Cleft ... ORPHA:3378
Caudal Regression Sequence
Decreased muscle mass, Ureteral duplication, Abnormality of the ureter, Renal agenesis, Hypoplast... ORPHA:3027
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Heterotaxy, Visceral, 1, X-Linked
Dextrocardia, Horseshoe kidney, Ventricular septal defect, Renal agenesis, Mitral atresia, Double... OMIM:306955
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Maternal Phenylketonuria
Ventricular septal defect, High palate, Micrognathia, Long philtrum, Double outlet right ventricl... ORPHA:2209
Pulmonary Alveolar Proteinosis With Hypogammaglobulinemia
Recurrent respiratory infections, Respiratory insufficiency, Intraalveolar phospholipid accumulation OMIM:618042
Infundibulopelvic Dysgenesis
Multicystic kidney dysplasia, Microscopic hematuria OMIM:600989
Ventriculomegaly And Arthrogryposis
Agenesis of corpus callosum OMIM:619501
Brachydactyly-Mesomelia-Intellectual Disability-Heart Defects Syndrome
Abnormal palate morphology, Micrognathia, Abnormal mitral valve morphology, Mesomelia, Tooth agen... ORPHA:1277
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Lissencephaly OMIM:619466
Autosomal Recessive Spastic Paraplegia Type 69
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401830
Ciliary Dyskinesia, Primary, 11
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Chronic rh... OMIM:612649
Fryns Syndrome
Hypospadias, Cleft palate, Duodenal atresia, Abnormal aortic arch morphology, Abnormal aortic mor... ORPHA:2059
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Hydronephrosis, Aganglionic megacolon, Duodenal... ORPHA:210122
Ciliary Dyskinesia, Primary, 32
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Immotile cilia, Recurrent resp... OMIM:616481
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Ventricular septal defect, High palate, Micrognathia, Patent ductus arteriosus, Micropenis, Atria... OMIM:618142
Epidermodysplasia Verruciformis, Susceptibility To, 4
Emphysema OMIM:618307
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Tachypnea, Decreased DLCO, Restrictive ventilator... OMIM:300770
Chromosome 15Q14 Deletion Syndrome
Ventricular septal defect, Cleft palate, Short philtrum, Tented upper lip vermilion, Cleft lip, A... OMIM:616898
Microphthalmia, Syndromic 12
Ventricular septal defect, Hypoplastic left atrium, Micrognathia, Congenital diaphragmatic hernia... OMIM:615524
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Cough, Respiratory failure, Reticular pattern on pulmon... ORPHA:99931
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Microcephaly OMIM:618572
Acrorenal Syndrome
Micrognathia, Cleft palate, Aplasia/Hypoplasia of the radius, Renal hypoplasia/aplasia, Abnormal ... ORPHA:971
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Ventricular septal defect, Biventricular hypertrophy, Nephrolithiasis, Left ventricular hypertrop... OMIM:615474
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Myopathy, Type 1 muscle fiber predominance, Triceps weakness, Generalized amyotrophy, Cardiomyopa... ORPHA:86812
Say Syndrome
Cystic renal dysplasia, Micrognathia, Cleft palate, Proximal renal tubular acidosis, Short distal... OMIM:181180
Diamond-Blackfan Anemia 6
Ventricular septal defect, Cleft palate, Mitral valve prolapse, Micrognathia, Cleft upper lip, Ve... OMIM:612561
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Partial agenesis of the corpus callosum, Hypoplastic hippocampus, Agenesis of corpus callosum, Ce... ORPHA:85179
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Cleft palate, Absent tibia, Hamartoma of tongue, Cleft upper lip, Renal dysplasia, Fibular hypopl... OMIM:613091
Suleiman-El-Hattab Syndrome
Thick lower lip vermilion, Ventricular septal defect, Smooth philtrum, Hydronephrosis, High palat... OMIM:618950
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, Chronic sinusitis, Recurrent p... OMIM:615294
Short Stature, Rhizomelic, With Microcephaly, Micrognathia, And Developmental Delay
Hypospadias, Ventricular septal defect, High palate, Cleft palate, Micrognathia, Rhizomelia, Micr... OMIM:617164
Alpha-1-Antitrypsin Deficiency
Emphysema ORPHA:60
Craniotelencephalic Dysplasia
Arrhinencephaly, Septo-optic dysplasia, Hydrocephalus, Lissencephaly, Agenesis of corpus callosum... ORPHA:1528
Oeis Complex
Ambiguous genitalia, female, Absence of the sacrum, Ambiguous genitalia, male, 11 pairs of ribs, ... OMIM:258040
Autosomal Recessive Spastic Paraplegia Type 67
Agenesis of corpus callosum, Cerebral cortical atrophy ORPHA:401820
Cutis Laxa-Marfanoid Syndrome
Emphysema ORPHA:171719
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Carious teeth, Cleft palate, Hypoplastic nipples, Renal dysplasia, Megacystis, Malar flattening, ... OMIM:604292
Lissencephaly 7 With Cerebellar Hypoplasia
Lissencephaly, Agenesis of corpus callosum, Agyria, Microcephaly OMIM:616342
Kallmann Syndrome-Heart Disease Syndrome
Dilated cardiomyopathy, Midgut malrotation, Cleft palate, Short lingual frenulum, Renal agenesis,... ORPHA:2326
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Ventricular septal defect, Cleft palate, Ectopic anus, Short philtrum, Mandibular prognathia, Mal... ORPHA:94066
Distal Monosomy 12Q
Pyloric stenosis, Smooth philtrum, Short middle phalanx of finger, Duodenal atresia, Microglossia... ORPHA:96149
Craniotelencephalic Dysplasia
Arrhinencephaly, Lissencephaly, Agenesis of corpus callosum, Absent septum pellucidum OMIM:218670
Serkal Syndrome
Hypospadias, Ventricular septal defect, Abnormal penis morphology, Renal agenesis, Sex reversal, ... ORPHA:139466
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypospadias, Hydronephrosis, Cleft palate, Short philtrum, Tented upper lip vermilion, Abnormal c... OMIM:616449
Femoral-Facial Syndrome
Cleft palate, Truncus arteriosus, Smooth philtrum, Micropenis, Thin upper lip vermilion, Short hu... OMIM:134780
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Widely spaced teeth, Hepatomegaly, High palate, Microdontia, Wide mouth, Macroglossia, Nephronoph... OMIM:266920
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypospadias, Micrognathia, Abnormality of the ureter, Thin vermilion border, Splenomegaly, Renal ... ORPHA:1046
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Ventricular septal defect, Micrognathia, Shawl scrotum, Aplasia of the proximal... ORPHA:2256
Ciliary Dyskinesia, Primary, 18
Chronic bronchitis, Respiratory insufficiency, Ciliary dyskinesia, Rhinitis, Respiratory insuffic... OMIM:614874
Scedosporiosis
Sinusitis, Bronchial breath sound, Abnormal respiratory system physiology, Pneumonia, Pleuritis, ... ORPHA:449280
Masa Syndrome
Agenesis of corpus callosum ORPHA:2466
Renal Hypoplasia
Urethral valve, Hydronephrosis, Abnormality of the ureter, Pelvic kidney, Glomerulomegaly, Abnorm... ORPHA:93101
Lissencephaly 6 With Microcephaly
Partial agenesis of the corpus callosum, Microlissencephaly, Periventricular heterotopia, Simplif... OMIM:616212
Adams-Oliver Syndrome 4
Ventricular septal defect, Atrial septal defect, Patent ductus arteriosus, Short toe OMIM:615297
Split-Hand With Obstructive Uropathy, Spina Bifida, And Diaphragmatic Defects
Hydronephrosis, Myelomeningocele, Ureteral atresia, Abnormality of the diaphragm OMIM:183802
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Polymicrogyria, Lissencephaly, Agenesis of corpus callosum, Microcephaly OMIM:614833
Renal Agenesis
Ventricular septal defect, Renal agenesis, Aplasia/hypoplasia of the uterus, Aplasia/Hypoplasia o... ORPHA:411709
Immunodeficiency, Common Variable, 6
Macroscopic hematuria, Hepatomegaly, Hydronephrosis, Mesangial Immune complex deposition, Stage 5... OMIM:613496
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Microcephaly, Cerebral calcification ORPHA:1980
Atrial Fibrillation, Familial, 10
Left atrial enlargement, Left ventricular hypertrophy OMIM:614022
Penoscrotal Transposition
Hypospadias, Micrognathia, Abnormality of the ureter, Renal agenesis, Patellar aplasia, Renal dys... ORPHA:2842
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Bicuspid aortic valve, Ventricular septal defect, Smooth philtrum, Long philtrum, Persistent left... ORPHA:477817
Fanconi Anemia
Hypospadias, Aplasia/Hypoplasia of fingers, Cleft palate, Duodenal stenosis, Aplasia/Hypoplasia o... ORPHA:84
Mckusick-Kaufman Syndrome
Hydrometrocolpos, Hydronephrosis, Aganglionic megacolon, Vesicovaginal fistula, Rectovaginal fist... OMIM:236700
3C Syndrome
Hypospadias, High, narrow palate, Ventricular septal defect, Hydronephrosis, Cleft palate, Hypopl... ORPHA:7
Phelan-Mcdermid Syndrome
Widely spaced teeth, Ventricular septal defect, High palate, Micrognathia, Long philtrum, Abnorma... OMIM:606232
Epidermodysplasia Verruciformis, X-Linked
Verrucae, Squamous cell carcinoma of the skin OMIM:305350
Genitopalatocardiac Syndrome
Hypospadias, Micrognathia, Cleft palate, Gonadal dysgenesis, male, Congenital diaphragmatic herni... ORPHA:2075
Odontochondrodysplasia 1
Long philtrum, Nephronophthisis, Delayed eruption of teeth, Polycystic kidney dysplasia, Short me... OMIM:184260
Bor Syndrome
Hydronephrosis, Cleft palate, Facial palsy, Multicystic kidney dysplasia, Renal hypoplasia/aplasi... ORPHA:107
Ciliary Dyskinesia, Primary, 26
Neonatal respiratory distress, Chronic bronchitis, Ciliary dyskinesia, Bronchiectasis, Rhinitis, ... OMIM:615500
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Cleft palate, Hamartoma of tongue, Microglossia, Disproportionate shor... OMIM:263520
Short Rib-Polydactyly Syndrome
Hypospadias, Cleft palate, Short ribs, Urogenital sinus anomaly, Cleft lip, Short tibia, Hypoplas... ORPHA:1505
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome
Hypospadias, Abnormal palate morphology, Anal atresia, Tetralogy of Fallot, Cryptorchidism, Hypop... ORPHA:1381
Galloway-Mowat Syndrome 7
Dilated cardiomyopathy, Renal tubular atrophy, Ventricular septal defect, Focal segmental glomeru... OMIM:618348
Ciliary Dyskinesia, Primary, 36, X-Linked
Neonatal respiratory distress, Bronchiectasis, Cough, Recurrent respiratory infections, Recurrent... OMIM:300991
Simpson-Golabi-Behmel Syndrome
Hypospadias, Aplasia/Hypoplasia of the abdominal wall musculature, Cleft palate, Splenomegaly, Ca... ORPHA:373
Meckel Syndrome, Type 1
Cleft palate, Ambiguous genitalia, female, Patent ductus arteriosus, Splenomegaly, Ambiguous geni... OMIM:249000
Noonan Syndrome 8
Hypertrophic cardiomyopathy, Ventricular septal defect, Patent ductus arteriosus, Pulmonic stenos... OMIM:615355
Acrorenal-Mandibular Syndrome
Micrognathia, Abnormality of the ureter, High palate, Renal agenesis, Aplasia of the bladder, Hyp... OMIM:200980
Gaba-Transaminase Deficiency
Agenesis of corpus callosum, Death in childhood OMIM:613163
8Q12 Microduplication Syndrome
Ventricular septal defect, Long philtrum, Short foot, Atrial septal defect, Narrow mouth, Everted... ORPHA:228399
Mesomelic Limb Shortening And Bowing
Micrognathia, Cleft palate, Mesomelic leg shortening, Mesomelic arm shortening, Camptodactyly of ... OMIM:249710
Hemimegalencephaly
Hemimegalencephaly, Abnormal neuron morphology, Pachygyria, Polymicrogyria, Gray matter heterotop... ORPHA:99802
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Upper limb undergrowth, Congenital megaureter, Renal dysplasia, Malar flattening, Patent ductus a... ORPHA:369837
Beaulieu-Boycott-Innes Syndrome
Carious teeth, Horseshoe kidney, Ventricular septal defect, Renal agenesis, Patent ductus arterio... OMIM:613680
Ciliary Dyskinesia, Primary, 15
Wheezing, Chronic bronchitis, Neonatal respiratory distress, Ciliary dyskinesia, Bronchiectasis, ... OMIM:613808
Tetraploidy
Hydronephrosis, Cleft palate, Micrognathia, Short philtrum, Renal hypoplasia/aplasia ORPHA:3305
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Abnormal morphology of the chordae t... ORPHA:75566
Heterotaxy, Visceral, 5, Autosomal
Duodenal atresia, Single ventricle, Absence of the sacrum, Patent ductus arteriosus, Dextrocardia... OMIM:270100
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Hydronephrosis, Ventricular septal defect, Cleft palate, Patent ductus arteriosus, Intestinal mal... ORPHA:457193
Respiratory Distress Syndrome In Premature Infants
Neonatal respiratory distress, Tachypnea, Respiratory distress, Pulmonary edema, Dyspnea, Atelect... OMIM:267450
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Renal hypoplasia, Renal dysplasia, Renal cyst, Arthrogryposis multiplex congenita, Ureteral agene... OMIM:236500
Faciothoracogenital Syndrome
Micrognathia, Smooth philtrum, Long philtrum, Prominent scrotal raphe, Thin upper lip vermilion, ... OMIM:227320
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Pulmonary lymphangiectasia, Hepatomegaly, Ventricular septal defect, Hydronephrosis, Cleft palate... OMIM:235255
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Hydronephrosis, Ureteral duplication, Cleft palate, High palate, Micrognathia, Long philtrum, Con... OMIM:614080
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Pulmonary edema, Respiratory failure, Dyspnea ORPHA:70578
Li-Campeau Syndrome
Ventricular septal defect, Long philtrum, Patent ductus arteriosus, Micropenis, Atrial septal def... OMIM:619189
Developmental Delay With Or Without Dysmorphic Facies And Autism
Renal hypoplasia, Hydronephrosis, Cleft palate, Smooth philtrum, Wide mouth, Short philtrum, Micr... OMIM:618454
Meckel Syndrome, Type 9
Multicystic kidney dysplasia, Ambiguous genitalia, Limb undergrowth OMIM:614209
Familial Adenomatous Polyposis 1
Adrenocortical carcinoma, Osteoma, Astrocytoma, Adrenocortical adenoma, Adenomatous colonic polyp... OMIM:175100
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Periventricular heterotopia, Corticospinal tract hypoplasia, Pachygyria, S... ORPHA:255138
Goiter, Multinodular, Cystic Renal Disease, And Digital Anomalies
Multinodular goiter, Renal cyst OMIM:138790
Cleft Palate, Isolated
Micrognathia, Cleft palate, Gingival overgrowth, Increased overbite, Anterior open-bite malocclusion OMIM:119540
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia ORPHA:2016
Chromosome 18P Deletion Syndrome
Micrognathia, High palate, Tooth malposition, Micropenis, Cryptorchidism, Decreased testicular si... OMIM:146390
Pulmonary Atresia With Ventricular Septal Defect
Ventricular septal defect, Pulmonary artery atresia OMIM:178370
Floating-Harbor Syndrome
Hypospadias, Carious teeth, Oligodontia, 11 pairs of ribs, Hypoplasia of the maxilla, Dilatation ... ORPHA:2044
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Choking episodes, Cough, Impaired oropharyngeal swallow r... ORPHA:2004
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Lung abscess, Pneumonia, Cough, Decreased DLCO, Restrictive ventilatory defect, Dyspne... OMIM:610910
Verheij Syndrome
Renal hypoplasia, Renal agenesis, Long philtrum, Renal cyst, Short 5th finger, Abnormal cardiac s... OMIM:615583
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Multicystic kidney dysplasia, Abnormal palate morphology, Abnormality of the denti... ORPHA:3270
Koolen-De Vries Syndrome
Hypospadias, Bicuspid aortic valve, Ureteral duplication, Hydronephrosis, Pyloric stenosis, Cleft... ORPHA:96169
Alagille Syndrome 2
Renal hypoplasia, Peripheral pulmonary artery stenosis, Renal tubular acidosis, Hematuria, Renal ... OMIM:610205
Pituitary Adenoma 1, Multiple Types
Pituitary growth hormone cell adenoma, Cardiomyopathy, Left ventricular hypertrophy, Pituitary ad... OMIM:102200
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cystic renal dysplasia, Hepatomegaly, Ectopic kidney, Cryptorchidism, Abnormality of the kidney OMIM:613730
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Hydrocephalus, Microcephaly OMIM:304100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5
Hydronephrosis, Megacystis, Intestinal malrotation, Hydroureter, Microcolon OMIM:619431
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Hypospadias, Hepatomegaly, Ventricular septal defect, Hydronephrosis, Hypodontia, Megarectum, Dou... OMIM:301056
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Micrognathia, Missing ribs, Short ribs, Intestinal malrotation, Polycystic kidney dysplasia, Thin... OMIM:617866
Ventriculomegaly With Defects Of The Radius And Kidney
Horseshoe kidney, Ureteral duplication, Renal agenesis, Absent radius, Vascular dilatation, Absen... OMIM:602200
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Smooth philtrum, Rectal prolapse, Oligodontia, Malar flattening, Joint contracture of the hand, D... OMIM:235510
Cantu Syndrome
Thick lower lip vermilion, Bicuspid aortic valve, Pericardial effusion, Long philtrum, Cardiomega... OMIM:239850
Pallister-Hall-Like Syndrome
Micrognathia, Cleft palate, Abnormal heart morphology, Renal dysplasia, Microglossia, Short ribs,... OMIM:241800
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle OMIM:618254
Caudal Duplication Anomaly
Ureteral duplication, Uterus didelphys OMIM:607864
Coenzyme Q10 Deficiency, Primary, 5
Left ventricular hypertrophy OMIM:614654
Split-Hand/Foot Malformation 3
Renal hypoplasia, Cleft palate, High palate, Narrow mouth, Camptodactyly, Hypoplasia of the maxil... OMIM:246560
Emanuel Syndrome
Renal hypoplasia, Ventricular septal defect, Cleft palate, Truncus arteriosus, High palate, Renal... OMIM:609029
Meacham Syndrome
Patent ductus arteriosus, Anomalous pulmonary venous return, Hydrometrocolpos, Aortic valve steno... ORPHA:3097
Cardiac Diverticulum
Bicuspid aortic valve, Tricuspid stenosis, Abnormal coronary artery origin, Mitral stenosis, Bicu... ORPHA:1686
Feingold Syndrome 2
Ventricular septal defect, Short middle phalanx of the 5th finger, Short thumb, Intestinal atresi... OMIM:614326
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Hypospadias, Carious teeth, Smooth philtrum, Patent ductus arteriosus, Micropenis, Premature ovar... ORPHA:363444
Feingold Syndrome Type 1
Short middle phalanx of finger, Tricuspid stenosis, Duodenal atresia, Renal dysplasia, Multiple m... ORPHA:391641
Caudal Duplication
Ureteral duplication, Abnormal penis morphology, Myelomeningocele, Uterus didelphys, Renal hypopl... ORPHA:1756
Primary Ciliary Dyskinesia
Wheezing, Productive cough, Pulmonary situs ambiguus, Neonatal respiratory distress, Bronchiectas... ORPHA:244
Fixed Subaortic Stenosis
Bicuspid aortic valve, Ventricular septal defect, Bacterial endocarditis, Ascending tubular aorta... ORPHA:3092
Isolated Succinate-Coq Reductase Deficiency
Hypertrophic cardiomyopathy, Skeletal muscle atrophy, Noncompaction cardiomyopathy, Skeletal myop... ORPHA:3208
Chand Syndrome
Cleft palate, Imperforate hymen, Short fifth metatarsal, Bifid tongue, Abnormal oral frenulum mor... ORPHA:1401
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Microlissencephaly, Primary microcephaly, 4-layered lissenceph... ORPHA:89844
Hanac Syndrome
Hematuria, Renal insufficiency, Multiple renal cysts ORPHA:73229
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification
Emphysema OMIM:210050
8P Inverted Duplication/Deletion Syndrome
Dextrocardia, High, narrow palate, Hydronephrosis, Micrognathia, Wide mouth, Long philtrum, Abnor... ORPHA:96092
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Anterior hypopituitarism OMIM:601016
Williams-Beuren Region Duplication Syndrome
Hydronephrosis, High palate, Diastema, Short philtrum, Micrognathia, Patent ductus arteriosus, Cr... OMIM:609757
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the skin, Neoplasm of the rectum, Meningioma, Adenomatous colonic polyposis, Endometr... ORPHA:454840
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Cystic renal dysplasia, Hepatomegaly, High, narrow palate, Myoglobinuria, Tubulointerstitial neph... ORPHA:228308
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3
Hydronephrosis, Megacystis, Fetal megacystis, Hydroureter, Microcolon OMIM:619362
Paraneoplastic Pemphigus
Sarcoma, B-cell lymphoma, Thymoma ORPHA:63455
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Lambert Syndrome
Hypospadias, Ventricular septal defect, Malar flattening, Wide mouth ORPHA:1296