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Gene: Ndst1 MGI:104719

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

N-deacetylase/N-sulfotransferase (heparan glucosaminyl) 1

Synonyms:

1200015G06Rik, b2b2230Clo, Hsst, Ndst-1, glucosaminyl N-deacetylase/N-sulfotransferase 1

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

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.

Phenotype associated images not available

Human diseases caused by Ndst1 mutations

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

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

Human diseases associated with Ndst1 (1 diseases)
Human diseases predicted to be associated with Ndst1 (2427 diseases)

The table below shows human diseases associated to Ndst1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Recessive 46		Mandibular prognathia, Widely spaced teeth, Protruding ear	OMIM:616116

The table below shows human diseases predicted to be associated to Ndst1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Aplasia Of Lacrimal And Salivary Glands	Lacrimal gland hypoplasia, Absent lacrimal punctum, Lacrimal gland aplasia	OMIM:180920
Genitopalatocardiac Syndrome	Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ...	OMIM:231060
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A...	ORPHA:70589
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e...	OMIM:267450
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ...	OMIM:615294
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
22Q11.2 Duplication Syndrome	Wide nose, Ventricular septal defect, Micrognathia, Microcephaly, Urethral stenosis, Depressed na...	ORPHA:1727
Familial Nasal Acilia	Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re...	OMIM:616726
Orbital Margin, Hypoplasia Of	Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly	OMIM:165600
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Underdeveloped nasal alae, Cl...	OMIM:601355
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Heart And Brain Malformation Syndrome	Attached earlobe, Cerebellar vermis hypoplasia, High, narrow palate, Dandy-Walker malformation, A...	OMIM:616920
Recurrent Respiratory Papillomatosis	Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in...	ORPHA:60032
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon...	OMIM:263000
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi...	ORPHA:70587
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle...	ORPHA:79126
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Pulmonary Nodular Lymphoid Hyperplasia	Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough	ORPHA:60026
Aminopterin/Methotrexate Embryofetopathy	Mandibular prognathia, Encephalocele, Low-set, posteriorly rotated ears, Ventricular septal defec...	ORPHA:1908
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Ventricular septal defect, Renal agenesis, Micrognathia, Microcephaly, High, narrow palate, Under...	ORPHA:2516
14Q24.1Q24.3 Microdeletion Syndrome	Thin upper lip vermilion, Midface retrusion, Ventricular septal defect, Prominent nasal bridge, E...	ORPHA:401935
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia...	ORPHA:70588
Pulmonary Blastoma	Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough	ORPHA:64741
Microphthalmia, Syndromic 9	Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Diaphragmatic ...	OMIM:601186
Diabetic Embryopathy	Ureteral duplication, Micrognathia, Aplasia/Hypoplasia of the cerebellum, Micropenis, Abnormality...	ORPHA:1926
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,...	ORPHA:2902
Osteopoikilosis And Dacryocystitis	Dacryocystitis	OMIM:166705
Skraban-Deardorff Syndrome	Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's...	OMIM:617616
Immunodeficiency 95	Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f...	OMIM:619773
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom...	OMIM:611638
Verheij Syndrome	Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Ante...	OMIM:615583
Chromosome 13Q33-Q34 Deletion Syndrome	Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, High palate, Short ...	OMIM:619148
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Ventricular septal defect, Exaggerated cupid's bow, Depressed ...	ORPHA:261120
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Microphthalmia, Syndromic 12	Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Broad nas...	OMIM:615524
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Cryptorch...	ORPHA:1166
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Omphalocele, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nas...	OMIM:601927
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha...	OMIM:611134
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Micr...	OMIM:613885
Ciliary Dyskinesia, Primary, 40	Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ...	OMIM:618300
Emanuel Syndrome	Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect...	OMIM:609029
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Cerebrooculonasal Syndrome	Anophthalmia, Cerebellar vermis hypoplasia, Brachycephaly, Downturned corners of mouth, High pala...	OMIM:605627
Double Outlet Right Ventricle	Hypoparathyroidism, Ventricular septal defect, Depressed nasal bridge, Abnormality of cartilage o...	ORPHA:3426
Septooptic Dysplasia	Optic disc hypoplasia, Absent septum pellucidum, Optic nerve hypoplasia, Decreased response to gr...	OMIM:182230
Recombinant Chromosome 8 Syndrome	Micrognathia, Brachycephaly, Downturned corners of mouth, Atrial septal defect, Anteverted nares,...	OMIM:179613
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Heterotaxy, Visceral, 7, Autosomal	Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl...	OMIM:616749
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Frontal bossing, Ventricular septal defect, Abnormally large globe, Mega...	OMIM:603387
Holoprosencephaly 9	Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi...	OMIM:610829
Chromosome 22Q11.2 Deletion Syndrome, Distal	Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Truncus arte...	OMIM:611867
Trisomy 1Q	Microretrognathia, Frontal bossing, Wide nose, Anophthalmia, Ventricular septal defect, Camptodac...	ORPHA:261344
Pentalogy Of Cantrell	Encephalocele, Absent gallbladder, Omphalocele, Ventricular septal defect, Abnormal pericardium m...	ORPHA:1335
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Omphalocele, Frontal bossing, Cloverleaf skull, Ventricular septal defect, Micrognathia, Wide nas...	ORPHA:93267
Velocardiofacial Syndrome	Hypoparathyroidism, Inguinal hernia, Ventricular septal defect, Microcephaly, Underdeveloped nasa...	OMIM:192430
Diprosopus	Abnormality of the nose, External ear malformation, Non-midline cleft lip, Anencephaly, Cleft pal...	ORPHA:1681
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Glycogen Storage Disease 0, Muscle	Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu...	OMIM:611556
Structural Heart Defects And Renal Anomalies Syndrome	Renal insufficiency, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus call...	OMIM:617478
Spinal Muscular Atrophy, Type I	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome	Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Hypopl...	ORPHA:2476
Holoprosencephaly 14	Frontal bossing, Median cleft lip, Ventricular septal defect, Absent septum pellucidum, Anteverte...	OMIM:619895
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Microcephaly, Abnormality of the nose, Cleft lip, Single naris...	OMIM:142945
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc...	ORPHA:91359
Burn-Mckeown Syndrome	Mandibular prognathia, Micrognathia, Protruding ear, Short philtrum, Conductive hearing impairmen...	OMIM:608572
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ...	ORPHA:1303
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:120433
Hydrolethalus	Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Micrognathia, Cryptorc...	ORPHA:2189
8P23.1 Duplication Syndrome	Wide nose, Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmonic ste...	ORPHA:251076
Fryns Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch m...	ORPHA:2059
Trisomy 13	Anophthalmia, High, narrow palate, Hernia, Atrial septal defect, Cryptorchidism, Patent ductus ar...	ORPHA:3378
Arthrogryposis, Distal, Type 2E	Foot joint contracture, Micrognathia, Microcephaly, Trismus, Distal arthrogryposis, Narrow mouth,...	OMIM:121070
Emanuel Syndrome	Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High...	ORPHA:96170
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Parachute mitral valve, Prominent nose, Short philtrum, Atrial septal defect, Pulmonary artery at...	OMIM:618316
Anencephaly 2	Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c...	OMIM:619452
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,...	OMIM:300845
Heterotaxy, Visceral, 4, Autosomal	Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit...	OMIM:613751
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary...	ORPHA:330012
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly	Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cy...	OMIM:236500
Schisis Association	Encephalocele, Omphalocele, Renal agenesis, Congenital diaphragmatic hernia, Microcephaly, Spina ...	ORPHA:63862
1Q21.1 Microdeletion Syndrome	Frontal bossing, Inguinal hernia, Microcephaly, Cryptorchidism, Patent ductus arteriosus, Hydroce...	ORPHA:250989
Stevenson-Carey Syndrome	Prominent nasal tip, Recurrent urinary tract infections, Anteverted nares, Posteriorly rotated ea...	OMIM:611961
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non...	ORPHA:1302
Chromosome 9P Deletion Syndrome	Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, ...	OMIM:158170
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct...	ORPHA:79127
Pseudotrisomy 13 Syndrome	Adrenal hypoplasia, Holoprosencephaly, Atrial septal defect, Micropenis, Agenesis of corpus callo...	OMIM:264480
Carpenter Syndrome 1	Micrognathia, Hypoplasia of the maxilla, Brachycephaly, High palate, Atrial septal defect, Conduc...	OMIM:201000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Telecanthus, Streak ovary, Ectropion, Duplicated lacrimal punctum, Elevat...	ORPHA:572333
Isolated Congenital Alacrima	Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis	ORPHA:91416
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen...	OMIM:617542
Renal Hypodysplasia/Aplasia 4	Respiratory failure, Pulmonary hypoplasia	OMIM:619887
Meckel Syndrome, Type 10	Occipital encephalocele, Frontal bossing, Abnormal pinna morphology, Hypospadias, Anencephaly, Cl...	OMIM:614175
Dislocation Of The Hip-Dysmorphism Syndrome	Prominence of the premaxilla, Inguinal hernia, Anteverted nares, Patent ductus arteriosus, Depres...	ORPHA:2412
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Perlman Syndrome	Everted upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Nephrogenic rest...	OMIM:267000
Developmental Delay With Or Without Dysmorphic Facies And Autism	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micrognathia, Renal cyst, Short ph...	OMIM:618454
Stankiewicz-Isidor Syndrome	Ureteral duplication, Ventricular septal defect, Hypospadias, Micrognathia, Prominent nose, Crypt...	OMIM:617516
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Microcephaly-Capillary Malformation Syndrome	Wide nose, Ventricular septal defect, Hearing impairment, Hypoplasia of the maxilla, Simplified g...	OMIM:614261
Thoracoabdominal Syndrome	Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Cleft ...	OMIM:313850
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum	Depressed nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Bulbous nose, Thin vermilion ...	OMIM:618766
Ciliary Dyskinesia, Primary, 37	Dextrocardia, Situs inversus totalis, Goiter, Right aortic arch, Chronic rhinitis, Hypothyroidism...	OMIM:617577
Meckel Syndrome, Type 2	Encephalocele, Omphalocele, Meningocele, Anencephaly, Cleft palate, Renal cyst, Bile duct prolife...	OMIM:603194
Weiss-Kruszka Syndrome	Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Anteverted nares, Hear...	OMIM:618619
Gillessen-Kaesbach-Nishimura Syndrome	Omphalocele, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Microcephal...	OMIM:263210
Surfactant Metabolism Dysfunction, Pulmonary, 5	Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi...	OMIM:614370
Trisomy 18	Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Hernia, Atrial septal defect, ...	ORPHA:3380
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Sonoda Syndrome	Depressed nasal bridge, Ventricular septal defect, Narrow mouth	OMIM:270460
Fetal Encasement Syndrome	Omphalocele, Congenital diaphragmatic hernia, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihyd...	OMIM:613630
Mosaic Trisomy 1	Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Orofacial cleft, Renal cyst, Pulmo...	ORPHA:1692
Congenital Heart Defects, Multiple Types, 6	Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a...	OMIM:613854
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microcoria, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
Proboscis Lateralis	Anophthalmia, Single naris, Orofacial cleft, Abnormality of the maxillary sinus, High palate, Hol...	ORPHA:141099
Intellectual Developmental Disorder, Autosomal Dominant 21	Posteriorly rotated ears, Microcephaly, Cryptorchidism, Patent ductus arteriosus, Cleft palate, C...	OMIM:615502
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Macular hypoplasi...	ORPHA:2185
Acitretin/Etretinate Embryopathy	Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Microcephaly, Cupped ear, Cono...	ORPHA:40366
Interstitial Lung Disease 1	Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro...	OMIM:619611
Temtamy Syndrome	Micrognathia, Thick lower lip vermilion, Aplasia/Hypoplasia of the corpus callosum, Joint hyperfl...	ORPHA:1777
Triploidy	Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of penis, Omphalocele, Hypospadias, M...	ORPHA:3376
Otodental Syndrome	Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car...	ORPHA:2791
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome	Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis	ORPHA:126
Miller-Dieker Syndrome	Omphalocele, Anteverted nares, Abnormal upper lip morphology, Lissencephaly, Hypoplasia of the co...	ORPHA:531
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Brachycephaly, Atrial sept...	OMIM:265380
Craniofacioskeletal Syndrome	Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Choanal atresia, Posteri...	OMIM:300712
Fetal Valproate Spectrum Disorder	Omphalocele, Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion bor...	ORPHA:1906
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching, Microcephaly	OMIM:107500
Ritscher-Schinzel Syndrome 1	Ventricular septal defect, Depressed nasal bridge, Decreased response to growth hormone stimulati...	OMIM:220210
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Cerebellar vermis hypoplasia, High, narrow palate, Atrial septal defect, Patent foramen ovale, Cr...	OMIM:618494
Temtamy Syndrome	Dental crowding, Ectopia lentis, Lens luxation, Micrognathia, Thick corpus callosum, Hypoplasia o...	OMIM:218340
Trisomy 17P	Skeletal muscle atrophy, Hypoplasia of penis, Micrognathia, Prominent nose, Flexion contracture, ...	ORPHA:261290
Meckel Syndrome, Type 7	Multicystic kidney dysplasia, Multiple glomerular cysts, Inguinal hernia, Situs inversus totalis,...	OMIM:267010
Ring Chromosome 8 Syndrome	Frontal bossing, Anteverted nares, Abnormality of the ureter, Round ear, Short nose, Hydronephros...	ORPHA:1450
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcephaly, Brachycephaly, High palate, Hypogonadism, Narrow mouth, Microphthalmia, Retrognathia	ORPHA:2528
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma	OMIM:604219
Distal Deletion 13Q	Encephalocele, Microcephaly, Renal hypoplasia/aplasia, Anencephaly, Primary adrenal insufficiency...	ORPHA:1590
Heterotaxy, Visceral, 12, Autosomal	Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa...	OMIM:619702
Cerebrooculofacioskeletal Syndrome 3	Micrognathia, Microcephaly, Cleft palate, Agenesis of corpus callosum, Microphthalmia, Arthrogryp...	OMIM:616570
Aorta Coarctation	Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy...	ORPHA:1457
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Mandibular prognathia, Low-set, posteriorly rotated ears, Overriding aorta, Prominent nasal bridg...	ORPHA:1110
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Depressed nasal bridge, Megalencephaly, Abnormal nasal morphology, Hyd...	ORPHA:83473
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Hydranencephaly, Camptodactyly of finger, Micrognathia, Microcephaly...	ORPHA:2570
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency	OMIM:611722
Microphthalmia With Brain And Digit Anomalies	Cataract, Anophthalmia, Sclerocornea, Microcephaly, Cryptorchidism, Microcornea, High palate, Cho...	ORPHA:139471
Oculoauriculofrontonasal Syndrome	Encephalocele, Pericallosal lipoma, Wide nose, Ventricular septal defect, Micrognathia, Microceph...	ORPHA:398156
Heterotaxy, Visceral, 6, Autosomal	Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast...	OMIM:614779
Truncus Arteriosus	Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort...	ORPHA:3384
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Whistling Face Syndrome, Recessive Form	Inguinal hernia, Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdevelop...	OMIM:277720
Alacrima, Congenital, Autosomal Dominant	Lacrimal gland hypoplasia, Lacrimal punctal atresia	OMIM:103420
Meier-Gorlin Syndrome 8	Micrognathia, Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Microtia, Thic...	OMIM:617564
Renpenning Syndrome	Mandibular prognathia, Skeletal muscle atrophy, Decreased testicular size, Diabetes mellitus, Mac...	ORPHA:3242
Teebi Hypertelorism Syndrome 1	Omphalocele, Thin upper lip vermilion, Natal tooth, Frontal bossing, Ventricular septal defect, D...	OMIM:145420
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Vacterl/Vater Association	Low-set, posteriorly rotated ears, Occipital encephalocele, Hypoplasia of penis, Multicystic kidn...	ORPHA:887
Oculocerebrocutaneous Syndrome	Anophthalmia, Cryptorchidism, Orbital encephalocele, Cleft palate, Hypoplasia of the corpus callo...	OMIM:164180
Intellectual Developmental Disorder, Autosomal Dominant 26	Prominent nasal tip, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Micrognathia, Mic...	OMIM:615834
17P13.3 Microduplication Syndrome	Frontal bossing, Wide nose, Hypoplasia of penis, Inguinal hernia, High palate, Hypoplasia of the ...	ORPHA:217385
Congenital Heart Defects, Multiple Types, 7	Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s...	OMIM:618780
Conotruncal Heart Malformations	Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran...	OMIM:217095
Laryngotracheoesophageal Cleft	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug...	ORPHA:2004
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C...	ORPHA:264675
Lipoma Of The Conjunctiva	Conjunctival lipoma	OMIM:151700
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Wide nose, Posteriorly rotated ears, Left atrial enlargement, Cardiomega...	OMIM:300280
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Familial Median Cleft Of The Upper And Lower Lips	Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A...	ORPHA:401942
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Micrognathia, Asplenia, Lobulated tongue, Agenesis o...	OMIM:249000
Pleural Mesothelioma	Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res...	ORPHA:50251
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Broad skull, Intracranial hemorrhage, Short philtrum, Atrial septal defect, Micropenis, Absent ga...	ORPHA:163979
Pneumocystosis	Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough...	ORPHA:723
Kagami-Ogata Syndrome	Omphalocele, Hepatomegaly, Frontal bossing, Inguinal hernia, Ventricular septal defect, Diastasis...	OMIM:608149
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Asplenia, Dextrotransposition of the great arteries, Atrial se...	OMIM:306955
C Syndrome	Omphalocele, Hepatomegaly, Ventricular septal defect, Anteverted nares, Accessory oral frenulum, ...	OMIM:211750
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Autism Spectrum Disorder Due To Auts2 Deficiency	Prominent nasal tip, Inguinal hernia, Anteverted nares, Micrognathia, Microcephaly, Cryptorchidis...	ORPHA:352490
Microphthalmia, Syndromic 13	Microcephaly, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced i...	OMIM:300915
Cardiomyopathy, Dilated, 1R	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:613424
Auriculocondylar Syndrome 2A	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic...	OMIM:614669
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio...	ORPHA:140896
Frontonasal Dysplasia 1	Pericallosal lipoma, Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal s...	OMIM:136760
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory...	OMIM:620321
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip...	ORPHA:411986
Adams-Oliver Syndrome 6	Ventricular septal defect, Splenomegaly, Renal hypoplasia, Truncus arteriosus, Calvarial skull de...	OMIM:616589
Baraitser-Winter Syndrome 1	Thin upper lip vermilion, Cleft upper lip, Pachygyria, Microcephaly, Cryptorchidism, Orofacial cl...	OMIM:243310
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Ventricular septal defect, Hearing impairment, Micrognathia, Microcephaly, Nephrogenic diabetes i...	OMIM:208085
Holoprosencephaly-Postaxial Polydactyly Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, Orofacial cleft, Absent nares, Holoprosenc...	ORPHA:2166
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Corneal opacity, Bilateral cleft lip and palate, Chorioretinal coloboma, Microphthalmia...	ORPHA:1473
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Tented upper lip vermilion, Hypertrophy of the urinary bladder, Large fleshy ears, High palate, A...	ORPHA:280633
Paget Disease Of Bone 6	Left ventricular hypertrophy, Nephrocalcinosis, Coronary artery atherosclerosis	OMIM:616833
Ane Syndrome	Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Multipl...	ORPHA:157954
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Cerebellar vermis hypop...	OMIM:619720
Distal Triplication 15Q	Micrognathia, Flexion contracture, High palate, Hernia, Atrial septal defect, Dandy-Walker malfor...	ORPHA:314588
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Vesicoureteral ...	ORPHA:2745
Iniencephaly	Encephalocele, Omphalocele, Renal agenesis, Congenital diaphragmatic hernia, Spina bifida, Abnorm...	ORPHA:63259
Short-Rib Thoracic Dysplasia 12	Lobulated tongue, Holoprosencephaly, Patent foramen ovale, Hepatomegaly, Hamartoma of tongue, Pat...	OMIM:269860
Lacrimal Duct Defect	Dacryocystocele, Dacryocystitis, Conjunctivitis, Lacrimal duct atresia	OMIM:149700
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl...	OMIM:234810
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Lethal Congenital Contracture Syndrome 10	Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia...	OMIM:617022
Isolated Exencephaly	Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleton morphology, Holoprosen...	ORPHA:563612
Meckel Syndrome, Type 5	Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Renal cyst, Bile duct prolif...	OMIM:611561
2p15-16.1 microdeletion syndrome	Hydronephrosis, Optic disc hypoplasia, Camptodactyly of finger, Microcephaly	DECIPHER:70
Tetrasomy 15Q26	Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Cupped ear, ...	OMIM:614846
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Hepatomegaly, Ventricular septal defect, Proteinuria, Microcephaly, Nephrogenic diabetes insipidu...	OMIM:613404
Cutis Laxa, Autosomal Recessive, Type Ic	Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Accessory spleen, Ingu...	OMIM:613177
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Tetraamelia-Multiple Malformations Syndrome	Abnormally ossified vertebrae, Cataract, Septo-optic dysplasia, Micrognathia, Cryptorchidism, Hyd...	ORPHA:3301
Acromelic Frontonasal Dysplasia	Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Wide...	ORPHA:1827
Meckel Syndrome	Ureteral duplication, Anophthalmia, Micrognathia, Asplenia, Depressed nasal ridge, Urethral atres...	ORPHA:564
Congenital Heart Defects, Multiple Types, 9	Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl...	OMIM:620294
Solitary Median Maxillary Central Incisor	Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Microcephal...	OMIM:147250
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Joint laxity, Optic nerve hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Simp...	ORPHA:300570
Lethal Hemolytic Anemia-Genital Anomalies Syndrome	Hypoplasia of penis, Hypospadias, Microcephaly, Micrognathia, Splenomegaly, Renal hypoplasia/apla...	ORPHA:1046
Tetraploidy	Microcephaly, Micrognathia, Renal hypoplasia/aplasia, Cleft palate, Hydronephrosis, Aplasia/Hypop...	ORPHA:3305
Bardet-Biedl Syndrome 19	Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc...	OMIM:615996
Heterotaxy, Visceral, 8, Autosomal	Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm...	OMIM:617205
Walker-Warburg Syndrome	Cataract, Corneal opacity, Chorioretinal dysplasia, Anophthalmia, Absent septum pellucidum, Abnor...	ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2	Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Cryptorchidism, Flexion contracture, Mi...	OMIM:613156
Robinow Syndrome, Autosomal Recessive 2	Ventral hernia, Frontal bossing, Omphalocele, Bicuspid aortic valve, Cleft soft palate, Anteverte...	OMIM:618529
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Anteverted nares, Micrognathia, Microcephaly, Cryptorchidism, Peris...	OMIM:600118
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Microphthalmia, Syndromic 3	Vertebral fusion, Optic nerve aplasia, Cataract, Anophthalmia, Optic nerve hypoplasia, Sclerocorn...	OMIM:206900
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Micrognathia, Microcephaly, Broad nasal tip, Ectopic kidney, Cleft palate, Abnor...	OMIM:239800
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Donnai-Barrow Syndrome	Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, ...	OMIM:222448
Chromosome 10Q26 Deletion Syndrome	Micrognathia, Prominent nose, Protruding ear, High palate, Vesicoureteral reflux, Atrial septal d...	OMIM:609625
Alazami-Yuan Syndrome	Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Microcephaly, Prominent nose, ...	OMIM:617126
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Anteverted nares, Hypospadias, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morpholo...	ORPHA:1355
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Developmental And Epileptic Encephalopathy 71	Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency	OMIM:618328
Congenital Disorder Of Glycosylation, Type Iig	Cerebellar vermis hypoplasia, Micrognathia, Glossoptosis, High palate, Conductive hearing impairm...	OMIM:611209
22Q11.2 Deletion Syndrome	Micrognathia, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of the thymus, Atrial s...	ORPHA:567
Donnai-Barrow Syndrome	Omphalocele, Depressed nasal bridge, Ventricular septal defect, Congenital diaphragmatic hernia, ...	ORPHA:2143
Microhydranencephaly	Skeletal muscle atrophy, Multiple joint contractures, Prominent nasal bridge, Microcephaly, Macro...	OMIM:605013
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Inguinal hernia, Dental crowding, Facial hypotonia, Brachycephaly, Cerebral atro...	OMIM:615539
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Microcephaly, Bulbous nose, Cupped ear, Wide nasal bridge, Cleft palate, Narrow mou...	ORPHA:93946
Renal-Hepatic-Pancreatic Dysplasia 2	Hepatomegaly, Truncus arteriosus, Hepatic cysts, Situs inversus totalis, Asplenia, Aortic valve s...	OMIM:615415
Septo-Optic Dysplasia Spectrum	Septo-optic dysplasia, Diabetes insipidus, Absent septum pellucidum, Optic nerve hypoplasia, Ante...	ORPHA:3157
Hydrolethalus Syndrome 1	Micrognathia, Severe hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Acces...	OMIM:236680
Heart Defects, Congenital, And Other Congenital Anomalies	Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasi...	OMIM:600001
Kallmann Syndrome-Heart Disease Syndrome	Short lingual frenulum, Hypogonadotropic hypogonadism, Partial anosmia, Anomalous origin of left ...	ORPHA:2326
Feingold Syndrome Type 1	Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Micrognathia...	ORPHA:391641
Suleiman-El-Hattab Syndrome	Microretrognathia, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Microcep...	OMIM:618950
Pontocerebellar Hypoplasia, Type 1C	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:616081
Charge Syndrome	Anophthalmia, Aqueductal stenosis, Hypoplasia of the semicircular canal, Holoprosencephaly, Aplas...	ORPHA:138
Holoprosencephaly 2	Aplasia of the nasal bone, Adrenal hypoplasia, Alobar holoprosencephaly, Holoprosencephaly, Agene...	OMIM:157170
Meacham Syndrome	Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Accesso...	OMIM:608978
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Acrocyanosis	ORPHA:896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp...	OMIM:613153
Holoprosencephaly	Hypoplasia of penis, Anophthalmia, Flat occiput, Congenital diaphragmatic hernia, Abnormality of ...	ORPHA:2162
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Camptodactyly of finger, Dysgenesis of the basal ganglia, Hypoplastic anterior commissure, Wrist ...	OMIM:600638
Acrocardiofacial Syndrome	Hypoplasia of penis, Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Camptodactyly o...	ORPHA:2008
Cog7-Cdg	Hepatomegaly, Abnormality of the kidney, Micrognathia, Hepatosplenomegaly, Abnormal heart morphol...	ORPHA:79333
8Q12 Microduplication Syndrome	Ventricular septal defect, Narrow mouth, Sensorineural hearing impairment, Brachycephaly, Wide na...	ORPHA:228399
Combined Pituitary Hormone Deficiencies, Genetic Forms	Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth horm...	ORPHA:95494
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma	Facial palsy, Interrupted aortic arch, Coarctation of aorta	OMIM:107550
Holoprosencephaly 7	Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Holoprosencephaly, Agenesis of...	OMIM:610828
Cerebrooculonasal Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Brachycephaly, Abnormal tra...	ORPHA:66625
Chromosome 4Q21 Deletion Syndrome	Frontal bossing, Dolichocephaly, Narrow mouth, Sensorineural hearing impairment, Downturned corne...	OMIM:613509
Right Atrial Isomerism	Right atrial isomerism, Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Aortop...	OMIM:208530
Digeorge Syndrome	Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia...	OMIM:188400
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Miller-Dieker Lissencephaly Syndrome	Micrognathia, Cavum septum pellucidum, Pachygyria, Thick upper lip vermilion, Pelvic kidney, Ante...	OMIM:247200
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Distal Duplication 6P	Frontal bossing, Prominent nasal bridge, Micrognathia, Aplasia/Hypoplasia of the earlobes, Renal ...	ORPHA:1745
Trigonocephaly 1	Omphalocele, Craniosynostosis, Microcephaly, High, narrow palate, Long penis, Wide nasal bridge, ...	OMIM:190440
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Neonatal death, Death in infancy	OMIM:300219
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Ventricular septal defect, Absent septum pellucidum, Bilater...	OMIM:601357
Frontorhiny	Encephalocele, Pericallosal lipoma, Cataract, Camptodactyly of finger, Hypoplasia of the maxilla,...	ORPHA:391474
Arthrogryposis, Distal, Type 1C	Pursed lips, Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Cleft lip, C...	OMIM:619110
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Microcephaly, Hydrocephalus, Cleft ...	OMIM:243605
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea	ORPHA:254361
Cardiomyopathy, Familial Restrictive, 1	Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement	OMIM:115210
Xk Aprosencephaly Syndrome	Ventricular septal defect, Microcephaly, Abnormal nostril morphology, Narrow mouth, Atrial septal...	ORPHA:3469
6P22 Microdeletion Syndrome	Patent ductus arteriosus, Hydrocephalus, Low-set ears, Hernia, Overfolded helix, Hydronephrosis, ...	ORPHA:251046
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle...	ORPHA:169186
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Micrognathia, Vesicoureteral reflux, Exaggerated cupid's bow, Hypospadias, Cryptorchidism, Patent...	OMIM:618659
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma	OMIM:610023
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Neural Tube Defects, Susceptibility To	Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spi...	OMIM:182940
Cerebrocostomandibular Syndrome	Multicystic kidney dysplasia, Cerebral calcification, Ventricular septal defect, Spina bifida, Mi...	ORPHA:1393
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Atrial septal defect, Branchial fistula, Narrow mouth, Truncus arteriosus, S...	ORPHA:261330
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Acalvaria	Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of ...	ORPHA:945
Idiopathic Pulmonary Fibrosis	Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,...	ORPHA:2032
Robinow Syndrome, Autosomal Dominant 3	Hypoplastic right heart, Micrognathia, Downturned corners of mouth, Pulmonary artery atresia, Ves...	OMIM:616894
Congenital Myopathy 16	Scapular winging, Micrognathia, Flexion contracture, Prominent nasolabial fold, High palate, Narr...	OMIM:618524
Microphthalmia, Syndromic 8	Mandibular prognathia, Cleft upper lip, Microcephaly, Cryptorchidism, Cleft palate, Orofacial cle...	OMIM:601349
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Depressed nasal bridge, Congenital diaphragmatic hernia, Hamartoma ...	OMIM:616546
Pulmonary Capillary Hemangiomatosis	Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap...	ORPHA:199241
Idiopathic Bronchiectasis	Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect...	ORPHA:60033
Mmep Syndrome	Mandibular prognathia, Median cleft lip, Microcephaly, Cryptorchidism, Orofacial cleft, Microphth...	ORPHA:3434
Classic Multiminicore Myopathy	Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture...	ORPHA:324604
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome	Multicystic kidney dysplasia, Prominent nasal bridge, Abnormality of the dentition, Carious teeth...	ORPHA:3270
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Cataract, Microcephaly, Lateral ventricle dilatation...	ORPHA:79326
Cofs Syndrome	Death in infancy, Cataract, Cerebral calcification, Camptodactyly of finger, Joint stiffness, Mic...	ORPHA:1466
Distal Duplication 15Q	Omphalocele, Congenital muscular torticollis, Camptodactyly of finger, Prominent nasal bridge, Mi...	ORPHA:1707
Biemond Syndrome Ii	Abnormality of the endocrine system, Hydrocephalus, Iris coloboma	OMIM:210350
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Achilles tendon ...	ORPHA:353
Otopalatodigital Syndrome Type 2	Micrognathia, Glossoptosis, Oligodontia, Anodontia, Encephalocele, Depressed nasal bridge, Hyposp...	ORPHA:90652
Frontoocular Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Trigonocephaly, Micrognathia, Narrow philtrum, ...	OMIM:605321
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Feingold Syndrome 1	Micrognathia, Asplenia, High palate, Accessory spleen, Anteverted nares, Patent ductus arteriosus...	OMIM:164280
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Micrognathia, Microcephaly, Protruding ear, Hypoplasia of the corpus cal...	ORPHA:1495
Humero-Radial Synostosis	Tarsal synostosis, Microcephaly, Meningocele, Limitation of joint mobility, Chorioretinal colobom...	ORPHA:3265
Isotretinoin-Like Syndrome	Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Conotruncal defect, Anotia,...	ORPHA:2306
Scimitar Syndrome	Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ve...	ORPHA:185
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Microphthalmia, Age...	ORPHA:77298
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Micrognathia, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral p...	OMIM:616171
Congenital Myopathy 19	Skeletal muscle atrophy, Facial hypotonia, Posteriorly rotated ears, Micrognathia, Cryptorchidism...	OMIM:618578
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Kahrizi Syndrome	Cataract, Elbow contracture, Knee flexion contracture, Thick vermilion border, Iris coloboma	OMIM:612713
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Decreased response to growth hormone stimulation test, Unilateral r...	OMIM:609757
Pulmonary Hypoplasia, Primary	Neonatal death, Pulmonary hypoplasia	OMIM:265430
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Hypoplasia of the iris, Hernia, Multicystic kidney dysplasia, Ab...	ORPHA:2092
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta...	ORPHA:411703
Congenital Fibrinogen Deficiency	Hemorrhagic ovarian cyst, Splenic rupture, Gingival bleeding, Left ventricular hypertrophy, Micro...	ORPHA:335
Treacher-Collins Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High p...	ORPHA:861
Rubinstein-Taybi Syndrome 1	Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat...	OMIM:180849
Marden-Walker Syndrome	Decreased muscle mass, Micrognathia, High, narrow palate, Congenital contracture, Hypoplasia of t...	OMIM:248700
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Tonne-Kalscheuer Syndrome	Decreased testicular size, Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, ...	OMIM:300978
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia	Osteopenia, Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Tooth a...	OMIM:147950
Microphthalmia With Limb Anomalies	Frontal bossing, Anophthalmia, Depressed nasal bridge, Posteriorly rotated ears, Unilateral crypt...	OMIM:206920
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum	OMIM:614402
Terminal Osseous Dysplasia	Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone...	OMIM:300244
Holoprosencephaly 1	Diabetes insipidus, Proboscis, Alobar holoprosencephaly, Microcephaly, Adrenal hypoplasia, Single...	OMIM:236100
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Lenz-Majewski Hyperostotic Dwarfism	Joint laxity, Hyperextensibility of the finger joints, Mandibular prognathia, Anterior pituitary ...	OMIM:151050
Alpha-1-Antitrypsin Deficiency	Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch...	OMIM:613490
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia	ORPHA:2016
Split-Hand/Foot Malformation 3	Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Renal hypo...	OMIM:246560
Cantu Syndrome	Bicuspid aortic valve, Anteverted nares, Depressed nasal bridge, Cardiomegaly, Pericardial effusi...	OMIM:239850
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo...	OMIM:604169
Takenouchi-Kosaki Syndrome	Downturned corners of mouth, Short philtrum, Widely spaced teeth, Abnormal periventricular white ...	OMIM:616737
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Thin vermilion border, Abnormal cardiac septum morphology, Nar...	ORPHA:2370
Pelvis-Shoulder Dysplasia	Abnormal pinna morphology, Camptodactyly of finger, Spina bifida, Micrognathia, Hydrocephalus, Bi...	ORPHA:2839
Macdermot-Winter Syndrome	Posteriorly rotated ears, Camptodactyly of finger, Microcephaly, Macrotia, Hydronephrosis	OMIM:247990
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Neu...	OMIM:612541
Hypoglossia With Situs Inversus	Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Low-set ears, Narrow mou...	OMIM:612776
Alg9-Cdg	Micrognathia, Brachycephaly, Right ventricular dilatation, Large fleshy ears, Abnormal left ventr...	ORPHA:79328
Zaki Syndrome	Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Renal agenesis, Congenital diaphragmat...	OMIM:619648
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dental crowding, Cardiomegaly, Prominent nose, High, narrow palate, Pineal cyst, Short philtrum, ...	OMIM:300967
Joubert Syndrome 14	Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Cerebellar vermis hypoplasi...	OMIM:614424
Periventricular Nodular Heterotopia 7	Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul...	OMIM:617201
20P12.3 Microdeletion Syndrome	Depressed nasal bridge, Thickened helices, Hypoplasia of the maxilla, Wide nasal bridge, Microtia...	ORPHA:261295
Microgastria-Limb Reduction Defect Syndrome	Congenital muscular torticollis, Hepatomegaly, Anophthalmia, Frontal bossing, Absent septum pellu...	ORPHA:2538
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasia, Abnormality...	ORPHA:1834
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu...	ORPHA:90117
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ...	OMIM:620233
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Prominent nose, Renal cyst, Lobulated tongue, Unicoronal synostosis, Dandy-Walker malformation, M...	OMIM:616300
Chromosome 1P36 Deletion Syndrome, Proximal	Bicuspid aortic valve, Micrognathia, High palate, Atrial septal defect, Parietal bossing, Patent ...	OMIM:619343
Cerebrooculofacioskeletal Syndrome 1	Diffuse cerebral atrophy, Micrognathia, Basal ganglia calcification, Flexion contracture, Knee fl...	OMIM:214150
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Ap...	ORPHA:990
Bresek Syndrome	Decreased testicular size, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Hydrocephalus, C...	ORPHA:85284
Camptodactyly Syndrome, Guadalajara Type 1	Mandibular prognathia, Attached earlobe, Scapular winging, Low-set, posteriorly rotated ears, Ant...	ORPHA:1327
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi...	ORPHA:177907
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Atrial septal defect...	OMIM:620186
Pterygium Of Conjunctiva And Cornea	Abnormal conjunctiva morphology, Pterygium	OMIM:178000
Aredyld Syndrome	Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Low-set, posteriorly rotated ears...	ORPHA:1133
Thomas Syndrome	Multicystic kidney dysplasia, Cleft upper lip, Renal hypoplasia/aplasia, Cleft palate, Hypoplasti...	ORPHA:3316
3C Syndrome	Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, High, narrow palate, Orofacial cleft, Abno...	ORPHA:7
Lambotte Syndrome	Ventricular septal defect, Microcephaly, Macrotia, Atresia of the external auditory canal, Narrow...	OMIM:245552
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome	Low-set, posteriorly rotated ears, Micrognathia, Abnormality of the nose, Whistling appearance, P...	ORPHA:1150
Monosomy 18Q	Mandibular prognathia, Prominent nose, Secundum atrial septal defect, Bilateral cryptorchidism, D...	ORPHA:1600
Chromosome 14Q11-Q22 Deletion Syndrome	Unilateral cryptorchidism, Anterior pituitary hypoplasia, Micrognathia, Microcephaly, Narrow mout...	OMIM:613457
Oculofaciocardiodental Syndrome	Delayed eruption of teeth, Cataract, Ectopia lentis, Abnormality of the dentition, Submucous clef...	ORPHA:2712
Teebi-Shaltout Syndrome	High, narrow palate, Oligodontia, Small earlobe, Prominent palatine ridges, Ureteral stenosis, Wi...	OMIM:272950
Sweeney-Cox Syndrome	Flat occiput, Uplifted earlobe, Micrognathia, Asplenia, Bilateral cryptorchidism, Brachycephaly, ...	OMIM:617746
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, Abnormally la...	OMIM:245600
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Frontal bossing, Hypoplasia of penis, Anteverted nares, Campto...	ORPHA:1703
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen...	OMIM:618280
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Irregular dentition, Pericardial lymphangiectasia, Depressed nasal bridge, Narrow mouth, Pulmonar...	OMIM:616006
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Diabetes mellitus, Ragged-red muscle fibers, Stroke-like episode, Myopathy, Bilateral sensorineur...	OMIM:540000
You-Hoover-Fong Syndrome	Accessory oral frenulum, Microcephaly, Cleft palate, Coarctation of aorta, Vascular ring, Double ...	OMIM:616954
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy	Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Posteriorly rotated ears, Aspl...	OMIM:619657
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies	Thin upper lip vermilion, Microcephaly, Micrognathia, Prominent nose, Broad nasal tip, Abnormal c...	OMIM:617755
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Flat occiput, High, narrow palate, Narrow palate, Secondary microcephaly, Darwin tubercle of heli...	OMIM:612949
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec...	ORPHA:1686
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Microcephal...	OMIM:616977
Diets-Jongmans Syndrome	Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital dia...	OMIM:618846
Agnathia-Otocephaly Complex	Wide nose, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Conductive hearin...	OMIM:202650
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure...	OMIM:620296
Kleefstra Syndrome	Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Br...	ORPHA:261494
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Acute Lung Injury	Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon...	ORPHA:178320
Desmosterolosis	Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ...	ORPHA:35107
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Ectopic kidney, Conical incisor, Oligodontia, Atrial septal defect, Conductive hearing impairment...	OMIM:235510
2Q32Q33 Microdeletion Syndrome	Decreased testicular size, Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathi...	ORPHA:251019
Webb-Dattani Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid...	OMIM:615926
Microform Holoprosencephaly	Tented upper lip vermilion, Maternal diabetes, Microcephaly, Hypothyroidism, Panhypopituitarism, ...	ORPHA:280200
Renal Tubular Dysgenesis	Microcephaly, Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renot...	ORPHA:3033
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal encephalocele, Liss...	ORPHA:1528
Testicular Anomalies With Or Without Congenital Heart Disease	Inguinal hernia, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism,...	OMIM:615542
Cardiomyopathy, Familial Hypertrophic, 25	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:607487
Hypothyroidism, Congenital, Nongoitrous, 4	Omphalocele, Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Macroglossia, D...	OMIM:275100
Developmental And Epileptic Encephalopathy 70	Microcephaly, Cryptorchidism, Flexion contracture, Low-set ears, Narrow mouth, Cerebral cortical ...	OMIM:618298
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers	Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert...	ORPHA:206546
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti...	ORPHA:231720
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact...	OMIM:612158
Omphalocele-Cleft Palate Syndrome, Lethal	Omphalocele, Hydrocephalus, Bifid uvula, Cleft palate	OMIM:258320
Gaucher Disease Type 2	Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough	ORPHA:77260
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci...	OMIM:300770
Ciliary Dyskinesia, Primary, 1	Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immotile cilia...	OMIM:244400
Chromosome 6Pter-P24 Deletion Syndrome	Tented upper lip vermilion, Dental crowding, Brachycephaly, High palate, Atrial septal defect, Ag...	OMIM:612582
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Orofacial cleft, Developmental cataract, Coloboma, Microp...	ORPHA:324416
Osteopathia Striata With Cranial Sclerosis	Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros...	OMIM:300373
Abruzzo-Erickson Syndrome	Cryptorchidism, Cleft palate, Microcornea, Coloboma, Radioulnar synostosis, Chorioretinal colobom...	ORPHA:921
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hyp...	ORPHA:264200
Hydrolethalus Syndrome 2	Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum	OMIM:614120
Anophthalmia Plus Syndrome	Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ...	ORPHA:1104
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Atrioventricular canal defect, Pelvic...	ORPHA:508498
Nephronophthisis 16	Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis...	OMIM:615382
Frontofacionasal Dysplasia	Encephalocele, Cataract, Brushfield spots, Non-midline cleft lip, Cleft palate, Microcornea, Hypo...	ORPHA:1791
Microphthalmia, Syndromic 2	Anophthalmia, Anteverted ears, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defec...	OMIM:300166
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Micrognathia, Simplified gyral pattern, High palate, Pachygyria, Hia...	OMIM:617729
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova...	ORPHA:244
Partial Atrioventricular Septal Defect	Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri...	ORPHA:1330
Braddock-Carey Syndrome 1	Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Anteverted nares,...	OMIM:619980
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern...	ORPHA:2255
Cousin Syndrome	Frontal bossing, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Microtia, first degree, A...	OMIM:260660
Baraitser-Winter Syndrome 2	Thin upper lip vermilion, Pachygyria, Orofacial cleft, Wide mouth, Coloboma, Lissencephaly, Secon...	OMIM:614583
Ciliary Dyskinesia, Primary, 5	Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn...	OMIM:608647
Cataract 21, Multiple Types	Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi...	OMIM:610202
Alg3-Cdg	Cerebral white matter atrophy, Abnormal pinna morphology, Lipodystrophy, Microcephaly, Hypoplasia...	ORPHA:79321
Flat Face-Microstomia-Ear Anomaly Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Abnormal oral mucosa morphology, Camptodactyl...	ORPHA:1968
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia, Microcephaly	OMIM:616335
Primary Pulmonary Hypoplasia	Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot...	ORPHA:2257
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Pulmonary artery atresia, Vesicoureteral reflux, Micropenis, Agenesis of corpus callo...	OMIM:301056
Intellectual Developmental Disorder, X-Linked, Syndromic, 35	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	OMIM:300998
Isolated Growth Hormone Deficiency, Type Iv	Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth...	OMIM:618157
Thakker-Donnai Syndrome	Communicating hydrocephalus, Ventricular septal defect, Anteverted nares, Congenital diaphragmati...	ORPHA:1780
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di...	OMIM:253700
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome	Hypoplasia of the musculature, Micrognathia, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasi...	OMIM:225790
X-Linked Intellectual Disability, Schimke Type	Narrow nasal bridge, Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee ...	ORPHA:85285
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Exaggerated cupid's bow, Ventricular septal defect, Anteverted nares, Microcephaly, Posteriorly r...	OMIM:618506
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Orofacial cleft, Patent f...	ORPHA:17
Usher Syndrome, Type 1M	Left ventricular hypertrophy, Prelingual sensorineural hearing impairment	OMIM:618632
Congenital Diaphragmatic Hernia	Hypoxemia, Pulmonary hypoplasia, Respiratory distress	ORPHA:2140
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy...	OMIM:601493
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Downturned corners of mouth, High palate, Atrial septal defect, Dandy-Walker malformation, Anteve...	OMIM:220500
3Mc Syndrome 1	Omphalocele, Ventricular septal defect, Dental crowding, Diastasis recti, Cleft upper lip, Microc...	OMIM:257920
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Cryptorchidism, Patent ductus arteriosus, Thick lower lip vermilion, C...	OMIM:619797
Choanal Atresia	Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach...	ORPHA:137914
Auriculocondylar Syndrome 1	Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup...	OMIM:602483
Fryns Microphthalmia Syndrome	Anophthalmia, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia, Macrotia	OMIM:600776
Encephalocraniocutaneous Lipomatosis	Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Cortical dysplasia, Porencephalic...	OMIM:613001
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea, Pulmonary hypoplasia	OMIM:615228
Basel-Vanagaite-Smirin-Yosef Syndrome	Tented upper lip vermilion, Uplifted earlobe, High palate, Short philtrum, Atrial septal defect, ...	OMIM:616449
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Microretrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Ventricular septa...	ORPHA:457193
Pagod Syndrome	Encephalocele, Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Spina ...	ORPHA:991
Weaver-Williams Syndrome	Microcephaly, Protruding ear, Cleft palate, Narrow mouth	ORPHA:3448
Auriculocondylar Syndrome	Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto...	ORPHA:137888
Cerebellar-Facial-Dental Syndrome	Micrognathia, Hypoplasia of the pons, Hypoplasia of the brainstem, Anteverted nares, Cryptorchidi...	ORPHA:444072
Charge Syndrome	Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Secundum atria...	OMIM:214800
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Anteverted nares, Wide nasal bridge, Midline notch of upper alveola...	OMIM:617127
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C...	OMIM:615771
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary...	ORPHA:36238
Nemaline Myopathy 8	Death in infancy, Respiratory failure	OMIM:615348
Gorlin Syndrome	Mandibular prognathia, Vertebral fusion, Cataract, Cerebral calcification, Hypogonadotropic hypog...	ORPHA:377
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p...	OMIM:613038
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177901
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Ventricular septal defect, Prominent nasal bridge, Ectopic kidney, Cryptorchidism, P...	ORPHA:1519
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Czeizel-Losonci Syndrome	Posterolateral diaphragmatic hernia, Low-set, posteriorly rotated ears, Dextrocardia, Spina bifid...	ORPHA:2437
Edinburgh Malformation Syndrome	Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hydrocephalus, Downturned corne...	ORPHA:1895
15Q24 Microdeletion Syndrome	Smooth philtrum, Depressed nasal bridge, Prominent nasal bridge, Congenital diaphragmatic hernia,...	ORPHA:94065
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities	Duplicated collecting system, Hydronephrosis	OMIM:163850
8Q24.3 Microdeletion Syndrome	Branchial cyst, Ectopic posterior pituitary, Bilateral renal hypoplasia, Cleft maxillary alveolar...	ORPHA:508488
Coenzyme Q10 Deficiency, Primary, 8	Flexion contracture, Abnormal renal corticomedullary differentiation, Left ventricular hypertroph...	OMIM:616733
Dihydropyrimidine Dehydrogenase Deficiency	Microcephaly, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum	OMIM:274270
Distal Duplication 5Q	Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Micrognathia, Carious teeth, Mic...	ORPHA:96097
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Polymicrogyria, Orofacial cleft, Retinal coloboma, Microphthalmia, Pa...	ORPHA:2328
Gillespie Syndrome	Hypoplasia of the iris, Cerebellar hypoplasia, Aniridia, Truncus arteriosus, Thin corpus callosum	OMIM:206700
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Hepatomegaly, Abnormality of the philtrum, Microcephaly, Aplas...	ORPHA:1597
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho...	ORPHA:99050
8P Inverted Duplication/Deletion Syndrome	Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Micropenis, Agenesis of...	ORPHA:96092
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H...	OMIM:616414
Faciocardiorenal Syndrome	Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Protruding ear, Plagiocephaly, Horses...	ORPHA:1973
Craniofacial Microsomia 1	Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, A...	OMIM:164210
Limb Body Wall Complex	Congenital diaphragmatic hernia, Atrial septal defect, Ectopia cordis, Spina bifida occulta, Ence...	ORPHA:2369
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Bicuspid aortic valve, Dental crowding, Conductive hearing impairment, Atrial septal defect, Vesi...	ORPHA:353281
Microphthalmia, Syndromic 5	Joint laxity, Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Crypto...	OMIM:610125
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Absent gallbladder, Overriding aorta, Median cleft lip, Microcephaly, Renal hypoplas...	ORPHA:3186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Encephalocele, Death in infancy, Cataract, Peters anomaly, Cleft upper lip, Microcephaly, Hydroce...	OMIM:613150
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98754
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Cleft palate, ...	OMIM:614815
Glass Syndrome	Dental crowding, Conical tooth, Micrognathia, Long nose, Oligodontia, High palate, Anteverted nar...	OMIM:612313
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Hypogonadotropic hypogo...	ORPHA:226307
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Micrognathia, Microcephaly, Precocious puberty, Delayed eruption of permanent t...	OMIM:619356
Congenital Disorder Of Glycosylation, Type Il	Hepatomegaly, Frontal bossing, Depressed nasal bridge, Microcephaly, Pericardial effusion, Brachy...	OMIM:608776
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Prominent nose, Brachycephaly, Protru...	OMIM:612474
Bardet-Biedl Syndrome 16	Bronchiolitis, Recurrent respiratory infections, Respiratory distress	OMIM:615993
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Flat occiput, Micrognathia, Abnormally large globe, High palate, Micropenis, Hepatomegaly, Crypto...	ORPHA:1655
Chronic Beryllium Disease	Lymphocytic interstitial pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Dys...	ORPHA:133
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Flat occiput, Micrognathia, High palate, Micropenis, Hepatomegaly, Thyroid lymphangiectasia, Cryp...	OMIM:235255
Intellectual Disability, Buenos-Aires Type	Mandibular prognathia, Abnormal dental morphology, Microcephaly, Open bite, Dental malocclusion, ...	ORPHA:3079
Hypomelanosis Of Ito	Cataract, Microcephaly, Thick lower lip vermilion, Cerebral atrophy, Irregularly spaced teeth, Ir...	OMIM:300337
Perlman Syndrome	Hypoplasia of penis, Micrognathia, High, narrow palate, Thickened helices, Hepatomegaly, Antevert...	ORPHA:2849
Facial Clefting, Oblique, 1	Microphthalmia, Coloboma, Cleft palate, Cleft upper lip	OMIM:600251
Brain Malformations With Or Without Urinary Tract Defects	Thin upper lip vermilion, Inguinal hernia, Anteverted nares, Overfolded helix, Vesicoureteral ref...	OMIM:613735
Myofibrillar Myopathy 10	Mandibular prognathia, Ankle flexion contracture, Elbow flexion contracture, Knee flexion contrac...	OMIM:619040
Mulibrey Nanism	Dental crowding, Corneal dystrophy, Thickened cortex of long bones, Absent frontal sinuses, Ename...	OMIM:253250
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:220386
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Flexion contracture, Depressed nasal ridge...	ORPHA:93924
Raine Syndrome	Mandibular prognathia, Cerebral calcification, Micrognathia, Brachycephaly, Protruding ear, High ...	OMIM:259775
Joubert Syndrome 37	Hepatomegaly, Frontal bossing, Cerebellar vermis hypoplasia, Anteverted nares, Wide nose, Posteri...	OMIM:619185
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2	Prominent superficial veins, Micrognathia, Microcephaly, Cryptorchidism, Sensorineural hearing im...	OMIM:616817
Chromosome 2P16.1-P15 Deletion Syndrome	Hypoplasia of the pons, High, narrow palate, Cortical dysplasia, Brachycephaly, High palate, Micr...	OMIM:612513
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Short lingual frenulum, Downturned corners of mouth, Short philtrum, Atrial septal defect, Microd...	OMIM:617360
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Hypothyroidism, Congenital, Nongoitrous, 6	Delayed eruption of teeth, Omphalocele, Increased T3/T4 ratio, Congenital hypothyroidism, Macrogl...	OMIM:614450
Neu-Laxova Syndrome 1	Swollen lip, Micrognathia, Depressed nasal ridge, Agenesis of corpus callosum, Patent foramen ova...	OMIM:256520
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:98793
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Microcephaly, Limb-girdle muscle weakness, Increased ...	ORPHA:86812
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity, Median cleft palate	ORPHA:2432
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,...	ORPHA:177904
Charlie M Syndrome	Micrognathia, Non-midline cleft lip, Wide nasal bridge, Tooth agenesis, Thin vermilion border, Sh...	ORPHA:1406
Pituitary Hormone Deficiency, Combined, 3	Anterior hypopituitarism, Gonadotropin deficiency, Decreased response to growth hormone stimulati...	OMIM:221750
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Ureteral duplication, Congenital diaphragmatic hernia, Micrognathia, Large fleshy ears, High pala...	OMIM:614080
Adams-Oliver Syndrome 5	Inguinal hernia, Hypersplenism, Splenomegaly, Right atrial enlargement, Pulmonic stenosis, Umbili...	OMIM:616028
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome	Conductive hearing impairment, Abnormality of the urinary system, Bifid uvula, Hydronephrosis	ORPHA:2669
Cardiomyopathy, Familial Hypertrophic, 21	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myofiber disarray, Mitral valve prolapse	OMIM:614676
Cockayne Syndrome Type 2	Mandibular prognathia, Anophthalmia, Delayed eruption of primary teeth, Cryptorchidism, Flexion c...	ORPHA:90322
Linear Verrucous Nevus Syndrome	Cataract, Reduced bone mineral density, Aplasia/Hypoplasia of the corpus callosum, Abnormal corne...	ORPHA:2611
Hypomandibular Faciocranial Dysostosis	Midface retrusion, Anteverted nares, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Craniosyno...	ORPHA:1790
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Thin corpus callosum, Abnormality of the anterior commissure, Pachygyria, Optic nerve hypoplasia	ORPHA:572013
2Q24 Microdeletion Syndrome	Cataract, Camptodactyly of finger, Abnormality iris morphology, Cleft palate, Coloboma, Abnormal ...	ORPHA:1617
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Dental crowding, Anterior pituitary hypoplasia, Prominent nose, Bilateral cryptorchidism, High, n...	ORPHA:466791
Trisomy 20P	Micrognathia, Brachycephaly, Protruding ear, Downturned corners of mouth, Short philtrum, Hernia,...	ORPHA:261318
Lessel-Kubisch Syndrome	Narrow nasal bridge, Renal insufficiency, Renal hypoplasia, Hypogonadism, Narrow mouth	OMIM:618681
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Frontal bossing, Inguinal hernia, Ventricular septal defect, Craniosynostosis, Micrognathia, Unde...	ORPHA:166035
Hypertrichosis Cubiti	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,...	ORPHA:2220
Non-Syndromic Metopic Craniosynostosis	Trigonocephaly, Omphalocele, Wide nasal bridge	ORPHA:3366
Idiopathic Pulmonary Hemosiderosis	Crackles, Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Dyspnea, Ground-glass o...	ORPHA:99931
Cat-Eye Syndrome	Microphthalmia, Iris coloboma, Chorioretinal coloboma	ORPHA:195
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Limb joint contracture, Hypogonadotropic hypogonadism, Microcephaly, Carious teeth, Central adren...	OMIM:612079
Melnick-Needles Syndrome	Delayed eruption of teeth, Craniofacial hyperostosis, Frontal bossing, Omphalocele, Micrognathia,...	ORPHA:2484
Aortic Aneurysm, Familial Thoracic 10	Aortic arch aneurysm, Bicuspid aortic valve, Dental crowding, Thoracic aortic aneurysm, Fusiform ...	OMIM:617168
Encephalocraniocutaneous Lipomatosis	Craniofacial hyperostosis, Cerebral calcification, Lipodystrophy, Absent septum pellucidum, Cereb...	ORPHA:2396
Acrocallosal Syndrome	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Agen...	OMIM:200990
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Omphalocele, Depressed nasal bridge, Ventricular septal defect, Dolichocephaly, Prominent occiput...	OMIM:617895
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Robinow Syndrome	Dental crowding, Micrognathia, Pulmonary valve atresia, Orofacial cleft, Atrial septal defect, We...	ORPHA:97360
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Recurrent respiratory infections, Nasal polyposis, Sinusitis, Bronchiectasi...	OMIM:606763
Simpson-Golabi-Behmel Syndrome, Type 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Renal cyst,...	OMIM:312870
Atrial Septal Defect 7 With Or Without Atrioventricular Conduction Defects	Ventricular septal defect, Secundum atrial septal defect, Subvalvular aortic stenosis, Left ventr...	OMIM:108900
Simosa Craniofacial Syndrome	Inguinal hernia, Posteriorly rotated ears, Abnormal pinna morphology, Underdeveloped nasal alae, ...	OMIM:182150
Pierpont Syndrome	Joint laxity, Thin upper lip vermilion, Abnormal cortical gyration, Cryptorchidism, Microcornea, ...	ORPHA:487825
Peroxisome Biogenesis Disorder 6A (Zellweger)	Hepatomegaly, Wide nasal bridge, Renal cyst, Low-set ears, Pachygyria	OMIM:614870
Nabais Sa-De Vries Syndrome, Type 2	Frontal bossing, Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Prominen...	OMIM:618829
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Omphalocele, Ventricular septal defect, Bicuspid aortic valve, Premature thelarche, Brachycephaly...	ORPHA:371428
Cat-Eye Syndrome (Type I)	Iris coloboma, Micrognathia	DECIPHER:42
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Simplified gyral pattern, Colpocephaly,...	OMIM:615219
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Craniosynostosis, Absent septum pellucidum, Frontal encephalocele, Lissen...	OMIM:218670
Marden-Walker Syndrome	Skeletal muscle atrophy, Micrognathia, Epispadias, Agenesis of corpus callosum, Bifid uvula, Abno...	ORPHA:2461
Curry-Jones Syndrome	Craniosynostosis, Optic disc coloboma, Microphthalmia, Agenesis of corpus callosum, Iris coloboma	ORPHA:1553
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Coloboma, Microphthalmia	OMIM:251505
Peroxisome Biogenesis Disorder 2A (Zellweger)	Hepatomegaly, Turricephaly, Micrognathia, Dolichocephaly, Cryptorchidism, Cleft palate, Abnormal ...	OMIM:214110
Polycystic Kidney Disease 7	Renal insufficiency, Renal atrophy, Stage 5 chronic kidney disease, Multiple renal cysts, Renal i...	OMIM:620056
Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type)	Left ventricular hypertrophy, Increased urine alpha-ketoglutarate concentration, Global brain atr...	OMIM:614458
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Cerebellar agenesis, Hydranencephaly, Da...	OMIM:617967
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Left ventricular hypertrophy, Ventricular hypertrophy, Increased urine succinate level, Hepatomegaly	OMIM:619048
Xq28 (MECP2) duplication	Depressed nasal bridge, Microcephaly, Functional abnormality of the bladder, Brachycephaly, Hypop...	DECIPHER:45
Mosaic Variegated Aneuploidy Syndrome 2	Frontal bossing, Ventricular septal defect, Depressed nasal bridge, Craniosynostosis, Micrognathi...	OMIM:614114
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Bilateral lung agenesis, Respiratory insufficiency	OMIM:601612
Prune Belly Syndrome With Pulmonic Stenosis, Mental Retardation, And Deafness	Hydroureter, Sensorineural hearing impairment, Pulmonic stenosis, Prune belly, Hydronephrosis	OMIM:264140
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia	OMIM:619057
RCAD (renal cysts and diabetes)	Diabetes mellitus, Multiple renal cysts	DECIPHER:47
Gabriele-De Vries Syndrome	Facial hypotonia, Aortopulmonary collateral arteries, Posteriorly rotated ears, Abnormality of th...	OMIM:617557
Atrial Fibrillation, Familial, 6	Left ventricular hypertrophy, Left atrial enlargement	OMIM:612201
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Everted upper lip vermilion, Ventricular septal defect, Anteverted nares, Depressed nasal bridge,...	ORPHA:513456
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephaly	OMIM:618160
Insulin-Like Growth Factor I, Resistance To	Reduced subcutaneous adipose tissue, Thin upper lip vermilion, Rieger anomaly, Diabetes mellitus,...	OMIM:270450
Cranioectodermal Dysplasia 2	Micrognathia, Renal cyst, Fused teeth, High palate, Widely spaced teeth, Atrial septal defect, Mi...	OMIM:613610
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Accessory oral frenulum, Flexion contracture, Osteolysis involving bones of the upper limbs, Oste...	ORPHA:88630
Orofaciodigital Syndrome Xix	Downturned corners of mouth, Lobulated tongue, High palate, Microdontia, Thick nasal alae, Underf...	OMIM:620107
Fryns Syndrome	Ureteral duplication, Tented upper lip vermilion, Ectopic pancreatic tissue, Renal cyst, Atrial s...	OMIM:229850
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi...	OMIM:612387
Okamoto Syndrome	Tented upper lip vermilion, Urinary incontinence, Abnormally large globe, Primum atrial septal de...	ORPHA:2729
Waardenburg Syndrome, Type 4C	Lacrimal gland hypoplasia, Cryptorchidism, White eyelashes, White eyebrow	OMIM:613266
Fontaine Progeroid Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Micrognathia, High, n...	OMIM:612289
Autism, Susceptibility To, X-Linked 6	Underdeveloped nasal alae, Short philtrum, Narrow mouth	OMIM:300872
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Cryptorchidism, Hypoplasia of the lacrimal punct...	ORPHA:2363
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Frontal bossing, Posteriorly rotated ears, Decreased response to growth hormone stimulation test,...	OMIM:617260
Nemaline Myopathy 2	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co...	OMIM:256030
Meckel Syndrome, Type 6	Occipital encephalocele, Absent gallbladder, Cleft upper lip, Hydrocephalus, Anencephaly, Cleft p...	OMIM:612284
Marshall-Smith Syndrome	Irregular dentition, Bilateral cryptorchidism, Glossoptosis, Short philtrum, High palate, Choanal...	OMIM:602535
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Omphalocele, Inguinal hernia, Exaggerated cupid's bow, Diastasis recti, Anteverted nares, Depress...	ORPHA:254528
Pallister-Hall Syndrome	Thyroid dysgenesis, Decreased circulating cortisol level, Decreased response to growth hormone st...	OMIM:146510
Phaver Syndrome	Ventricular septal defect, Camptodactyly of finger, Depressed nasal bridge, Posteriorly rotated e...	ORPHA:2876
Chromosome 13Q14 Deletion Syndrome	Thin upper lip vermilion, Absent septum pellucidum, Supernumerary nipple, Micrognathia, Cryptorch...	OMIM:613884
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Ventricular septal defect, Anteverted nares, Posteriorly rotated ears, Cardiomegaly, Micrognathia...	OMIM:616897
Basel-Vanagaite-Smirin-Yosef Syndrome	Mandibular prognathia, Tented upper lip vermilion, High, narrow palate, Short philtrum, Male uret...	ORPHA:464738
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Pulmonary Hemosiderosis	Recurrent intrapulmonary hemorrhage, Transient pulmonary infiltrates, Pulmonary fibrosis, Respira...	OMIM:178550
Gombo Syndrome	Microphthalmia, Delayed puberty, Microcephaly	OMIM:233270
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Deep philtrum, Brachycephaly, Renal cyst, Downturned corners of mouth, Nephrocalcinosis, High pal...	OMIM:615398
Toluene Embryopathy	Microcephaly, Micrognathia, Cryptorchidism, Abnormal localization of kidney, Protruding ear, Thin...	ORPHA:1920
Indomethacin Embryofetopathy	Renal insufficiency, Multicystic kidney dysplasia, Ventricular septal defect, Cardiomyopathy, Atr...	ORPHA:1909
Viss Syndrome	Tortuous cerebral arteries, Epidural hemorrhage, Micrognathia, High, narrow palate, Brachycephaly...	OMIM:619472
Femoral-Facial Syndrome	Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Abnormal pinna morphology, ...	OMIM:134780
Noonan Syndrome 8	Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pulmonic stenosis, Low-set e...	OMIM:615355
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Hypoplasi...	ORPHA:1529
Ceroid Lipofuscinosis, Neuronal, 10	Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:610127
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Abnorma...	ORPHA:3092
Combined Oxidative Phosphorylation Deficiency 30	Left ventricular hypertrophy, Sensorineural hearing impairment, Polymicrogyria	OMIM:616974
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Bicuspid aortic valve, Protruding ear, Downturned corners of mouth, Atrial septal defect, Cavum s...	ORPHA:329224
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev...	ORPHA:70578
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Absent frontal sinuses, Widely-spaced maxillary central incisors, Micropen...	OMIM:301040
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Autosomal Recessive Robinow Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Micrognathia, Orofacial cleft, Downturned corner...	ORPHA:1507
Simpson-Golabi-Behmel Syndrome	Mandibular prognathia, Ureteral duplication, Hypoplasia of penis, Congenital diaphragmatic hernia...	ORPHA:373
Mosaic Variegated Aneuploidy Syndrome 1	Micrognathia, Hypodysplasia of the corpus callosum, Brachycephaly, Renal cyst, Atrial septal defe...	OMIM:257300
Hartsfield Syndrome	Encephalocele, Craniosynostosis, Non-midline cleft lip, Cleft palate, Lobar holoprosencephaly, Ap...	ORPHA:2117
Mosaic Trisomy 9	Hypoplasia of penis, Micrognathia, Asplenia, High palate, Biparietal narrowing, Endocardial fibro...	ORPHA:99776
Isolated Growth Hormone Deficiency, Type Ii	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	OMIM:173100
Curry-Jones Syndrome	Lip pit, Unicoronal synostosis, Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Microph...	OMIM:601707
Myopathy, Centronuclear, 5	Hip contracture, Centrally nucleated skeletal muscle fibers, Micrognathia, Dilated cardiomyopathy...	OMIM:615959
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Lacrimal duct atresia	ORPHA:139450
Renpenning Syndrome 1	Mandibular prognathia, Micrognathia, Brachycephaly, Protruding ear, High palate, Short philtrum, ...	OMIM:309500
Fraser Syndrome 1	Anophthalmia, Dental crowding, Cleft ala nasi, Abnormal thymus morphology, Choanal stenosis, Cond...	OMIM:219000
Caudal Duplication	Abnormal penis morphology, Ureteral duplication, Omphalocele, Spina bifida, Renal hypoplasia/apla...	ORPHA:1756
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Prominent nasal bridge, Carious teeth, Thick lower lip vermilion, Narrow palate, Leukoencephalopa...	ORPHA:457365
Ohdo Syndrome	Anteverted nares, Depressed nasal bridge, Hearing impairment, Micrognathia, Proteinuria, Cryptorc...	OMIM:249620
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Hepatic Veno-Occlusive Disease	Jaundice, Respiratory failure	ORPHA:890
Tangier Disease	Hepatomegaly, Splenomegaly, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, Cor...	OMIM:205400
Vici Syndrome	Schizencephaly, Cerebellar vermis hypoplasia, Micrognathia, Leukopenia, T lymphocytopenia, Abnorm...	OMIM:242840
Culler-Jones Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Cleft upper lip, Cryptorchidism, Clef...	OMIM:615849
Koolen-De Vries Syndrome	Ureteral duplication, Bicuspid aortic valve, High, narrow palate, Protruding ear, Microdontia, Ve...	ORPHA:96169
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Conducti...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Atrial septal defect, Conducti...	ORPHA:353277
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Bardet-Biedl Syndrome 10	Renal insufficiency, Hypogonadism, Renal cyst	OMIM:615987
Musculocontractural Ehlers-Danlos Syndrome	Decreased muscle mass, Functional abnormality of the bladder, Protruding ear, High palate, Micror...	ORPHA:2953
19P13.3 Microduplication Syndrome	Ventricular septal defect, Posteriorly rotated ears, Unilateral cryptorchidism, Micrognathia, Mic...	ORPHA:447980
Alzahrani-Kuwahara Syndrome	Micrognathia, Prominent nose, Atrial septal defect, Cavum septum pellucidum, Patent foramen ovale...	OMIM:619268
Mycophenolate Mofetil Embryopathy	Micrognathia, Hydrocephalus, Orofacial cleft, Chorioretinal coloboma, Tracheomalacia, Microphthal...	ORPHA:268249
Combined Oxidative Phosphorylation Deficiency 31	Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Bulbous nose, Wide mouth, L...	OMIM:617228
Image Syndrome	Frontal bossing, Depressed nasal bridge, Hypospadias, Adrenal hypoplasia, Cryptorchidism, Hypogon...	ORPHA:85173
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Thin upper lip vermilion, Microcephaly, Unilateral microphthalmos, Bilateral cleft lip and palate...	OMIM:618874
Pai Syndrome	Encephalocele, Median cleft lip, Cleft palate, Aplasia/Hypoplasia of the corpus callosum, Bifid u...	ORPHA:1993
Cat Eye Syndrome	Ventricular septal defect, Renal agenesis, Micrognathia, Patent ductus arteriosus, Vesicoureteral...	OMIM:115470
Microphthalmia, Lenz Type	Delayed eruption of teeth, Cataract, Abnormal dental morphology, Camptodactyly of finger, Abnorma...	ORPHA:568
Ring Chromosome 13 Syndrome	Frontal bossing, Hypoplasia of the gallbladder, Anteverted nares, Depressed nasal bridge, Posteri...	ORPHA:96176
Distal Deletion 12Q	Micrognathia, Ectopic kidney, High, narrow palate, Brachycephaly, Vesicoureteral reflux, Micropen...	ORPHA:96149
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Median cleft lip, Micrognathia, Microcephaly, Hydrocep...	OMIM:241800
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia, Subcutaneous hemorrhage, Pulmonary hemorrhage	ORPHA:238459
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Partial agenesis of the corpus callosum, Thickened helices, Atrioventricular canal defect, Bifid ...	OMIM:619480
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure	OMIM:225753
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects	Progressive microcephaly, Tongue fasciculations, Facial myokymia, Narrow mouth	OMIM:620007
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Freeman-Sheldon Syndrome	Camptodactyly of finger, Abnormality of the dentition, Underdeveloped nasal alae, Narrow mouth, C...	ORPHA:2053
Alagille Syndrome 2	Renal insufficiency, Proteinuria, Long nose, Renal hypoplasia, Renal cyst, Hematuria, Renal tubul...	OMIM:610205
Richieri-Costa/Guion-Almeida Syndrome	Mandibular prognathia, Cleft upper lip, Microcephaly, Cleft palate, Malar flattening, Spina bifid...	OMIM:268850
Crouzon Syndrome	Hypoplasia of the maxilla, Hydrocephalus, Narrow palate, Multiple suture craniosynostosis, Conjun...	ORPHA:207
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Hypoplasia of penis, Posteriorly rotated ears, Prominent nasal bridge, Camptodactyly of finger, M...	ORPHA:2083
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Microcephaly, Hydrocephalus, Flexion contracture, Coloboma, Pro...	OMIM:615249
Congenital Arthrogryposis With Anterior Horn Cell Disease	Neonatal death, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:611890
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	ORPHA:228190
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Micrognathia, Coloboma, Congenital contracture, Megalocornea, Pachygyria...	OMIM:236670
Joubert Syndrome With Renal Defect	Encephalocele, Hydrocephalus, Orofacial cleft, Cleft palate, Abnormality of the hypothalamus-pitu...	ORPHA:220497
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Omphalocele, Anteverted nares, Congenital diaphragmatic hernia, Low-set ears, Abnormality of the ...	OMIM:601163
Lacrimoauriculodentodigital Syndrome 1	Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Hypopla...	OMIM:149730
Cardiomyopathy, Dilated, 1U	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613694
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Hepatomegaly, Ventricular septal defect, Ectopic kidney, Cryptorchidism, Secondary microcephaly, ...	OMIM:613730
Al-Raqad Syndrome	Thin upper lip vermilion, Microcephaly, Low-set ears, Narrow mouth, Atrial septal defect, Short nose	OMIM:616459
Gm1 Gangliosidosis	Mandibular prognathia, Depressed nasal ridge, Encephalomalacia, Cherry red spot of the macula, De...	ORPHA:354
Matthew-Wood Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Cryptorchidism, Renal hypoplasia, Aplasia/Hypoplas...	ORPHA:2470
Atrial Fibrillation, Familial, 10	Right ventricular dilatation, Left ventricular hypertrophy, Stroke, Left atrial enlargement	OMIM:614022
Syngap1-Related Developmental And Epileptic Encephalopathy	Hypospadias, Abnormal tongue physiology, Microcephaly, Anteverted ears, Wide mouth, Thin vermilio...	ORPHA:544254
Congenital Tracheomalacia	Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac...	ORPHA:95430
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Band keratopathy, Hydrocephalus, Hypoplasia of the iris, Anterior synechiae of the anterior chamb...	OMIM:614195
Coffin-Siris Syndrome 3	Wide nose, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Hearing impairment, Microce...	OMIM:614608
Cardiac Valvular Dysplasia 1	Arteria lusoria, Atrial septal defect, Pulmonary artery atresia, Patent foramen ovale, Pulmonic s...	OMIM:212093
Alpha-1-Antitrypsin Deficiency	Emphysema, Jaundice	ORPHA:60
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Tented upper lip vermilion, Flexion contracture, Downturned corners of mouth, Short philtrum, Wid...	ORPHA:487796
Bor Syndrome	Branchial cyst, Renal insufficiency, Multicystic kidney dysplasia, Facial palsy, Abnormality of t...	ORPHA:107
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Prominent nose, Brachycephaly, Atrial septal defect, Bifid uvula, Dandy-Walker malformation, Depr...	OMIM:300968
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Abnormal occipital bone morphology, Hypoplasia of the pons, Cortical...	ORPHA:468631
Cardiomyopathy, Familial Hypertrophic, 20	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613876
Trisomy 18P	Abnormal pinna morphology, Facial palsy, Micrognathia, Microcephaly, High, narrow palate, Underde...	ORPHA:1715
Zika Virus Disease	Optic disc hypoplasia, Miscarriage, Microcephaly, Congenital intracerebral calcification, Chorior...	ORPHA:448237
Congenital Herpes Simplex Virus Infection	Hydranencephaly, Microcephaly	ORPHA:293
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Craniosynostosis, Abnormality of the dentition, Microcephaly, Deep philtr...	ORPHA:251038
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Cataract, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Diffuse w...	ORPHA:370959
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Frontal bossing, Hearing impairment, Micrognathia, Partial agenesis of the corpus callosum, Macro...	OMIM:620250
Cardiomyopathy, Dilated, 1Kk	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Ventricular se...	OMIM:615248
Fg Syndrome Type 1	Limited elbow extension and supination, Progressive flexion contractures, Dental crowding, Cranio...	ORPHA:93932
Clark-Baraitser Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Anteverted nares, Depressed nasal bridge, Micr...	OMIM:617752
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Micrognathia, Downturned corners of mouth, Oligodontia, Hypoplasia of the brainstem, Short philtr...	ORPHA:391408
Isolated Anencephaly	Omphalocele, Thymus hyperplasia, Adrenal hypoplasia, Congenital diaphragmatic hernia, Maternal di...	ORPHA:563609
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Posteriorly rotated ears, Microcephaly, Cleft lip, Cleft palate, Downturned corners of mouth, Pla...	OMIM:618089
Congenital Disorder Of Glycosylation, Type Ii	Joint laxity, Cataract, Microcephaly, Thin corpus callosum, High palate, Focal T2 hyperintense ba...	OMIM:607906
Nizon-Isidor Syndrome	Thin upper lip vermilion, High, narrow palate, Downturned corners of mouth, Short philtrum, Evert...	OMIM:618872
Larsen-Like Syndrome, Lethal Type	Neonatal death, Tracheomalacia, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:245650
Cardiac-Valvular Ehlers-Danlos Syndrome	Inguinal hernia, Abnormal heart valve morphology, Dental crowding, Bulbous nose, Severe conductiv...	ORPHA:230851
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Reduced cerebral white matter volume, Uplifted earlobe, Brachycephaly, Short philtrum, Widely spa...	OMIM:280000
Warburg Micro Syndrome 4	Decreased testicular size, Decreased muscle mass, Anteverted nares, Prominent nasal bridge, Narro...	OMIM:615663
Down Syndrome	Depressed nasal ridge, Brachycephaly, Downturned corners of mouth, Conductive hearing impairment,...	ORPHA:870
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Micrognathia, Microcephaly, Knee flexion contracture, Astigmatism, Widely spaced teeth,...	OMIM:619694
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Pursed lips, Slender nose, Micrognathia, Microcephaly, Flexion contracture, Brachycephaly, Wide n...	ORPHA:562528
Oculoauricular Syndrome	Posterior embryotoxon, Cataract, Short mandibular rami, Sclerocornea, Phthisis bulbi, Chorioretin...	OMIM:612109
Beckwith-Wiedemann Syndrome	Omphalocele, Hepatomegaly, Adrenocortical cytomegaly, Diastasis recti, Nephroblastoma, Cardiomega...	OMIM:130650
X-Linked Intellectual Disability Due To Gria3 Mutations	Mandibular prognathia, Cerebellar vermis hypoplasia, Facial hypotonia, Uplifted earlobe, Cryptorc...	ORPHA:364028
Coffin-Siris Syndrome 2	High palate, Short philtrum, Dandy-Walker malformation, Anteverted nares, Depressed nasal bridge,...	OMIM:614607
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Mandibular prognathia, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced tee...	ORPHA:369891
Joubert Syndrome With Ocular Defect	Encephalocele, Hydrocephalus, Orofacial cleft, Cleft palate, Retinal coloboma, Abnormality of the...	ORPHA:220493
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val...	ORPHA:75566
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Microcephaly, Hydrocephalus, Flexion contracture, Developmental cataract, Macroglossia, Hypoplasi...	OMIM:613155
Micro Syndrome	Low-set, posteriorly rotated ears, Hypoplasia of penis, Cerebellar vermis hypoplasia, Anteverted ...	ORPHA:2510
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
2P15P16.1 Microdeletion Syndrome	Brachycephaly, Protruding ear, High palate, Multicystic kidney dysplasia, Facial palsy, Wide nasa...	ORPHA:261349
Tarp Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Posteriorly rotated ears, Micrognathia, Subdural ...	OMIM:311900
Pseudodiastrophic Dysplasia	Omphalocele, Malar flattening	ORPHA:85174
Rere-Related Neurodevelopmental Syndrome	Micrognathia, Cryptorchidism, Astigmatism, Chorioretinal coloboma, Peters anomaly, Hypoplasia of ...	ORPHA:494344
Femoral-Facial Syndrome	Thin upper lip vermilion, Inguinal hernia, Maternal diabetes, Micrognathia, Renal hypoplasia/apla...	ORPHA:1988
Developmental And Epileptic Encephalopathy 109	Left ventricular hypertrophy, Primary microcephaly	OMIM:620145
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Lambert Syndrome	Inguinal hernia, Ventricular septal defect, Hypospadias, Wide mouth, Branchial anomaly, Aplasia/H...	ORPHA:1296
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Frontal bossing, Depressed nasal bridge, Cryptorchidism, Bulbous nose, Brachycephaly, Wide mouth,...	OMIM:616789
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Anteverted nares, Camptodactyly...	ORPHA:83
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Optic disc coloboma, Cleft palate, High palate, Retrognathia, Agenesis of corpus callosum, Iris c...	ORPHA:52055
Congenital Disorder Of Glycosylation, Type Iie	Skeletal muscle atrophy, Micrognathia, Secundum atrial septal defect, Hepatomegaly, Perimembranou...	OMIM:608779
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism	Pituitary hypothyroidism, Thin corpus callosum, Anterior pituitary hypoplasia	OMIM:619983
Cardioacrofacial Dysplasia 1	Accessory oral frenulum, Conical tooth, Diastema, Complete atrioventricular canal defect, Hypopla...	OMIM:619142
Trigonocephaly With Short Stature And Developmental Delay	Inguinal hernia, Ventricular septal defect, Posteriorly rotated ears, Sagittal craniosynostosis, ...	OMIM:314320
Igg4-Related Ophthalmic Disease	Palpebral edema, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, Orchitis...	ORPHA:449563
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Multicystic kidney dysplasia, Agenesis of c...	OMIM:615287
Bohring-Opitz Syndrome	Micrognathia, Flexion contracture, Hypoplasia of the brainstem, Atrial septal defect, Vesicourete...	OMIM:605039
Marbach-Rustad Progeroid Syndrome	Reduced subcutaneous adipose tissue, Prominent superficial veins, Convex nasal ridge, Delayed eru...	OMIM:619322
Kapur-Toriello Syndrome	Cataract, Camptodactyly of finger, Cleft upper lip, Pachygyria, Cryptorchidism, Polymicrogyria, C...	OMIM:244300
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Hypogonadotropic hypogonadism, Camptodactyly of finger, Micrognathia, Malar prominence,...	ORPHA:48431
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Ground-glass opacification, Nonpr...	ORPHA:454836
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Absent outer dynein arms, Pulmonary artery st...	OMIM:615067
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Mandibular prognathia, Inguinal hernia, Anophthalmia, Camptodactyly of finger, Hypoplasia of the ...	ORPHA:1101
De Barsy Syndrome	Decreased muscle mass, Cerebellar vermis hypoplasia, Brachycephaly, Prominent veins on trunk, Hig...	ORPHA:2962
Potocki-Lupski Syndrome	Mandibular prognathia, Dental crowding, Trigonocephaly, Micrognathia, Microcephaly, Hypothyroidis...	OMIM:610883
Peroxisome Biogenesis Disorder 3A (Zellweger)	Hepatomegaly, Wide nasal bridge, Low-set ears, Polycystic kidney dysplasia, Vascular dilatation	OMIM:614859
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Hennekam Syndrome	Abnormal oral mucosa morphology, Ectopic kidney, Short philtrum, Conductive hearing impairment, P...	ORPHA:2136
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Reduced cerebral white matter volume, Microcephaly, Narrow mouth, Wide nasal bridge, Downturned c...	OMIM:617333
Dacryocystitis-Osteopoikilosis Syndrome	Dacryocystitis	ORPHA:1562
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Turricephaly, Cloverleaf skull, Anteverted nares, Depressed nasal bridge, Choanal atresia, Cranio...	ORPHA:1555
Deeah Syndrome	Death in infancy, Decreased response to growth hormone stimulation test, Anterior pituitary hypop...	OMIM:619004
Mesomelia-Synostoses Syndrome	Micrognathia, Aplasia/Hypoplasia of the uvula, High, narrow palate, Narrow mouth, Bulbous nose, H...	ORPHA:2496
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Hypoplasia of penis, Anophthalmia, Inguinal hernia, Cryptorchidism, Submucous cleft hard palate, ...	ORPHA:2250
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Low-set, posteriorly rotated ears, Renal insufficiency, Proteinuria, Prominent...	ORPHA:1307
Kleefstra Syndrome Due To 9Q34 Microdeletion	Hypoplasia of penis, Flat occiput, Brachycephaly, Conotruncal defect, Downturned corners of mouth...	ORPHA:96147
White-Sutton Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the pons, Brachycephaly, Downturned corners of mou...	ORPHA:468678
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Mandibular prognathia, Micrognathia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesi...	OMIM:619512
Arthrogryposis, Distal, Type 2A	Mandibular prognathia, Dental crowding, Knee flexion contracture, Hypoplasia of the brainstem, Hi...	OMIM:193700
Cardiomyopathy, Familial Hypertrophic, 18	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613874
Intellectual Disability, Wolff Type	Microretrognathia, Camptodactyly of finger, Cryptorchidism, Non-midline cleft lip, Thick lower li...	ORPHA:3080
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ...	OMIM:620265
Familial Hyperaldosteronism Type Iii	Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c...	ORPHA:251274
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Craniosynostosis, Micrognathia, Vesicoureteral reflux, Cleft palate, Plagiocephaly, Decreased cal...	OMIM:618265
Succinic Acidemia	Respiratory distress	OMIM:600335
Coach Syndrome 1	Encephalocele, Hepatomegaly, Occipital encephalocele, Cerebellar vermis hypoplasia, Anteverted na...	OMIM:216360
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Chorioretinal coloboma,...	OMIM:234100
Isolated Anencephaly/Exencephaly	Primary adrenal insufficiency, Anencephaly	ORPHA:1048
Pituitary Gigantism	Mandibular prognathia, Frontal bossing, Elevated circulating growth hormone concentration, Increa...	ORPHA:99725
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Absent nipple, Depressed nasal bridge, Patent ductus arteriosus, Hydrocephalus, Wide nasal bridge...	OMIM:104350
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Tented upper lip vermilion, Facial hypotonia, Anteverted nares, Depressed nasal bridge, Microceph...	OMIM:300260
Mucopolysaccharidosis, Type X	Thickened aortic valve cusp, Diastema, Open bite, Wide nasal bridge, Nephrolithiasis, Dermatan su...	OMIM:619698
Distal Deletion 15Q	Flat occiput, Bicuspid aortic valve, Congenital diaphragmatic hernia, Micrognathia, Abnormal aort...	ORPHA:1596
Omphalocele	Omphalocele	ORPHA:660
Distal Arthrogryposis Type 1	Camptodactyly of finger, Narrow mouth	ORPHA:1146
Distal Duplication 18Q	Abnormal dental morphology, Camptodactyly of finger, Micrognathia, Carious teeth, Cryptorchidism,...	ORPHA:1716
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Respiratory failure, Apnea	OMIM:616277
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome	Tooth agenesis, Non-midline cleft lip, Cleft palate, Cryptorchidism	ORPHA:1074
Congenital Gerbode Defect	Ventricular septal defect, Right atrial enlargement, Perimembranous ventricular septal defect, Pu...	ORPHA:99095
Epidermodysplasia Verruciformis, Susceptibility To, 4	Emphysema, Facial erythema	OMIM:618307
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
17Q23.1Q23.2 Microdeletion Syndrome	Frontal bossing, Depressed nasal bridge, Microcephaly, Patent ductus arteriosus, Bulbous nose, Pr...	ORPHA:261279
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Congenital Myopathy 21 With Early Respiratory Failure	Dyspnea, Respiratory failure, Nocturnal hypoventilation, Lipoid pneumonia	OMIM:620326
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia	Osteopenia, Cryptorchidism, Osteoporosis, Cleft palate, Small pituitary gland, Decreased testicul...	OMIM:614880
Lissencephaly 9 With Complex Brainstem Malformation	Microcephaly, Hypoplastic anterior commissure, Lissencephaly, Hypoplasia of the corpus callosum, ...	OMIM:618325
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Downturned corners of mouth, Periodontitis, Hernia, Long ph...	ORPHA:955
Anencephaly 1	Anencephaly, Spina bifida	OMIM:206500
Beckwith-Wiedemann Syndrome	Mandibular prognathia, Ureteral duplication, Congenital diaphragmatic hernia, Cardiomegaly, Leiom...	ORPHA:116
Craniorachischisis	Omphalocele, Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephal...	ORPHA:63260
Isolated Succinate-Coq Reductase Deficiency	Noncompaction cardiomyopathy, Skeletal muscle atrophy, Vesicoureteral reflux, Knee flexion contra...	ORPHA:3208
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies	Patent ductus arteriosus, Bicuspid aortic valve, Pseudocoarctation of the aorta	OMIM:604381
Fibrochondrogenesis 1	Omphalocele, Frontal bossing, Anteverted nares, Depressed nasal bridge, Abnormal pinna morphology...	OMIM:228520
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Micrognathia, Microcephaly, Cleft lip, Cryptorchidism, Hypoplastic anterior commissure, Furrowed ...	OMIM:616975
Combined Oxidative Phosphorylation Defect Type 23	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Abnormal basal ganglia MRI signal inte...	ORPHA:444013
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Respiratory failure	OMIM:618637
Osteogenesis Imperfecta, Type Xii	Delayed eruption of teeth, Midface retrusion, Depressed nasal bridge, Micrognathia, Progressive h...	OMIM:613849
Bardet-Biedl Syndrome 7	Hypogonadism, Malar flattening, Depressed nasal bridge, Narrow mouth	OMIM:615984
Mandibuloacral Dysplasia With Type B Lipodystrophy	Loss of subcutaneous adipose tissue in limbs, Prominent superficial veins, Decreased adipose tiss...	OMIM:608612
Lipodystrophy Due To Peptidic Growth Factors Deficiency	Reduced subcutaneous adipose tissue, Lipodystrophy, Lipoatrophy, Micrognathia, Flexion contractur...	ORPHA:1979
8Q21.11 Microdeletion Syndrome	Wide nose, Hypoplasia of penis, Exaggerated cupid's bow, Camptodactyly of finger, Abnormality of ...	ORPHA:284160
Kury-Isidor Syndrome	Frontal bossing, Tented upper lip vermilion, Ventricular septal defect, Anteverted nares, Brachyc...	OMIM:619762
Non-Syndromic Posterior Hypospadias	Omphalocele, Congenital diaphragmatic hernia, Abnormality of the endocrine system, Cryptorchidism...	ORPHA:95706
Muscular Dystrophy, Congenital, 1B	Respiratory failure	OMIM:604801
Coenzyme Q10 Deficiency, Primary, 5	Left ventricular hypertrophy, Secondary microcephaly, Decreased level of coenzyme Q10 in skeletal...	OMIM:614654
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Renal cyst, High palate, Conductive hearing impairment, Pre...	OMIM:102500
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Multicystic kidney dysplasia, Prominent na...	ORPHA:85201
Cerebrofacioarticular Syndrome	Irregular dentition, Cerebellar vermis hypoplasia, Hypospadias, Micrognathia, Hypoplasia of the m...	ORPHA:314679
Alazami Syndrome	Wide nose, Depressed nasal bridge, Microcephaly, Wide nasal bridge, Wide mouth, Retractile testis...	OMIM:615071
C Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Biparietal narrowing, Low-set, poster...	ORPHA:1308
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Glandular hypospadias, High palate, Thickened helices, Hypospadias, Low-set ears, Narrow mouth, T...	OMIM:604314
7Q11.23 Microduplication Syndrome	Short lingual frenulum, Congenital diaphragmatic hernia, Micrognathia, Simplified gyral pattern, ...	ORPHA:96121
Aneurysm-Osteoarthritis Syndrome	High palate, Abdominal aortic aneurysm, Bifid uvula, Arterial tortuosity, Patent ductus arteriosu...	ORPHA:284984
Renal Hypodysplasia/Aplasia 3	Renal dysplasia, Multicystic kidney dysplasia, Renal agenesis, Horseshoe kidney, Vesicoureteral r...	OMIM:617805
Vacterl With Hydrocephalus	Inguinal hernia, Anophthalmia, Microtia, third degree, Renal agenesis, Spina bifida, Micrognathia...	ORPHA:3412
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Dextrocardia, Hydrocephalus, Isomerism, Urethral atresia, Transposition of the great arteries, At...	OMIM:314390
Acromicric Dysplasia	Anteverted nares, Narrow mouth, Deep philtrum, Thick lower lip vermilion, Bulbous nose, Long phil...	OMIM:102370
Harrod Syndrome	Multicystic kidney dysplasia, Hypospadias, Microcephaly, Long nose, Cryptorchidism, Dental malocc...	ORPHA:2115
Braddock-Carey Syndrome 2	Microcephaly, Bulbous nose, Pierre-Robin sequence, Cleft palate, Wide mouth, Atresia of the exter...	OMIM:619981
Schuurs-Hoeijmakers Syndrome	Thin upper lip vermilion, Bicuspid aortic valve, Diastema, Cryptorchidism, Patent ductus arterios...	OMIM:615009
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Polyendocrine-Polyneuropathy Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Decrease...	ORPHA:453533
Bare Lymphocyte Syndrome, Type I	Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis	OMIM:604571
Vacterl Association With Hydrocephalus	Respiratory failure, Stillbirth, Respiratory insufficiency	OMIM:276950
Nephronophthisis 14	Situs inversus totalis, Cerebellar vermis hypoplasia, Polycystic kidney dysplasia, Nephronophthisis	OMIM:614844
Apparent Mineralocorticoid Excess	Renal insufficiency, Abnormal urine sodium concentration, Nephrocalcinosis, Stroke, Renal sodium ...	ORPHA:320
Noonan Syndrome 4	Ureteral duplication, Ventricular septal defect, Depressed nasal bridge, Thickened helices, Poste...	OMIM:610733
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Chorioretinal co...	OMIM:613702
Autosomal Dominant Coarctation Of Aorta	Aortic arch aneurysm, Ventricular septal defect, Patent ductus arteriosus, Abnormal aortic arch m...	ORPHA:1455
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Anterior pituitary hyp...	ORPHA:67045
Immunodeficiency 42	Splenomegaly, Hepatomegaly, Hypoplasia of the thymus, Recurrent aphthous stomatitis	OMIM:616622
Skin Creases, Congenital Symmetric Circumferential, 1	Depressed nasal bridge, Posteriorly rotated ears, Micrognathia, Microcephaly, Narrow mouth, Brach...	OMIM:156610
Developmental And Epileptic Encephalopathy 89	Microretrognathia, Thin upper lip vermilion, Omphalocele, Anteverted nares, Depressed nasal bridg...	OMIM:619124
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Absent septum pellucidum, Sclerocornea, Microcephaly, Hydrocephalus, Cleft palate, Colp...	OMIM:309801
Ververi-Brady Syndrome	Thin upper lip vermilion, Wide nose, Microcephaly, Prominent nose, Broad nasal tip, Bulbous nose,...	OMIM:617982
Chilton-Okur-Chung Neurodevelopmental Syndrome	Communicating hydrocephalus, Smooth philtrum, Thin upper lip vermilion, Septo-optic dysplasia, Ma...	OMIM:619841
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Monosomy 9P	Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Anotia, High palate, Hernia, Agenes...	ORPHA:261112
Microphthalmia, Isolated, With Coloboma 9	Macular coloboma, Sclerocornea, Microcornea, Long philtrum, Microphthalmia, Ocular anterior segme...	OMIM:615145
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Trigonocephaly-Short Stature-Developmental Delay Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Ventricular septal defect, Wide nasal bridge,...	ORPHA:3369
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bicuspid aortic valve, Downturned corners of mouth, Oligodontia, High palate, Atrial septal defec...	ORPHA:453499
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Mandibular prognathia, Thin upper lip vermilion, Cataract, Corneal opacity, Chorioretinal dysplas...	OMIM:152950
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ...	OMIM:245400
Cutis Laxa, Autosomal Recessive, Type Iia	Frontal bossing, Midface retrusion, Inguinal hernia, Anteverted nares, Lipodystrophy, Microcephal...	OMIM:219200
Cohen Syndrome	Chorioretinal dystrophy, Macrodontia, Aplasia/Hypoplasia of the tongue, Abnormality of the dentit...	ORPHA:193
Fraser Syndrome 2	Wide nose, Renal agenesis, Unilateral renal agenesis, Underdeveloped nasal alae, Renal hypoplasia...	OMIM:617666
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features	Microretrognathia, Frontal bossing, Abnormal pinna morphology, Abnormal cortical gyration, Hyposp...	OMIM:177980
Hunter-Mcalpine Craniosynostosis Syndrome	Downturned corners of mouth, Craniosynostosis, Narrow mouth	OMIM:601379
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Gaucher Disease, Type Ii	Hepatomegaly, Splenomegaly, Trismus, Thrombocytopenia, Cerebral atrophy, Anemia, Double aortic arch	OMIM:230900
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Microretrognathia, Spinal muscular atrophy, Secundum atrial septal defect, Patent ductus arterios...	OMIM:616866
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Lymphopenia, Hypoplasia of the thymus	OMIM:200900
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tented upper lip vermilion, Cerebellar vermis hypoplasia, Micrognathia, Ren...	OMIM:618460
Schilbach-Rott Syndrome	Posteriorly rotated ears, Hypospadias, Microcephaly, Micrognathia, Prominent nose, Long nose, Sub...	OMIM:164220
Nablus Mask-Like Facial Syndrome	Hypoplasia of the maxilla, High palate, Small earlobe, Micropenis, Anteverted nares, Depressed na...	OMIM:608156
Absence Of The Pulmonary Artery	Abnormal coronary artery morphology, Abnormal hemidiaphragm morphology, Cardiomegaly, Patent duct...	ORPHA:980
Cln3 Disease	Vacuolated lymphocytes, Increased circulating androgen concentration, Generalized cerebral atroph...	ORPHA:228346
Kabuki Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Orofacial cleft, Protruding ear, High palat...	ORPHA:2322
Cervical Ribs, Sprengel Anomaly, Anal Atresia, And Urethral Obstruction	Omphalocele, Autoimmune thrombocytopenia, Renal hypoplasia, Hypertrophy of the urinary bladder, U...	OMIM:601389
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome	Cerebral calcification, Depressed nasal bridge, Decreased proportion of CD8-positive T cells, Hyp...	OMIM:617241
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Chorioretinal colobom...	ORPHA:231736
Ohdo Syndrome, X-Linked	Micrognathia, Prominent nose, High palate, Widely spaced teeth, Microdontia, Micropenis, Depresse...	OMIM:300895
Crisponi/Cold-Induced Sweating Syndrome 1	Wide nose, Anteverted nares, Facial palsy, Depressed nasal bridge, Micrognathia, Carious teeth, N...	OMIM:272430
Frank-Ter Haar Syndrome	Delayed eruption of teeth, Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Campto...	ORPHA:137834
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Micrognathia, Brachycephaly, Tubulointerstitial nephritis, Widely s...	ORPHA:459061
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Mitochondrial Complex I Deficiency, Nuclear Type 6	Left ventricular hypertrophy, Skeletal muscle atrophy, Hypertrophic cardiomyopathy	OMIM:618228
Congenitally Corrected Transposition Of The Great Arteries	Atrial situs ambiguous, Abnormal left ventricular outflow tract morphology, Abnormal tricuspid va...	ORPHA:216694
Branchio-Oculo-Facial Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Abnormal pinna morphology, Renal...	ORPHA:1297
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Luo-Schoch-Yamamoto Syndrome	Wide nose, Anteverted nares, Depressed nasal bridge, Abnormal pinna morphology, Wide mouth, Widel...	OMIM:619460
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
20Q13.33 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Dilation of Virchow-Robin spaces, Facial hypotonia, Hypospadia...	ORPHA:261311
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Pulmonary Hypertension, Primary, 1	Pulmonary arterial medial hypertrophy, Pulmonary artery vasoconstriction, Arterial intimal fibros...	OMIM:178600
Nanophthalmos 2	Microphthalmia	OMIM:609549
Genitopalatocardiac Syndrome	Multicystic kidney dysplasia, Hypospadias, Congenital diaphragmatic hernia, Micrognathia, Microce...	ORPHA:2075
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Optic disc coloboma, Increased axial length of the globe, Microcornea, Shallow anter...	OMIM:602499
Orofaciodigital Syndrome I	Porencephalic cyst, Lobulated tongue, High palate, Agenesis of corpus callosum, Microretrognathia...	OMIM:311200
Prune Belly Syndrome	Multicystic kidney dysplasia, Recurrent urinary tract infections, Ventricular septal defect, Rena...	ORPHA:2970
Hypertelorism, Preauricular Sinus, Punctal Pits, And Deafness	Nasolacrimal duct obstruction	OMIM:614187
Koolen-De Vries Syndrome	Bicuspid aortic valve, Anteverted ears, High palate, Widely spaced teeth, Atrial septal defect, V...	OMIM:610443
Basal Cell Nevus Syndrome 1	Mandibular prognathia, Vertebral fusion, Odontogenic keratocysts of the jaw, Cataract, Ovarian fi...	OMIM:109400
Cockayne Syndrome Type 1	Mandibular prognathia, Hepatomegaly, Absent brainstem auditory responses, Anophthalmia, Foot join...	ORPHA:90321
Pierpont Syndrome	Smooth philtrum, Microcephaly, Cryptorchidism, Microcornea, Prominent median palatal raphe, Thin ...	OMIM:602342
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Ureteral duplication, Cardiomegaly, Increased muscle lipid content, Knee flexion contracture, Hig...	OMIM:608836
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Patent ductus arteriosus, Hypoplastic left heart, Narrow mouth, Microglossia	ORPHA:1972
Schwartz-Jampel Syndrome, Type 1	Pursed lips, Skeletal muscle atrophy, Hip contracture, Inguinal hernia, Shoulder flexion contract...	OMIM:255800
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Hepatomegaly, Hypospadias, Abnormal pulmonary valve morphology, Camptodactyly of finger, Microcep...	ORPHA:1194
Trichorhinophalangeal Syndrome, Type Ii	Mandibular prognathia, Bicuspid aortic valve, Cerebral arteriovenous malformation, Micrognathia, ...	OMIM:150230
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Ssr4-Cdg	Abnormality of upper lip vermillion, Absent septum pellucidum, Microcephaly, Patent ductus arteri...	ORPHA:370927
Intellectual Developmental Disorder With Speech Delay, Dysmorphic Facies, And T-Cell Abnormalities	Thin upper lip vermilion, Abnormally low T cell receptor excision circle level, Eosinophilia, Pro...	OMIM:618092
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough	ORPHA:2314
Renal Caliceal Diverticuli-Deafness Syndrome	Hydroureter, Abnormality of the kidney, Abnormality of the upper urinary tract, Sensorineural hea...	ORPHA:2838
Fraser Syndrome	Hypoplasia of penis, Anophthalmia, Dental crowding, Cleft ala nasi, Orofacial cleft, Urethral atr...	ORPHA:2052
Syndromic Diarrhea	Hepatomegaly, Lymphopenia, Inguinal hernia, Ventricular septal defect, Bicuspid aortic valve, Inc...	ORPHA:84064
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Stroke, Left ventricular hypert...	ORPHA:85451
Oculodentodigital Dysplasia, Autosomal Recessive	Delayed eruption of teeth, Frontal bossing, Dental crowding, Micrognathia, Hypoplasia of the maxi...	OMIM:257850
Nasopalpebral Lipoma-Coloboma Syndrome	Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Sparse eyebrow, Upper eyelid coloboma, ...	OMIM:167730
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis	ORPHA:71277
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Myoectodermal Gonadal Dysgenesis Syndrome	Accessory spleen, Omphalocele, Posteriorly rotated ears, Diastasis recti, Elevated circulating lu...	OMIM:618419
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Basal ganglia calcification, Micropenis, Hypothyroidism, Hepatomegaly, He...	OMIM:619487
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Bronchitis, Abnormal respiratory system physiology,...	ORPHA:449280
Aortic Arch Interruption	Bicuspid aortic valve, Ventricular septal defect, Patent ductus arteriosus, Aortic valve atresia,...	ORPHA:2299
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Thin upper lip vermilion, Skeletal muscle atrophy, Slender nose, Micrognathia, Microcephaly, Cryp...	OMIM:615419
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Increased mean platelet volume, Thrombocytopenia, Patent ductus arteriosus, Low-set ears, Increas...	OMIM:300048
Laurence-Moon Syndrome	Cryptorchidism, Cataract, Type II diabetes mellitus, Iris coloboma	ORPHA:2377
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Flat occiput, Dental crowding, Micrognathia, High palate, Short philtrum, Microdontia, Micropenis...	ORPHA:251028
Triple A Syndrome	Anterior hypopituitarism, Adrenal insufficiency, Iris coloboma, Microcephaly	ORPHA:869
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Hearing impairment, Cryptorchidism, Patent ductus arteriosus, Hydronephro...	OMIM:620327
15Q Overgrowth Syndrome	Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta...	ORPHA:314585
Acrocephalopolydactylous Dysplasia	Omphalocele, Hepatomegaly, Abnormal pinna morphology, Pancreatic fibrosis, Craniosynostosis, Oxyc...	OMIM:200995
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Mogs-Cdg	Hepatomegaly, Wide nose, Absent brainstem auditory responses, Cardiomegaly, Thrombocytopenia, Sen...	ORPHA:79330
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Igg4-Related Aortitis	Thoracic aortic aneurysm, Hypereosinophilia, Abnormal aortic arch morphology, Ascending tubular a...	ORPHA:449400
Peroxisome Biogenesis Disorder 1A (Zellweger)	Flat occiput, Adrenal hypoplasia, Micrognathia, High, narrow palate, Aminoaciduria, High palate, ...	OMIM:214100
Blepharophimosis-Impaired Intellectual Development Syndrome	Hypoplasia of the pons, Flexion contracture, Short philtrum, Widely spaced teeth, Microdontia, Ex...	OMIM:619293
Autosomal Dominant Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Hepatic cysts, Decreased glomerular filt...	ORPHA:730
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Micrognathia, Flexion contracture, Knee flexion contracture, Downturned corners of mouth, Widely ...	OMIM:300868
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Dental crowding, Micrognathia, Cleft hard palate, Nephrocalcinosis, Conductive hearing impairment...	OMIM:300990
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Epispadias, Bifid uvula, Abnormal penis morphol...	ORPHA:2588
Apert Syndrome	Mandibular prognathia, Brachycephaly, Choanal stenosis, Agenesis of corpus callosum, Bifid uvula,...	OMIM:101200
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Microcephaly, Dysplastic corpus callosum, Simplified g...	OMIM:619179
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia	Recurrent respiratory infections, Death in infancy, Intraalveolar phospholipid accumulation, Resp...	OMIM:618042
Arthrogryposis, Distal, Type 1A	Hip contracture, Narrow mouth, Trismus, Sensorineural hearing impairment, Elbow flexion contractu...	OMIM:108120
Polycystic Kidney Disease 5	Stage 5 chronic kidney disease, Hepatosplenomegaly, Polycystic kidney dysplasia, Reduced renal co...	OMIM:617610
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Coloboma, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Micrognat...	ORPHA:363528
Congenital Primary Megaureter	Abnormal penis morphology, Recurrent urinary tract infections, Abnormality of the upper urinary t...	ORPHA:617
Laterality Defects, Autosomal Dominant	Situs inversus totalis, Heterotaxy, Asplenia	OMIM:601086
Noonan Syndrome 10	Mitral stenosis, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Mitral valv...	OMIM:616564
Tetraamelia With Ectodermal Dysplasia And Lacrimal Duct Abnormalities	Upslanted palpebral fissure, Absent lacrimal punctum, Hypoplastic lacrimal duct, Cryptorchidism	OMIM:273390
Hepatorenocardiac Degenerative Fibrosis	Hypersplenism, Renal cyst, Hepatosplenomegaly, Tubular luminal dilatation, Renal interstitial fib...	OMIM:619902
Lowry-Maclean Syndrome	Congenital diaphragmatic hernia, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Bi...	ORPHA:2409
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome	Skeletal muscle atrophy, Lipodystrophy, Cryptorchidism, Flexion contracture, Wide nasal bridge, A...	ORPHA:75496
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Crisponi Syndrome	Wide nose, Anteverted nares, Camptodactyly of finger, Micrognathia, Narrow mouth, Flexion contrac...	ORPHA:1545
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Flat occiput, Ventricular septal defect, Depressed na...	ORPHA:912
Breath-Holding Spells	Cyanosis	OMIM:607578
White-Sutton Syndrome	Joint laxity, Mandibular prognathia, Optic nerve hypoplasia, Micrognathia, Microcephaly, Cleft pa...	OMIM:616364
Loeys-Dietz Syndrome 3	Tortuous cerebral arteries, Bicuspid aortic valve, High palate, Atrial septal defect, Abdominal a...	OMIM:613795
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe	Right aortic arch, Coarctation of aorta	OMIM:140850
Isolated Polycystic Liver Disease	Hepatomegaly, Multiple renal cysts, Vascular dilatation	ORPHA:2924
Hernández-Aguirre Negrete Syndrome	Low-set, posteriorly rotated ears, Bulbous nose, Deep philtrum, Wide mouth, Delayed puberty	ORPHA:2139
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Fetal pyelectasis, Nephrocalci...	ORPHA:264450
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome	Mandibular prognathia, Anteverted ears, Protruding ear, Atrial septal defect, Long philtrum, Micr...	ORPHA:459070
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Brachycephaly, Oligodontia, Depressed nasal bridge, Pericardial ...	ORPHA:1272
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Iris coloboma	OMIM:615147
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Hepatomegaly, Anteverted nares, Micrognathia, Dysplastic corpus callosum, Wide nasal bridge, Micr...	OMIM:618810
Au-Kline Syndrome	Downturned corners of mouth, Oligodontia, High palate, Vesicoureteral reflux, Bifid uvula, Sagitt...	OMIM:616580
Neurodevelopmental Disorder With Spasticity And Poor Growth	Tented upper lip vermilion, Flat occiput, Anteverted nares, Reduced cerebral white matter volume,...	OMIM:618076
Pituitary Adenoma 1, Multiple Types	Elevated circulating growth hormone concentration, Pituitary adenoma, Increased circulating insul...	OMIM:102200
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Neoplasm of the lung, Stridor, Cough	ORPHA:142
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Respiratory insufficiency due to muscle weakness, Respiratory failure, Recurrent aspiration pneum...	ORPHA:2590
Branchiootorenal Syndrome 1	Branchial cyst, High palate, Conductive hearing impairment, Vesicoureteral reflux, Microdontia, B...	OMIM:113650
X-Linked Intellectual Disability, Siderius Type	Cryptorchidism, Decreased testicular size, Orofacial cleft, Cleft upper lip	ORPHA:85287
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Hypoplasia of penis, Diabetes mellitus, Hypospadias, Dextrocardia, Abn...	ORPHA:2315
Toe Syndactyly, Telecanthus, And Anogenital And Renal Malformations	Thin upper lip vermilion, Wide nose, Hypoplasia of the bladder, Bicuspid aortic valve, Depressed ...	OMIM:300707
Kaufman Oculocerebrofacial Syndrome	Thin upper lip vermilion, Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Mi...	OMIM:244450
Arthrogryposis, Distal, Type 2B1	Mandibular prognathia, Camptodactyly of finger, Micrognathia, Wide nasal bridge, Prominent nasola...	OMIM:601680
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia	Bilateral cryptorchidism, Optic disc coloboma, High palate, Iris coloboma, Retrognathia, Agenesis...	OMIM:300472
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Death in infancy, Cataract, Remnants of the hyaloid vascular system, Optic nerve h...	OMIM:614643
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation	Omphalocele, Ventricular septal defect, Diastasis recti, Large placenta, Abnormal heart morpholog...	ORPHA:254534
Aarskog-Scott Syndrome	Delayed eruption of teeth, Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition...	ORPHA:915
Mosaic Trisomy 8	Frontal bossing, Wide nose, Anteverted nares, Camptodactyly of finger, Abnormal pinna morphology,...	ORPHA:96061
Baraitser-Winter Cerebrofrontofacial Syndrome	Micrognathia, Prominent nose, Long nose, Subcortical cerebral atrophy, Pachygyria, Abnormality of...	ORPHA:2995
Tetrasomy 18P	Low-set, posteriorly rotated ears, Microcephaly, Thin vermilion border, Narrow mouth, Short nose,...	ORPHA:3307
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Omphalocele, Congenital diaphragmatic hernia	ORPHA:2141
Congenital Disorder Of Glycosylation, Type Id	Microcephaly, Flexion contracture, Cerebral atrophy, Bifid uvula, High palate, Arthrogryposis mul...	OMIM:601110
Hamamy Syndrome	Micrognathia, Microcytic anemia, Brachycephaly, High palate, Atrial septal defect, Hypoparathyroi...	OMIM:611174
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Immunodeficiency, Common Variable, 6	Hepatomegaly, Glomerulonephritis, Autoimmune thrombocytopenia, Stage 5 chronic kidney disease, Me...	OMIM:613496
Baller-Gerold Syndrome	Narrow nasal bridge, Frontal bossing, Prominent nasal bridge, Micrognathia, Abnormality of the ur...	ORPHA:1225
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Small hypothenar eminence, Wide nose, Hypoplasia of the musculature, Cardiomegaly, Thenar muscle ...	ORPHA:2463
Meckel Syndrome 13	Occipital encephalocele, Micrognathia, Flexion contracture, Cerebellar hypoplasia, Polycystic kid...	OMIM:617562
Oculoauriculovertebral Spectrum With Radial Defects	Maternal diabetes, Abnormality of the middle ear ossicles, Distal urethral duplication, Renal hyp...	ORPHA:2549
Carey-Fineman-Ziter Syndrome	Skeletal muscle atrophy, Cerebral calcification, Anteverted nares, Aplasia/Hypoplasia of the tong...	ORPHA:1358
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Lissenceph...	OMIM:614833
Tarp Syndrome	Extramedullary hematopoiesis, Micrognathia, Glossoptosis, Atrial septal defect, Small earlobe, Lo...	ORPHA:2886
Wolfram Syndrome 1	Sideroblastic anemia, Neurogenic bladder, Diabetes mellitus, Diabetes insipidus, Hydroureter, Meg...	OMIM:222300
X-Linked Centronuclear Myopathy	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	ORPHA:596
Otopalatodigital Syndrome, Type I	Omphalocele, Frontal bossing, Selective tooth agenesis, Absent frontal sinuses, Wide nasal bridge...	OMIM:311300
Acromicric Dysplasia	Anteverted nares, Narrow mouth, Bulbous nose, Thick lower lip vermilion, Long philtrum, Short nose	ORPHA:969
Nasolacrimal Duct Cyst	Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of...	ORPHA:141083
Multiple Pterygium-Malignant Hyperthermia Syndrome	Skeletal muscle atrophy, Congenital muscular torticollis, Downturned corners of mouth, Conductive...	ORPHA:2215
Combined Oxidative Phosphorylation Deficiency 33	Hepatomegaly, Cardiomegaly, Sensorineural hearing impairment, Cardiomyopathy, Myopathy, Nephrotic...	OMIM:617713
Beare-Stevenson Cutis Gyrata Syndrome	Flat occiput, High palate, Choanal stenosis, Agenesis of corpus callosum, Bifid uvula, Cloverleaf...	OMIM:123790
Lateral Meningocele Syndrome	Decreased muscle mass, Bicuspid aortic valve, Dental crowding, Micrognathia, High palate, Conduct...	OMIM:130720
2Q37 Microdeletion Syndrome	Frontal bossing, Multicystic kidney dysplasia, Anteverted nares, Depressed nasal bridge, Congenit...	ORPHA:1001
Zimmermann-Laband Syndrome 1	Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Spina bifida occ...	OMIM:135500
Omphalocele, X-Linked	Omphalocele	OMIM:310980
Omphalocele, Autosomal	Omphalocele	OMIM:164750
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Buphthalmos, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:212550
Joubert Syndrome 35	Multicystic kidney dysplasia, Cerebellar vermis hypoplasia, Depressed nasal bridge, Anteverted na...	OMIM:618161
Catel-Manzke Syndrome	Inguinal hernia, Overriding aorta, Ventricular septal defect, Dextrocardia, Narrow nose, Cleft up...	OMIM:616145
Biemond Syndrome Type 2	Hypogonadotropic hypogonadism, Hydrocephalus, Coloboma, Hypogonadism, Delayed puberty, Microphtha...	ORPHA:141333
Bartsocas-Papas Syndrome 2	Corneal opacity, Accessory oral frenulum, Micrognathia, Wide anterior fontanel, Antecubital ptery...	OMIM:619339
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Micrognathia, Microcephaly, Cryptorchidism, Deep philtrum, Optic disc co...	ORPHA:251014
Hypogonadotropic Hypogonadism 6 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft lip, Cryptorchidism, High palate, Small pituitary gland, Del...	OMIM:612702
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities	Thin upper lip vermilion, Hepatomegaly, Macrodontia, Anteverted nares, Prominent nasal bridge, Mi...	OMIM:618443
Amyotrophy, Hereditary Neuralgic	Skeletal muscle atrophy, Depressed nasal bridge, Narrow mouth, Cleft palate, Low-set ears, Long n...	OMIM:162100
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Decreased serum insulin...	OMIM:620303
Developmental Delay, Language Impairment, And Ocular Abnormalities	Inguinal hernia, Microcephaly, Myelomeningocele, Pulmonic stenosis, Contracture of the proximal i...	OMIM:620141
Boomerang Dysplasia	Omphalocele, Cryptorchidism, Aplasia/Hypoplasia of the abdominal wall musculature, Decreased resp...	ORPHA:1263
Oculocerebrocutaneous Syndrome	Corneal opacity, Cryptorchidism, Hydrocephalus, Orofacial cleft, Aplasia/Hypoplasia of the corpus...	ORPHA:1647
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Zttk Syndrome	Hypoplasia of the maxilla, Flexion contracture, Protruding ear, Downturned corners of mouth, High...	OMIM:617140
19P13.13 Microdeletion Syndrome	Thin upper lip vermilion, Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge, Dolic...	ORPHA:357001
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Phenobarbital Embryopathy	Mandibular prognathia, Malar flattening, Unilateral cleft lip, Microcephaly	ORPHA:1919
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis	Decreased response to growth hormone stimulation test, Abnormality of the dentition, Congenital h...	OMIM:601427
Frontofacionasal Dysplasia	Cataract, Cleft upper lip, Orofacial cleft, Microcornea, Bifid uvula, Cranium bifidum occultum, M...	OMIM:229400
Nephronophthisis 20	Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Nephronophthisis, Vesicoureteral...	OMIM:617271
Cardiomyopathy, Dilated, 1V	Left ventricular hypertrophy, Dilated cardiomyopathy	OMIM:613697
Ruvalcaba Syndrome	Inguinal hernia, Dental crowding, Microcephaly, Cryptorchidism, Delayed puberty, Abnormal localiz...	ORPHA:3121
Bardet-Biedl Syndrome 4	Abnormality of the kidney, Abnormality of the dentition, Cryptorchidism, Renal cyst, Hypogonadism	OMIM:615982
Say Syndrome	Microcephaly, Micrognathia, Proximal renal tubular acidosis, Cleft palate, Macrotia, Cystic renal...	OMIM:181180
Exstrophy-Epispadias Complex	Urinary incontinence, Epispadias, Bladder duplication, Absent penis, Vesicoureteral reflux, Bladd...	ORPHA:322
Renal Dysplasia, Cystic, Susceptibility To	Renal insufficiency, Cystic renal dysplasia, Vesicoureteral reflux, Hyperechogenic kidneys, Renal...	OMIM:601331
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Mandibular prognathia, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Deep ...	ORPHA:96334
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Anteverted nares, Depressed nasal bridge, Deep philtrum, Sensorineural hearing impairment, Wide n...	ORPHA:1825
Osteopetrosis With Renal Tubular Acidosis	Cerebral calcification, Micrognathia, Basal ganglia calcification, Brachycephaly, Leukopenia, Hig...	ORPHA:2785
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Secundum atrial septal defect, Aqueductal stenosis, Primum atrial ...	OMIM:619534
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Ankyloblepharon Filiforme Adnatum And Cleft Palate	Cleft palate, Cleft upper lip	OMIM:106250
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Pancytopenia, Hypoplasia of penis, Renal insufficiency, Abnormality of the dentition, Micrognathi...	ORPHA:85321
Mandibuloacral Dysplasia Progeroid Syndrome	Micrognathia, Flexion contracture, Brachycephaly, High palate, Short philtrum, Patent foramen ova...	OMIM:619127
Developmental Delay, Hypotonia, Musculoskeletal Defects, And Behavioral Abnormalities	Mandibular prognathia, Thin upper lip vermilion, Microcephaly, Cryptorchidism, Wide nasal bridge,...	OMIM:619595
Gaucher Disease, Perinatal Lethal	Hepatomegaly, Everted upper lip vermilion, Anteverted nares, Depressed nasal bridge, Cardiomegaly...	OMIM:608013
Jacobsen Syndrome	Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalus, Flexion contracture, Annular pancreas,...	OMIM:147791
Congenital Disorder Of Glycosylation, Type Iy	Hypospadias, Microcephaly, Micrognathia, Wide mouth, Widely spaced teeth, Hypoplasia of the corpu...	OMIM:300934
Hartsfield Syndrome	Median cleft lip, Diabetes insipidus, Craniosynostosis, Alobar holoprosencephaly, Cleft upper lip...	OMIM:615465
Synaptic Congenital Myasthenic Syndromes	Mandibular prognathia, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakn...	ORPHA:98915
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Opacification of the corneal stroma, Microphthalmia, Spina bifida occulta, I...	OMIM:169550
Chromosome 5Q12 Deletion Syndrome	Frontal bossing, Ventricular septal defect, Posteriorly rotated ears, Micrognathia, Prominent nos...	OMIM:615668
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Mandibular prognathia, Recurrent urinary tract infections, Ventricular septal defect, Depressed n...	OMIM:619103
Monosomy 9Q22.3	Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Nephroblastoma, R...	ORPHA:77301
Lymphangioleiomyomatosis	Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest...	ORPHA:538
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Brachycephaly, Contracture of the proximal...	OMIM:618223
Adams-Oliver Syndrome 2	Micrognathia, Microcephaly, Hydrocephalus, Cerebral atrophy, Developmental cataract, Lateral vent...	OMIM:614219
Lissencephaly 8	Occipital encephalocele, Cataract, Microcephaly, Hypoplasia of the corpus callosum, Microphthalmi...	OMIM:617255
Coffin-Siris Syndrome 7	Bicuspid aortic valve, Downturned corners of mouth, Short philtrum, Microdontia, Thick nasal alae...	OMIM:618027
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Tented upper lip vermilion, Micrognathia, High, narrow palate, Brachycephaly, Renal cyst, Downtur...	ORPHA:369837
Cardiomyopathy, Familial Hypertrophic, 8	Left atrial enlargement, Endocardial fibrosis, Left ventricular hypertrophy, Restrictive cardiomy...	OMIM:608751
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Enlargement of paro...	ORPHA:79078
9Q21.13 Microdeletion Syndrome	Wide nasal ridge, Craniosynostosis, Cryptorchidism, Abnormal tongue morphology, Aplasia/Hypoplasi...	ORPHA:531151
Orofacial Cleft 10	Unilateral cleft palate, Unilateral cleft lip	OMIM:613705
Smith-Magenis Syndrome	Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Joint stiff...	ORPHA:819
Cardiomyopathy, Familial Hypertrophic, 14	Left ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:613251
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Multicystic kidney dysplasia, Anteverted nares, Underdeveloped...	ORPHA:2031
Microphthalmia, Syndromic 6	Anophthalmia, Uplifted earlobe, Micrognathia, Adrenal hypoplasia, Brachycephaly, Protruding ear, ...	OMIM:607932
Prune Belly Syndrome	Hydroureter, Cryptorchidism, Patent ductus arteriosus, Aplasia of the abdominal wall musculature,...	OMIM:100100
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Neonatal respiratory distress, Pulmonary hypoplasia, Respiratory failure	OMIM:616867
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Bifid uvula, Median cleft lip, High palate, Iris coloboma	OMIM:155145
Lambert Syndrome	Wide mouth, Malar flattening, Inguinal hernia, Hypospadias	OMIM:245550
Hyperekplexia 4	Respiratory failure	OMIM:618011
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bicuspid aortic valve, High, narrow palate, Protruding ear, Downturned corners of mouth, Atrial s...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bicuspid aortic valve, High, narrow palate, Protruding ear, Downturned corners of mouth, Atrial s...	ORPHA:352665
Codas Syndrome	Delayed eruption of teeth, Omphalocele, Ventricular septal defect, Anteverted nares, Depressed na...	OMIM:600373
Ayme-Gripp Syndrome	Mandibular prognathia, Brachycephaly, Depressed nasal bridge, Wide nasal bridge, Microtia, Low-se...	OMIM:601088
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Mandibular prognathia, Thin upper lip vermilion, Frontal bossing, Microcephaly, Scaphocephaly, Wi...	OMIM:619989
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes	Thin upper lip vermilion, Abnormal pinna morphology, Pericardial effusion, Cryptorchidism, Wide n...	OMIM:614684
Acquired Aneurysmal Subarachnoid Hemorrhage	Cerebral hemorrhage, Hydrocephalus, Leukocytosis, Ischemic stroke, Left ventricular hypertrophy, ...	ORPHA:90065
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia, Abnormality of the dentition	OMIM:251700
Orofacial Cleft 5	Cleft palate, Cleft upper lip	OMIM:608874
Orofacial Cleft 6, Susceptibility To	Cleft palate, Cleft upper lip	OMIM:608864
Orofacial Cleft 1	Cleft palate, Cleft upper lip	OMIM:119530
Oculomaxillofacial Dysostosis	Median cleft lip, Corneal opacity, Camptodactyly of finger, Abnormality of the dentition, Microgn...	ORPHA:1794
Nipah Virus Disease	Respiratory distress, Recurrent pharyngitis, Cough	ORPHA:99825
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract, Microcephaly	OMIM:278780
Distal Monosomy 7Q36	Hypoplasia of penis, Micrognathia, Microcephaly, Cryptorchidism, Non-midline cleft lip, Bulbous n...	ORPHA:1636
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers, Narrow m...	ORPHA:324581
Aniridia 2	Aniridia, Iris coloboma, Cataract, Lens subluxation	OMIM:617141
Reticular Dysgenesis	Leukopenia, Congenital agranulocytosis, Lymphopenia, Hypoplasia of the thymus	OMIM:267500
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Microphthalmia, Posterior embryotoxon	OMIM:609218
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Leukocoria, U...	OMIM:221900
Temtamy Preaxial Brachydactyly Syndrome	Abnormal spaced incisors, Abnormality of the dentition, Abnormality of canine, Micrognathia, Hypo...	ORPHA:363417
Trichohepatoenteric Syndrome 1	Depressed nasal ridge, Bifid uvula, Hepatomegaly, Anteverted nares, Hypospadias, Increased mean p...	OMIM:222470
Congenital Varicella Syndrome	Microphthalmia, Cataract, Cerebral cortical atrophy, Microcephaly	ORPHA:291
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Joint laxity, Megalencephaly, Hydrocephalus, Microphthalmia, Cavum septum pellucidum, Polymicrogy...	OMIM:602501
Malan Syndrome	Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm...	OMIM:614753
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5	Vascular dilatation, Chronic kidney disease, Renal cyst, Focal segmental glomerulosclerosis, Neut...	OMIM:617056
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase...	ORPHA:90060
Lateral Meningocele Syndrome	Craniofacial hyperostosis, Dental crowding, Micrognathia, High, narrow palate, Cryptorchidism, Me...	ORPHA:2789
Microphthalmia With Limb Anomalies	Low-set, posteriorly rotated ears, Frontal bossing, Macrodontia, Hypoplasia of the premaxilla, De...	ORPHA:1106
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Tented upper lip vermilion, Cataract, Microcephaly, Lateral ventricle dilatation, High palate, Sh...	OMIM:614105
Congenital Heart Defects, Hamartomas Of Tongue, And Polysyndactyly	Coarctation of aorta, Complete atrioventricular canal defect, Hamartoma of tongue, Subvalvular ao...	OMIM:217085
Keratoconus Posticus Circumscriptus	Keratoconus, Limited elbow extension and supination, Cleft upper lip, Cleft palate, Central poste...	OMIM:244600
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Recurrent acute respiratory tract infection, Paradoxical respiration, Respiratory distress	OMIM:620011
Coffin-Siris Syndrome 5	Thin upper lip vermilion, Wide nose, Depressed nasal bridge, Microcephaly, Thick lower lip vermil...	OMIM:616938
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies	Mandibular prognathia, Thin upper lip vermilion, Death in infancy, Tented upper lip vermilion, Di...	OMIM:618622
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Hepatomegaly, Prominent nasal bridge, Anisocytosis, Micrognathia, Microcephaly, Dysplastic corpus...	OMIM:604273
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Frontal bossing, Inguinal hernia, Supernumerary nipple, Microcephaly, Cryptorchidism, Arteria lus...	OMIM:618653
Transaldolase Deficiency	Hepatomegaly, Pancytopenia, Ventricular septal defect, Depressed nasal bridge, Splenomegaly, Deep...	OMIM:606003
Transketolase Deficiency	Hepatomegaly, Increased level of ribose in urine, Ventricular septal defect, Abnormal coronary ar...	ORPHA:488618
Ciliary Dyskinesia, Primary, 42	Pneumonia, Reduced forced vital capacity, Chronic pulmonary obstruction, Bronchiectasis, Respirat...	OMIM:618695
Chime Syndrome	Ventricular septal defect, Abnormal dental morphology, Abnormality of the kidney, Abnormality of ...	ORPHA:3474
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Renal insufficiency, Retinal arteriolar tortuosity, Renal cyst, Lacunar stroke, Hematuria, Dilata...	OMIM:611773
Congenital Laryngomalacia	Non-midline cleft lip, Cleft palate	ORPHA:2373
Ciliary Dyskinesia, Primary, 14	Situs inversus totalis, Heterotaxy, Chronic sinusitis, Polysplenia	OMIM:613807
Cutis Laxa, Autosomal Recessive, Type Iiia	Frontal bossing, Inguinal hernia, Narrow nasal ridge, Cryptorchidism, Brachycephaly, Distal amyot...	OMIM:219150
Orofaciodigital Syndrome Type 5	Median cleft lip, Abnormality of the philtrum, Cleft soft palate, Accessory oral frenulum, Microc...	ORPHA:2919
Intellectual Developmental Disorder, Autosomal Recessive 13	Cleft upper lip, Downturned corners of mouth, Abnormal cerebral white matter morphology, Short ph...	OMIM:613192
Chitayat Syndrome	Respiratory distress, Recurrent respiratory infections, Abnormal pulmonary interstitial morpholog...	OMIM:617180
Chromosome 1Q41-Q42 Deletion Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Supernumerary nipple, Cleft upper lip, Micr...	OMIM:612530
Arboleda-Tham Syndrome	Mandibular prognathia, Secundum atrial septal defect, Anteverted ears, Bilateral cryptorchidism, ...	OMIM:616268
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Micrognathia, Ectopic kidney, High, narrow palate, Brachycephaly...	OMIM:122470
Thauvin-Robinet-Faivre Syndrome	Renal dysplasia, Renal malrotation, Inguinal hernia, Transient neutropenia, Ventricular septal de...	OMIM:617107
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Loss of subcutaneous adipose tissue in limbs, Hepatomegaly, Diabetes mellitus, Dental crowding, L...	OMIM:615381
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Mandibular prognathia, Thick lower lip vermilion, Brachycephaly, Wide mouth, Thick upper lip verm...	OMIM:309545
Disorganization, Mouse, Homolog Of	Cleft palate, Cleft upper lip	OMIM:223200
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Delayed eruption of teeth, Macrodontia, High, narrow palate, Microcornea, Anterior synechiae of t...	ORPHA:3214
Phelan-Mcdermid Syndrome	Micrognathia, Protruding ear, High palate, Widely spaced teeth, Vesicoureteral reflux, Abnormal p...	OMIM:606232
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Hepatomegaly, Ketonuria, Dilated cardiomyopathy, Lacticaciduria, Left ventricular noncompaction, ...	OMIM:619167
Nanophthalmos	Microphthalmia, Abnormal choroid morphology	ORPHA:35612
Dyrk1A-Related Intellectual Disability Syndrome	Multiple joint contractures, Corneal opacity, Anterior pituitary hypoplasia, Microcephaly, Crypto...	ORPHA:464306
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Cataract, Micrognathia, Wide anterior fontanel, Cleft palate, Dow...	ORPHA:163649
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Respiratory failure	OMIM:613435
Growth Hormone Deficiency, Isolated Partial	Small pituitary gland, Decreased response to growth hormone stimulation test	OMIM:615925
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Mandibular prognathia, Thin upper lip vermilion, Tented upper lip vermilion, Cleft upper lip, Abn...	OMIM:239300
Joubert Syndrome 21	Encephalocele, Occipital encephalocele, Anophthalmia, Splenomegaly, Sensorineural hearing impairm...	OMIM:615636
Duane Retraction Syndrome	Central heterochromia, Optic disc hypoplasia, Micrognathia, Microcephaly, Abnormal pupil morpholo...	ORPHA:233
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Mandibular prognathia, Camptodactyly of finger, Lip pit, Microcephaly, Supernumerary nipple, Hypo...	ORPHA:1236
Jacobsen Syndrome	Pachygyria, Agenesis of corpus callosum, Broad columella, Low-set, posteriorly rotated ears, Mult...	ORPHA:2308
Peters Plus Syndrome	Ureteral duplication, Micrognathia, Bicuspid pulmonary valve, Brachycephaly, Abnormal pulmonary v...	ORPHA:709
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Renal cyst, Pancreatic hypoplasia...	OMIM:610199
Myhre Syndrome	Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Atrial septal defect, Pericardi...	OMIM:139210
3Q27.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Slender nose, Dental crowding, Thick corpus call...	ORPHA:397695
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Hydrocephalus, Leukoencephalopathy, Microphthalmia, Polymicrogy...	OMIM:615181
Congenital Anomalies Of Kidney And Urinary Tract 3	Multicystic kidney dysplasia, Ectopic kidney, Renal hypoplasia, Vesicoureteral reflux, Hydronephr...	OMIM:618270
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Hemothorax, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulm...	ORPHA:2038
Cardiofaciocutaneous Syndrome 1	Micrognathia, Deep philtrum, High palate, Atrial septal defect, Anteverted nares, Depressed nasal...	OMIM:115150
Malan Overgrowth Syndrome	Frontal bossing, Optic disc hypoplasia, Depressed nasal bridge, Scaphocephaly, Plagiocephaly, Hyp...	ORPHA:420179
Chromosome 15Q25 Deletion Syndrome	Macrocytic anemia, Tented upper lip vermilion, Ventricular septal defect, Dextrocardia, Congenita...	OMIM:614294
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Fibrochondrogenesis	Omphalocele, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Cleft palate, Pla...	ORPHA:2021
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Frontal bossing, Mixed hearing impairment, Anteverted nares, Depressed nasal bridge, Underdevelop...	OMIM:608624
Contractures-Developmental Delay-Pierre Robin Syndrome	Micrognathia, High, narrow palate, Cleft palate, Glossoptosis, Radioulnar synostosis, Abnormality...	ORPHA:436003
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Impaired lymphocyte transformation with phytohemagglutinin, Omphalocele, Autoimmune hemolytic ane...	OMIM:243150
Fabry Disease	Renal insufficiency, Transient ischemic attack, Proteinuria, Ventricular septal hypertrophy, Urin...	OMIM:301500
X-Linked Intellectual Disability, Hedera Type	Left ventricular hypertrophy, Hypoplasia of the corpus callosum, Hypomimic face	ORPHA:93952
Cutis Laxa, Autosomal Recessive, Type Iic	Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Bilateral cryptorchidism, Knee...	OMIM:617402
Duane-Radial Ray Syndrome	Abnormal nasopharynx morphology, Optic disc hypoplasia, Choanal stenosis, Vesicoureteral reflux, ...	OMIM:607323
Ablepharon Macrostomia Syndrome	Omphalocele, Hypoplasia of penis, Anteverted nares, Camptodactyly of finger, Depressed nasal brid...	ORPHA:920
Bartsocas-Papas Syndrome 1	Omphalocele, Inguinal hernia, Cleft upper lip, Hypoplasia of the maxilla, Micrognathia, Underdeve...	OMIM:263650
Tolchin-Le Caignec Syndrome	Diastasis recti, Micrognathia, Prominent nose, Precocious puberty, Sensorineural hearing impairme...	OMIM:618971
Developmental And Epileptic Encephalopathy 93	Hypoplasia of the corpus callosum, Iris coloboma, Cerebral atrophy, Microcephaly	OMIM:618012
15Q14 Microdeletion Syndrome	Inguinal hernia, Ventricular septal defect, Prominent nasal bridge, Abnormality of the dentition,...	ORPHA:261190
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type	Mandibular prognathia, Distal lower limb amyotrophy, Depressed nasal bridge, Abnormal pinna morph...	OMIM:300354
Lethal Congenital Contracture Syndrome 2	Skeletal muscle atrophy, Ventricular septal defect, Micrognathia, Dilated cardiomyopathy, Arthrog...	OMIM:607598
X-Linked Intellectual Disability, Pai Type	Inguinal hernia, Prominent nasal bridge, Cryptorchidism, Protruding ear, Hydrocele testis, Narrow...	ORPHA:85322
Dyssegmental Dysplasia, Silverman-Handmaker Type	Encephalocele, Posteriorly rotated ears, Micrognathia, Microcephaly, Cryptorchidism, Hydrocephalu...	ORPHA:1865
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Emphysema	OMIM:614100
Joubert Syndrome	Encephalocele, Hydrocephalus, Orofacial cleft, Aplasia/Hypoplasia of the corpus callosum, Abnorma...	ORPHA:475
16P13.11 Microdeletion Syndrome	Thin upper lip vermilion, Exaggerated cupid's bow, Camptodactyly of finger, Cleft upper lip, Micr...	ORPHA:261236
Aicardi Syndrome	Prominence of the premaxilla, Cataract, Block vertebrae, Spina bifida, Cleft upper lip, Microceph...	OMIM:304050
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Ureteral stenosis, Anteverted nares, Depressed nasal bridge, Microcephaly, Dolic...	ORPHA:2719
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Deep philtrum, High palate, Widely spaced teeth, Atrial septal defect, Thickened helices, Patent ...	OMIM:617506
Floating-Harbor Syndrome	Prominent nose, Glandular hypospadias, Downturned corners of mouth, Nephrocalcinosis, Short philt...	OMIM:136140
Cardiomyopathy, Familial Hypertrophic, 16	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Asymmetric septal hypertrophy	OMIM:613838
Non-Acquired Panhypopituitarism	Osteopenia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypopituitarism, Decre...	ORPHA:90695
Robinow Syndrome, Autosomal Dominant 2	Dental crowding, Micrognathia, Oligodontia, Conductive hearing impairment, Micropenis, Calvarial ...	OMIM:616331
X-Linked Intellectual Disability, Snyder Type	Mandibular prognathia, Decreased muscle mass, Dental crowding, Ectopic kidney, Brachycephaly, Hig...	ORPHA:3063
Unilateral Ocular Duplication	Encephalocele, Median cleft lip, Abnormal pupil morphology, Cleft palate, Microcornea, Iris coloboma	ORPHA:3374
Mosaic Variegated Aneuploidy Syndrome	Micrognathia, Depressed nasal ridge, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Atr...	ORPHA:1052
Hypoplastic Left Heart Syndrome	Mitral atresia, Maternal diabetes, Patent ductus arteriosus, Hypoplastic aortic arch, Hypoplastic...	ORPHA:2248
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Micrognathia, High palate, Biparietal narrowing, Atrioventricula...	ORPHA:251071
Mitochondrial Complex I Deficiency, Nuclear Type 18	Death in infancy, Respiratory failure	OMIM:618240
Polyendocrine-Polyneuropathy Syndrome	Hypogonadotropic hypogonadism, Anterior pituitary hypoplasia, Central hypothyroidism, Abnormal th...	OMIM:616113
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14	Wide nose, Anteverted nares, Depressed nasal bridge, Maturity-onset diabetes of the young, Microg...	ORPHA:96184
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Anophthalmia, Sclerocornea, Precocious puberty, Microcornea, Coloboma, Ectopia pupillae...	OMIM:615877
Polyhydramnios, Megalencephaly, And Symptomatic Epilepsy	Facial hypotonia, Diabetes insipidus, Megalencephaly, Thick lower lip vermilion, Wide nasal bridg...	OMIM:611087
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 1	Crackles, Dyspnea, Premature graying of hair, Decreased DLCO, Pulmonary fibrosis, Cough, Reticula...	OMIM:614742
Ctcf-Related Neurodevelopmental Disorder	Short philtrum, Joint contracture of the 5th finger, Atrial septal defect, Microdontia, Low-set, ...	ORPHA:363611
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Epispadias, Agenesis of corpus callo...	ORPHA:2556
Chromosome 18Q Deletion Syndrome	Mandibular prognathia, Decreased response to growth hormone stimulation test, Prominent nose, Dow...	OMIM:601808
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Chorioretinal dysplasia, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Micr...	OMIM:251270
Focal Dermal Hypoplasia	Ureteral duplication, Anophthalmia, Cleft ala nasi, Congenital diaphragmatic hernia, Oligodontia,...	OMIM:305600
Chromosome 1P35 Deletion Syndrome	Thin upper lip vermilion, Posteriorly rotated ears, Microcephaly, Micrognathia, Cryptorchidism, S...	OMIM:617930
46,Xy Sex Reversal 4	Renal dysplasia, Anteverted nares, Hypergonadotropic hypogonadism, Micrognathia, Prominent nose, ...	OMIM:154230
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Cataract, Micrognathia, Microcornea, Coloboma, Iris transillumina...	OMIM:617306
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Cataract, Cryptorchidism, Hydrocephalus, Retinal coloboma, Hypogonadism, Microphthalmia	OMIM:601794
Lissencephaly 6 With Microcephaly	Thin upper lip vermilion, Anteverted nares, Microcephaly, Partial agenesis of the corpus callosum...	OMIM:616212
Branchiooculofacial Syndrome	Anophthalmia, Micrognathia, Renal cyst, Conductive hearing impairment, Ectopic thymus tissue, Hyp...	OMIM:113620
Van Den Ende-Gupta Syndrome	Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Knee flexion contr...	OMIM:600920
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Anteverted nares, Prominent nasal bridge, Uplifted earlobe, Protruding ear, Wide mouth, Prominent...	OMIM:615722
Cerebrocostomandibular Syndrome	Micrognathia, Ectopic kidney, Porencephalic cyst, Renal cyst, Glossoptosis, High palate, Conducti...	OMIM:117650
Tularemia	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Pneumonia, Pulmonary infiltrat...	ORPHA:3392
Ramos-Arroyo Syndrome	Frontal bossing, Anteverted nares, Depressed nasal bridge, Carious teeth, Narrow mouth, Patent du...	ORPHA:1051
Frontometaphyseal Dysplasia 1	Skeletal muscle atrophy, Selective tooth agenesis, Absent frontal sinuses, Knee flexion contractu...	OMIM:305620
Linear Skin Defects With Multiple Congenital Anomalies 2	Microcephaly, Hypoplasia of the corpus callosum, Long philtrum, Microphthalmia, Agenesis of corpu...	OMIM:300887
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Proximal muscle weakness in upper limbs, Scapular winging, Cardiomegaly, Proximal muscle weakness...	ORPHA:268
Temple-Baraitser Syndrome	Wide nose, Depressed nasal bridge, Wide mouth, Downturned corners of mouth, Short columella, Thic...	OMIM:611816
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Natal tooth, Frontal bossing, Absent gallbladder, Depressed nasal bridge, Abnormal pinna morpholo...	OMIM:617925
9Q33.3Q34.11 Microdeletion Syndrome	Wide nose, Abnormal pinna morphology, Epistaxis, Abnormality of the kidney, Microcephaly, Cryptor...	ORPHA:495818
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy	Impaired lymphocyte transformation with phytohemagglutinin, Pericardial effusion, T lymphocytopen...	OMIM:619313
Turnpenny-Fry Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Dental crowding, Brachycephaly, Downturned c...	OMIM:618371
Mckusick-Kaufman Syndrome	Urethral stricture, Multicystic kidney dysplasia, Ventricular septal defect, Renal hypoplasia/apl...	ORPHA:2473
Sturge-Weber Syndrome	Conjunctival telangiectasia, Cerebral calcification, Corneal dystrophy, Hydrocephalus, Gingival o...	ORPHA:3205
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Frontal bossing, Ventricular septal defect, Craniosynostosis, Micrognathia, Underdeveloped nasal ...	OMIM:250410
Fanconi Anemia, Complementation Group O	Cryptorchidism, Stage 5 chronic kidney disease, Renal cyst, Abnormal heart morphology, Small then...	OMIM:613390
Cog2-Cdg	Diffuse cerebral atrophy, Secondary microcephaly, Small pituitary gland, Hypoplasia of the corpus...	ORPHA:435934
Peripartum Cardiomyopathy	Diabetes mellitus, Left atrial enlargement, Abnormality of thyroid physiology, Myocarditis, Dilat...	ORPHA:563
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Respiratory insufficiency	ORPHA:370968
Joint Laxity, Short Stature, And Myopia	Iris coloboma, Joint hypermobility, Chorioretinal coloboma	OMIM:617662
Intellectual Developmental Disorder, Autosomal Recessive 65	Inguinal hernia, Abnormal pinna morphology, Prominent nasal bridge, Supernumerary nipple, Hypospa...	OMIM:618109
Orofaciodigital Syndrome Type 1	Micrognathia, Lobulated tongue, High palate, Agenesis of corpus callosum, Dandy-Walker malformati...	ORPHA:2750
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome	Omphalocele, Multicystic kidney dysplasia, Hydroureter, Neoplasm of the heart, Cryptorchidism, Me...	ORPHA:2241
Cerebrooculofacioskeletal Syndrome 2	Cataract, Camptodactyly of finger, Micrognathia, Microcephaly, Developmental cataract, Death in c...	OMIM:610756
Immunodeficiency 9	Myopathy, Hypoplasia of the thymus, Recurrent aphthous stomatitis, Stomatitis, Amelogenesis imper...	OMIM:612782
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, EMG: myopathic ab...	OMIM:615418
Congenital Disorder Of Glycosylation, Type Iiq	Diffuse cerebral atrophy, Secondary microcephaly, Small pituitary gland, Hypoplasia of the corpus...	OMIM:617395
Developmental And Epileptic Encephalopathy 108	Small pituitary gland, Thin corpus callosum	OMIM:620115
Chondrodysplasia With Joint Dislocations, Gpapp Type	Micrognathia, Wide nasal bridge, Cleft palate, Narrow mouth, Coronal craniosynostosis, Short nose...	OMIM:614078
Intellectual Developmental Disorder, Autosomal Dominant 53	Ventricular septal defect, Microcephaly, Cryptorchidism, Thick corpus callosum, Brachycephaly, Wi...	OMIM:617798
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Omphalocele, Cerebral calcification, Micrognathia, Aqueductal stenosis, Splenomegaly	ORPHA:3035
Rhombencephalosynapsis	Microretrognathia, Low-set, posteriorly rotated ears, Septo-optic dysplasia, Agenesis of cerebell...	ORPHA:59315
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Ventricular septal defect, Nephrolithiasis, Biventricular hypertrophy, Primary hyperaldosteronism...	OMIM:615474
Wiedemann-Rautenstrauch Syndrome	Micrognathia, Secundum atrial septal defect, Flexion contracture, Brachycephaly, Downturned corne...	OMIM:264090
Birt-Hogg-Dubé Syndrome	Emphysema, Pneumothorax, Pulmonary sequestration	ORPHA:122
Idiopathic Pulmonary Arterial Hypertension	Abnormality of connective tissue, Chronic hemolytic anemia, Abnormal jugular vein morphology, Rig...	ORPHA:275766
Polyhydramnios-Megalencephaly-Symptomatic Epilepsy Syndrome	Decreased muscle mass, Tented upper lip vermilion, Facial hypotonia, Cerebral white matter hypopl...	ORPHA:500533
Goldberg-Shprintzen Megacolon Syndrome	Microcephaly, Cleft palate, Hypoplasia of the corpus callosum, Pachygyria, Iris coloboma	ORPHA:66629
Proteus-Like Syndrome	Communicating hydrocephalus, Mandibular prognathia, Thymus hyperplasia, Anteverted nares, Open bi...	ORPHA:2969
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Type II lissencephaly	OMIM:614830
Congenital Megacalycosis	Recurrent urinary tract infections, Nephrolithiasis, Renal cyst, Hematuria, Tubulointerstitial ne...	ORPHA:93109
Congenital Aortic Valve Stenosis	Thoracic aortic aneurysm, Aortic valve calcification, Aortic valve atresia, Endocarditis, Endocar...	ORPHA:3093
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Cyanosis, Exertional dyspnea	OMIM:250800
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Narrow mouth, Cryptor...	OMIM:601353
Maternal Phenylketonuria	Ventricular septal defect, Anteverted nares, Micrognathia, Microcephaly, Abnormal renal morpholog...	ORPHA:2209
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Conical tooth, Abnormality of the dentition, Cryptorchidism, Hypogonadism, Microph...	ORPHA:228390
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Mandibular prognathia, Inguinal hernia, Micrognathia, Lens coloboma, Cupped ear, Renal hypoplasia...	OMIM:618914
Otopalatodigital Syndrome, Type Ii	Omphalocele, Frontal bossing, Depressed nasal bridge, Elbow contracture, Spina bifida, Micrognath...	OMIM:304120
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Ventricular septal defect, Asplenia, Patent ductus art...	ORPHA:210122
Kagami-Ogata Syndrome	Omphalocele, Pursed lips, Frontal bossing, Inguinal hernia, Anteverted nares, Diastasis recti, De...	ORPHA:254519
Cockayne Syndrome Type 3	Skeletal muscle atrophy, Cerebral white matter atrophy, Basal ganglia calcification, Flexion cont...	ORPHA:90324
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Decreased serum insulin-like growth factor 1, Ventricular septal defect, Cardiomega...	OMIM:614921
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Posteriorly rotated ears, Microcephaly, Micrognathia, Cryptorchidism, Wi...	OMIM:224410
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Crackles, Abnormal pleura morphology, Dyspnea, Restrictive ventilatory defect, Pulmonary fibrosis...	ORPHA:210136
Spastic Paraplegia 47, Autosomal Recessive	Microcephaly, Bulbous nose, Flexion contracture, Wide nasal bridge, Wide mouth, High palate, Shor...	OMIM:614066
Goodpasture Syndrome	Cyanosis, Nodular pattern on pulmonary HRCT, Crackles, Ground-glass opacification, Increased DLCO...	OMIM:233450
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Holoprosencephaly, Biparietal...	ORPHA:818
Hereditary Methemoglobinemia	Cyanosis, Exertional dyspnea	ORPHA:621
Pulmonary Hypertension, Primary, 5	Right ventricular hypertrophy	OMIM:265400
Steinfeld Syndrome	Absent gallbladder, Bifid uvula, Retinal coloboma, Holoprosencephaly, Microphthalmia, Iris colobo...	OMIM:184705
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch...	OMIM:607625
Rapp-Hodgkin Syndrome	Depressed nasal bridge, Hypospadias, Supernumerary nipple, Cleft upper lip, Conical tooth, Cariou...	OMIM:129400
Severe Combined Immunodeficiency, X-Linked	Impaired lymphocyte transformation with phytohemagglutinin, Hepatomegaly, Hypoplasia of the thymu...	OMIM:300400
Leopard Syndrome 1	Mandibular prognathia, Depressed nasal ridge, Protruding ear, Aplasia of the ovary, Micropenis, P...	OMIM:151100
Infundibulopelvic Dysgenesis	Multicystic kidney dysplasia, Microscopic hematuria	OMIM:600989
Monosomy 18P	Micrognathia, Carious teeth, Microcephaly, Cleft palate, Downturned corners of mouth, Short philt...	ORPHA:1598
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Skeletal muscle atrophy, Micrognathia, Flexion contracture, Brachycephaly, Protruding ear, Oligod...	OMIM:309590
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects	Microcephaly, Diastema, Bulbous nose, Wide mouth, Hypoplasia of the corpus callosum, Global brain...	OMIM:618470
Microphthalmia, Isolated 4	Microphthalmia, Coloboma, Absent testis	OMIM:613094
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Bartsocas-Papas Syndrome	Median cleft lip, Microcephaly, Micrognathia, Underdeveloped nasal alae, Renal hypoplasia/aplasia...	ORPHA:1234
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Aplasia of the nasal bone, Streak ovary, Hypospadias, Absent septum pellucidum, Acra...	OMIM:618820
Trisomy 10P	Decreased muscle mass, Micrognathia, Simplified gyral pattern, Orofacial cleft, High palate, Dand...	ORPHA:171929
Doors Syndrome	Adrenal hyperplasia, Short lingual frenulum, Brachycephaly, Downturned corners of mouth, Nephroca...	ORPHA:79500
Autosomal Recessive Spondylocostal Dysostosis	Low-set, posteriorly rotated ears, Inguinal hernia, Anteverted nares, Camptodactyly of finger, Co...	ORPHA:2311
Sim1-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Premature pubarche, Hypogonadotropic hypogonadism, Precocio...	ORPHA:398079
Acrofacial Dysostosis Syndrome Of Rodriguez	Posteriorly rotated ears, Prominent nose, Micrognathia, Wide nasal bridge, High palate, Short phi...	OMIM:201170
Arthrogryposis, Distal, Type 2B3	Camptodactyly, Narrow mouth	OMIM:618436
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Decreased testicular size, Cleft palate, Microcephaly	ORPHA:85273
7Q31 Microdeletion Syndrome	Skeletal muscle atrophy, Torticollis, Wide nasal ridge, Prominent nose, Hypoplasia of the maxilla...	ORPHA:251061
Opitz Gbbb Syndrome	Abnormal nasopharynx morphology, Cerebellar vermis hypoplasia, Rectourethral fistula, High palate...	OMIM:300000
Combined Oxidative Phosphorylation Deficiency 11	Renal dysplasia, Hepatomegaly, Renal insufficiency, Renal hypoplasia, Renal cyst, Cardiomyopathy,...	OMIM:614922
Immunodeficiency 54	Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency	OMIM:609981
X-Linked Intellectual Disability, Armfield Type	Mandibular prognathia, Inguinal hernia, Depressed nasal bridge, Micrognathia, Cryptorchidism, Pat...	ORPHA:85276
Tetrasomy 9P	Myositis, Dental crowding, Micrognathia, Downturned corners of mouth, High palate, Short philtrum...	ORPHA:3310
Cloacal Exstrophy	Omphalocele, Hypoplasia of penis, Hydroureter, Spina bifida, Ectopic kidney, Renal hypoplasia/apl...	ORPHA:93929
Esophageal Atresia	Omphalocele, Ventricular septal defect, Choanal atresia, Maternal diabetes, Renal agenesis, Cleft...	ORPHA:1199
Joubert Syndrome With Oculorenal Defect	Encephalocele, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Chorioretinal coloboma, ...	ORPHA:2318
Warburg Micro Syndrome 3	Decreased testicular size, Cataract, Micrognathia, Microcephaly, Flexion contracture, Narrow pala...	OMIM:614222
Wolf-Hirschhorn Syndrome	Micrognathia, Periventricular cysts, Orofacial cleft, Downturned corners of mouth, Short philtrum...	OMIM:194190
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Joint hypermobility, Optic nerve hypoplasia, Cleft upper lip, High, narrow palate, Bilateral micr...	OMIM:607597
Glycogen Storage Disease Due To Acid Maltase Deficiency	Hepatomegaly, Facial hypotonia, Transient ischemic attack, Glycogen accumulation in muscle fiber ...	ORPHA:365
Spondylodysplastic Ehlers-Danlos Syndrome	Osteopenia, Abnormality of the temporomandibular joint, Multiple joint contractures, Micrognathia...	ORPHA:536471
Ogden Syndrome	Microretrognathia, Frontal bossing, Everted upper lip vermilion, Torticollis, Ventricular septal ...	ORPHA:276432
Mucolipidosis Type Ii	Hip contracture, Inguinal hernia, Abnormal mitral valve morphology, Diastasis recti, Depressed na...	ORPHA:576
Congenital Heart Block	Pleural effusion, Cyanosis, Crackles	ORPHA:60041
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Anteverted nares, Depressed nasal bridge, High, narrow palate, Bulbous nose, Thick lower lip verm...	OMIM:617268
Lujo Hemorrhagic Fever	Respiratory distress, Crackles, Atelectasis, Nonproductive cough, Rhinitis, Ecchymosis, Purpura	ORPHA:319213
Juberg-Hayward Syndrome	Microcephaly, Limited elbow extension, Decreased response to growth hormone stimulation test, Cle...	OMIM:216100
Floating-Harbor Syndrome	Hypoplasia of the maxilla, Long nose, Renal cyst, Nephrocalcinosis, Oligodontia, Short philtrum, ...	ORPHA:2044
Eec Syndrome	Hypospadias, Abnormal dental enamel morphology, Choanal atresia, Decreased response to growth hor...	ORPHA:1896
Orofacial Cleft 14	Median cleft lip	OMIM:615892
Tangier Disease	Accelerated atherosclerosis, Orange discolored tonsils, Chronic noninfectious lymphadenopathy, Ca...	ORPHA:31150
Fetal Alcohol Syndrome	Thin upper lip vermilion, Joint stiffness, Micrognathia, Microcephaly, Non-midline cleft lip, Cle...	ORPHA:1915
Silver-Russell Syndrome Due To Maternal Uniparental Disomy Of Chromosome 7	Frontal bossing, Decreased muscle mass, Dental crowding, Decreased response to growth hormone sti...	ORPHA:96182
Pituitary Carcinoma	Enlarged pituitary gland, Elevated circulating growth hormone concentration, Pituitary corticotro...	ORPHA:300385
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Microcephaly, Hypothyroidism, Lens coloboma, Ecto...	ORPHA:42775
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Pulmonary arterial hypertension, Respira...	ORPHA:258
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter...	OMIM:605711
Axenfeld-Rieger Syndrome, Type 2	Mandibular prognathia, Inguinal hernia, Hypospadias, Hypoplasia of the maxilla, Cryptorchidism, H...	OMIM:601499
Cleft Lip-Retinopathy Syndrome	Non-midline cleft lip	ORPHA:1995
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Hypopnea,...	OMIM:618426
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Ground-glass opacification, Respiratory tract infection, Dysp...	ORPHA:79128
Childhood-Onset Spasticity With Hyperglycinemia	Left ventricular hypertrophy	ORPHA:401866
Hyperphosphatasia-Intellectual Disability Syndrome	Mandibular prognathia, Tented upper lip vermilion, Prominent nasal bridge, Supernumerary nipple, ...	ORPHA:247262
Developmental And Epileptic Encephalopathy 66	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Ventricular septal defect, Dextrocardia, ...	OMIM:618067
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Cutis Laxa-Marfanoid Syndrome	Emphysema	ORPHA:171719
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Abnormal pancreas morphology, Enlargement of parotid gland, Abnormal sa...	ORPHA:449432
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Thin upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Reduced cerebral wh...	OMIM:620075
Bladder Exstrophy	Omphalocele, Recurrent urinary tract infections, Hypoplasia of penis, Inguinal hernia, Epispadias...	ORPHA:93930
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Median cleft lip, Optic nerve hypoplasia, Alobar holoprosencephaly, Microg...	OMIM:301043
Smith-Kingsmore Syndrome	Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Diastasis recti, Reduced cereb...	OMIM:616638
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Microcephaly, Micrognathia, Deep philtrum, Orofacial cleft, Incomplete cleft of the upper lip	ORPHA:77300
Meier-Gorlin Syndrome 7	Urethral stricture, Copper beaten skull, High palate, Vesicoureteral reflux, Atrial septal defect...	OMIM:617063
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure	ORPHA:168486
1P36 Deletion Syndrome	Hypoplasia of penis, Abnormality of the spleen, Depressed nasal ridge, Brachycephaly, Renal cyst,...	ORPHA:1606
Peroxisome Biogenesis Disorder 11A (Zellweger)	Anteverted nares, Depressed nasal bridge, Renal cyst, Lissencephaly, Multiple renal cysts, Polymi...	OMIM:614883
Kleefstra Syndrome Due To A Point Mutation	Natal tooth, Inguinal hernia, Abnormality of the kidney, Uplifted earlobe, Abnormality of the den...	ORPHA:261652
Scleromyxedema	Abnormal coronary artery morphology, Transient ischemic attack, Abnormality of thyroid physiology...	ORPHA:167635
Severe Intellectual Disability And Progressive Spastic Paraplegia	Everted upper lip vermilion, Facial hypotonia, Microcephaly, Bulbous nose, Wide mouth, High palat...	ORPHA:280763
Microcephaly-Micromelia Syndrome	Wide nose, Craniosynostosis, Micrognathia, Aqueductal stenosis, Microcephaly, Simplified gyral pa...	OMIM:251230
Schinzel-Giedion Syndrome	Micrognathia, Abnormality of the gingiva, Renal cyst, Short philtrum, High palate, Choanal stenos...	ORPHA:798
Alar Cartilages Hypoplasia-Coloboma-Telecanthus Syndrome	Non-midline cleft lip	ORPHA:2007
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Brachycephaly, Protruding ear, High palate, Atrial septal defect, Microretrognathia, Scarring, Hi...	OMIM:601776
Oculodentodigital Dysplasia	Cataract, Selective tooth agenesis, Cleft upper lip, Carious teeth, Basal ganglia calcification, ...	OMIM:164200
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Multifocal hyperintensity of cerebral white matter on MRI, Hepatomegaly, Facial hypotonia, Cardio...	ORPHA:308552
Constricting Bands, Congenital	Encephalocele, Omphalocele, Cleft upper lip, Cleft palate, Gastroschisis, Ectopia cordis, Bladder...	OMIM:217100
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Aplasia/Hypoplasia involving the nose, Inguinal hernia, Hypogonadotropic hypogonadism, Choanal at...	ORPHA:1135
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Conical tooth, Ectopic kidney, Partial agenesis of the corpus ca...	OMIM:135900
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Ring Chromosome 7 Syndrome	Mandibular prognathia, Brachycephaly, Short philtrum, Holoprosencephaly, Small earlobe, Median cl...	ORPHA:1449
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Mandibular prognathia, Dental crowding, Cleft hard palate, Abnormal pupil morphology, Flexion con...	ORPHA:261552
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Micrognathia, Microcephaly, Cryptorchidism, High palate, Atresia of the external auditory canal, ...	OMIM:602471
Aorto-Ventricular Tunnel	Ventricular hypertrophy, Abnormal coronary artery morphology, Abnormal heart valve morphology, Ao...	ORPHA:3400
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Proximal 16P11.2 Microdeletion Syndrome	Multicystic kidney dysplasia, Dextrocardia, Congenital diaphragmatic hernia, Micrognathia, Cranio...	ORPHA:261197
Distal 16P11.2 Microdeletion Syndrome	Renal agenesis, Abnormality of the kidney, Prominent nasal bridge, Proteinuria, Chronic kidney di...	ORPHA:261222
Mowat-Wilson Syndrome	Uplifted earlobe, Large basal ganglia, Widely spaced teeth, Atrial septal defect, Agenesis of cor...	OMIM:235730
Robinow Syndrome, Autosomal Recessive 1	Tented upper lip vermilion, Dental crowding, Micrognathia, Nephrocalcinosis, Micropenis, Renal du...	OMIM:268310
D-Bifunctional Protein Deficiency	Decreased muscle mass, Micrognathia, Cortical dysplasia, Renal cyst, High palate, Long philtrum, ...	OMIM:261515
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Epispadias, An...	ORPHA:2554
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome	Renal malrotation, Multicystic kidney dysplasia, Transient neutropenia, Ventricular septal defect...	ORPHA:500095
Distal Duplication 17Q	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Frontal bossing, Accessory spleen, D...	ORPHA:3379
Laubry-Pezzi Syndrome	Aortic valve prolapse, Bicuspid aortic valve, Ventricular septal defect, Abnormal aortic valve cu...	ORPHA:99094
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Inguinal hernia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Mitral atresia, Anteverted ...	OMIM:220111
Autosomal Spastic Paraplegia Type 18	Hip contracture, Abnormal pinna morphology, Ankle flexion contracture, Neck joint contracture, Fl...	ORPHA:209951
Cardiomyopathy, Familial Hypertrophic, 10	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Asymme...	OMIM:608758
Ritscher-Schinzel Syndrome 3	Thin upper lip vermilion, Death in infancy, Micrognathia, Wide anterior fontanel, Cryptorchidism,...	OMIM:619135
Neuromyelitis Optica Spectrum Disorder	Respiratory failure	ORPHA:71211
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Radio-Tartaglia Syndrome	Dental crowding, Micrognathia, High, narrow palate, High palate, Short philtrum, Conductive heari...	OMIM:619312
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Inguinal hernia, Facial hypotonia, Optic nerve hypoplasia, Anteverted nares, Olivopontocerebellar...	ORPHA:457284
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Thin upper lip vermilion, Decreased response to growth hormone stimulation test, Patchy osteoscle...	OMIM:241410
Robinow Syndrome, Autosomal Dominant 1	Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou...	OMIM:180700
Hallermann-Streiff Syndrome	Natal tooth, Frontal bossing, Choanal atresia, Abnormality of the dentition, Micrognathia, High, ...	ORPHA:2108
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Diffuse cerebral atrophy, Severe B lymphocytopenia, Micrognathia, Biliary hyperplasia, Choanal st...	ORPHA:83617
Monosomy 13Q14	Cataract, Micrognathia, Microcephaly, Holoprosencephaly, Hypoplasia of the corpus callosum, Micro...	ORPHA:1587
Intellectual Developmental Disorder, Autosomal Dominant 58	Inguinal hernia, Dental crowding, Facial hypotonia, Posteriorly rotated ears, Protruding tongue, ...	OMIM:618106
Epidermolysis Bullosa Simplex 7, With Nephropathy And Deafness	Lacrimal duct stenosis	OMIM:609057
Jansen-De Vries Syndrome	Thin upper lip vermilion, Ventricular septal defect, Bicuspid aortic valve, Anteverted nares, Pos...	OMIM:617450
Dubowitz Syndrome	Delayed eruption of teeth, Micrognathia, Carious teeth, Microcephaly, Velopharyngeal insufficienc...	OMIM:223370
Nance-Horan Syndrome	Mandibular prognathia, Cataract, Abnormality of the dentition, Supernumerary tooth, Microcornea, ...	ORPHA:627
Renal-Hepatic-Pancreatic Dysplasia 1	Hepatomegaly, Renal insufficiency, Pancreatic fibrosis, Hepatic cysts, Situs inversus totalis, Sp...	OMIM:208540
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Recurrent urinary tract infections, Dextrocardia, Situs invers...	OMIM:613095
Prader-Willi Syndrome	Osteopenia, Decreased response to growth hormone stimulation test, Downturned corners of mouth, P...	ORPHA:739
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Inguinal hernia, Hydronephrosis	OMIM:235760
Mitochondrial Complex Iv Deficiency, Nuclear Type 22	3-hydroxydicarboxylic aciduria, Increased urine alpha-ketoglutarate concentration, Ketonuria, Dic...	OMIM:619355
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Hijazi-Reis Syndrome	Astigmatism, Iris coloboma	OMIM:301094
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Microcephaly, Secundum atrial septal defect, Broad nasal tip, Bifid nasal tip, Absence of renal c...	OMIM:619758
Polysyndactyly With Cardiac Malformation	Anteverted nares, Ventricular septal defect, Renal cyst, Atrial septal defect, Hepatic cysts	OMIM:263630
Acromelic Frontonasal Dysostosis	Encephalocele, Tubulonodular pericallosal lipoma, Hypopituitarism, Remnants of the hyaloid vascul...	OMIM:603671
Developmental And Epileptic Encephalopathy 87	Prominent nose, Bulbous nose, Cerebral atrophy, Wide mouth, High palate, Widely spaced teeth, U-S...	OMIM:618916
Microphthalmia, Isolated 8	Anophthalmia, Optic nerve hypoplasia, Retinal coloboma, Microphthalmia, True anophthalmia	OMIM:615113
Liang-Wang Syndrome	Thin upper lip vermilion, Diastema, Gingival overgrowth, Cerebral atrophy, Wide nasal bridge, Dow...	OMIM:618729
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Microcephaly, Decreased response to growth horm...	OMIM:609053
Arthrogryposis, Distal, Type 5D	Tongue atrophy, Decreased muscle mass, Anteverted nares, Micrognathia, Bulbous nose, Elbow flexio...	OMIM:615065
Temple-Baraitser Syndrome	Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Anteverted na...	ORPHA:420561
Spondylo-Ocular Syndrome	Cataract, Aplasia/Hypoplasia of the lens, Osteoporosis, Joint hyperflexibility, Thin vermilion bo...	ORPHA:85194
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Uplifted ...	OMIM:613406
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Diabetes mellitus, Hydroureter, Megaloblastic anemia, Sensorineural hearing...	OMIM:598500
Meier-Gorlin Syndrome 2	Abnormal pinna morphology, Microcephaly, Micrognathia, Narrow mouth, Underdeveloped nasal alae, D...	OMIM:613800
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Chromosome 16P13.3 Duplication Syndrome	Tented upper lip vermilion, Micrognathia, Protruding ear, Atrial septal defect, Microdontia, Bifi...	OMIM:613458
Distal Deletion 10P	Microcephaly, Micrognathia, Joint stiffness, Non-midline cleft lip, Cryptorchidism, Cleft palate,...	ORPHA:1580
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Recurrent respiratory infections, Respiratory failure requiring assisted ve...	OMIM:211530
Fibular Hemimelia	Anophthalmia, Craniosynostosis, Spina bifida, Abnormal heart morphology, Thoracoabdominal wall de...	ORPHA:93323
Galloway-Mowat Syndrome 6	Anteverted nares, Decreased response to growth hormone stimulation test, Proteinuria, Microcephal...	OMIM:618347
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Arthrogryposis, Distal, Type 2B2	Camptodactyly, Narrow mouth	OMIM:618435
Malaria	Respiratory distress	ORPHA:673
Diaphanospondylodysostosis	Inguinal hernia, Nephrogenic rest, Depressed nasal bridge, Micrognathia, Depressed nasal ridge, N...	OMIM:608022
Cardiomyopathy, Familial Hypertrophic, 17	Left ventricular hypertrophy, Hypertrophic cardiomyopathy, Myocardial fibrosis	OMIM:613873
Sandestig-Stefanova Syndrome	Orofacial cleft, Developmental cataract, High palate, Hypoplasia of the corpus callosum, Camptoda...	OMIM:618804
Tuberous Sclerosis 1	Dental enamel pits, Cerebral calcification, Precocious puberty, Gingival fibromatosis, Cardiac rh...	OMIM:191100
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Melnick-Needles Syndrome	Delayed eruption of teeth, Obtuse angle of mandible, Omphalocele, Ureteral stenosis, Micrognathia...	OMIM:309350
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Recurrent respiratory infections, Respiratory failure, Dyspnea	ORPHA:2759
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi...	OMIM:619503
Trichothiodystrophy 4, Nonphotosensitive	Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of teeth, Microcornea, Keratoco...	OMIM:234050
17P11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Abnormal dental morphology, Micrognathia, Open bite, Microceph...	ORPHA:1713
Posterior Urethral Valve	Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Abnormal ...	ORPHA:93110
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Decreased circulating cortisol level, Adrenal hyperplasia, High, narrow palate, Decreased circula...	ORPHA:95699
Orofaciodigital Syndrome Vi	Accessory oral frenulum, Cleft upper lip, Hamartoma of tongue, Micrognathia, Porencephalic cyst, ...	OMIM:277170
Neuropathy, Congenital Hypomyelinating, 3	Neonatal death, Respiratory failure, Respiratory insufficiency	OMIM:618186
Congenital Disorder Of Glycosylation, Type Ia	Cerebellar vermis hypoplasia, Flexion contracture, Renal cyst, Hypothyroidism, Hepatomegaly, Depr...	OMIM:212065
Intellectual Developmental Disorder, Autosomal Dominant 1	Mandibular prognathia, Cerebellar vermis hypoplasia, Micrognathia, Prominent nose, Depressed nasa...	OMIM:156200
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis	ORPHA:228396
Hanac Syndrome	Hematuria, Renal insufficiency, Multiple renal cysts	ORPHA:73229
Joubert Syndrome With Hepatic Defect	Occipital encephalocele, Hydrocephalus, Optic disc coloboma, Orofacial cleft, Aplasia/Hypoplasia ...	ORPHA:1454
Weyers Ulnar Ray/Oligodactyly Syndrome	Micrognathia, Cleft upper lip, Cleft palate, High palate, Solitary median maxillary central incis...	OMIM:602418
Wolf-Hirschhorn Syndrome	Abnormality of the philtrum, Sclerocornea, Cleft upper lip, Micrognathia, Microcephaly, Cryptorch...	ORPHA:280
Joubert Syndrome 16	Encephalocele, Renal cyst, Dandy-Walker malformation, Nephronophthisis	OMIM:614465
Oral Submucous Fibrosis	Trismus, Narrow mouth, Flexion contracture, Cheilitis, Abnormal oral cavity morphology	ORPHA:357154
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Micrognathia, Long nose, T lymphocytopenia, Hepatomegaly, Cloverleaf skull, Anteverted nares, Dep...	ORPHA:508533
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness	Renal insufficiency, Cerebral calcification, Microcephaly, Narrow mouth, Congenital sensorineural...	OMIM:619147
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Nasolacrimal duct obstruction	ORPHA:440727
Polycystic Kidney Disease 1 With Or Without Polycystic Liver Disease	Renal insufficiency, Cerebral berry aneurysm, Mitral valve prolapse, Polycystic kidney dysplasia,...	OMIM:173900
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Brachycephaly, Diastema, Gingival overgrowth, Low-set ears, Retrognathia, ...	OMIM:212066
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Intellectual Developmental Disorder, X-Linked 103	Anteverted nares, Bilateral cryptorchidism, Wide mouth, Micropenis, Polymicrogyria	OMIM:300982
Smith-Lemli-Opitz Syndrome	Diffuse cerebral atrophy, Dental crowding, Micrognathia, Partial agenesis of the corpus callosum,...	OMIM:270400
Fabry Disease	Abnormal endocardium morphology, Glomerulopathy, Renal insufficiency, Abnormal renal tubule morph...	ORPHA:324
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Abnormal heart valve morphology, Anteverted n...	ORPHA:1340
Trisomy 8Q	Camptodactyly of finger, Joint stiffness, Micrognathia, Cryptorchidism, Myelomeningocele, Bone cy...	ORPHA:1752
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Cataract, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Flexion contra...	OMIM:253800
Lethal Omphalocele-Cleft Palate Syndrome	Omphalocele, Cleft soft palate, Hydrocephalus, Cleft palate, Unilateral cleft lip, Retrognathia, ...	ORPHA:2736
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cerebellar vermis hypoplasia, Prominent nose, Brachycephaly, Abnormal periodontium morphology, Hy...	ORPHA:480880
Treacher Collins Syndrome 1	Cleft soft palate, Choanal atresia, Micrognathia, Cryptorchidism, Bilateral microphthalmos, Cleft...	OMIM:154500
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome	Thin upper lip vermilion, Everted upper lip vermilion, Facial hypotonia, Optic nerve hypoplasia, ...	OMIM:618381
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Underdeveloped superior crus of antihelix,...	ORPHA:369950
15q26 overgrowth syndrome	Mandibular prognathia, Abnormal pinna morphology, Camptodactyly of finger, Craniosynostosis, Micr...	DECIPHER:81
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Mandibular prognathia, Thin upper lip vermilion, Wide mouth, Everted lower lip vermilion, Short p...	ORPHA:2429
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Frontal bossing, Inguinal hernia, Abnormal mitral valve morphology, Microcephaly, Prominent nose,...	ORPHA:1292
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Iris coloboma, Ectopia lentis	ORPHA:1259
Skin Creases, Congenital Symmetric Circumferential, 2	Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Uplifted earlobe, Mic...	OMIM:616734
Rhyns Syndrome	Hypopituitarism, Multicystic kidney dysplasia, Nephronophthisis, Hearing impairment	ORPHA:140976
Multiple Mitochondrial Dysfunctions Syndrome 3	Respiratory failure, Respiratory insufficiency	OMIM:615330
16P12.1P12.3 Triplication Syndrome	Decreased response to growth hormone stimulation test, Bilateral cryptorchidism, High, narrow pal...	ORPHA:485405
Split hand/foot malformation 1 (SHFM1)	Lacrimal duct aplasia	DECIPHER:46
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Hypoplasia of penis, Tented upper lip vermilion, Flexion contracture, Depressed nasal ridge, Agen...	ORPHA:847
Cowden Syndrome 5	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Thyroiditis, Furrowed tongue, H...	OMIM:615108
Magel2-Related Prader-Willi-Like Syndrome	Osteopenia, Thin upper lip vermilion, Premature pubarche, Precocious puberty, Cryptorchidism, Fle...	ORPHA:398069
Waardenburg Syndrome Type 1	Mandibular prognathia, Tented upper lip vermilion, Spina bifida, Cleft upper lip, Meningocele, Cl...	ORPHA:894
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Multicystic kidney dysplasia, Cerebral calcification, Microcephaly, Cryptorchidism, Protruding ea...	ORPHA:73246
Noonan Syndrome 13	Duplicated collecting system, Anteverted nares, Posteriorly rotated ears, Micrognathia, Microceph...	OMIM:619087
Bardet-Biedl Syndrome 17	Dextrocardia, Polyuria, Situs inversus totalis, Anosmia, Stage 5 chronic kidney disease, Renal cy...	OMIM:615994
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Frank-Ter Haar Syndrome	Flat occiput, Micrognathia, Secundum atrial septal defect, Abnormally large globe, Brachycephaly,...	OMIM:249420
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis	ORPHA:449285
Panhypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95513
Peters-Plus Syndrome	Short lingual frenulum, Bilobate gallbladder, Limited elbow movement, Micrognathia, Hypoplasia of...	OMIM:261540
Coffin-Siris Syndrome	Simplified gyral pattern, Papillary thyroid carcinoma, Hernia, Atrial septal defect, Thick nasal ...	ORPHA:1465
Renal Hypoplasia	Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ...	ORPHA:93101
Schwartz-Jampel Syndrome	Skeletal muscle atrophy, Micrognathia, High palate, Wrist flexion contracture, Low-set, posterior...	ORPHA:800
Rhizomelic Chondrodysplasia Punctata, Type 2	Inguinal hernia, Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge, Micrognathia, ...	OMIM:222765
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly, High, narrow palate, Descending thoracic aorta aneurysm, Abn...	ORPHA:91387
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract...	ORPHA:51636
Down Syndrome	Ventricular septal defect, Protruding tongue, Complete atrioventricular canal defect, Patent duct...	OMIM:190685
Aarskog-Scott Syndrome	Joint laxity, Hyperextensibility of the finger joints, Elevated circulating luteinizing hormone l...	OMIM:305400
Lacrimoauriculodentodigital Syndrome 2	Absent lacrimal punctum, Conjunctivitis, Lacrimal duct atresia, Lacrimal duct aplasia	OMIM:620192
Pfeiffer Syndrome Type 3	Depressed nasal bridge, Choanal atresia, Aqueductal stenosis, Cleft palate, Horseshoe kidney, Hyd...	ORPHA:93260
Intermediate Nemaline Myopathy	Respiratory failure	ORPHA:171433
3P25.3 Microdeletion Syndrome	Mandibular prognathia, Thin upper lip vermilion, Cerebral white matter atrophy, Micrognathia, Hig...	ORPHA:435638
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Micrognathia, Renal cyst, Widely spaced teeth, High palate, Nephronophthisi...	OMIM:266920
Congenital Myopathy 17	Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,...	OMIM:618975
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome	Multicystic kidney dysplasia, Multinodular goiter	ORPHA:2091
Koolen-De Vries Syndrome Due To A Point Mutation	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hand muscle atrophy, Bicuspid aortic valve, Decreased response to growth hormone stimulation test...	ORPHA:363958
16Q24.3 Microdeletion Syndrome	Frontal bossing, Ventricular septal defect, Optic nerve hypoplasia, Anteverted nares, Micrognathi...	ORPHA:261250
Parietal Foramina 1	Encephalocele, Cleft palate, Cleft upper lip	OMIM:168500
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Lymphatic Malformation 12	Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren...	OMIM:620014
Focal Facial Dermal Dysplasia Type Iv	Hydrocephalus, Microcephaly, Cleft palate, Cleft upper lip	ORPHA:398189
Recessive Intellectual Disability-Motor Dysfunction-Multiple Joint Contractures Syndrome	Limb joint contracture, Abnormal pinna morphology, Ankle flexion contracture, Elbow flexion contr...	ORPHA:280384
White-Kernohan Syndrome	Thin upper lip vermilion, Tented upper lip vermilion, Anteverted nares, Depressed nasal bridge, H...	OMIM:619426
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Wide mouth, Wide nose, Microcephaly	OMIM:113477
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Microretrognathia, Scapular winging, Mixed hearing impairment, Carious teeth, Cupped ear, Dental ...	OMIM:615560
Meckel Syndrome 14	Microretrognathia, Occipital encephalocele, Anteverted nares, Micrognathia, Decreased calvarial o...	OMIM:619879
Holzgreve Syndrome	Cleft palate, Cleft upper lip	OMIM:236110
Richieri Costa-Da Silva Syndrome	Decreased muscle mass, Diastasis recti, Abnormality of the dentition, Skeletal muscle hypertrophy...	ORPHA:3101
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Chromosome 17Q12 Deletion Syndrome	Mandibular prognathia, Micrognathia, Renal cyst, Protruding ear, High palate, Multicystic kidney ...	OMIM:614527
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Cog1-Cdg	Low-set, posteriorly rotated ears, Thin upper lip vermilion, Cerebellar vermis hypoplasia, Microg...	ORPHA:263508
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency	OMIM:256000
Pyruvate Dehydrogenase E1-Alpha Deficiency	Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress	OMIM:312170
Kid Syndrome	Sparse eyelashes, Sparse eyebrow, Posterior blepharitis, Keratoconjunctivitis sicca, Conjunctivit...	ORPHA:477
Arterial Tortuosity Syndrome	Ventricular hypertrophy, Inguinal hernia, Carotid artery dissection, Convex nasal ridge, Congenit...	OMIM:208050
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Hypoplasia of the maxilla, Protruding ear, High palate, Abnormal tricusp...	ORPHA:192
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Ventricular septal defect, Prominent nasal bridge, Ankle flexion contracture, Microcephaly, Hypos...	ORPHA:464311
Opitz-Kaveggia Syndrome	Multiple joint contractures, Dental crowding, Cleft upper lip, Micrognathia, Wide anterior fontan...	OMIM:305450
Chondrodysplasia, Blomstrand Type	Malar flattening, Depressed nasal bridge, Preductal coarctation of the aorta, Micrognathia	OMIM:215045
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion	OMIM:306400
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome	Prominent nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Orofacial cleft, Horseshoe ki...	ORPHA:502434
Joubert Syndrome 2	Encephalocele, Frontal bossing, Renal insufficiency, Agenesis of cerebellar vermis, Depressed nas...	OMIM:608091
Penile Agenesis	Urethral atresia, male, Depressed nasal bridge, Ventricular septal defect, Posteriorly rotated ea...	ORPHA:49
Gm1-Gangliosidosis, Type Ii	Hepatomegaly, Protruding tongue, Splenomegaly, Patent ductus arteriosus, Gingival overgrowth, Cer...	OMIM:230600
Berry Aneurysm, Cirrhosis, Pulmonary Emphysema, And Cerebral Calcification	Emphysema	OMIM:210050
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Mandibular prognathia, Midface retrusion, Depressed nasal bridge, Decreased response to growth ho...	OMIM:616007
Ogden Syndrome	Bicuspid aortic valve, Maternal diabetes, Cardiomegaly, Secundum atrial septal defect, Micrognath...	OMIM:300855
Neuroocular Syndrome	Hyperextensibility of the finger joints, Lens coloboma, Microcornea, Downturned corners of mouth,...	OMIM:619539
Mucopolysaccharidosis, Type Ivb	Mandibular prognathia, Hepatomegaly, Inguinal hernia, Grayish enamel, Carious teeth, Recurrent up...	OMIM:253010
Congenital Anomalies Of Kidney And Urinary Tract 2	Renal dysplasia, Renal insufficiency, Hydroureter, Renal hypoplasia, Congenital megaureter, Urete...	OMIM:143400
X-Linked Dominant Chondrodysplasia Punctata	Frontal bossing, Depressed nasal bridge, Abnormal pinna morphology, Scarring alopecia of scalp, S...	ORPHA:35173
Coffin-Siris Syndrome 4	Short philtrum, Atrial septal defect, Pulmonary artery atresia, Thick nasal alae, Agenesis of cor...	OMIM:614609
Galloway-Mowat Syndrome 1	Diffuse mesangial sclerosis, Flat occiput, Micrognathia, Prominent nose, Hypoplasia of the iris, ...	OMIM:251300
Aica-Ribosuria Due To Atic Deficiency	Thin upper lip vermilion, Frontal bossing, Anteverted nares, Prominent nasal bridge, Secundum atr...	OMIM:608688
Cardiomyopathy, Familial Hypertrophic, 11	Atrial septal defect, Hypertrophic cardiomyopathy, Left ventricular hypertrophy, Subaortic ventri...	OMIM:612098
Holoprosencephaly-Caudal Dysgenesis Syndrome	Median cleft lip, Microcephaly, Radial club hand, Cleft palate, Holoprosencephaly, Cyclopia	ORPHA:2165
Aicardi Syndrome	Prominence of the premaxilla, Block vertebrae, Cleft upper lip, Microcephaly, Precocious puberty,...	ORPHA:50
Cowden Syndrome 1	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Thyroiditis, Hemimegalencephaly...	OMIM:158350
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Microcephaly, Cleft upper lip, Precocious puberty, Cleft palate, Hypoplasia of the corpus callosu...	OMIM:300958
Warsaw Breakage Syndrome	Ventricular septal defect, Microcephaly, Hypoplasia of the cochlea, Cupped ear, Wide mouth, High ...	OMIM:613398
Dextrocardia	Dextrocardia, Situs inversus totalis, Abnormality of the spleen, Hydrocephalus, Abnormal renal mo...	ORPHA:1666
Developmental And Epileptic Encephalopathy 80	Increased urine alpha-ketoglutarate concentration, Tented upper lip vermilion, Posteriorly rotate...	OMIM:618580
Heterotaxy, Visceral, 5, Autosomal	Ureteral duplication, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, ...	OMIM:270100
Cowden Syndrome 6	Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Goiter, Thyroiditis, Furrowed tongue, H...	OMIM:615109
Hardikar Syndrome	Atrial septal defect, Vesicoureteral reflux, Patent foramen ovale, Bladder exstrophy, Hepatomegal...	OMIM:301068
Meckel Syndrome, Type 9	Occipital encephalocele, Multicystic kidney dysplasia	OMIM:614209
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Thin upper lip vermilion, Micrognathia, Cryptorchidism, Deep philtrum, Cleft palate, Downturned c...	ORPHA:404440
Nager Syndrome	Low-set, posteriorly rotated ears, Unilateral renal agenesis, Micrognathia, Hypoplasia of the max...	ORPHA:245
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal jugular vein morphology, Cardiomegaly, Right ventricular hypertrophy, Abno...	ORPHA:1677
Mosaic Trisomy 16	Ventricular septal defect, Hypospadias, Maternal diabetes, Abnormality of the nose, Large placent...	ORPHA:1708
Pontocerebellar Hypoplasia Type 1	Respiratory failure, Congenital laryngeal stridor	ORPHA:2254
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
X-Linked Intellectual Disability, Nascimento Type	Hypointensity of cerebral white matter on MRI, Hypoplasia of the pons, Deep philtrum, Downturned ...	ORPHA:163956
Meier-Gorlin Syndrome 4	Microcephaly, Hypoplasia of the maxilla, Micrognathia, Cryptorchidism, Thick lower lip vermilion,...	OMIM:613804
Adenohypophysitis	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:95512
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Joint laxity, Corneal opacity, Isosexual precocious puberty, Osteoporosis, Increased ...	ORPHA:2788
Relapsing Polychondritis	Atelectasis, Dyspnea, Erythema, Cough, Abnormal pattern of respiration, Purpura	ORPHA:728
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Upli...	ORPHA:261537
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv...	ORPHA:536467
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cerebellar vermis hypoplasia, Cerebral calcification, Cardiomegaly, High, narrow palate, Red-brow...	ORPHA:228308
Methimazole Embryofetopathy	Ventricular septal defect, Choanal atresia, Hypospadias, Abnormality of the thyroid gland, Coarct...	ORPHA:1923
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Camptodactyly of finger, Micrognathia, Narrow palate, Abnormal calvaria morphology, Biparietal na...	ORPHA:1323
Neurooculocardiogenitourinary Syndrome	Bilateral cryptorchidism, Downturned corners of mouth, Coloboma, Secondary microcephaly, Peters a...	OMIM:618652
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia, Conductive hearing impairment, Vesicoureteral reflux, Atrial sep...	OMIM:157800
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Osteopenia, Thin upper lip vermilion, Streak ovary, Hypergonadotropic hypogonadism, Microcephaly,...	ORPHA:2232
Wiedemann-Rautenstrauch Syndrome	Optic disc hypoplasia, Decreased response to growth hormone stimulation test, Congenital malforma...	ORPHA:3455
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Micrognathia, Hydrocephalus, Wide mouth, Short philtrum, Microphthalmia	ORPHA:163966
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, ...	OMIM:265000
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Microphthalmia, Isolated 5	Microphthalmia, Cataract	OMIM:611040
Nephronophthisis 2	Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:602088
Cardiomyopathy, Dilated, 1D	Left ventricular hypertrophy, Dilated cardiomyopathy, Left ventricular noncompaction	OMIM:601494
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus, Cerebral calcification, Microcephaly	ORPHA:858
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Renal Dysplasia	Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure...	ORPHA:93108
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome	Microcephaly, Cleft palate, High palate, Overfolded helix, Polymicrogyria, Hydronephrosis, Limb h...	ORPHA:488613
Presynaptic Congenital Myasthenic Syndromes	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:98914
Congenital Myasthenic Syndrome	Recurrent respiratory infections, Cyanosis, Sudden episodic apnea, Intermittent episodes of respi...	ORPHA:590
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Pancytopenia, Dilated cardiomyopathy, Cerebral atrophy, Abnormal cerebral white matter morphology...	OMIM:618321
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Apnea, Central hypoventilation	OMIM:618233
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Short lingual frenulum, Flexion contracture, Lateral ventricle dilatation, Widely spaced teeth, S...	OMIM:619479
Kabuki Syndrome 1	Premature thelarche, Micrognathia, Protruding ear, High palate, Atrial septal defect, Micropenis,...	OMIM:147920
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Wide nose, Anophthalmia, Anteverted nares, Microcephaly, Wide nasal bridge, Protruding ear, Panni...	ORPHA:2526
Diaphanospondylodysostosis	Myelomeningocele, Multiple renal cysts, Cleft palate	ORPHA:66637
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure	OMIM:610678
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Joint laxity, Exaggerated cupid's bow, Supernumerary nipple, Microcephaly, Cleft lip, Deep philtr...	OMIM:620098
Spastic Paraplegia 52, Autosomal Recessive	Facial hypotonia, Microcephaly, Prominent nose, Bulbous nose, Flexion contracture, Wide nasal bri...	OMIM:614067
Yellow Nail Syndrome	Recurrent respiratory infections, Sinusitis, Dyspnea, Bronchiectasis, Neoplasm of the lung, Rhini...	ORPHA:662
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormality of the philtrum, Cleft upper lip, Cleft palate, Hypodontia, Microdontia, Malar flatte...	OMIM:225060
Endocrine-Cerebroosteodysplasia	Natal tooth, Median cleft lip, Bilateral cleft lip, Absent septum pellucidum, Micrognathia, Focal...	OMIM:612651
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Micrognathia, Aqueductal stenosis, Conductive hearing impairment...	OMIM:154400
Restrictive Dermopathy	Ureteral duplication, Multiple joint contractures, Micrognathia, Atrial septal defect, Aplasia/Hy...	ORPHA:1662
Endove Syndrome, Limb-Brain Type	Neurogenic bladder, Recurrent urinary tract infections, Microcephaly, Hypoplasia of the brainstem...	OMIM:619218
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Decreased res...	OMIM:129900
Manitoba Oculotrichoanal Syndrome	Omphalocele, Anophthalmia, Broad nasal tip, Bifid nasal tip, Microphthalmia	OMIM:248450
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome	Decreased response to growth hormone stimulation test, Sensorineural hearing impairment, Prelingu...	ORPHA:436174
Dentici-Novelli Neurodevelopmental Syndrome	Thin upper lip vermilion, Prominent nasal bridge, Microcephaly, Precocious puberty, Simplified gy...	OMIM:619877
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cataract, Cleft lip, Deep philtrum, Cleft palate, Downturned corners of mouth,...	OMIM:618571
Ablepharon-Macrostomia Syndrome	Ventral hernia, Omphalocele, Microtia, third degree, Abnormal nasal morphology, Microtia, first d...	OMIM:200110
Zimmermann-Laband Syndrome	Hepatomegaly, Wide nose, Micrognathia, Splenomegaly, Supernumerary tooth, Bulbous nose, Sensorine...	ORPHA:3473
Joubert Syndrome 7	Encephalocele, Stage 5 chronic kidney disease, Renal cyst, Hypoplasia of the brainstem, Nephronop...	OMIM:611560
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean	OMIM:604320
3-Methylglutaconic Aciduria Type 7	Renal insufficiency, Neutropenia, Abnormal basal ganglia morphology, Cerebral atrophy, Renal cyst...	ORPHA:445038
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Urethral stricture, Urinary incontinence, Long nose, Downturned corners of mouth, High palate, At...	OMIM:619522
Epiphyseal Dysplasia, Multiple, With Myopia And Conductive Deafness	Conductive hearing impairment, Narrow mouth	OMIM:132450
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Pulmonary hypoplasia, Pulmonary...	ORPHA:3309
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Mowat-Wilson Syndrome	Mandibular prognathia, Cerebellar vermis hypoplasia, Bicuspid aortic valve, Dental crowding, Upli...	ORPHA:2152
X-Linked Intellectual Disability, Wilson Type	Mandibular prognathia, Inguinal hernia, Microcephaly, Brachycephaly, Wide mouth, Hydrocele testis...	ORPHA:85290
Adnp Syndrome	Joint laxity, Thin upper lip vermilion, Microcephaly, Cryptorchidism, Thick lower lip vermilion, ...	ORPHA:404448
Hutchinson-Gilford Progeria Syndrome	Dental crowding, Short lingual frenulum, Micrognathia, Intracranial hemorrhage, High palate, Cond...	ORPHA:740
Noonan Syndrome 5	Mandibular prognathia, Depressed nasal bridge, Thickened helices, Cryptorchidism, Wide mouth, Thi...	OMIM:611553
8P11.2 Deletion Syndrome	Hypogonadotropic hypogonadism, Microcephaly, Micrognathia, Cryptorchidism, Microcornea, High pala...	ORPHA:251066
Monosomy 22	Low-set, posteriorly rotated ears, Wide nose, Aplasia of the thymus, Microcephaly, Hypochromic mi...	ORPHA:96123
Pituitary Deficiency Due To Rathke Cleft Cysts	Enlarged pituitary gland, Hypopituitarism, Hypogonadotropic hypogonadism, Diabetes insipidus, Hyd...	ORPHA:91350
Nicolaides-Baraitser Syndrome	Narrow nasal bridge, Anteverted nares, Microcephaly, High, narrow palate, Cryptorchidism, Wide mo...	ORPHA:3051
Bardet-Biedl Syndrome 1	Decreased testicular size, Diabetes mellitus, Dental crowding, Abnormality of the kidney, Nephrog...	OMIM:209900
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Respiratory insufficiency due to muscle weakness, Dyspnea, Respiratory failure	ORPHA:352447
Peroxisome Biogenesis Disorder 5A (Zellweger)	Micrognathia, Renal cyst, High palate, Atrial septal defect, Pachygyria, Agenesis of corpus callo...	OMIM:614866
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Calcinosis, Micrognathia, Microcephaly, Splenomegaly, Renal hypoplasia, Nephrocalcinosis, Aminoac...	OMIM:617913
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Pericallosal lipoma, Cataract, Camptodactyly of finger, Hypoplasia of the maxilla, Cleft palate, ...	ORPHA:306542
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Respiratory failure	ORPHA:363400
Branchiootic Syndrome 3	Lacrimal duct stenosis	OMIM:608389
Craniopharyngioma	Enlarged pituitary gland, Cerebral calcification, Hypogonadotropic hypogonadism, Neoplasm of the ...	ORPHA:54595
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Orofaciodigital Syndrome V	Thin upper lip vermilion, Median cleft lip, Unilateral cryptorchidism, Hamartoma of tongue, Micro...	OMIM:174300
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Tuberous Sclerosis 2	Cerebral calcification, Hearing impairment, Absence of renal corticomedullary differentiation, Pr...	OMIM:613254
Buerger Disease	Acrocyanosis	ORPHA:36258
Autosomal Dominant Progressive External Ophthalmoplegia	Hyperthyroidism, Diabetes mellitus, Facial palsy, Hearing impairment, Goiter, Quadriceps muscle w...	ORPHA:254892
Congenital Muscular Dystrophy, Ullrich Type	Respiratory failure	ORPHA:75840
Gabriele-De Vries Syndrome	Decreased response to growth hormone stimulation test, Micrognathia, High palate, Hypothyroidism,...	ORPHA:506358
Loeys-Dietz Syndrome 5	Decreased muscle mass, Tented upper lip vermilion, Brachycephaly, High palate, Atrial septal defe...	OMIM:615582
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Skeletal muscle atrophy, Cerebellar vermis hypoplasia, Depressed nasal bridge, Abnormality of the...	OMIM:615802
Nphp3-Related Meckel-Like Syndrome	Multicystic kidney dysplasia, Renal dysplasia, Dandy-Walker malformation	ORPHA:3032
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Delayed eruption of teeth, Frontal bossing, Dental crowding, Anteverted nares, Prominent nasal br...	OMIM:618825
Spastic Paraplegia 50, Autosomal Recessive	Mandibular prognathia, Wide nasal ridge, Microcephaly, Bulbous nose, Wide mouth, High palate, Sho...	OMIM:612936
Multiple Pterygium Syndrome, X-Linked	Vertebral fusion, Multiple pterygia, Cleft upper lip, Micrognathia, Flexion contracture, Cleft pa...	OMIM:312150
Baller-Gerold Syndrome	Micrognathia, Brachycephaly, High palate, Choanal stenosis, Conductive hearing impairment, Spina ...	OMIM:218600
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Microcephaly, Cryptorchidism, Thin vermilion border, Narrow mouth, Micropenis	OMIM:612447
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Abnormal lung morphology, Dyspnea, Abnormal lu...	ORPHA:141127
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Respiratory failure	ORPHA:70472
Urofacial Syndrome 1	Recurrent urinary tract infections, Hydroureter, Urethral valve, Cryptorchidism, Urethral obstruc...	OMIM:236730
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Diamond-Blackfan Anemia 21	Microcephaly, Secundum atrial septal defect, Micrognathia, Erythroid hypoplasia, Thrombocytopenia...	OMIM:620072
Intellectual Developmental Disorder, Autosomal Dominant 47	Ventricular septal defect, Prominent nasal bridge, Supernumerary nipple, Microcephaly, Cryptorchi...	OMIM:617635
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Coloboma, Posterior synechiae of the anteri...	OMIM:610256
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Dental crowding, Urinary incontinence, Abnormality of the dentition, Micrognathia, Complete atrio...	ORPHA:476126
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Desbuquois Dysplasia 1	Microretrognathia, Depressed nasal bridge, Narrow mouth, Concave nasal ridge, Long philtrum, Mala...	OMIM:251450
Nanophthalmos 4	Microphthalmia	OMIM:615972
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Optic nerve hypoplasia, Microg...	OMIM:620029
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Mandibular prognathia, Cerebellar vermis hypoplasia, Brachycephaly, Protruding ear, Posterior pla...	OMIM:620330
Martsolf Syndrome 1	Joint laxity, Cataract, Hypogonadotropic hypogonadism, Micrognathia, Hypoplasia of the maxilla, M...	OMIM:212720
Hereditary Acrokeratotic Poikiloderma	Turricephaly, Abnormal renal tubule morphology, Camptodactyly of finger, Premature loss of primar...	ORPHA:2907
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Joint laxity, Iris atrophy, Cataract, Ectopia lentis, Dental malocclusion, Spherophakia, Anterior...	OMIM:601552
Linear Nevus Sebaceus Syndrome	Cerebral calcification, Porencephalic cyst, Aplasia/Hypoplasia of the corpus callosum, Adenoma se...	ORPHA:2612
Eosinophilic Granulomatosis With Polyangiitis	Nasal polyposis, Recurrent intrapulmonary hemorrhage, Cutis marmorata, Abnormal pleura morphology...	ORPHA:183
Xq21 Microdeletion Syndrome	Abnormal chorioretinal morphology, Decreased response to growth hormone stimulation test, Chorior...	ORPHA:1435
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Cerebellar vermis hypoplasia, Cerebral calcification, Hydrocephalus, Rhabdomyolysis...	ORPHA:157
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Micrognathia, Prominent nose, Partial agenesis of the corpus callos...	OMIM:210710
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome	Arthrogryposis multiplex congenita, Non-midline cleft lip, Limitation of joint mobility, Cleft pa...	ORPHA:1484
Faciocardiomelic Dysplasia, Lethal	Microglossia, Retrognathia, Micrognathia, Narrow mouth	OMIM:227270
Odontochondrodysplasia 1	Respiratory distress, Recurrent respiratory infections, Pulmonary hypoplasia, Death in infancy	OMIM:184260
Pallister-Killian Syndrome	Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Flexion contracture, R...	OMIM:601803
Linear Skin Defects With Multiple Congenital Anomalies 3	Delayed eruption of primary teeth, Sclerocornea, Thyroid C cell hyperplasia, Lateral ventricle di...	OMIM:300952
Colonic Atresia	Omphalocele, Abdominal situs inversus, Gastroschisis	ORPHA:1198
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Short lingual frenulum, Hypospadias, Short uvula, Renal hypoplasia, Cleft palate, Agenesis of per...	OMIM:614091
Acro-Renal-Ocular Syndrome	Vertebral fusion, Cataract, Optic disc hypoplasia, Radial club hand, Optic disc coloboma, Microco...	ORPHA:959
Deafness-Lymphedema-Leukemia Syndrome	Recurrent respiratory infections, Respiratory failure, Bruising susceptibility	ORPHA:3226
Meier-Gorlin Syndrome 3	Microretrognathia, Posteriorly rotated ears, Prominent nasal bridge, Hypospadias, Micrognathia, H...	OMIM:613803
Oculocerebrorenal Syndrome Of Lowe	Mandibular prognathia, Hyperparathyroidism, Flat occiput, Dental crowding, Micrognathia, Deep phi...	ORPHA:534
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Restrictive ventilatory defect, Respiratory failure	OMIM:606612
Dubowitz Syndrome	Abnormality of neutrophils, Micrognathia, Protruding ear, High palate, Spina bifida occulta, Low-...	ORPHA:235
Loeys-Dietz Syndrome 4	Torticollis, Inguinal hernia, Bicuspid aortic valve, Arterial tortuosity, Dolichocephaly, High, n...	OMIM:614816
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Renal cyst	OMIM:174050
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Mandibular prognathia, Microcephaly, Abnormal zygomatic bone morphology, Unilateral cleft lip, Ma...	ORPHA:2511
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Bilateral microphthalmos, Latera...	ORPHA:77299
Gracile Bone Dysplasia	Death in infancy, Hydrocephalus, Aniridia, Microphthalmia, Decreased skull ossification, Ankylogl...	OMIM:602361
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Exaggerated cupid's bow, Sclerocornea, Micrognathia, Cryptorchidism, Cleft palate, Down...	OMIM:614230
Urofacial Syndrome 2	Renal insufficiency, Recurrent urinary tract infections, Bladder trabeculation, Spastic/hyperacti...	OMIM:615112
Vascular Ehlers-Danlos Syndrome	High, narrow palate, Abnormality of the gingiva, Gingivitis, Protruding ear, Periodontitis, Micro...	ORPHA:286
Mohr Syndrome	Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Hydrocephalus...	OMIM:252100
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Congenital Rubella Syndrome	Cataract, Corneal opacity, Microcephaly, Aplasia/Hypoplasia of the iris, Type I diabetes mellitus...	ORPHA:290
Frontometaphyseal Dysplasia	Micrognathia, Oligodontia, Conductive hearing impairment, Spina bifida occulta, Wrist flexion con...	ORPHA:1826
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Cataract, Cleft soft palate, Decreased response to growth hormone stimulation test, Microcephaly,...	ORPHA:268261
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Car T Cell Therapy-Associated Cytokine Release Syndrome	Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema	ORPHA:542323
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Respiratory failure	OMIM:613954
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Tented upper lip vermilion, Corneal opacity, Exaggerated cupid's bow, Abnormality of canine, Micr...	ORPHA:364577
Oculodentodigital Dysplasia	Mandibular prognathia, Cataract, Median cleft lip, Camptodactyly of finger, Abnormal dental ename...	ORPHA:2710
Mercury Poisoning	Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure	ORPHA:330021
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type	Hypointensity of cerebral white matter on MRI, Depressed nasal bridge, Horseshoe kidney, Downturn...	OMIM:300860
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Microphthalmia, Shallow anterior chamber	OMIM:267760
Atrial Septal Defect, Ostium Primum Type	Recurrent respiratory infections, Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physi...	ORPHA:99106
Zygomycosis	Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Pulmonary infiltrates, Acute infectious pneumoni...	ORPHA:73263
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia	Cryptorchidism, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, Spina bifida occulta, H...	OMIM:618060
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Conical tooth, Persistence of primary teeth, Dental malocclusion, Oligodontia, Ectopia ...	OMIM:618727
Meckel Syndrome, Type 3	Hepatomegaly, Occipital encephalocele, Multicystic kidney dysplasia, Hydrocephalus, Cleft palate,...	OMIM:607361
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Depressed nasal bridge, Hearing impairment, Cleft upper lip, Micrognathia, Adrenal hypoplasia, Un...	OMIM:308050
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Pulmonary hypoplasia, Neonatal death	OMIM:231680
Autoimmune Polyendocrinopathy Type 3	Osteopenia, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Iridocyclitis, Primary...	ORPHA:227982
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Arthrogryposis And Ectodermal Dysplasia	Diabetes mellitus, Abnormal dental enamel morphology, Cleft upper lip, Microcephaly, Orofacial cl...	OMIM:601701
Restrictive Dermopathy 1	Natal tooth, Ureteral duplication, Limb joint contracture, Depressed nasal bridge, Narrow nasal r...	OMIM:275210
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Frontal bossing, Inguinal hernia, Hydroureter, Camptodactyly of finger, Abnormal den...	ORPHA:2273
Hydranencephaly	Dysgenesis of the thalamus, Stiff neck, Optic nerve hypoplasia, Chorioretinal atrophy, Thalamic e...	ORPHA:2177
Cerebrooculofacioskeletal Syndrome 4	Camptodactyly of finger, Micrognathia, Microcephaly, Bilateral microphthalmos, Elbow flexion cont...	OMIM:610758
Trisomy 9P	Dental crowding, Microcephaly, Abnormal pupil morphology, Non-midline cleft lip, Impacted tooth, ...	ORPHA:236
Meacham Syndrome	Hypoplasia of penis, Crossed fused renal ectopia, Ventricular septal defect, Congenital diaphragm...	ORPHA:3097
Autosomal Recessive Amelia	Cryptorchidism, Non-midline cleft lip, Orofacial cleft, Micrognathia	ORPHA:1027
Acrofrontofacionasal Dysostosis 1	Mandibular prognathia, Iris atrophy, Cleft upper lip, Cleft palate, Wide mouth, Oligodontia, Micr...	OMIM:201180
Diamond-Blackfan Anemia 6	Micrognathia, Cleft upper lip, Cleft palate, Tracheomalacia, Retrognathia, Bifid uvula	OMIM:612561
Meckel Syndrome, Type 11	Occipital encephalocele, Polycystic kidney dysplasia	OMIM:615397
Nance-Horan Syndrome	Diastema, Developmental cataract, Microcornea, Mulberry molar, Posterior Y-sutural cataract, Supe...	OMIM:302350
Martin-Probst Syndrome	Pancytopenia, Renal insufficiency, Proteinuria, Micrognathia, Microcephaly, Cryptorchidism, Senso...	OMIM:300519
Williams Syndrome	Hypoplasia of penis, Bicuspid aortic valve, Abnormal cerebral vascular morphology, Cardiomegaly, ...	ORPHA:904
Zechi-Ceide Syndrome	Malar flattening, Oligodontia, Cleft palate, Cleft upper lip	OMIM:612916
Wiskott-Aldrich Syndrome	Hemolytic anemia, Glomerulopathy, Sinusitis, Abnormal eosinophil morphology, Epistaxis, Microcyti...	ORPHA:906
Mitochondrial Trifunctional Protein Deficiency	Hypoparathyroidism, Rhabdomyolysis, Cardiomyopathy, Skeletal myopathy, Left ventricular hypertrop...	ORPHA:746
19Q13.11 Microdeletion Syndrome	Ventricular septal defect, Hypospadias, Supernumerary nipple, Microcephaly, Underdeveloped nasal ...	ORPHA:217346
Alazami Syndrome	Wide nose, Wide mouth, Thick vermilion border, Short philtrum, Widely spaced teeth, Low-set ears,...	ORPHA:319671
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Anomalous pulmonary venous...	ORPHA:99104
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Central apnea, Respiratory distress, Respiratory failure, Palmoplantar cutis laxa, Neonatal death...	OMIM:616482
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Pancreatic adenocarcinoma, Hurthle cell thyroid adenoma, Nephrolithiasis, Pa...	OMIM:145001
Autoimmune Polyendocrinopathy Type 4	Osteopenia, Hypergonadotropic hypogonadism, Iridocyclitis, Primary adrenal insufficiency, Anterio...	ORPHA:227990
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Cryptorchidism, Hypogonadism, Retinal coloboma, Microphthalmia	ORPHA:363741
Seckel Syndrome 2	Microcephaly, Micrognathia, Microdontia, Microphthalmia, Microglossia	OMIM:606744
Joubert Syndrome 22	Microphthalmia, Coloboma, Temporal cortical atrophy, Hypoplasia of the corpus callosum	OMIM:615665
Juvenile Polyposis Of Infancy	Refractory anemia, Frontal bossing, Depressed nasal bridge, Subcutaneous lipoma, High, narrow pal...	ORPHA:79076
Gand Syndrome	Thin upper lip vermilion, Broad nasal tip, Wide nasal bridge, Wide mouth, Short philtrum	OMIM:615074
Ventriculomegaly With Cystic Kidney Disease	Renal insufficiency, Ventricular septal defect, Hydrocephalus, Tubular luminal dilatation, Renal ...	OMIM:219730
Oeis Complex	Duplicated collecting system, Omphalocele, Hydroureter, Renal agenesis, Cryptorchidism, Myelomeni...	OMIM:258040
Hemifacial Microsomia With Radial Defects	Short mandibular rami, Non-midline cleft lip, Cleft palate, Orofacial cleft	OMIM:141400
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2	Skeletal muscle atrophy, Depressed nasal bridge, Hypospadias, Downturned corners of mouth, Wide m...	OMIM:619759
Congenital Disorder Of Glycosylation, Type Ib	Hepatomegaly, Renal cyst, Proximal tubulopathy, Hyperinsulinemic hypoglycemia, Lymphangiectasis	OMIM:602579
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra...	OMIM:617914
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Bronchitis, Neonatal asphyxia, Erythema, Recurrent pneumo...	ORPHA:420741
Hyperparathyroidism, Transient Neonatal	Communicating hydrocephalus, Frontal bossing, Hyperparathyroidism, Inguinal hernia, Anteverted na...	OMIM:618188
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Omphalocele, Frontal bossing, Wide nose, Hypoplasia of penis, Depressed nasal bridge, Urethrovagi...	ORPHA:93271
X-Linked Acrogigantism	Enlarged pituitary gland, Decreased thyroid-stimulating hormone level, Elevated circulating growt...	ORPHA:300373
Blepharocheilodontic Syndrome 1	Neural tube defect, Hypodontia, Cleft upper lip, Conical tooth	OMIM:119580
Bardet-Biedl Syndrome	Low-set, posteriorly rotated ears, Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidn...	ORPHA:110
Fetal Akinesia Deformation Sequence 1	Decreased muscle mass, Elbow contracture, Micrognathia, High, narrow palate, Congenital contractu...	OMIM:208150
Nail-Patella Syndrome	Keratoconus, Cataract, Spina bifida, Cleft upper lip, Antecubital pterygium, Cleft palate, Microc...	OMIM:161200
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Flat occiput, Anteverted nares, Depressed nasal bridge, Protruding tongue, Gingival overgrowth, C...	OMIM:618797
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Hinman Syndrome	Renal insufficiency, Recurrent urinary tract infections, Enuresis, Vesicoureteral reflux, Hydrone...	ORPHA:84085
Sick Sinus Syndrome 2	Left ventricular hypertrophy, Left ventricular noncompaction, Mitral valve prolapse	OMIM:163800
Chromosome 17Q12 Duplication Syndrome	Cleft soft palate, Micrognathia, Peters anomaly, Microphthalmia, Smooth philtrum	OMIM:614526
Oculotrichoanal Syndrome	Cryptophthalmos, Upper eyelid coloboma, Nasolacrimal duct obstruction	ORPHA:2717
Campomelic Dysplasia	Irregular dentition, Micrognathia, Depressed nasal ridge, High palate, Conductive hearing impairm...	OMIM:114290
Meier-Gorlin Syndrome 1	Frontal bossing, Incomplete partition of the cochlea type II, Micrognathia, Hypoplasia of the max...	OMIM:224690
Intellectual Developmental Disorder, Autosomal Dominant 29	Thin upper lip vermilion, Frontal bossing, Wide nose, Dental crowding, Hearing impairment, Crypto...	OMIM:616078
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Cerebral calcification, Hydrocephalus, Buphthalmos, Hypoplasia of the corpus callosum, ...	OMIM:616538
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Trichothiodystrophy 3, Photosensitive	Natal tooth, Cataract, Carious teeth, Bilateral cryptorchidism, Developmental cataract, Eclabion,...	OMIM:616395
Tuberous Sclerosis Complex	Pancreatic endocrine tumor, Cortical dysplasia, Renal cyst, Pheochromocytoma, Carcinoid tumor, Ab...	ORPHA:805
Trisomy X	Multicystic kidney dysplasia, Renal hypoplasia/aplasia	ORPHA:3375
Papillorenal Syndrome	Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d...	OMIM:120330
Developmental And Epileptic Encephalopathy 6B	Narrow mouth	OMIM:619317
Alg1-Cdg	Respiratory failure	ORPHA:79327
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Anteverted nares, Protruding tongue,...	OMIM:213300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatomegaly, Renal insufficiency, Hepatic cysts, Absence of renal corticomedullary differentiati...	OMIM:263200
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Acrofrontofacionasal Dysostosis	Camptodactyly of finger, Brushfield spots, Non-midline cleft lip, Cleft palate, Everted lower lip...	ORPHA:1784
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 2	Cavum septum pellucidum, Bilateral cleft lip	OMIM:616994
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Micrognathia, Cryptorchidism, Non-midline cleft lip, Abnormality of the parath...	ORPHA:3429
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Attached earlobe, Deep philtrum, Knee flexion contracture, Hypoplasia of the iris, Microdontia, A...	OMIM:619194
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Bladder Dysfunction, Autonomic, With Impaired Pupillary Reflex And Secondary Cakut	Neurogenic bladder, Recurrent urinary tract infections, Hypospadias, Stage 2 chronic kidney disea...	OMIM:191800
Blepharonasofacial Malformation Syndrome	Cryptorchidism, Non-midline cleft lip, Cleft palate, Tooth agenesis, Joint hyperflexibility, Long...	ORPHA:1252
Alagille Syndrome 1	Long nose, Multiple small medullary renal cysts, Papillary thyroid carcinoma, Vesicoureteral refl...	OMIM:118450
Epidermolysis Bullosa Simplex With Pyloric Atresia	Renal dysplasia, Oral mucosal blisters, Abnormality of the urethra, Scarring alopecia of scalp, F...	ORPHA:158684
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Ureteral stenosis, Anteverted nares, Depressed nasal bridge, Hyp...	OMIM:269150
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome	Thin upper lip vermilion, Frontal bossing, Depressed nasal bridge, Optic nerve hypoplasia, Hyposp...	ORPHA:363686
Van Esch-O'Driscoll Syndrome	Ventricular septal defect, Depressed nasal bridge, Hypogonadotropic hypogonadism, Microcephaly, P...	OMIM:301030
Klippel-Feil Syndrome 2, Autosomal Recessive	Cervical C2/C3 vertebral fusion, Fused cervical vertebrae, Cleft palate, Cleft upper lip	OMIM:214300
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Bainbridge-Ropers Syndrome	Dental crowding, Micrognathia, Contracture of the proximal interphalangeal joint of the 4th finge...	OMIM:615485
Fanconi Anemia, Complementation Group S	Macrodontia, Microcephaly, Dental malocclusion, Narrow palate, Ovarian neoplasm, Ovarian carcinom...	OMIM:617883
Kaposiform Lymphangiomatosis	Epidural hemorrhage, Epistaxis, Pericardial effusion, Splenomegaly, Thrombocytopenia, Pancreatic ...	ORPHA:464329
Orofaciodigital Syndrome Ix	Median cleft lip, Accessory oral frenulum, Abnormality of the dentition, Microcephaly, Cleft pala...	OMIM:258865
2Q23.1 Microduplication Syndrome	Thin upper lip vermilion, Dental crowding, Prominent nose, Abnormality of the dentition, Bulbous ...	ORPHA:313947
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Campomelia, Cumming Type	Hepatomegaly, Multicystic kidney dysplasia, Pancreatic cysts, Cleft palate, Multiple renal cysts,...	ORPHA:1318
Igg4-Related Kidney Disease	Lymphadenitis, Renal interstitial immunoglobulin deposits, Sterile pyuria, Tubulointerstitial nep...	ORPHA:449395
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Micrognathia, Underdeveloped nasal alae, Mitral valve prolapse, Wide mouth, Thick vermilion borde...	OMIM:300986
Pettigrew Syndrome	Mandibular prognathia, Thickened calvaria, Cerebellar vermis hypoplasia, Cerebral calcification, ...	OMIM:304340
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Anteverted nares, Posteriorly rotated ears, Micrognathia, Wide nasal bridge, Wide mouth, Oligodon...	OMIM:602562
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Polycystic Kidney Disease 3 With Or Without Polycystic Liver Disease	Dilatation of the cerebral artery, Hepatic cysts, Polycystic kidney dysplasia	OMIM:600666
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Abnormal dental morphology, Abnormal dental enamel morphology, Cleft upper lip, Abnormality of th...	ORPHA:3253
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome	Hypoparathyroidism, Renal dysplasia, Renal insufficiency, Diabetes mellitus, Unilateral renal age...	ORPHA:2237
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Absence of Stensen duct, Selective tooth agenesis, Decreased res...	OMIM:604292
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Cerebellar vermis hypoplasia, Anteverted nares, Optic nerve hypoplasia, Depressed nasal bridge, M...	ORPHA:495875
Autosomal Recessive Spastic Paraplegia Type 20	Skeletal muscle atrophy, Dysuria, Microcephaly, Prominent nose, Upper limb muscle weakness, Dista...	ORPHA:101000
Intellectual Developmental Disorder, Autosomal Dominant 57	Thin upper lip vermilion, Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Mic...	OMIM:618050
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Intellectual Developmental Disorder, Autosomal Dominant 39	Hydrocephalus, Wide nasal bridge, Cerebral atrophy, Wide mouth, Wide nasal base, Thin corpus call...	OMIM:616521
Fetal Hydantoin Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Microcephaly, Cryptorchidism, Depre...	ORPHA:1912
Nijmegen Breakage Syndrome	Autoimmune hemolytic anemia, Sinusitis, Recurrent urinary tract infections, Choanal atresia, Rhab...	OMIM:251260
Chiari Malformation Type Ii	Cyanosis, Inspiratory stridor	OMIM:207950
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Selective tooth agenesis, Supernumerary nipple, Cleft upper lip, Conical tooth, Hypoplasia of the...	OMIM:106260
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Cutaneous leiomyosarcoma, Renal cyst, Multiple lipomas, Renal cell carcinoma	OMIM:135150
Mucopolysaccharidosis, Type Iva	Mandibular prognathia, Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Grayish en...	OMIM:253000
Postaxial Acrofacial Dysostosis	Camptodactyly of finger, Supernumerary nipple, Micrognathia, Non-midline cleft lip, Cleft palate,...	ORPHA:246
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Van Der Woude Syndrome 2	Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia	OMIM:606713
Vater/Vacterl Association	Renal dysplasia, Occipital encephalocele, Abnormal nasopharynx morphology, Ventricular septal def...	OMIM:192350
Degcags Syndrome	Micrognathia, Prominent nose, Bilateral renal hypoplasia, Leukopenia, Iron deficiency anemia, Hig...	OMIM:619488
Nasopalpebral Lipoma-Coloboma Syndrome	Cataract, Corneal opacity, Microcephaly, Hypoplasia of the maxilla, Bilateral microphthalmos, Col...	ORPHA:2399
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Microphthalmia, Limitation of joint mobility, Camptodactyly of finger, Micrognathia	ORPHA:2547
Orofaciodigital Syndrome Viii	Median cleft lip, High palate, Cleft palate	OMIM:300484
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Apnea	OMIM:261680
Encephalopathy, Ethylmalonic	Death in infancy, Acrocyanosis, Petechiae	OMIM:602473
Ochoa Syndrome	Recurrent urinary tract infections, Renal insufficiency, Urinary incontinence, Cryptorchidism, Ur...	ORPHA:2704
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Anterior pituitary hypoplasia, Elbow flexion contracture, Hypodontia...	OMIM:181450
Trichothiodystrophy 5, Nonphotosensitive	Mandibular prognathia, Optic nerve hypoplasia, Microcephaly, Wide mouth, Progressive microcephaly...	OMIM:300953
Amyotrophic Lateral Sclerosis	Dyspnea, Respiratory failure, Abnormal respiratory system physiology	ORPHA:803
Hereditary Xanthinuria	Crystalluria, Recurrent urinary tract infections, Xanthine nephrolithiasis, Xanthinuria, Hydronep...	ORPHA:3467
Systemic Sclerosis	Pericarditis, Renal insufficiency, Proteinuria, Abnormality of the kidney, Glomerulonephritis, My...	ORPHA:90291
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	Wide mouth, Abnormality of mouth shape, Underdeveloped tragus	ORPHA:83619
Coffin-Siris Syndrome 11	Frontal bossing, Depressed nasal bridge, Cleft soft palate, Uplifted earlobe, Bulbous nose, Downt...	OMIM:618779
Ring Chromosome 10 Syndrome	Microphthalmia, Thin vermilion border, Micrognathia, Long philtrum	ORPHA:1438
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features	Micrognathia, Long nose, Cleft palate, Protruding ear, High palate, Low-set ears, Narrow mouth, R...	OMIM:301091
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Prominent nasal bridge, Precocious puberty, Moderate albuminuria, Sensorineural hearing impairmen...	OMIM:619269
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Thin upper lip vermilion, Inguinal hernia, Anteverted nares, Diastasis recti, Uplifted earlobe, M...	OMIM:618548
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Omenn Syndrome	Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop...	OMIM:603554
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal flaring, Abnormal respiratory ...	ORPHA:90051
Trichohepatoneurodevelopmental Syndrome	Dental crowding, Brachycephaly, Downturned corners of mouth, High palate, Widely spaced teeth, Mi...	OMIM:618268
Heterotaxy, Visceral, 2, Autosomal	Dextrocardia, Microcephaly, Situs inversus totalis, Atrioventricular canal defect, Asplenia, Left...	OMIM:605376
Oculo-Palato-Cerebral Syndrome	Cataract, Remnants of the hyaloid vascular system, Microcephaly, High, narrow palate, Leukocoria,...	ORPHA:2714
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Intercostal muscle weakness	OMIM:606071
Cantú Syndrome	Abnormal heart valve morphology, Anteverted nares, Cardiomegaly, Patent ductus arteriosus, Wide n...	ORPHA:1517
Subaortic Stenosis-Short Stature Syndrome	Micrognathia, Type II diabetes mellitus, Microdontia, Microphthalmia, Synostosis of carpal bones	ORPHA:3191
Van Der Woude Syndrome 1	Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Bifid uvula	OMIM:119300
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities	Hypoplastic nipples, Nasolacrimal duct obstruction	OMIM:273400
Orofaciodigital Syndrome Xvii	High, narrow palate, Median cleft lip, Retrognathia	OMIM:617926
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Hydrocephalus, Cleft palate, Stroke-like e...	ORPHA:137675
Multiple Benign Circumferential Skin Creases On Limbs	Micrognathia, Microcephaly, Cryptorchidism, Cleft palate, Microcornea, Long philtrum, Microphthalmia	ORPHA:2505
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Moebius Syndrome	Decreased testicular size, Hypogonadotropic hypogonadism, Abnormality of the dentition, Micrognat...	OMIM:157900
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Jaundice, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest	OMIM:617248
Combined Immunodeficiency-Enteropathy Spectrum	Omphalocele, Autoimmune hemolytic anemia, Ventricular septal defect, Hypoplasia of the thymus, Ty...	ORPHA:436252
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, Micrognathia, Wide nasal bridge, Cleft palate, High palate, Hyp...	ORPHA:989
Multiple Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Scapular winging, Skeletal muscle atrophy, Depressed nasal bridge, Abnormal pinna m...	ORPHA:26791
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Roberts Syndrome	Cataract, Progressive flexion contractures, Craniosynostosis, Cleft upper lip, Micrognathia, Micr...	ORPHA:3103
Warburg Micro Syndrome 2	Cataract, Microcephaly, Cryptorchidism, Flexion contracture, Developmental cataract, Microcornea,...	OMIM:614225
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Mandibular prognathia, Optic disc hypoplasia, Abnormality of the kidney, Abnormality of canine, M...	ORPHA:261584
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures	Broad jaw, Bicuspid aortic valve, Exaggerated cupid's bow, Micrognathia, Bulbous nose, Wide mouth...	OMIM:614501
Mandibuloacral Dysplasia With Type B Lipodystrophy	Calcinosis, Abnormality of the dentition, Micrognathia, Delayed puberty, Generalized lipodystroph...	ORPHA:90154
Roberts-Sc Phocomelia Syndrome	Micrognathia, Brachycephaly, Knee flexion contracture, High palate, Atrial septal defect, Wrist f...	OMIM:268300
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Knobloch Syndrome 1	Duplicated collecting system, Occipital encephalocele, Depressed nasal bridge, Absent septum pell...	OMIM:267750
Faciodigitogenital Syndrome, Autosomal Recessive	Inguinal hernia, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Trismus, Dee...	OMIM:227330
Ritscher-Schinzel Syndrome 4	Cryptorchidism, Brachycephaly, Narrow palate, Wide nasal bridge, Wide mouth, Plagiocephaly, Thick...	OMIM:619435
Scalp-Ear-Nipple Syndrome	Mandibular prognathia, Cataract, Developmental cataract, Anisocoria, Agenesis of permanent teeth,...	OMIM:181270
Spinocerebellar Ataxia Type 1	Respiratory failure	ORPHA:98755
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax, Pulmonary edema	OMIM:617300
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Wide nose, Everted upper lip vermilion, Anteverted nares, Craniosynostosis, Wide mouth, Microtia,...	OMIM:619056
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Thin upper lip vermilion, Cerebellar vermis hypoplasia, Depressed nasal bridge, Posteriorly rotat...	OMIM:618590
Lymphedema-Distichiasis Syndrome	Cleft upper lip, Micrognathia, Cleft palate, Conjunctivitis, Recurrent corneal erosions, Micropht...	OMIM:153400
Metatropic Dysplasia	Respiratory failure, Respiratory insufficiency	OMIM:156530
Adenylosuccinase Deficiency	Thin upper lip vermilion, Skeletal muscle atrophy, Anteverted nares, Microcephaly, Brachycephaly,...	OMIM:103050
Chondrodysplasia Punctata 2, X-Linked Dominant	Frontal bossing, Abnormal pinna morphology, Concave nasal ridge, Microphthalmia, Malar flattening...	OMIM:302960
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Short Stature And Microcephaly With Genital Anomalies	Microcephaly, Prominent nose, Narrow mouth, Phimosis, Delayed thelarche, Delayed puberty, Micrope...	OMIM:618702
Dystonia-Deafness Syndrome 1	Cataract, Cleft palate, Cleft upper lip	OMIM:607371
Momo Syndrome	Delayed eruption of teeth, Abnormality of the thyroid gland, Thick lower lip vermilion, Dental ma...	ORPHA:2563
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Congenital Multicore Myopathy With External Ophthalmoplegia	Abnormal respiratory system physiology, Recurrent respiratory infections, Respiratory failure, Pn...	ORPHA:98905
Acrofacial Dysostosis, Palagonia Type	Micrognathia, High, narrow palate, Supernumerary tooth, Oligodontia, Unilateral cleft lip, Malar ...	ORPHA:1787
Tetraamelia Syndrome 1	Cataract, Cleft upper lip, Micrognathia, Hydrocephalus, Cleft palate, Adrenal gland agenesis, Mic...	OMIM:273395
Loeys-Dietz Syndrome 2	Bicuspid aortic valve, Micrognathia, Descending thoracic aorta aneurysm, Bicuspid pulmonary valve...	OMIM:610168
Bosma Arhinia Microphthalmia Syndrome	Inguinal hernia, Paranasal sinus hypoplasia, Abnormal pinna morphology, Choanal atresia, Absent t...	OMIM:603457
Sarcoidosis	Dacryocystitis, Enlarged lacrimal glands, Enlargement of parotid gland, Abnormal conjunctiva morp...	ORPHA:797
Multisystemic Smooth Muscle Dysfunction Syndrome	Aortic arch aneurysm, Thoracic aortic aneurysm, Brachiocephalic artery aneurysm, Cryptorchidism, ...	OMIM:613834
Fanconi Anemia, Complementation Group G	Microphthalmia, Microcephaly	OMIM:614082
Cutis Laxa, Autosomal Recessive, Type Ib	Prominence of the premaxilla, Inguinal hernia, Depressed nasal bridge, Abnormal pinna morphology,...	OMIM:614437
Cutis Laxa, Autosomal Recessive, Type Iid	Reduced subcutaneous adipose tissue, Inguinal hernia, Hypoplastic right heart, Bilateral cryptorc...	OMIM:617403
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Renal agenesis, Unilater...	OMIM:308205
Macrocephaly-Intellectual Disability-Neurodevelopmental Disorder-Small Thorax Syndrome	Frontal bossing, Depressed nasal bridge, Diastasis recti, Hypospadias, Megalencephaly, Cryptorchi...	ORPHA:457485
Desmoid Tumor	Abnormality of the abdominal wall, Hydronephrosis, Abnormality of the upper urinary tract	ORPHA:873
Oculocerebrofacial Syndrome, Kaufman Type	Flat occiput, Micrognathia, Microcephaly, High, narrow palate, Brachycephaly, Wide mouth, Abnorma...	ORPHA:2707
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Exaggerated median tongue furrow, Tented upper lip vermilion, Corneal opacity, Exaggerated cupid'...	OMIM:608670
Severe Oculo-Renal-Cerebellar Syndrome	Mandibular prognathia, Glomerulopathy, Renal insufficiency, Proteinuria, Malar prominence, Wide m...	ORPHA:2715
Short Stature And Facioauriculothoracic Malformations	Microcephaly, High palate, Cleft palate, Cleft upper lip	OMIM:609654
Boutonneuse Fever	Respiratory failure, Petechiae	ORPHA:83313
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies	Micrognathia, Cleft palate, Cleft upper lip	OMIM:601076
Duplication Of The Pituitary Gland	Encephalocele, Microcephaly, Supernumerary tooth, Abnormality of masseter muscle, Abnormal pituit...	ORPHA:314621
Craniofrontonasal Syndrome	Joint laxity, Unilateral breast hypoplasia, Cleft upper lip, Abnormality of the dentition, Crypto...	OMIM:304110
Peutz-Jeghers Syndrome	Neoplasm of the nose, Nasal polyposis, Pancreatic adenocarcinoma, Abnormality of the nose, Enlarg...	ORPHA:2869
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Ventricular septal defect, Micrognathia, Renal hypoplasia/aplasia, Hydrocephalus, Abno...	ORPHA:363700
Trichothiodystrophy 1, Photosensitive	Death in infancy, Cataract, Microcephaly, Flexion contracture, Microcornea, Keratoconjunctivitis ...	OMIM:601675
Myoclonic-Astatic Epilepsy	Thin upper lip vermilion, Microcephaly, Thick lower lip vermilion, Wide mouth, Long philtrum, Mic...	ORPHA:1942
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Joint laxity, Thin upper lip vermilion, Osteomyelitis, Cataract, Microcephaly, High, narrow palat...	OMIM:619475
Joubert Syndrome 38	Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ...	OMIM:619476
Sotos Syndrome	Ureteral duplication, Cerebellar vermis hypoplasia, No permanent dentition, Flexion contracture, ...	ORPHA:821
X-Linked Intellectual Disability, Cabezas Type	Hypoplasia of penis, Inguinal hernia, Camptodactyly of finger, Microcephaly, Open bite, Prominent...	ORPHA:85293
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Coloboma, Cataract, Polymicrogyria	OMIM:612379
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects	Mandibular prognathia, Prominent nasal bridge, Microcephaly, Pachygyria, Prominent nose, Wide mou...	OMIM:619576
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Long nose, Brachycephaly, Prominent crus of helix, Parietal foramina, ...	OMIM:101400
Diaphragmatic Hernia 4, With Cardiovascular Defects	Hepatomegaly, Ventricular septal defect, Aortopulmonary collateral arteries, Optic nerve hypoplas...	OMIM:620025
Sheehan Syndrome	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Adrenocorticot...	ORPHA:91355
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Telangiectasia	OMIM:608799
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Microphthalmia, Syndromic 1	Anophthalmia, Bicuspid aortic valve, Dental crowding, High, narrow palate, Orofacial cleft, High ...	OMIM:309800
Hypogonadotropic Hypogonadism 3 With Or Without Anosmia	Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Finger joint hyperm...	OMIM:244200
Epidermal Nevus Syndrome	Rhabdomyosarcoma, Weakness of long finger extensor muscles, Polycystic kidney dysplasia, Lipoma, ...	ORPHA:35125
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Spastic Paraplegia 51, Autosomal Recessive	Decreased muscle mass, Facial hypotonia, Microcephaly, Long nose, Bulbous nose, Flexion contractu...	OMIM:613744
Sarcoidosis, Susceptibility To, 1	Abnormal salivary gland morphology, Enlarged lacrimal glands	OMIM:181000
Congenital Primary Aphakia	Microphthalmia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye,...	ORPHA:83461
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Corneal...	ORPHA:91495
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth, Pulmonary hypoplasia	OMIM:151210
Ethylene Glycol Poisoning	Cyanosis, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Pulmonary edema	ORPHA:31826
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Oral mucosal blisters, Flexion contracture, Corneal scarring, Atrophic scars, Narrow mouth, Ename...	OMIM:226600
Omodysplasia 2	Tented upper lip vermilion, Bilateral cleft lip, Micrognathia, Cryptorchidism, Cleft palate, Limi...	OMIM:164745
Vesicoureteral Reflux 3	Ureteropelvic junction obstruction, Grade IV vesicoureteral reflux, Recurrent urinary tract infec...	OMIM:613674
Radio-Renal Syndrome	Renal dysplasia, Multicystic kidney dysplasia, Depressed nasal bridge, Renal agenesis, Micrognath...	ORPHA:3015
Lacrimoauriculodentodigital Syndrome 3	Absent eyelashes, Absent lacrimal punctum, Epicanthus, Lacrimal duct aplasia	OMIM:620193
Rubinstein-Taybi Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Cryptorchidism, Nasolacrimal duct obstruction, Do...	ORPHA:783
Neuromuscular Oculoauditory Syndrome	Posteriorly rotated ears, Sensorineural hearing impairment, Knee flexion contracture, Calf muscle...	OMIM:618733
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Respiratory failure	OMIM:616505
Cystic Echinococcosis	Hepatomegaly, Eosinophilia, Abnormality of the testis size, Renal cyst, Abnormal heart morphology...	ORPHA:400
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Joubert Syndrome 20	Renal cyst	OMIM:614970
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Bicuspid aortic valve, Deep philtrum, Vesicoureteral reflux, Atrial septal defect, Hypothyroidism...	ORPHA:438213
Pallister-Hall Syndrome	Adrenal hypoplasia, Ectopic kidney, Depressed nasal ridge, Gonadotropin deficiency, Holoprosencep...	ORPHA:672
Mucopolysaccharidosis Type 4	Abnormal heart valve morphology, Abnormal dental enamel morphology, Anteverted nares, Abnormality...	ORPHA:582
Cutis Laxa, Autosomal Dominant 1	Prematurely aged appearance, Poor wound healing, Progeroid facial appearance, Dyspnea, Bronchiect...	OMIM:123700
Fanconi Anemia, Complementation Group R	Microcephaly, Hydrocephalus, Agenesis of permanent teeth, Microphthalmia, Radial dysplasia	OMIM:617244
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Corneal opacity, Recurrent fractures, Micrognathia, Hypoplasia of the ...	OMIM:601812
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency	OMIM:613845
Tibial Aplasia-Ectrodactyly Syndrome	Omphalocele, Overfolded helix	ORPHA:3329
Robin Sequence With Cleft Mandible And Limb Anomalies	Microretrognathia, Small hypothenar eminence, Micrognathia, Agenesis of mandibular central inciso...	OMIM:268305
Igg4-Related Retroperitoneal Fibrosis	Normocytic anemia, Renal insufficiency, Dysuria, Large vessel vasculitis, Renovascular hypertensi...	ORPHA:49041
Mucopolysaccharidosis, Type Iiid	Hepatomegaly, Frontal bossing, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Heparan...	OMIM:252940
Spondylocarpotarsal Synostosis Syndrome	Frontal bossing, Scapular winging, Mixed hearing impairment, Anteverted nares, Inguinal hernia, B...	OMIM:272460
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Anteverted nares, Posteriorly rotated ears, Micrognathia, Hiatus hernia, Bulbous nose,...	OMIM:614756
Campomelic Dysplasia	Depressed nasal bridge, Micrognathia, Cleft palate, Abnormality of the sense of smell, Hypoplasia...	ORPHA:140
3Q29 Microdeletion Syndrome	Cataract, Dental crowding, Abnormality of the dentition, Microcephaly, Orofacial cleft, Joint hyp...	ORPHA:65286
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Vesicoureteral reflux, Atrial septal defect, Hypothyroidism,...	ORPHA:857
Xanthinuria, Type I	Xanthine nephrolithiasis, Xanthinuria, Pyelonephritis, Myopathy, Hydronephrosis	OMIM:278300
Severe Congenital Nemaline Myopathy	Respiratory failure, Pulmonary hypoplasia	ORPHA:171430
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Premature graying of hair, Emphysema, Pulmonary fibrosis	OMIM:620365
Cockayne Syndrome B	Mandibular prognathia, Delayed eruption of primary teeth, Microcephaly, Carious teeth, Basal gang...	OMIM:133540
Incontinentia Pigmenti	Delayed eruption of teeth, Cataract, Abnormal chorioretinal morphology, Camptodactyly of finger, ...	ORPHA:464
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Wide nose, Cerebellar vermis hypoplasia, Cleft upper lip, Brac...	ORPHA:1394
H Syndrome	Decreased testicular size, Diabetes mellitus, Recurrent fractures, Cleft upper lip, Hydrocephalus...	ORPHA:168569
Hall-Riggs Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal dental enamel morphology, Microcephaly, Pro...	ORPHA:2107
Donohue Syndrome	Skeletal muscle atrophy, Precocious puberty, Adipose tissue loss, Thick lower lip vermilion, Hype...	OMIM:246200
Mend Syndrome	Cataract, Asymmetry of the mouth, Micrognathia, Wide anterior fontanel, Hydrocephalus, Cryptorchi...	ORPHA:401973
Proteus Syndrome	Decreased muscle mass, Neoplasm of the thymus, Renal cyst, Thick nasal alae, Anteverted nares, Ab...	ORPHA:744
Autosomal Dominant Popliteal Pterygium Syndrome	Thin upper lip vermilion, Lip pit, Joint stiffness, Micrognathia, Cryptorchidism, Non-midline cle...	ORPHA:1300
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Vertebral fusion, Decreased response to growth hormone s...	OMIM:213980
Maternal Uniparental Disomy Of Chromosome 6	Miscarriage, Cleft upper lip, Cleft palate, Hydrocele testis, Increased serum testosterone level,...	ORPHA:96181
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micrognathia, Prominent nose, Long nose, Bifid uvula, Abnormality of the kidney, Abnormality of t...	ORPHA:2636
Intellectual Developmental Disorder, Autosomal Dominant 68	Frontal bossing, Posteriorly rotated ears, Urinary incontinence, Microcephaly, Patent ductus arte...	OMIM:619934
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea	ORPHA:26793
Townes-Brocks Syndrome 1	Holoprosencephaly, Vesicoureteral reflux, Atrial septal defect, Hypothyroidism, Multicystic kidne...	OMIM:107480
Diffuse Gastric And Lobular Breast Cancer Syndrome	Cleft palate, Cleft upper lip	OMIM:137215
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Respiratory insufficiency	ORPHA:1145
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Turricephaly, Thymus hyperplasia, Micrognathia, Type 1 muscle fiber atrophy, Scaphocephaly, Cereb...	OMIM:619036
Lenz-Majewski Hyperostotic Dwarfism	Mandibular prognathia, High, narrow palate, Epispadias, Agenesis of corpus callosum, Bifid uvula,...	ORPHA:2658
Plummer-Vinson Syndrome	Tongue atrophy, Intra-oral hyperpigmentation, Cheilitis, Hypochromic microcytic anemia, Iron defi...	ORPHA:54028
Chand Syndrome	Atelectasis	ORPHA:1401
Pituitary Dermoid And Epidermoid Cysts	Enlarged pituitary gland, Neoplasm of the anterior pituitary, Hypogonadism, Hyperpituitarism, Ant...	ORPHA:91351
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Cyanotic episode	ORPHA:284417
Granulomatosis With Polyangiitis	Glomerulopathy, Pericarditis, Sinusitis, Ureteral stenosis, Epistaxis, Renal insufficiency, Abnor...	ORPHA:900
Brain-Lung-Thyroid Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re...	ORPHA:209905
Tenorio Syndrome	Mandibular prognathia, Wide nose, Hypoinsulinemia, Anteverted nares, Hydrocephalus, Wide mouth, M...	OMIM:616260
Short-Rib Thoracic Dysplasia 18 With Polydactyly	Thin upper lip vermilion, Micrognathia, Hydrocephalus, Decreased calvarial ossification, Polycyst...	OMIM:617866
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Microphthalmia, Hydrocephalus, Decreased skull ossification	OMIM:300863
Meningioma	Enlarged pituitary gland, Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Hy...	ORPHA:2495
Cystic Hamartoma Of Lung And Kidney	Multicystic kidney dysplasia	ORPHA:2111
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Pleural effusion, Pulmonary edema	OMIM:261740
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Flexion contracture, Iron deficiency anemia, Urinary bladder sphincter dysfun...	ORPHA:79408
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Bradypnea, Respiratory failure, Death in childhood	OMIM:617186
Liver Disease, Severe Congenital	Cardiomegaly, Micrognathia, Biliary hyperplasia, Leukopenia, Aminoaciduria, Lymphocytosis, Atrial...	OMIM:619991
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Abnormality of the dentition, Microcornea, Keratoconju...	ORPHA:1806
Nicolaides-Baraitser Syndrome	Short lingual frenulum, High, narrow palate, Widely spaced teeth, Anteverted nares, Cryptorchidis...	OMIM:601358
Renal Hypoplasia, Bilateral	Proteinuria, Cryptorchidism, Chronic kidney disease, Renal hypoplasia, Renal cyst, Oliguria, Beta...	ORPHA:97362
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Microcephaly, Leukocoria, Cleft palate, Microphthalmia	OMIM:257910
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Anteverted nares, Depressed nasal bridge, Cryptorchidism, Narrow philtrum, Thick lower lip vermil...	ORPHA:163654
Trichothiodystrophy	Osteopenia, Multiple joint contractures, High, narrow palate, Partial agenesis of the corpus call...	ORPHA:33364
Recombinant 8 Syndrome	Camptodactyly of finger, Cleft upper lip, Abnormality of the dentition, Micrognathia, Cryptorchid...	ORPHA:96167
Aica-Ribosiduria	Wide mouth, Thin upper lip vermilion, Brachycephaly, Low-set ears	ORPHA:250977
Genitopatellar Syndrome	Delayed eruption of teeth, Hip contracture, Wide nose, Multicystic kidney dysplasia, Ventricular ...	OMIM:606170
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Hepatomegaly, Generalized lymphadenopathy, Aplasia of the thymus, Eosinophilia, Splenomegaly, Rec...	OMIM:602450
Mucolipidosis Ii Alpha/Beta	Cardiomegaly, Micrognathia, Progressive alveolar ridge hypertropy, Hepatomegaly, Anteverted nares...	OMIM:252500
Senior-Boichis Syndrome	Diffuse cerebral atrophy, Thickening of the tubular basement membrane, Chronic kidney disease, Re...	ORPHA:84081
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Micrognathia, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, B...	OMIM:253280
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Triokinase And Fmn Cyclase Deficiency Syndrome	Microphthalmia, Cataract	OMIM:618805
Endove Syndrome, Limb-Only Type	Vesicoureteral reflux, Umbilical hernia, Hydronephrosis	OMIM:619217
Monosomy 22Q13.3	Renal dysplasia, Dental crowding, Bulbous nose, Dental malocclusion, Wide nasal bridge, Umbilical...	ORPHA:48652
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Respiratory failure, Death in childhood	OMIM:619847
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice	ORPHA:226313
Cardiofaciocutaneous Syndrome 3	Ventricular septal defect, Wide mouth, Pulmonic stenosis, Atrial septal defect, Hypertrophic card...	OMIM:615279
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax, Pulmonary hypoplasia	OMIM:620306
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Recurrent respiratory infections	OMIM:619383
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Torticollis, Turricephaly, Anteverted nares, Depressed nasal bridge, Micrognathia, Long nose, Cry...	OMIM:620224
Acrorenal-Mandibular Syndrome	Absent nipple, Posteriorly rotated ears, Renal agenesis, Congenital diaphragmatic hernia, Microgn...	OMIM:200980
Barber-Say Syndrome	Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, High palate, Widely spaced teeth,...	OMIM:209885
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Frontal bossing, Depressed nasal bridge, Hydrocephalus, Wide mouth, Arteriovenous malformation, A...	ORPHA:60040
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, Recurrent respiratory infections	ORPHA:329178
Arima Syndrome	Hepatomegaly, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Proteinuria, Polyuria,...	OMIM:243910
Severe Generalized Junctional Epidermolysis Bullosa	Urethral stricture, Duplicated collecting system, Erosion of oral mucosa, Multicystic kidney dysp...	ORPHA:79404
Al-Gazali Syndrome	Hydronephrosis, Wrist flexion contracture, Midface retrusion, Micrognathia	OMIM:609465
Peroxisome Biogenesis Disorder 1B	Hepatomegaly, Hyperoxaluria, Sensorineural hearing impairment, Wide nasal bridge, Renal cyst, Mid...	OMIM:601539
Fountain Syndrome	Craniofacial hyperostosis, Spina bifida, Sensorineural hearing impairment, Thick lower lip vermil...	ORPHA:3219
Rothmund-Thomson Syndrome, Type 2	Delayed eruption of teeth, Mandibular prognathia, Cataract, Micrognathia, Cryptorchidism, Supernu...	OMIM:268400
Familial Exudative Vitreoretinopathy	Cataract, Microcephaly, Chorioretinal atrophy, Reduced bone mineral density, Microphthalmia	ORPHA:891
17Q12 Microduplication Syndrome	Microphthalmia, Cortical dysplasia, Cleft palate	ORPHA:261272
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Renal Coloboma Syndrome	Renal insufficiency, Multicystic kidney dysplasia, Renal hypoplasia, Vesicoureteral reflux, Renal...	ORPHA:1475
Marfan Syndrome	Skeletal muscle atrophy, Dental crowding, Micrognathia, High, narrow palate, Increased axial leng...	ORPHA:558
Intellectual Developmental Disorder, Autosomal Dominant 61	Thin upper lip vermilion, Prominent nasal bridge, Wide nasal bridge, Wide mouth, Smooth philtrum	OMIM:618009
3Mc Syndrome 2	Prominence of the premaxilla, Craniosynostosis, Limited elbow movement, Cleft upper lip, Cryptorc...	OMIM:265050
Neurodevelopmental Disorder With Coarse Facies And Mild Distal Skeletal Abnormalities	Mandibular prognathia, Depressed nasal bridge, Prominent nasal bridge, Abnormality of the dentiti...	OMIM:618505
Fryns-Smeets-Thiry Syndrome	Narrow nasal bridge, Prominent nasal bridge, Micrognathia, Microcephaly, Thick lower lip vermilio...	ORPHA:2058
Rodrigues Blindness	Microcornea, Microphthalmia, Tooth malposition, Sclerocornea	OMIM:268320
Van Der Woude Syndrome	Lip pit, Cleft upper lip, Lower lip pit, Cleft palate, Hypodontia, Abnormal salivary gland morpho...	ORPHA:888
Cornelia De Lange Syndrome	Hypoplasia of penis, Congenital diaphragmatic hernia, Micrognathia, Brachycephaly, Downturned cor...	ORPHA:199
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development	Thin upper lip vermilion, Tented upper lip vermilion, Microcephaly, Cleft upper lip, Cleft palate	OMIM:600987
Atelosteogenesis Type I	Micrognathia, Cleft palate, Multiple renal cysts, Low-set ears, Abnormal pancreatic duct morpholo...	ORPHA:1190
Double Outlet Left Ventricle	Pulmonary artery stenosis, Cyanosis, Tachypnea	ORPHA:3427
Atelis Syndrome 2	Remnants of the hyaloid vascular system, Micrognathia, Diastema, Microcephaly, Thick lower lip ve...	OMIM:620185
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Microcephaly	OMIM:308350
Oculogastrointestinal Neurodevelopmental Syndrome	Coloboma, Bilateral microphthalmos, Unilateral microphthalmos, Microcephaly	OMIM:619318
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Pulmonary arteriovenous ...	OMIM:610655
Junctional Epidermolysis Bullosa With Pyloric Atresia	Urethral stricture, Oral mucosal blisters, Urinary bladder inflammation, Hydronephrosis, Hematuri...	ORPHA:79403
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microcephaly, Cryptorchidism, Cleft palate, Hypoplasia of teeth, Widely spaced teeth, Microdontia...	ORPHA:2728
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Skeletal muscle atrophy, Carious teeth, Dilated cardiomyopathy, Flexion contracture, Atypical sca...	ORPHA:89842
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Midface retrusion, Craniosynostosis, Micrognathia, Absent earlobe, Flexion contracture, Wide nasa...	OMIM:130070
Tsh-Secreting Pituitary Adenoma	Osteopenia, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Hy...	ORPHA:91347
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress, Pulmonary fibrosis	OMIM:612852
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Wide nose, Anteverted nares, Abnormal cortical gyration, Narrow mouth, Bulbous nose, T...	ORPHA:314647
Noonan Syndrome 14	Scapular winging, Posteriorly rotated ears, Prominent nasal bridge, High, narrow palate, Cryptorc...	OMIM:619745
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Frontal bossing, Abnormal dental morphology, Abnormal dental enamel morphology, Hypospadias, Micr...	ORPHA:85199
Chromosome 1P36 Deletion Syndrome, Distal	Orofacial cleft, High palate, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Hypothyroidis...	OMIM:607872
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Wide mouth, Overfolded helix, Brachycephaly, Supernumerary nipple	OMIM:616083
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Tented upper lip vermilion, Microcephaly, Broad nasal tip, Sensorineural hearing impairment, Wide...	OMIM:614207
Stickler Syndrome	Cataract, Abnormal dental enamel morphology, Ectopia lentis, Cleft upper lip, Open bite, Osteoart...	ORPHA:828
Yunis-Varon Syndrome	Sclerocornea, Micrognathia, High, narrow palate, Broad secondary alveolar ridge, Glossoptosis, Sh...	ORPHA:3472
Hsd10 Disease, Infantile Type	Cyanosis	ORPHA:391428
Vertebral Hypersegmentation And Orofacial Anomalies	Supernumerary nipple, Micrognathia, Submucous cleft hard palate, Unilateral cleft lip, Unilateral...	OMIM:619122
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Median cleft lip, Ventricular septal defect, Cerebellar vermis hypoplasia, Hamartoma of tongue, P...	OMIM:263520
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Micrognathia, Dandy-Walker malformation, O...	ORPHA:397715
Interstitial Nephritis, Karyomegalic	Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne...	OMIM:614817
Cutis Marmorata Telangiectatica Congenita	Multicystic kidney dysplasia, Micrognathia, Patent ductus arteriosus, Arterial stenosis, Orofacia...	ORPHA:1556
Poikiloderma With Neutropenia	Sparse eyebrow, Nasolacrimal duct obstruction, Conjunctivitis, Blepharitis, Sparse lateral eyebrow	OMIM:604173
Growth Delay-Intellectual Disability-Hepatopathy Syndrome	Duplicated collecting system, Diabetes mellitus, Microcephaly, Sensorineural hearing impairment, ...	ORPHA:541423
Scheie Syndrome	Hepatomegaly, Splenomegaly, Sensorineural hearing impairment, Wide mouth, Rhinitis, Thick vermili...	ORPHA:93474
Lymphedema-Distichiasis Syndrome	Cataract, Diabetes mellitus, Cleft upper lip, Corneal erosion, Cleft palate, Conjunctivitis	ORPHA:33001
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome	Nasolacrimal duct obstruction	ORPHA:3218
Hypoglossia-Hypodactylia	Micrognathia, Aglossia, Narrow mouth, Microglossia, Retrognathia	OMIM:103300
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Angelman Syndrome	Mandibular prognathia, Flat occiput, Protruding tongue, Hypoplasia of the maxilla, Brachycephaly,...	OMIM:105830
Congenital Disorder Of Glycosylation, Type If	Microcephaly, Flexion contracture, Cerebral atrophy, Renal cortical cysts, Thin vermilion border,...	OMIM:609180
Primrose Syndrome	Skeletal muscle atrophy, Cerebral calcification, Hypoplasia of the maxilla, Bilateral cryptorchid...	OMIM:259050
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea, Pulmonary edema	OMIM:115197
Axial Osteomalacia	Myopathy, Renal cyst	OMIM:109130
Ataxia-Telangiectasia	Sinusitis, Diabetes mellitus, Female hypogonadism, Microcephaly, Acute lymphoblastic leukemia, T ...	OMIM:208900
Vitreoretinochoroidopathy	Pulverulent cataract, Developmental cataract, Microcornea, Microphthalmia, Abnormality of chorior...	OMIM:193220
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Medullary cystic kidney disease 2	Multiple small medullary renal cysts, Stage 5 chronic kidney disease, Enuresis, Tubulointerstitia...	OMIM:603860
Lipodystrophy, Familial Partial, Type 7	Loss of subcutaneous adipose tissue in limbs, Reduced subcutaneous adipose tissue, Decreased adip...	OMIM:606721
Adams-Oliver Syndrome	Encephalocele, Cataract, Hydrocephalus, Porencephalic cyst, Microphthalmia, Periventricular leuko...	ORPHA:974
Pitt-Hopkins Syndrome	Anteverted nares, Prominent nasal bridge, Supernumerary nipple, Microcephaly, Hiatus hernia, Tria...	ORPHA:2896
Norrie Disease	Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham...	OMIM:310600
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Optic disc colobom...	OMIM:120200
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent respiratory infections, Recurrent bronchopulmonary infections, Re...	OMIM:617303
Joubert Syndrome 39	Occipital encephalocele, Cerebellar vermis hypoplasia, Hypoplastic left heart, Joint contracture ...	OMIM:619562
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Emphysema, Pneum...	ORPHA:31204
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis...	OMIM:615873
Pearson Syndrome	Decreased response to growth hormone stimulation test, Renal cyst, Neutropenia, Hypothyroidism, H...	ORPHA:699
Kinsship Syndrome	Mandibular prognathia, Thin upper lip vermilion, Micrognathia, Microcephaly, Bulbous nose, Thick ...	OMIM:619297
Orofaciodigital Syndrome Type 4	Abnormal oral mucosa morphology, Micrognathia, High, narrow palate, Abnormality of the gingiva, O...	ORPHA:2753
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea	OMIM:619580
Renal Cysts And Diabetes Syndrome	Diabetes mellitus, Hypospadias, Abnormality of the kidney, Maturity-onset diabetes of the young, ...	OMIM:137920
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:99880
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Dacryocystitis, Cryptorchidism, Pseudohypoparathyroidism	ORPHA:464288
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Respiratory insufficiency	OMIM:609015
Limb-Mammary Syndrome	Lacrimal duct atresia, Hypoplastic nipples	OMIM:603543
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction, Pulmonary hypoplasia	OMIM:100800
Ethylmalonic Encephalopathy	Acrocyanosis, Petechiae	ORPHA:51188
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Cryptorchidism, Synophrys, Naso...	OMIM:610759
Naxos Disease	Cleft upper lip	ORPHA:34217
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Frontal bossing, Wide nose, Prominent nasal bridge, Carious teeth, Hyp...	ORPHA:50814
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Tented upper lip vermilion, Micrognathia, Widely-spaced maxillary central incisors, High palate, ...	OMIM:309580
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency	ORPHA:367
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Irregular dentition, Depressed nasal bridge, Abnormal auditory evoked potentials, Sensorineural h...	OMIM:619260
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Primary hyp...	ORPHA:143
Dravet Syndrome	Cyanotic episode	ORPHA:33069
Cryptococcosis	Respiratory distress, Pneumonia, Nodular pattern on pulmonary HRCT, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Mandibular prognathia, Prominent nose, High, narrow palate, Deep philtrum, Brachycephaly, Downtur...	OMIM:619950
Johanson-Blizzard Syndrome	Calvarial skull defect, Downturned corners of mouth, Atrial septal defect, Hypoplasia of the prim...	OMIM:243800
Intellectual Developmental Disorder, Autosomal Dominant 42	Ureteropelvic junction obstruction, Neurogenic bladder, Posteriorly rotated ears, Sensorineural h...	OMIM:616973
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
17Q12 Microdeletion Syndrome	Multicystic kidney dysplasia, Diabetes mellitus, Renal insufficiency, Renal hypoplasia/aplasia, C...	ORPHA:261265
Postaxial Acrofacial Dysostosis	Supernumerary nipple, Cleft upper lip, Micrognathia, Conical tooth, Cryptorchidism, Cleft palate,...	OMIM:263750
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay	Elevated hemoglobin A1c, Narrow mouth, Renal tubular dysfunction, Glycosuria, Hypertrophic cardio...	OMIM:616539
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Sensorineural hearing impairment, Flexion contracture of the 2...	ORPHA:324540
Toxic Epidermal Necrolysis	Respiratory distress, Recurrent respiratory infections, Abnormal pleura morphology, Erythema, Res...	ORPHA:537
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Pulmonary arteriovenous malformation	ORPHA:268943
Frontonasal Dysplasia 2	Encephalocele, Craniosynostosis, Conical tooth, Microcephaly, Bilateral cryptorchidism, Widely sp...	OMIM:613451
Occipital Horn Syndrome	Convex nasal ridge, Hiatus hernia, Hydronephrosis, Bladder diverticulum, High palate, Long philtr...	OMIM:304150
Ulbright-Hodes Syndrome	Abnormal penis morphology, Depressed nasal bridge, Abnormal pinna morphology, Maternal diabetes, ...	ORPHA:3404
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Pulmonary...	ORPHA:3342
Idiopathic Uveal Effusion Syndrome	Microphthalmia, Abnormal anterior eye segment morphology	ORPHA:209956
Larsen Syndrome	Joint laxity, Vertebral fusion, Corneal opacity, Cleft upper lip, Cryptorchidism, Cleft palate, M...	OMIM:150250
Tetraamelia Syndrome 2	Microretrognathia, Absent nipple, Bilateral cleft lip, Micrognathia, Cleft palate, Glossoptosis, ...	OMIM:618021
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Respiratory tract infection, Tachypnea, Ecchymosis	ORPHA:36234
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease	Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome...	OMIM:618061
Beck-Fahrner Syndrome	Lacrimal duct stenosis, Ptosis	OMIM:618798
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Popliteal Pterygium Syndrome	Cleft upper lip, Cryptorchidism, Lower lip pit, Fibrous syngnathia, Cleft palate, Popliteal ptery...	OMIM:119500
Incontinentia Pigmenti	Delayed eruption of teeth, Hypoplasia of the fovea, Cataract, Supernumerary nipple, Conical tooth...	OMIM:308300
Orofacial Cleft 15	Agenesis of lateral incisor, Bilateral cleft palate, Bilateral cleft lip, Cryptorchidism, Palate ...	OMIM:616788
Bilateral Polymicrogyria	4-layered lissencephaly, Micrognathia, Aplasia/Hypoplasia of the cerebral white matter, Sensorine...	ORPHA:268940
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Malignant Atrophic Papulosis	Pleural effusion, Telangiectasia of the skin, Respiratory failure	ORPHA:679
Bardet-Biedl Syndrome 6	Diabetes mellitus, Hypospadias, Renal cyst	OMIM:605231
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hyaloid vascular system...	OMIM:609049
Dyskeratosis Congenita, Autosomal Recessive 1	Pterygium, Sparse eyelashes, Nasolacrimal duct obstruction	OMIM:224230
Dermatomyositis	Recurrent respiratory infections, Telangiectasia of the skin, Erythema, Abnormal pulmonary inters...	ORPHA:221
Roifman-Chitayat Syndrome	Lacrimal duct stenosis	OMIM:613328
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Elevated urinary catecholamine level, Pancreatic islet cell adenoma, Pa...	ORPHA:892
Alveolar Echinococcosis	Abnormal pericardium morphology, Eosinophilia, Hepatic cysts, Pancreatic cysts, Abnormal bladder ...	ORPHA:284
Adams-Oliver Syndrome 1	Encephalocele, Supernumerary nipple, Cleft upper lip, Microcephaly, Cortical dysplasia, Cleft pal...	OMIM:100300
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Wide mouth, Cessation of head growth, Mandibular prognathia	ORPHA:411515
Polycystic Liver Disease 4 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617875
Polycystic Liver Disease 3 With Or Without Kidney Cysts	Hepatic cysts, Renal cyst	OMIM:617874
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Inspiratory stridor	ORPHA:100050
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent upper respiratory tract infections, Recurrent pneumonia	OMIM:607143
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Anteverted nares, Depressed nasal bridge, Flexion contracture, Thick lower lip vermilion, Wide na...	OMIM:611717
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood	OMIM:610505
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Mandibular prognathia, Glomerulopathy, Multicystic kidney dysplasia, Diabetes mellitus, Hypospadi...	ORPHA:93111
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Microphthalmia, Microcephaly, Ocular albinism, Micrognathia	ORPHA:1352
Cockayne Syndrome	Cerebral calcification, Basal ganglia calcification, Congenital contracture, Lentiglobus, Gliosis...	ORPHA:191
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis	OMIM:614407
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Hamartoma of tongue, Cleft upper lip, Cleft palate, Bifid tongue, Agenesis of corpus callosum	OMIM:613091
Craniofaciofrontodigital Syndrome	Respiratory distress, Prominent superficial veins, Dyspnea, Palmoplantar cutis laxa, Pulmonary ar...	ORPHA:363705
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Craniolenticulosutural Dysplasia	Delayed eruption of teeth, Thin upper lip vermilion, Midface retrusion, Frontal bossing, Antevert...	OMIM:607812
Cocaine Intoxication	Respiratory distress, Diffuse alveolar hemorrhage, Hyperventilation, Wheezing, Pneumothorax, Tach...	ORPHA:90068
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Cardiac Valvular Dysplasia 2	Central cyanosis, Pulmonary artery dilatation	OMIM:620067
Radius, Aplasia Of, With Cleft Lip/Palate	Cleft palate, Cleft upper lip	OMIM:179400
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Pulmonary arter...	ORPHA:2905
Mpdu1-Cdg	Decreased serum insulin-like growth factor 1, Decreased response to growth hormone stimulation te...	ORPHA:79323
Lethal Acantholytic Erosive Disorder	Respiratory failure, Fragile skin	ORPHA:158687
Pitt-Hopkins Syndrome	Supernumerary nipple, Microcephaly, Cryptorchidism, Deep philtrum, Flared nostrils, Cupped ear, W...	OMIM:610954
Autosomal Recessive Faciodigitogenital Syndrome	Frontal bossing, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, Micrognathia...	ORPHA:1974
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Angioedema, Asthma, Pulmonary...	ORPHA:3260
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Respiratory failure requiring assisted ventilation, Respiratory failure, Recurrent pneumonia	ORPHA:496641
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Shprintzen Omphalocele Syndrome	Omphalocele, Flared nostrils, Wide nasal bridge, Short columella, Thin vermilion border	OMIM:182210
Autosomal Dominant Kenny-Caffey Syndrome	Persistence of primary teeth, Carious teeth, Basal ganglia calcification, Bilateral microphthalmo...	ORPHA:93325
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Recurrent infections due to aspiration, Decreased sensitivity to hypoxemia, Acrocyanosis	OMIM:223900
Frontonasal Dysplasia 3	Microphthalmia, Cleft palate	OMIM:613456
Q Fever	Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Cough, Pleural effus...	ORPHA:781
Glycine Encephalopathy With Normal Serum Glycine	Respiratory failure, Apnea	OMIM:617301
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Wide nose, Short lingual frenulum, Unilateral hypoplasia of pectoralis major muscle, Diastasis re...	ORPHA:1521
Bloom Syndrome	Pneumonia, Bronchitis, Respiratory tract infection, Chronic pulmonary obstruction, Telangiectasia...	ORPHA:125
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Pelizaeus-Merzbacher Disease, Connatal Form	Respiratory failure	ORPHA:280210
Bickerstaff Brainstem Encephalitis	Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf...	ORPHA:79138
Ellis-Van Creveld Syndrome	Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi...	OMIM:225500
Congenital Fiber-Type Disproportion Myopathy	Recurrent respiratory infections, Hypercapnia, Respiratory insufficiency due to muscle weakness, ...	ORPHA:2020
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormal eyebrow morphology, Abnormal nasolacrimal system morphology, Thin eyebrow, Abnormal eyel...	ORPHA:3220
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Respiratory insufficiency, Respiratory failure	OMIM:252010
Holoprosencephaly 4	Median cleft lip and palate, Median cleft lip, Semilobar holoprosencephaly	OMIM:142946
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Cyanosis	ORPHA:3304
Congenital Bile Acid Synthesis Defect Type 2	Dark urine, Hepatomegaly, Extramedullary hematopoiesis, Renal cyst	ORPHA:79303
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Angelman Syndrome Due To A Point Mutation	Mandibular prognathia, Flat occiput, Protruding tongue, Cessation of head growth, Wide mouth, Wid...	ORPHA:411511
Mody	Elevated hemoglobin A1c, Abnormality of the kidney, Transient neonatal diabetes mellitus, Insulin...	ORPHA:552
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Erythema, ...	OMIM:614748
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Respiratory failure	ORPHA:3240
Distal Renal Tubular Acidosis	Hemolytic anemia, Hyperphosphaturia, Hypocitraturia, Sensorineural hearing impairment, Nephrolith...	ORPHA:18
Phosphoribosylpyrophosphate Synthetase Superactivity	Renal insufficiency, Depressed nasal bridge, Hypospadias, Cryptorchidism, Sensorineural hearing i...	OMIM:300661
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft lip, Abnormality of the philtrum, Cleft palate, Polycystic ovaries	ORPHA:1770
Netherton Syndrome	Aminoaciduria, Hydronephrosis, Ectopic kidney	ORPHA:634
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Adult Syndrome	Absent nipple, Nasolacrimal duct obstruction, Conjunctivitis, Hypoplastic nipples, Breast hypoplasia	OMIM:103285
Combined Oxidative Phosphorylation Deficiency 37	Respiratory failure, Respiratory insufficiency	OMIM:618329
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Decreased circulating cortisol level, Decreased serum insulin-like growth factor 1, Decreased res...	ORPHA:293978
3Mc Syndrome 3	Corneal opacity, Cleft upper lip, Cryptorchidism, Cleft palate, Radioulnar synostosis	OMIM:248340
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:274150
Barber-Say Syndrome	Delayed eruption of teeth, Anteverted nares, Abnormal pinna morphology, Bulbous nose, Wide nasal ...	ORPHA:1231
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure	ORPHA:88618
Omphalocele Syndrome, Shprintzen-Goldberg Type	Downturned corners of mouth, Thin upper lip vermilion, Short columella, Omphalocele	ORPHA:3164
Osteoporosis-Pseudoglioma Syndrome	Osteopenia, Iris atrophy, Cataract, Recurrent fractures, Microcephaly, Phthisis bulbi, Osteoporos...	OMIM:259770
46,Xx Difference Of Sex Development-Anorectal Anomalies Syndrome	Multicystic kidney dysplasia, Hydroureter, Renal hypoplasia/aplasia, Abnormality of the urethra, ...	ORPHA:2973
Cleft Lip/Palate-Deafness-Sacral Lipoma Syndrome	Tooth agenesis, Non-midline cleft lip, Meningocele, Bilateral cleft lip and palate	ORPHA:2003
Osteogenesis Imperfecta, Type Vii	Hypoplastic pulmonary veins, Absent pulmonary artery, Hydronephrosis, Decreased calvarial ossific...	OMIM:610682
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Delayed eruption of teeth, Abnormal dental enamel morphology, Supernumerary nipple, Conical tooth...	ORPHA:1071
Progressive Non-Infectious Anterior Vertebral Fusion	Depressed nasal bridge, Micrognathia, Brachycephaly, Wide nasal bridge, Wide mouth, Thin vermilio...	ORPHA:2062
Campomelia, Cumming Type	Pancreatic cysts, Polycystic kidney dysplasia, Polysplenia	OMIM:211890
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia	OMIM:616271
Familial Bicuspid Aortic Valve	Aortic arch aneurysm, Bicuspid aortic valve, Aortic valve calcification, Coarctation of aorta, Ab...	ORPHA:402075
Osteopetrosis, Autosomal Recessive 5	Respiratory failure, Stillbirth	OMIM:259720
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Orofaciodigital Syndrome Type 2	Natal tooth, Median cleft lip, Hamartoma of tongue, Micrognathia, Unilateral alveolar cleft of ma...	ORPHA:2751
Xeroderma Pigmentosum, Complementation Group D	Cataract, Microcephaly, Keratitis, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, Co...	OMIM:278730
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Duplicated collecting system, Sensorineural hearing impairment, Secondary microcephaly, Primary m...	OMIM:617093
Erdheim-Chester Disease	Renal insufficiency, Hypogonadotropic hypogonadism, Abnormal pericardium morphology, Dysuria, Abn...	ORPHA:35687
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2	Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat...	OMIM:174000
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Schizencephaly, Corneal opacity, Hydrocephalus, Porencephalic cyst, Polycoria, Cortical dysplasia...	OMIM:175780
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Eosinophilic Fasciitis	Acrocyanosis	ORPHA:3165
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia, Increased circulating gonadotropin level, High palate	OMIM:110100
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Dila...	ORPHA:466950
Xeroderma Pigmentosum, Complementation Group B	Cataract, Microcephaly, Basal ganglia calcification, Hypogonadism, Microphthalmia	OMIM:610651
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Aicardi-Goutieres Syndrome 1	Erythema, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Geleophysic Dysplasia 1	Hepatomegaly, Anteverted nares, Tricuspid stenosis, Camptodactyly of finger, Short nose, Wide mou...	OMIM:231050
Kenny-Caffey Syndrome, Type 2	Hypoparathyroidism, Increased bone mineral density, Basal ganglia calcification, Developmental ca...	OMIM:127000
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form	Wide mouth, Microcephaly, Hypospadias, Micrognathia	ORPHA:79350
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Autosomal Recessive Polycystic Kidney Disease	Renal insufficiency, Recurrent urinary tract infections, Micrognathia, Biliary hyperplasia, Splen...	ORPHA:731
Japanese Encephalitis	Respiratory distress, Pulmonary edema, Respiratory paralysis, Abnormal pattern of respiration, Ir...	ORPHA:79139
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Ureteral duplication, Recurrent urinary tract infections, Abnormality ...	ORPHA:2036
Atresia Of Urethra	Renal dysplasia, Renal insufficiency, Bladder fistula, Hydroureter, Recurrent urinary tract infec...	ORPHA:105
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Adrenal cortical sclerosis, Hepatomegaly, Autoimmune hemolytic anemia, Sinusitis, Severe B lympho...	OMIM:102700
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Mandibular prognathia, Flat occiput, Protruding tongue, Cessation of head growth, Wide mouth, Wid...	ORPHA:98794
Adult Syndrome	Hypoplastic nipples, Absent nipple, Nasolacrimal duct obstruction, Breast hypoplasia	ORPHA:978
Refsum Disease	Microphthalmia, Cataract	ORPHA:773
Mitochondrial Complex I Deficiency, Nuclear Type 32	Respiratory failure, Death in childhood	OMIM:618252
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Mandibular prognathia, Protruding tongue, Cessation of head growth, Wide mouth, Widely spaced tee...	ORPHA:98795
Bardet-Biedl Syndrome 12	Hydronephrosis, Hydroureter, Hypogonadism, Cystic renal dysplasia	OMIM:615989
Neonatal Inflammatory Skin And Bowel Disease	Left ventricular hypertrophy, Chapped lip	ORPHA:294023
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cataract, Craniosynostosis, Micrognathia, Microcephaly, Cryptorchidism, Thick vermilion border, M...	OMIM:620005
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Fanconi Anemia	Cataract, Spina bifida, Micrognathia, Aplasia/Hypoplasia of the uvula, Microcephaly, Hydrocephalu...	ORPHA:84
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Poliomyelitis	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:2912
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Hydrocephalus, Hypoplasia of the co...	OMIM:227646
Exudative Vitreoretinopathy 2, X-Linked	Microphthalmia, Shallow anterior chamber	OMIM:305390
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Faciocardiomelic Syndrome	Anteverted nares, Depressed nasal bridge, Micrognathia, Microcephaly, Dental malocclusion, Wide m...	OMIM:612731
Mesomelia-Synostoses Syndrome	Microretrognathia, Micrognathia, Hydronephrosis, Short umbilical cord, Convex nasal ridge, Absent...	OMIM:600383
Isolated Osteopoikilosis	Dacryocystitis	ORPHA:166119
Ankyloblepharon Filiforme Adnatum-Cleft Palate Syndrome	Cleft palate, Non-midline cleft lip, Lip pit	ORPHA:1072
Kyphomelic Dysplasia	Micrognathia, Cleft upper lip, Limitation of joint mobility, Cleft palate, Pterygium	OMIM:211350
Ileal Neuroendocrine Tumor	Tricuspid stenosis, Lymphadenopathy, Iron deficiency anemia, Small intestine carcinoid, Increased...	ORPHA:100078
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Split Cord Malformation	Neurogenic bladder, Hypospadias, Urinary incontinence, Detrusor sphincter dyssynergia, Cervical s...	ORPHA:573278
Pmm2-Cdg	Mandibular prognathia, Multiple joint contractures, Cerebellar vermis hypoplasia, Prominent nose,...	ORPHA:79318
Leigh Syndrome	Respiratory failure, Abnormal pattern of respiration	ORPHA:506
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion, Pulmonary hypoplasia	OMIM:620369
Isolated Cleft Lip	Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia...	ORPHA:199302
Familial Dysautonomia	Recurrent respiratory infections, Acrocyanosis, Abnormal pleura morphology	ORPHA:1764
Diamond-Blackfan Anemia 1	Cleft upper lip, Micrognathia, Microcephaly, Primary congenital glaucoma, Cleft palate, Retrognat...	OMIM:105650
Nephronophthisis 1	Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Renal cortico...	OMIM:256100
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Spontaneous, recurrent epistaxis, Transient ischemic attack, Depressed ...	ORPHA:2929
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis	ORPHA:488627
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Jaundice, Respiratory failure	ORPHA:533
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Recurrent respiratory infections, Pneumonia, Urticaria, Interstitial pneumo...	ORPHA:37042
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Osteopetrosis	OMIM:615085
Nijmegen Breakage Syndrome	Recurrent sinopulmonary infections, Recurrent respiratory infections, Recurrent pneumonia, Respir...	ORPHA:647
Kilquist Syndrome	Mandibular prognathia, Choanal atresia, Hypoplasia of teeth, Wide mouth, Bilateral sensorineural ...	OMIM:619080
Norrie Disease	Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal opacity, Sclerocornea,...	ORPHA:649
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis	Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia	OMIM:600273
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Thin upper lip vermilion, Depressed nasal bridge, Posteriorly rotated ears, Broad nasal tip, Dila...	ORPHA:466943
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Recurrent respiratory infections, Stridor, Pulmonary arterial hypertension,...	ORPHA:505248
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Asthma, Recurrent upper respiratory tract inf...	ORPHA:293987
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Abnormal pulmonary interstitial morphology, Respiratory insufficiency, Respiratory fai...	OMIM:613658
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Urethral atresia, Inguinal hernia, Hydronephrosis, Dolichocephaly	OMIM:271520
Limb-Mammary Syndrome	Absent lacrimal punctum, Absent nipple, Chronic irritative conjunctivitis, Sparse eyebrow, Lacrim...	ORPHA:69085
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Corneal opacity, Coloboma, Ectopia pupillae, Lens subluxation, Microphthalmia	ORPHA:85167
Lowe Oculocerebrorenal Syndrome	Camptodactyly of finger, Osteomalacia, Cryptorchidism, Rickets, Periventricular cysts, Corneal sc...	OMIM:309000
Coccidioidomycosis	Respiratory distress, Pneumonia, Pulmonary infiltrates, Pleural empyema, Parenchymal consolidatio...	ORPHA:228123
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Jaundice	OMIM:617156
Aspergillosis	Dacryocystitis	ORPHA:1163
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, High palate	OMIM:619053
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Synophrys, Downslanted palpebral fissures, Nasolacrimal duct obstruction	OMIM:300966
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Hypocalciuric Hypercalcemia, Familial, Type Iii	Renal insufficiency, Parathormone-independent increased renal tubular calcium reabsorption, Multi...	OMIM:600740
Branchiootic Syndrome	Abnormal nasolacrimal system morphology	ORPHA:52429
Eisenmenger Syndrome	Respiratory distress, Cyanosis, Increased pulmonary vascular resistance, Wheezing, Aortopulmonary...	ORPHA:97214
Mgat2-Cdg	Respiratory distress, Recurrent upper and lower respiratory tract infections	ORPHA:79329
T-Cell Immunodeficiency With Thymic Aplasia	Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci...	OMIM:242700
T-Cell Immunodeficiency With Thymic Aplasia	Recurrent urinary tract infections, Sinusitis, Decreased proportion of naive T cells, Aplasia of ...	ORPHA:83471
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Sensorineural hearing impairment, Renal cell carcinom...	OMIM:193300
Niemann-Pick Disease Type C	Jaundice, Abnormal lung morphology, Respiratory insufficiency, Pulmonary infiltrates, Respiratory...	ORPHA:646
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Fanconi Anemia, Complementation Group L	Microphthalmia, Hydrocephalus, Cleft palate, Micrognathia	OMIM:614083
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Angelman Syndrome	Mandibular prognathia, Flat occiput, Precocious puberty in females, Cerebral dysmyelination, Prot...	ORPHA:72
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies	Dermatochalasis, Lacrimal duct stenosis, Palpebral edema	ORPHA:221139
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Renal insufficiency, Pancreatic fibrosis, Proteinuria, Pancreatic cysts, Chronic kidney disease, ...	OMIM:208500
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea, Flushing	ORPHA:2131
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Aspartylglucosaminuria	Hepatomegaly, Aspartylglucosaminuria, Anteverted nares, Depressed nasal bridge, Microcephaly, Hyp...	OMIM:208400
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Neu-Laxova Syndrome	Abnormal eyelash morphology, Pterygium, Abnormal nasolacrimal system morphology, Abnormal eyelid ...	ORPHA:2671
Phace Association	Optic nerve hypoplasia, Congenital hypothyroidism, Developmental cataract, Microphthalmia, Lingua...	OMIM:606519
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea, Petechiae, Purpura	ORPHA:2330
Nephronophthisis 3	Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c...	OMIM:604387
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Familial Adenomatous Polyposis 4	Ovarian cyst, Renal cyst, Thyroid adenoma	OMIM:617100
Fucosidosis	Acrocyanosis, Vascular skin abnormality	ORPHA:349
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Craniosynostosis, Micrognathia, Microcephaly, Cryptorchidism, Antecubital pterygium, Knee flexion...	OMIM:609945
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 3	Fetal megacystis, Hydroureter, Megacystis, Hydronephrosis	OMIM:619362
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Pulmonic stenosis, Protruding tongue	OMIM:614325
Fanconi Anemia, Complementation Group F	Cryptorchidism, Microphthalmia, Decreased response to growth hormone stimulation test, Microcephaly	OMIM:603467
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Microtia With Meatal Atresia And Conductive Deafness	Wide mouth, Aplasia/Hypoplasia of the middle ear, Microtia, Anotia, Conductive hearing impairment	OMIM:251800
Msh3-Related Attenuated Familial Adenomatous Polyposis	Ovarian dermoid cyst, Renal cyst, Thyroid adenoma	ORPHA:480536
Intellectual Developmental Disorder, Autosomal Recessive 46	Mandibular prognathia, Widely spaced teeth, Protruding ear	OMIM:616116
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm...	OMIM:610188
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 5	Hydroureter, Megacystis, Hydronephrosis	OMIM:619431
Immunodeficiency 96	Increased proportion of gamma-delta T cells, Increased mean corpuscular volume, Multicystic kidne...	OMIM:619774
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary arterial hypertension, Jaundice, Pulmonary embolism	ORPHA:79282
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly, Bifid uvula, Craniosynostosis, Micrognathia	OMIM:601374
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:256810
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Vasculitis in the skin, Acrocyanosis, Recurrent str...	ORPHA:48435
Leptospirosis	Respiratory distress, Jaundice, Cough, Pleural effusion, Pulmonary hemorrhage	ORPHA:509
Caroli Disease	Hepatomegaly, Splenomegaly, Leukocytosis, Polycystic kidney dysplasia, Cholelithiasis	ORPHA:53035
Abetalipoproteinemia	Respiratory failure	ORPHA:14
Mckusick-Kaufman Syndrome	Hydroureter, Cryptorchidism, Polycystic kidney dysplasia, Vesicovaginal fistula, Hydronephrosis	OMIM:236700
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Recurrent respiratory infections	OMIM:615273
Carpenter Syndrome 2	Epicanthus, Highly arched eyebrow, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism...	OMIM:614976
Costello Syndrome	Tracheomalacia, Respiratory failure, Pneumothorax, Respiratory insufficiency	OMIM:218040
Visceral Myopathy 1	Vesicoureteral reflux, Urinary retention, Megacystis, Hydronephrosis	OMIM:155310
Caroli Syndrome	Hepatomegaly, Abnormality of the kidney, Hypersplenism, Leukocytosis, Leukopenia, Polycystic kidn...	ORPHA:480520
Fanconi Anemia, Complementation Group C	Hypergonadotropic hypogonadism, Microcephaly, Cryptorchidism, Flexion contracture, Microphthalmia	OMIM:227645
Steinert Myotonic Dystrophy	Respiratory insufficiency due to muscle weakness, Respiratory failure requiring assisted ventilat...	ORPHA:273
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly	Death in childhood, Cryptorchidism, Cleft palate, Cleft upper lip	OMIM:600460
1P21.3 Microdeletion Syndrome	Broad nasal tip, Micrognathia, Wide mouth, Long ear, Short nose	ORPHA:293948
Fanconi Anemia, Complementation Group E	Cryptorchidism, Microphthalmia, Hypergonadotropic hypogonadism, Microcephaly	OMIM:600901
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Aplasia of the thymus	ORPHA:3004
Fanconi Anemia, Complementation Group A	Cryptorchidism, Microphthalmia, Hypergonadotropic hypogonadism, Microcephaly	OMIM:227650
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Thyroid dysgenesis, Abnormal nasolacrimal system morphology, Cryptorchidism, Ectopic thyroid, Ble...	ORPHA:3047
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Malt Lymphoma	Abnormal nasolacrimal system morphology	ORPHA:52417
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Respiratory failure, Emphysema, Unilateral lung agenesis	ORPHA:500150
Renal Agenesis, Bilateral	Non-midline cleft lip, Cleft palate	ORPHA:1848
Attenuated Familial Adenomatous Polyposis	Multiple renal cysts, Thyroid adenoma	ORPHA:220460
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Hyperoxaluria, Primary, Type I	Acrocyanosis, Cutis marmorata	OMIM:259900
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Supernumerary tooth, Median cleft lip, Hypodontia, Accessory oral frenulum	OMIM:617088
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Progressive Multifocal Leukoencephalopathy	Abnormal oligodendroglia morphology	ORPHA:217260
Primary Hyperoxaluria	Acrocyanosis, Cutis marmorata	ORPHA:416
Aicardi-Goutières Syndrome	Acrocyanosis, Cutis marmorata, Prolonged neonatal jaundice	ORPHA:51
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis	ORPHA:51608
Plague	Acute infectious pneumonia, Respiratory distress	ORPHA:707
Gitelman Syndrome	Respiratory distress	ORPHA:358
Classical Ehlers-Danlos Syndrome	Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosis, Fragile skin, Bruising...	ORPHA:287
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Apnea	ORPHA:285
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata	OMIM:303600
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia	ORPHA:99646
Alström Syndrome	Respiratory distress, Dorsocervical fat pad, Recurrent upper respiratory tract infections, Recurr...	ORPHA:64
Leukocyte Adhesion Deficiency	Conjunctivitis, Nasolacrimal sac granuloma	ORPHA:2968

Histopathology

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

There is no histopathology data for Ndst1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Ndst1.

No publications found that use IMPC mice or data for Ndst1.

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Ndst1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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