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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Autosomal Recessive Non-Syndromic Intellectual Disability
Absent septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Polymicrogyria, Co... ORPHA:88616
Mental Retardation, Autosomal Recessive 46
OMIM:616116

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Bronchopulmonary Dysplasia
Pulmonary sequestration, Abnormal lung morphology, Hyperoxemia, Abnormal respiratory system morph... ORPHA:70589
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland aplasia, Lacrimal gland hypoplasia, Absent lacrimal punctum OMIM:180920
Cholesterol Pneumonia
Cough, Death in infancy, Pneumonia, Tachypnea, Cyanosis OMIM:215030
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Renal cyst, Cleft upper l... OMIM:231060
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Ventricular septal defect, Midface retrusion, Depressed nasal ridge, Mic... ORPHA:1727
Pulmonary Blastoma
Recurrent pneumonia, Dyspnea, Pleuropulmonary blastoma, Cough, Hemoptysis, Pulmonary infiltrates ORPHA:64741
Emphysema, Congenital Lobar
Bronchial cartilage hypoplasia, Respiratory distress OMIM:130710
Asbestos Intoxication
Wheezing, Exertional dyspnea, Cyanosis, Ground-glass opacification, Late inspiratory crackles, Pu... ORPHA:2302
Mucus Inspissation Of Respiratory Tract
Chronic pulmonary obstruction, Bronchiectasis, Atelectasis, Chronic sinusitis, Recurrent respirat... OMIM:253240
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Pulmonary edema, Tachy... OMIM:267450
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Surfactant Metabolism Dysfunction, Pulmonary, 3
Reticular pattern on pulmonary HRCT, Exertional dyspnea, Cough, Death in infancy, Cyanosis, Bronc... OMIM:610921
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory failure, Death in childhood, Central apnea, Respiratory insufficiency OMIM:611722
Heart And Brain Malformation Syndrome
Global brain atrophy, High, narrow palate, Depressed nasal bridge, Wide anterior fontanel, Hypopl... OMIM:616920
Ciliary Dyskinesia, Primary, 21
Chronic sinusitis, Bronchiectasis, Ciliary dyskinesia, Atelectasis, Neonatal respiratory distress... OMIM:615294
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Recurrent upper respiratory tract infections, Atel... ORPHA:922
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Ciliary Dyskinesia, Primary, 29
Bronchiectasis, Ciliary dyskinesia, Atelectasis, Decreased nasal nitric oxide, Recurrent respirat... OMIM:615872
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Unilateral renal agenes... OMIM:601355
Surfactant Metabolism Dysfunction, Pulmonary, 1
Ground-glass opacification, Apnea, Intraalveolar phospholipid accumulation, Absent bronchoalveola... OMIM:265120
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Cough, Dyspnea, Nodular pattern on pulmonary HRCT ORPHA:60026
Recurrent Respiratory Papillomatosis
Abnormal lung morphology, Wheezing, Respiratory distress, Dyspnea, Recurrent upper respiratory tr... ORPHA:60032
Microphthalmia, Syndromic 9
Cryptorchidism, Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Anophthalmia, ... OMIM:601186
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnorma... ORPHA:2516
Interstitial Pneumonitis, Desquamative, Familial
Type II pneumocyte hypertrophy, Respiratory distress, Recurrent upper respiratory tract infection... OMIM:263000
Glaucoma-Sleep Apnea Syndrome
Sleep apnea, Respiratory insufficiency ORPHA:2085
Emanuel Syndrome
Cryptorchidism, Dental crowding, Patent ductus arteriosus, Broad jaw, Congenital diaphragmatic he... OMIM:609029
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Cryptorchidism, Atrial septal defect, Truncus arteriosus, Short nose, Abnormal hea... ORPHA:401935
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Spinal dysraphism, Renal hypoplasia/aplasia... ORPHA:1926
Tracheopathia Osteoplastica
Recurrent pneumonia, Wheezing, Dyspnea, Cough, Hemoptysis OMIM:189961
Tracheobronchopathia Osteochondroplastica
Abnormal sputum, Tracheal calcification, Wheezing, Exertional dyspnea, Pneumonia, Respiratory ins... ORPHA:3348
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Frontal bossing, Patent ductus arteriosus, Bicuspid aortic valv... OMIM:612474
Ciliary Dyskinesia, Primary, 33
Recurrent bronchitis, Bronchiectasis, Ciliary dyskinesia, Cough, Atelectasis, Chronic rhinitis, R... OMIM:616726
Ciliary Dyskinesia, Primary, 20
Bronchiectasis, Ciliary dyskinesia, Absent outer dynein arms, Recurrent sinusitis, Cough, Atelect... OMIM:615067
Johnson Neuroectodermal Syndrome
Carious teeth, Choanal stenosis, Ventricular septal defect, Conductive hearing impairment, Decrea... OMIM:147770
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Holoprosencephaly, Iris coloboma, Bilateral microphthalmos, Oral cleft, M... OMIM:611638
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Cerebrooculonasal Syndrome
Craniosynostosis, Narrow palate, Short nose, Downturned corners of mouth, Anteverted nares, Front... OMIM:605627
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Pachygyria, Frontal bossing, Ventricular septal defect, Hypoplasia of the c... OMIM:603387
Acute Interstitial Pneumonia
Subpleural honeycombing, Ground-glass opacification, Dyspnea, Interlobular septal thickening, Bro... ORPHA:79126
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Truncus arteriosus, Ventricular septal defect, Renal hypoplasia, Abnormality of the pinna, Renal ... OMIM:228940
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Chronic sinusitis, Recurrent bronchitis, Atelectasis OMIM:300455
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Multiple renal cysts, Ventricular septal defect, Micrognathia, Abnormal aortic mo... ORPHA:1166
14Q11.2 Microdeletion Syndrome
Long philtrum, Narrow mouth, Short nose, Ventricular septal defect, Low-set, posteriorly rotated ... ORPHA:261120
Infant Acute Respiratory Distress Syndrome
Respiratory tract infection, Pneumonia, Atelectasis, Respiratory failure, Pulmonary edema, Nasal ... ORPHA:70587
Septooptic Dysplasia
Absent septum pellucidum, Optic disc hypoplasia, Anterior pituitary hypoplasia, Optic nerve hypop... OMIM:182230
Surfactant Metabolism Dysfunction, Pulmonary, 2
Bronchiectasis, Interstitial pneumonitis, Cough, Respiratory insufficiency, Pulmonary arterial hy... OMIM:610913
Osteopoikilosis And Dacryocystitis
Dacryocystitis OMIM:166705
Microphthalmia, Syndromic 12
Cryptorchidism, Broad nasal tip, Ventricular septal defect, Hypoplastic left atrium, Wide nasal b... OMIM:615524
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Pulmonary Alveolar Proteinosis, Acquired
Lung abscess, Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, C... OMIM:610910
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Open mouth, Camptodactyly, Patent ductus arteriosus, Choanal atresia, Anencephaly... OMIM:619148
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Aplasia/Hypoplasia of the corpus ca... ORPHA:1908
Holoprosencephaly 9
Hypoplasia of the premaxilla, Cryptorchidism, Anterior pituitary hypoplasia, Solitary median maxi... OMIM:610829
Thymic Aplasia With Fetal Death
Truncus arteriosus, Pulmonary hypoplasia, Renal agenesis, Ureteral agenesis, Abnormality of the e... OMIM:274210
Temtamy Syndrome
Chorioretinal coloboma, Aplasia/Hypoplasia of the corpus callosum, Thick lower lip vermilion, Joi... ORPHA:1777
Isolated Congenital Alacrima
Lacrimal punctal atresia, Lacrimal gland hypoplasia, Conjunctivitis, Ptosis, Distichiasis ORPHA:91416
Chromosome 22Q11.2 Deletion Syndrome, Distal
Truncus arteriosus, Underdeveloped nasal alae, Smooth philtrum, Thin upper lip vermilion, Cleft p... OMIM:611867
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, Double outl... OMIM:179613
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus... OMIM:601927
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Reduced subcutaneous adipose tissue, Atelectasis, Recurrent pneu... OMIM:268500
Congenital Disorder Of Glycosylation, Type Iig
Cryptorchidism, Camptodactyly, Anemia, High palate, Renal insufficiency, Micrognathia, Thin upper... OMIM:611209
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Cryptorchidism, Bulbous nose, Interrupted aortic a... OMIM:192430
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Pulmonary arterial hypertension, Atelectasis, Neonatal asphyxia, ... ORPHA:70588
Agenesis Of The Corpus Callosum And Congenital Lymphedema
Long philtrum, Basal ganglia cysts, Wide anterior fontanel, Patent ductus arteriosus, Thin upper ... OMIM:613623
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Downturned corners of mouth, Ventricular septal defect, Large fontanelles, Fronta... ORPHA:93267
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Cl... ORPHA:3426
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Arthrogryposis, Distal, Type 2E
Absent antihelix, Arthrogryposis multiplex congenita, Narrow mouth, Joint contractures involving ... OMIM:121070
Pentalogy Of Cantrell
Atrial septal defect, Renal agenesis, Ventricular septal defect, Absent gallbladder, Polysplenia,... ORPHA:1335
Holoprosencephaly 3
Midface retrusion, Holoprosencephaly, Short columella, Abnormality of the nose, Single naris, Sol... OMIM:142945
Trisomy 1Q
Camptodactyly of finger, Cryptorchidism, Agenesis of corpus callosum, Narrow mouth, Frontal bossi... ORPHA:261344
Trisomy 13
Cryptorchidism, Abnormality of the antihelix, Calvarial skull defect, Patent ductus arteriosus, S... ORPHA:3378
Fryns Syndrome
Cryptorchidism, Omphalocele, Cerebral cortical atrophy, Vesicoureteral reflux, Congenital diaphra... ORPHA:2059
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Non-midline cleft lip, Anencephaly, Gastroschisis, Hypop... ORPHA:2476
Cerebrooculofacioskeletal Syndrome 1
Osteoporosis, Long philtrum, Thin vermilion border, Arthrogryposis multiplex congenita, Gliosis, ... OMIM:214150
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Ground-glass opacification, Restrictive ventilatory defect, Wheezing, Respiratory distress, Pulmo... OMIM:610978
Robinow Syndrome, Autosomal Recessive 2
Long philtrum, Broad nasal tip, Short nose, Frontal bossing, Midface retrusion, Camptodactyly, Ab... OMIM:618529
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Dextrocardia, Cleft palate, Microphthalmia, Anophthalmia, Micrognathia, Prominent nose OMIM:221950
8P23.1 Duplication Syndrome
Long philtrum, Ventricular septal defect, Thick vermilion border, Pulmonic stenosis, Adrenal insu... ORPHA:251076
Cryptogenic Organizing Pneumonia
Ground-glass opacification, Abnormal sputum, Wheezing, Restrictive ventilatory defect, Respirator... ORPHA:1302
Microcephaly-Capillary Malformation Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Hypoplasia of the corpus callosum, C... OMIM:614261
Emanuel Syndrome
Cryptorchidism, Dental crowding, Submucous cleft lip, Patent ductus arteriosus, Broad jaw, Congen... ORPHA:96170
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Abse... OMIM:617542
Hydrolethalus
Cryptorchidism, Hydrocephalus, Absent septum pellucidum, Micrognathia, Arrhinencephaly, Low-set, ... ORPHA:2189
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Bronchiectasis, Hypothyroidism, Dextrocardia, Hearing impairment,... OMIM:617577
Laryngotracheoesophageal Cleft
Dyspnea, Aspiration, Cough, Laryngeal cleft, Laryngomalacia, Neonatal respiratory distress, Cyano... ORPHA:2004
Holoprosencephaly 2
Median cleft lip and palate, Absent nasal septal cartilage, Adrenal hypoplasia, Single ventricle,... OMIM:157170
Congenital Hydrocephalus
Hydrocephalus, Iris coloboma, Macular hypoplasia, Small cerebral cortex, Abnormal cortical gyrati... ORPHA:2185
Weiss-Kruszka Syndrome
Colpocephaly, Short nose, Anteverted nares, Ventricular septal defect, Overfolded helix, Hypoplas... OMIM:618619
Craniofacioskeletal Syndrome
Cryptorchidism, Short philtrum, Atrial septal defect, Interrupted aortic arch, Ventricular septal... OMIM:300712
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Narrow mouth, Abnormal tricuspid valve morphology, Abnormal palate ... ORPHA:2412
Mosaic Trisomy 1
Omphalocele, Small anterior fontanelle, Oral cleft, Congenital diaphragmatic hernia, Elbow flexio... ORPHA:1692
Craniotelencephalic Dysplasia
Craniosynostosis, Hydrocephalus, Frontal bossing, Arrhinencephaly, Low-set, posteriorly rotated e... ORPHA:1528
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Right aortic arch with mirror image branching, Dextrocardia, Atrioventr... OMIM:606217
Chromosome 9P Deletion Syndrome
Narrow mouth, Patent ductus arteriosus, Omphalocele, Choanal atresia, Trigonocephaly, High palate... OMIM:158170
Idiopathic Acute Eosinophilic Pneumonia
Restrictive ventilatory defect, Abnormal pleura morphology, Cough, Respiratory insufficiency, Abn... ORPHA:724
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Premature ovarian insufficiency, Elevated circulating luteinizing hormone ... ORPHA:572333
Meckel Syndrome, Type 7
Atrial septal defect, Situs inversus totalis, Large fontanelles, Pancreatic cysts, Patent ductus ... OMIM:267010
Triploidy
Cryptorchidism, Macroglossia, Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Micrognath... ORPHA:3376
Spinal Muscular Atrophy, Type I
Respiratory failure, Recurrent respiratory infections, Respiratory insufficiency OMIM:253300
Burn-Mckeown Syndrome
Thin vermilion border, Short philtrum, Atrial septal defect, Narrow mouth, Hypomimic face, Ventri... OMIM:608572
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow nasal ridge, Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Bulbous nose... OMIM:236500
Stevenson-Carey Syndrome
Atrial septal defect, Narrow mouth, Downturned corners of mouth, Underdeveloped nasal alae, Pierr... OMIM:611961
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress, Abnormal trachea morphology, Laryngomalacia OMIM:150280
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Long philtrum, Cryptorchidism, Narrow mouth, Dental crowding, Microretrognathia, Camptodactyly, D... OMIM:300998
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Perlman Syndrome
Cryptorchidism, Nephroblastomatosis, Interrupted aortic arch, Nephrogenic rest, Open mouth, Long ... OMIM:267000
Gillessen-Kaesbach-Nishimura Syndrome
Convex nasal ridge, Wide anterior fontanel, Underdeveloped nasal alae, Abnormal heart morphology,... OMIM:263210
Thoracoabdominal Syndrome
Ventral hernia, Patent ductus arteriosus, Omphalocele, Anencephaly, Ectopia cordis, Cleft palate,... OMIM:313850
Renal-Hepatic-Pancreatic Dysplasia 2
Truncus arteriosus, Situs inversus totalis, Cystic renal dysplasia, Enlarged kidney, Hepatomegaly... OMIM:615415
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Cryptorchidism, Coloboma, Hypoplasia of the corpus callosum, Anterior pit... OMIM:206900
Meckel Syndrome, Type 4
Atrial septal defect, Ventricular septal defect, Hypoplasia of the corpus callosum, Anencephaly, ... OMIM:611134
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus c... ORPHA:2570
Diprosopus
Abnormality of the nose, Non-midline cleft lip, Anencephaly, Cleft palate, Abnormal cardiac septu... ORPHA:1681
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Agenesis of corpus callosum, Type II lissencephaly, Muscular dystrop... OMIM:615287
Miller-Dieker Syndrome
Short nose, Hypoplasia of the corpus callosum, Omphalocele, Nephropathy, Cerebral cortical atroph... ORPHA:531
Sonoda Syndrome
Depressed nasal bridge, Narrow mouth, Ventricular septal defect OMIM:270460
Familial Median Cleft Of The Upper And Lower Lips
Fusion of gums, Diastema, Abnormality of the maxilla, Irregular dentition, Cleft lower lip, Cleft... ORPHA:401942
Larynx Atresia
Recurrent respiratory infections, Respiratory insufficiency, Laryngomalacia ORPHA:1202
Microphthalmia With Brain And Digit Anomalies
Cryptorchidism, Chorioretinal coloboma, Abnormality of the hypothalamus-pituitary axis, High pala... ORPHA:139471
Pseudotrisomy 13 Syndrome
Cryptorchidism, Omphalocele, Dextrocardia, Micropenis, Hydrocephalus, Complete atrioventricular c... OMIM:264480
Laryngeal Abductor Paralysis
Respiratory insufficiency, Laryngomalacia ORPHA:2808
Mmep Syndrome
Cryptorchidism, Mandibular prognathia, Oral cleft, Microphthalmia, Microcephaly, Median cleft lip ORPHA:3434
Meckel Syndrome, Type 10
Frontal bossing, Abnormality of the pinna, Anencephaly, Renal cyst, Cleft palate, Hypospadias, Mi... OMIM:614175
Seizures, Benign Familial Infantile, 3
Apnea, Cyanosis OMIM:607745
Otodental Syndrome
Delayed eruption of teeth, Carious teeth, Abnormal dental enamel morphology, Pulp calcification, ... ORPHA:2791
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Cerebral cortical ... OMIM:618454
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Microcephaly, Right aortic arch with mirror image branching OMIM:107500
Carpenter Syndrome 1
Cryptorchidism, Lambdoidal craniosynostosis, Hydroureter, Camptodactyly, Patent ductus arteriosus... OMIM:201000
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Cyanosis, Stridor ORPHA:137935
Ane Syndrome
Abnormal response to ACTH stimulation test, Carious teeth, Hypogonadotropic hypogonadism, Adrenoc... ORPHA:157954
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Fetal Valproate Spectrum Disorder
Long philtrum, Thin vermilion border, Narrow mouth, Downturned corners of mouth, Short nose, Omph... ORPHA:1906
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Trisomy 18
Cryptorchidism, Narrow palate, Narrow mouth, Choanal atresia, Omphalocele, Anencephaly, Congenita... ORPHA:3380
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, High palate, Retrognathia, Microphthalmia, Brachycephaly, Microcephaly, Hypogonadism ORPHA:2528
Schisis Association
Spina bifida, Renal agenesis, Omphalocele, Anencephaly, Unilateral cleft lip, Congenital diaphrag... ORPHA:63862
1Q21.1 Microdeletion Syndrome
Long philtrum, Ankyloglossia, Cryptorchidism, Bulbous nose, Hydrocephalus, Interrupted aortic arc... ORPHA:250989
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the optic nerve, High palate, Hypoplasia of the thymus, Median cleft palate... ORPHA:40366
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Microcoria, Iris coloboma, Microphthalmia, Anophthalmia OMIM:616428
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Acute infectious pneumonia, Respiratory failure requiring a... ORPHA:140896
Baraitser-Winter Syndrome 1
Long philtrum, Cryptorchidism, Chorioretinal coloboma, Pachygyria, Iris coloboma, Wide mouth, Ora... OMIM:243310
Microphthalmia, Syndromic 8
Cryptorchidism, Mandibular prognathia, Oral cleft, Microcornea, Microphthalmia, Cleft upper lip, ... OMIM:601349
Cataract 9, Multiple Types
Developmental cataract, Iris coloboma, Cataract, Microcornea, Microphthalmia, Progressive cataract OMIM:604219
Progeroid Facial Appearance With Hand Anomalies
Thin vermilion border, Short philtrum, Narrow mouth, Frontal bossing, Conductive hearing impairme... OMIM:602249
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Convex nasal ridge, Carious teeth, Narrow mouth, Downturned corners of mouth, Macrotia, Abnormal ... ORPHA:1110
Alacrima, Congenital, Autosomal Dominant
Lacrimal punctal atresia, Lacrimal gland hypoplasia OMIM:103420
Vacterl/Vater Association
Cryptorchidism, Renal agenesis, Large fontanelles, Low-set, posteriorly rotated ears, Omphalocele... ORPHA:887
Whistling Face Syndrome, Recessive Form
Long philtrum, Narrow mouth, Underdeveloped nasal alae, Midface retrusion, Micrognathia, Camptoda... OMIM:277720
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Tricuspid atresia, Truncus arteriosus, Atrial septal defect, Interrupted aor... OMIM:617478
Cerebrooculofacioskeletal Syndrome 3
Arthrogryposis multiplex congenita, Microphthalmia, Cleft palate, Microcephaly, Micrognathia OMIM:616570
Isolated Exencephaly
Maternal diabetes, Abnormality of facial skeleton, Holoprosencephaly, Posterior pituitary agenesi... ORPHA:563612
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Ventricular septal defect, Megalencephaly, Abnormal localization of kidney, Polymic... ORPHA:83473
Kagami-Ogata Syndrome
Long philtrum, Diastasis recti, Atrial septal defect, Frontal bossing, Ventricular septal defect,... OMIM:608149
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Underdeveloped nasal alae, Patent ductus arteriosus, Choanal atresia, Anemia, Abs... ORPHA:163979
Renpenning Syndrome
Short philtrum, Narrow mouth, Macrotia, Decreased testicular size, Mandibular prognathia, Hypospa... ORPHA:3242
Ring Chromosome 8 Syndrome
Short nose, Frontal bossing, Abnormal palate morphology, Abnormality of the ureter, Round ear, Hy... ORPHA:1450
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Atrial septal defect, Cryptorchidism, Narrow mouth, Low-set... OMIM:615502
Ritscher-Schinzel Syndrome 1
Atrial septal defect, Adrenal hypoplasia, Ventricular septal defect, Micrognathia, Pulmonic steno... OMIM:220210
Frontonasal Dysplasia 1
Coloboma, Widely-spaced maxillary central incisors, Camptodactyly, Hypoplastic frontal sinuses, L... OMIM:136760
Pneumocystosis
Dyspnea, Interstitial pneumonitis, Exertional dyspnea, Parenchymal consolidation, Pleural effusio... ORPHA:723
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microcephaly, Polymicrogyria, Cortical dysplasia, Microphthalmia OMIM:615771
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Cryptorchidism, Thin vermilion border, Arthrogryposis multiplex congenita, Narrow mouth, Frontal ... OMIM:618766
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Seizures, Benign Familial Infantile, 1
Apnea, Cyanosis OMIM:601764
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Micrognathia, Overfolding of the superior helices, Mandibular cond... OMIM:614669
Alpha-1-Antitrypsin Deficiency
Wheezing, Chronic pulmonary obstruction, Dyspnea, Panacinar emphysema, Chronic bronchitis OMIM:613490
Tetraploidy
Convex nasal ridge, Short philtrum, Hypoplasia of the ear cartilage, Biparietal narrowing, Microg... ORPHA:3305
Distal Monosomy 13Q
Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Primary adrenal insufficiency, Anen... ORPHA:1590
Cofs Syndrome
Camptodactyly of finger, Arthrogryposis multiplex congenita, Everted lower lip vermilion, Death i... ORPHA:1466
Humero-Radial Synostosis
Chorioretinal coloboma, Tarsal synostosis, Elbow ankylosis, Iris coloboma, Meningocele, Microceph... ORPHA:3265
Solitary Median Maxillary Central Incisor
Coloboma, Cyclopia, Holoprosencephaly, Torus palatinus, Solitary median maxillary central incisor... OMIM:147250
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Type II lissencephaly, Joint laxity, High palate, Micrognathia, Hypoplasia of the corpus callosum... ORPHA:300570
Surfactant Metabolism Dysfunction, Pulmonary, 4
Ground-glass opacification, Restrictive ventilatory defect, Intraalveolar phospholipid accumulati... OMIM:300770
Cleft Larynx, Posterior
Cyanosis, Aspiration, Laryngeal stridor OMIM:215800
Hemifacial Microsomia
Anotia, Hypoplasia of facial musculature, Atresia of the external auditory canal, Patent ductus a... OMIM:164210
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Bronchiectasis, Pulmonary fibros... ORPHA:2032
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Opitz Gbbb Syndrome
Cryptorchidism, Craniosynostosis, Large fontanelles, Natal tooth, Patent ductus arteriosus, Ompha... ORPHA:2745
Trisomy 17P
Narrow mouth, Patent ductus arteriosus, Oral cleft, Skeletal muscle atrophy, High palate, Microgn... ORPHA:261290
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cryptorchidism, Macroglossia, Open mouth, Hypoplasia of the corpus callosum, Congenital muscular ... OMIM:613156
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hypoplasia of the corpus callosum, Anophthalmia, Microphthalmia, Cleft palate, Ag... OMIM:164180
C Syndrome
Cryptorchidism, Renal cortical cysts, Short nose, Ventricular septal defect, High palate, Patent ... OMIM:211750
Perching Syndrome
Respiratory distress, Depressed nasal bridge OMIM:617055
Tetraamelia-Multiple Malformations Syndrome
Cryptorchidism, Narrow mouth, Hydrocephalus, Iris coloboma, Oral cleft, Cataract, Abnormally ossi... ORPHA:3301
Donnai-Barrow Syndrome
Low-molecular-weight proteinuria, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal d... OMIM:222448
Oculoauriculofrontonasal Syndrome
Narrow mouth, Underdeveloped nasal alae, Ventricular septal defect, Conductive hearing impairment... ORPHA:398156
Laryngeal Web, Familial
Laryngeal web, Stridor, Respiratory distress, Recurrent upper respiratory tract infections OMIM:150360
Pleural Mesothelioma
Abnormal lung morphology, Dyspnea, Respiratory distress, Abnormal respiratory system physiology, ... ORPHA:50251
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Long philtrum, Cryptorchidism, Bulbous nose, Open mouth, Abnormal heart morphology, Renal hypopla... OMIM:618494
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Acute infectious pneumonia, Respirat... ORPHA:264675
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Pulmonary Capillary Hemangiomatosis
Ground-glass opacification, Pulmonary capillary hemangiomatosis, Interlobular septal thickening, ... ORPHA:199241
Autoimmune Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Intraalveolar phospholipid accumulation, Dyspnea, Cough, Crackles... ORPHA:747
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Atrial septal defect, Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Ventric... OMIM:208085
Pulmonary Hemosiderosis
Pulmonary fibrosis, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, Transient pul... OMIM:178550
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Iris coloboma, Corneal opacity, Bilateral cleft li... ORPHA:1473
Conotruncal Heart Malformations
Truncus arteriosus, Complete atrioventricular canal defect, Double outlet right ventricle, Coarct... OMIM:217095
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microcephaly, Microphthalmia, Chorioretinal dysplasia OMIM:616335
Warburg Micro Syndrome 1
Osteoporosis, Cryptorchidism, Developmental cataract, Thin vermilion border, Joint hypermobility,... OMIM:600118
2p15-16.1 microdeletion syndrome
Optic disc hypoplasia, Microcephaly, Hydronephrosis, Camptodactyly of finger DECIPHER:70
Lethal Congenital Contracture Syndrome 10
Long philtrum, Narrow palate, Ventricular septal defect, Omphalocele, Hypoplasia of the thymus, T... OMIM:617022
Walker-Warburg Syndrome
Cryptorchidism, Pachygyria, Chorioretinal dysplasia, Hydrocephalus, Absent septum pellucidum, Iri... ORPHA:899
Meckel Syndrome, Type 1
Cryptorchidism, Hypoplasia of the bladder, Natal tooth, Patent ductus arteriosus, Omphalocele, An... OMIM:249000
Acromelic Frontonasal Dysplasia
Cryptorchidism, Wide mouth, Hypopituitarism, Anterior pituitary hypoplasia, Meningocele, Median c... ORPHA:1827
Hydrolethalus Syndrome 1
Omphalocele, Anencephaly, Micrognathia, Median cleft lip, Arrhinencephaly, Complete atrioventricu... OMIM:236680
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Dyspnea, Cough, Decreased DLCO, Pulmonary venous occlusion, ... OMIM:234810
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Cryptorchidism, Iris coloboma, Tooth agenesis, Cleft upper lip, Cleft palate, Hypogonadotropic hy... OMIM:147950
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Narrow mouth, Broad nasal tip, Abnormal heart morphology, Conductive heari... OMIM:239800
Chromosome 14Q11-Q22 Deletion Syndrome
Long philtrum, Cryptorchidism, Narrow mouth, Short nose, Ventricular septal defect, Hypoplasia of... OMIM:613457
Digeorge Syndrome
Decreased circulating parathyroid hormone level, Patent ductus arteriosus, High palate, High, nar... OMIM:188400
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Blepharophimosis, Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Ptosis, Premature ova... ORPHA:126
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydrocele testis, Abnormal renal collecting system morphology, Narrow mouth, Hydroureter, Overfol... ORPHA:280633
Stankiewicz-Isidor Syndrome
Cryptorchidism, Pineal cyst, Truncus arteriosus, Ventricular septal defect, Patent ductus arterio... OMIM:617516
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Abnormal cerebral white matter mo... OMIM:613153
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Long philtrum, Facial hypotonia, Narrow mouth, Mitral valve prolapse, Dental crowding, Midface re... OMIM:615539
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Porencephalic cyst, Horseshoe kidney, Cystic renal dysplasia, Arrhinencephaly, Fu... OMIM:156810
Combined Pituitary Hormone Deficiencies, Genetic Forms
Pituitary hypothyroidism, Anterior pituitary hypoplasia, Delayed puberty, Decreased testicular si... ORPHA:95494
Distal Tetrasomy 15Q
Hydrocele testis, Craniosynostosis, Camptodactyly, Patent ductus arteriosus, Sensorineural hearin... ORPHA:314588
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Patent ductus arteriosus, Neutropenia, Cor triatriatum, Leukopenia, Anemia, High ... OMIM:612541
17P13.3 Microduplication Syndrome
Narrow mouth, Frontal bossing, Short nose, Hypoplasia of the corpus callosum, Inguinal hernia, Hy... ORPHA:217385
Septo-Optic Dysplasia Spectrum
Cryptorchidism, Maternal diabetes, Abnormality of the hypothalamus-pituitary axis, Absent septum ... ORPHA:3157
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Cataract, Microcornea, Microphthalmia, Simplified gyral pattern, Microcephaly, ... OMIM:616171
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Occipital cortical atrophy, Bulbous nose, Broad nasal tip, Hypoplasia of the corp... ORPHA:411986
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Wide anterior fontanel, Ventricular septal defect, Sho... ORPHA:2143
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Camptodactyly, Dysplastic corpus callosum, Cleft upper lip, Cleft palate, Joint contracture of th... OMIM:601016
Charge Syndrome
Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Narrow mouth, Overfolded helix, Patent duct... ORPHA:138
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Short philtrum, Atrial septal defect, Arthrogryposis multiplex congenita, Narrow ... ORPHA:352490
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Microphthalmia, Cleft upper lip, Cleft palate, Agenesis of corpus callosum OMIM:614402
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Hypothalamic luteinizing hormone-releasing hormone deficiency, Pituitary hypothyroidism, Decrease... ORPHA:231720
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Hypoplasia of the premaxilla, Narrow mouth, Omphalocele, Oral cleft, Renal hypopl... ORPHA:2166
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Hydroureter, Patent ductus arteriosus, Omphalocele, Alveolar... OMIM:265380
22Q11.2 Deletion Syndrome
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Small earlobe, Narrow mouth, Bu... ORPHA:567
Microphthalmia, Isolated, With Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Feingold Syndrome Type 1
Renal insufficiency, Nephritis, Horseshoe kidney, Tricuspid atresia, Interrupted aortic arch, Abn... ORPHA:391641
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Arthrogryposis multiplex congenita, Nephrogenic diabetes insipidus, Ventricular septal defect, Ne... OMIM:613404
Bronchogenic Cyst
Abnormal sputum, Dyspnea, Abnormal pleura morphology, Cough, Pneumonia, Pulmonary cyst, Bronchoge... ORPHA:2357
Teebi Hypertelorism Syndrome
Long philtrum, Atrial septal defect, Craniosynostosis, Short nose, Frontal bossing, Ventricular s... OMIM:145420
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Decreased testicular size, Bi... ORPHA:2326
Idiopathic Bronchiectasis
Respiratory tract infection, Wheezing, Dyspnea, Bronchiectasis, Emphysema, Acute infectious pneum... ORPHA:60033
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Hypoplasia of the premaxilla, Median cleft lip a... OMIM:610828
Meier-Gorlin Syndrome 8
Narrow mouth, Renal hypoplasia, Bilateral cryptorchidism, Thick vermilion border, Microcephaly, M... OMIM:617564
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Abnormal oral cavity morphology, Narrow mouth, Short nose, Depressed nasal ridge, Hypospadias, An... ORPHA:1355
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Thin vermilion border, Narrow mouth, Abnormality of the ureter, Splenomegaly, Aplasia/Hypoplasia ... ORPHA:1046
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Pancreatic hypoplasia, Pulmonary artery stenosis, Congenital diaphragma... OMIM:600001
Isotretinoin-Like Syndrome
Anotia, Abnormality of the pulmonary veins, Thin anteverted nares, Aplasia/Hypoplasia of the inne... ORPHA:2306
Meckel Syndrome, Type 8
Hyperechogenic kidneys, Short nose, Anophthalmia, Microphthalmia, Cleft upper lip, Cleft palate, ... OMIM:613885
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Atrial septal defect, Aortopulm... OMIM:208530
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Narrow mouth, Bulbous nose, Wide nasal bridge, Cupped ear, Cleft palate, Mi... ORPHA:93946
Alazami-Yuan Syndrome
Long philtrum, Cryptorchidism, Narrow mouth, Underdeveloped nasal alae, Dental crowding, High pal... OMIM:617126
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Pulmonary Non-Tuberculous Mycobacterial Infection
Pulmonary opacity, Abnormal sputum, Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmon... ORPHA:411703
Hypomelanosis Of Ito
Irregularly spaced teeth, Cerebral atrophy, Iris coloboma, Cataract, Microcephaly, Thick lower li... OMIM:300337
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Hypoplasia of the corpus callosum, Microcephaly, Cleft upper lip, Cleft palate OMIM:601420
Stromme Syndrome
Hydrocephalus, Stillbirth, Iris coloboma, Wide mouth, Cataract, Peters anomaly, Cleft palate, Opt... OMIM:243605
Miller-Dieker Lissencephaly Syndrome
Cryptorchidism, Camptodactyly, Omphalocele, Agyria, Pelvic kidney, Micrognathia, Cavum septum pel... OMIM:247200
8Q12 Microduplication Syndrome
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Everted lower lip v... ORPHA:228399
Microgastria-Limb Reduction Defect Syndrome
Crossed fused renal ectopia, Congenital muscular torticollis, Anophthalmia, Renal hypoplasia/apla... ORPHA:2538
Acalvaria
Aplasia/Hypoplasia of the cerebellum, Spina bifida, Calvarial skull defect, Holoprosencephaly, Om... ORPHA:945
Bresek Syndrome
Cryptorchidism, Decreased testicular size, Iris coloboma, Neonatal death, Optic nerve hypoplasia,... ORPHA:85284
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Reduced maximal inspiratory pressure, Respiratory insuffi... ORPHA:266
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Type II lissencephaly, Coloboma, Oral cleft, Ocular anterior segment dysg... ORPHA:324416
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Cryptorchidism, Unicoronal synostosis, Macrotia, Renal hypoplasia, Midface retrusion, Microretrog... OMIM:616300
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Narrow mouth, Abnormal heart valve morphology, Centrally nucleated skeletal mus... ORPHA:169186
Temtamy Syndrome
Long philtrum, Chorioretinal coloboma, Hypoplasia of teeth, Dental crowding, Lens luxation, Ectop... OMIM:218340
Cerebrooculonasal Syndrome
Long philtrum, Macrotia, Low-set, posteriorly rotated ears, Anophthalmia, Abnormality of the nare... ORPHA:66625
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency OMIM:616081
Pulmonary Fibrosis, Idiopathic
Dyspnea, Pulmonary fibrosis, Alveolar cell carcinoma, Exertional dyspnea, Cough, Elevated broncho... OMIM:178500
Chronic Beryllium Disease
Ground-glass opacification, Abnormality on pulmonary function testing, Dyspnea, Pulmonary fibrosi... ORPHA:133
Linear Verrucous Nevus Syndrome
Aplasia/Hypoplasia of the fovea, Aplasia/Hypoplasia of the corpus callosum, Iris coloboma, Catara... ORPHA:2611
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Narrow mouth, Short nose, Hypoplasia of the corpus callosum, Abnormal pa... ORPHA:1495
Distal Trisomy 6P
Thin vermilion border, Narrow mouth, Frontal bossing, Renal hypoplasia, Micrognathia, Abnormality... ORPHA:1745
Craniotelencephalic Dysplasia
Craniosynostosis, Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve h... OMIM:218670
Xk Aprosencephaly Syndrome
Atrial septal defect, Narrow mouth, Ventricular septal defect, Abnormality of the nares, Micropht... ORPHA:3469
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Holoprosencephaly, Iris coloboma, Microphthalmia, Sclerocornea, An... ORPHA:77298
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia
High palate, Retrognathia, Iris coloboma, Agenesis of corpus callosum OMIM:300472
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left atrial enlargement, Left ventricular hypertrophy OMIM:115210
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Iris coloboma, Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia OMIM:610023
Axial Mesodermal Dysplasia Spectrum
Micrognathia, Abnormality of the urinary system, Omphalocele, Abnormality of the ureter, Abnormal... ORPHA:1834
Gorlin Syndrome
Cryptorchidism, Carious teeth, Mandibular prognathia, Iris coloboma, Vertebral fusion, Cataract, ... ORPHA:377
Distal Trisomy 15Q
Long philtrum, Camptodactyly of finger, Cryptorchidism, Downturned corners of mouth, High palate,... ORPHA:1707
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Coloboma, Cataract, Microphthalmia, Cleft upper lip, Cleft palate OMIM:120433
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Hypercapnia, Respiratory failure, Respiratory insufficiency OMIM:267480
Glycogen Storage Disease 0, Muscle
Left atrial enlargement, Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiom... OMIM:611556
Myopathy, Congenital, With Tremor
EMG: myopathic abnormalities, Scapular winging, Prominent nasolabial fold, Narrow mouth, Flexion ... OMIM:618524
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Wormian bones, Narrow mouth, Midface retrusion, Brachyturricephaly, Hi... OMIM:613849
Short-Rib Thoracic Dysplasia 12
Natal tooth, Patent ductus arteriosus, Hamartoma of tongue, Anencephaly, Omphalocele, Lobulated t... OMIM:269860
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Abnormal pulmonary interstitial morphology, Diffuse alv... ORPHA:178320
Meckel Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the tongue, Anencephaly, Pancreatic fibrosis, Anophthalmia,... ORPHA:564
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Dyspnea, Cough, Respiratory failure requiring assisted ventilation, Respiratory failure, Aspirati... ORPHA:90117
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Abnormality of the antihelix, Proteinuria, ... ORPHA:2162
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
EMG: myopathic abnormalities, Macroglossia, Scapular winging, Abnormal macrophage morphology, Inc... ORPHA:353
Gombo Syndrome
Microcephaly, Delayed puberty, Microphthalmia OMIM:233270
Adams-Oliver Syndrome 6
Renal hypoplasia, Truncus arteriosus, Calvarial skull defect, Ventricular septal defect OMIM:616589
Distal Monosomy 17Q
Narrow mouth, Abnormality of the philtrum, Aplasia/Hypoplasia of the uvula, Low-set, posteriorly ... ORPHA:1597
Biemond Syndrome Ii
Iris coloboma, Hydrocephalus, Abnormality of the endocrine system OMIM:210350
Pituitary Hormone Deficiency, Combined, 3
Anterior pituitary hypoplasia, Decreased response to growth hormone stimuation test, Anterior hyp... OMIM:221750
Baraitser-Winter Syndrome 2
Long philtrum, Pachygyria, Coloboma, Wide mouth, Oral cleft, Thin upper lip vermilion, Microphtha... OMIM:614583
Left Ventricular Noncompaction 1
Ventricular septal defect, Patent ductus arteriosus, Hypoplastic left heart, Left ventricular hyp... OMIM:604169
Marden-Walker Syndrome
Hypoplasia of the brainstem, Cryptorchidism, Narrow mouth, Camptodactyly, Dextrocardia, Inferior ... OMIM:248700
Staphylococcal Necrotizing Pneumonia
Abnormal sputum, Tachypnea, Respiratory distress, Dyspnea, Parenchymal consolidation, Pleural eff... ORPHA:36238
Lacrimal Duct Defect
Lacrimal duct atresia, Dacryocystocele, Conjunctivitis, Dacryocystitis OMIM:149700
Suleiman-El-Hattab Syndrome
Cryptorchidism, Downturned corners of mouth, Overfolded helix, Patent foramen ovale, High palate,... OMIM:618950
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Chorioretinal coloboma, Cataract, Iris coloboma, Microphthalmia OMIM:212550
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Laryngomalacia, Upper airwa... ORPHA:137914
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Long philtrum, Cryptorchidism, Facial hypotonia, Narrow mouth, Renal atrophy, Midface retrusion, ... OMIM:618659
Terminal Osseous Dysplasia
Camptodactyly of finger, Abnormal hand bone ossification, Camptodactyly of toe, Iris coloboma, Mu... OMIM:300244
Split-Hand/Foot Malformation 3
Narrow mouth, Renal hypoplasia, Microretrognathia, Camptodactyly, Abnormality of the pinna, Cleft... OMIM:246560
6P22 Microdeletion Syndrome
Overfolded helix, Abnormal palate morphology, Patent ductus arteriosus, Hearing impairment, Hydro... ORPHA:251046
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Narrow mouth, Open mouth, Dental crowding, Patent ductus arteriosus, Delayed pube... OMIM:300967
Nemaline Myopathy 8
Respiratory failure, Death in infancy OMIM:615348
Marshall-Smith Syndrome
Prominence of the premaxilla, Choanal stenosis, Overfolded helix, Patent ductus arteriosus, Ompha... OMIM:602535
Dihydropyrimidine Dehydrogenase Deficiency
Coloboma, Cerebral atrophy, Microphthalmia, Microcephaly, Agenesis of corpus callosum OMIM:274270
Otopalatodigital Syndrome Type 2
Oligodontia, Narrow mouth, Large fontanelles, Hypoplastic frontal sinuses, Omphalocele, Micrognat... ORPHA:90652
Intellectual Disability-Cataracts-Kyphosis Syndrome
Iris coloboma, Thick vermilion border, Cataract, Knee flexion contracture, Elbow flexion contracture ORPHA:171860
Frontofacionasal Dysplasia
Brushfield spots, Hypoplasia of the corpus callosum, Iris coloboma, Non-midline cleft lip, Catara... ORPHA:1791
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Narrow mouth, Camptodactyly, Irregular dentition, Hearing impairment, Intestinal lymphangiectasia... OMIM:616006
Frontorhiny
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Hypoplastic frontal sinuses, ... ORPHA:391474
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Carious teeth, Abnormal palate morphology, Abnormality of the dentition, Multicystic kidney dyspl... ORPHA:3270
Robinow Syndrome, Autosomal Dominant 3
Cryptorchidism, Hypoplastic right heart, Downturned corners of mouth, Camptodactyly, Patent ductu... OMIM:616894
14Q22Q23 Microdeletion Syndrome
Cryptorchidism, Adrenal hypoplasia, Downturned corners of mouth, Abnormality of the hypothalamus-... ORPHA:264200
Acrocardiofacial Syndrome
Camptodactyly of finger, Cryptorchidism, Atrial septal defect, Truncus arteriosus, Ventricular se... ORPHA:2008
Pterygium Of Conjunctiva And Cornea
Pterygium, Abnormal conjunctiva morphology OMIM:178000
Macdermot-Winter Syndrome
Camptodactyly of finger, Macrotia, Posteriorly rotated ears, Hydronephrosis, Microcephaly OMIM:247990
Myopathy, Centronuclear, 5
Narrow mouth, Facial palsy, Hip contracture, Dilated cardiomyopathy, High palate, Retrognathia, M... OMIM:615959
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Cryptorchidism, Downturned corners of mouth, Decreased circulating T4 level, Central hypothyroidi... ORPHA:177901
Fetal Encasement Syndrome
Anotia, Increased urinary 8-oxo-7,8-dihydroguanosine level, Aplasia of the sweat glands, Mandibul... OMIM:613630
Kahrizi Syndrome
Thick lower lip vermilion, Iris coloboma, Cataract, Knee flexion contracture, Elbow flexion contr... OMIM:612713
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hypertrophy, Left ventricular nonc... OMIM:601493
Classic Multiminicore Myopathy
Mitral valve prolapse, Increased muscle lipid content, Microretrognathia, Congenital muscular dys... ORPHA:324604
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Left superior vena cava draining t... ORPHA:185
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Large fontanelles, Dental crowding, Overfolded helix,... OMIM:300373
Encephalocraniocutaneous Lipomatosis
Cryptorchidism, Porencephalic cyst, Agenesis of corpus callosum, Atrial septal defect, Subcutaneo... OMIM:613001
Kapur-Toriello Syndrome
Pachygyria, Retinal coloboma, Iris coloboma, Oral cleft, Dysplastic corpus callosum, Polymicrogyr... ORPHA:2328
Cantu Syndrome
Long philtrum, Pericardial effusion, Patent ductus arteriosus, Thick upper lip vermilion, Umbilic... OMIM:239850
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Waardenburg Syndrome Type 3
Acrocyanosis, Narrow nasal bridge, Tracheomalacia, Atelectasis ORPHA:896
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Atrial septal defect, Narrow mouth, Hypoplasia of the maxilla, ... ORPHA:261295
Sarcoidosis, Susceptibility To, 2
Restrictive ventilatory defect, Dyspnea, Bronchiectasis, Pulmonary fibrosis, Pleural effusion, Em... OMIM:612387
Congenital Laryngeal Web
Stridor, Respiratory distress, Laryngomalacia ORPHA:2374
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Abnormal renal corticomedullary differentiation, Renal dysplasia, Hearing im... OMIM:616733
Tonne-Kalscheuer Syndrome
Cryptorchidism, Narrow mouth, Downturned corners of mouth, Abnormal heart morphology, Decreased t... OMIM:300978
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Thin vermilion border, Narrow mouth, Short nose, Low-set, posteriorly rotated ears, Abnormal card... ORPHA:2370
Takenouchi-Kosaki Syndrome
Cryptorchidism, Abnormal periventricular white matter morphology, Downturned corners of mouth, Bu... OMIM:616737
Bardet-Biedl Syndrome 16
Respiratory distress, Recurrent respiratory infections, Bronchiolitis OMIM:615993
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Oral synechia, Cleft palate, Micrognathia ORPHA:2016
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Large fontanelles, Hydrouret... OMIM:259775
Microphthalmia, Syndromic 5
Cryptorchidism, Joint laxity, Coloboma, Ectopic posterior pituitary, Cataract, Cleft palate, Micr... OMIM:610125
Kleefstra Syndrome
Cryptorchidism, Downturned corners of mouth, Mandibular prognathia, Cerebral cortical atrophy, Ve... ORPHA:261494
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary opacity, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Abnormal pu... ORPHA:217563
Prader-Willi Syndrome Due To Translocation
Carious teeth, Downturned corners of mouth, Anterior pituitary hypoplasia, Cerebral cortical atro... ORPHA:177907
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Exertional dyspnea, Pulmonary fibrosis, Bronchiolitis ORPHA:254361
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Hepatomegaly, Sensorineural hearing impairment, Left ventricular hypertrophy, Car... OMIM:617713
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Respiratory failure, Respiratory insufficiency, Wide nasal bridge OMIM:610127
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Oral cleft, High, narrow palate, Micrognathia, Hydrocephalu... ORPHA:7
Mosaic Trisomy 14
Camptodactyly of finger, Cryptorchidism, Frontal bossing, Micrognathia, Low-set, posteriorly rota... ORPHA:1703
Lambotte Syndrome
Semilobar holoprosencephaly, Convex nasal ridge, Narrow mouth, Macrotia, Ventricular septal defec... OMIM:245552
Renal Tubular Dysgenesis
Multiple renal cysts, Proximal tubulopathy, Renotubular dysgenesis, Nephropathy, Pulmonary hypopl... ORPHA:3033
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Narrow mouth, High palate, Wide nasal bridge, Thin upper lip vermilion, Hearing i... OMIM:617930
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Cryptorchidism, Downturned corners of mouth, Decreased circulating T4 level, Central hypothyroidi... ORPHA:98754
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:605711
Thakker-Donnai Syndrome
Communicating hydrocephalus, Narrow mouth, Downturned corners of mouth, Ventricular septal defect... ORPHA:1780
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Nephronophthisis, Macroglossia, Craniosynostosis, Frontal bossing, High palate, Wide mouth, Nephr... OMIM:266920
Arthrogryposis Multiplex Congenita 6
Neonatal death, Respiratory failure, Death in infancy, Death in childhood OMIM:619334
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Underdeveloped nasal alae, Recurrent urinary tract infections, Choanal atresia, Sen... ORPHA:261330
Cockayne Syndrome Type 2
Enamel hypoplasia, Cryptorchidism, Developmental cataract, Delayed eruption of primary teeth, Mal... ORPHA:90322
Aredyld Syndrome
Abnormal dental enamel morphology, Narrow mouth, Craniofacial hyperostosis, Low-set, posteriorly ... ORPHA:1133
Arthrogryposis, Distal, Type 1C
Pursed lips, Shoulder flexion contracture, Thin vermilion border, Camptodactyly of finger, Crypto... OMIM:619110
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia, Wormian bones, Increased T3/T4 ratio, Omphalocele, Impai... OMIM:614450
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Cryptorchidism, Downturned corners of mouth, Decreased circulating T4 level, Central hypothyroidi... ORPHA:98793
Mental Retardation, Autosomal Dominant 26
Wide nasal base, Short philtrum, Arthrogryposis multiplex congenita, Narrow mouth, Wide mouth, Th... OMIM:615834
Holoprosencephaly 1
Median cleft lip and palate, Adrenal hypoplasia, Single ventricle, Ethmocephaly, Midface retrusio... OMIM:236100
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Camptodactyly of finger, Spina bifida, Scapular winging, Narrow mouth, Downturned corn... ORPHA:1327
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Narrow mouth, N... ORPHA:990
Cataract 21, Multiple Types
Cortical pulverulent cataract, Iris coloboma, Cerulean cataract, Macular hypoplasia, Microcornea OMIM:610202
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Ventricular septal defect, Conductive hearing impairment, Micro... ORPHA:1393
Agnathia-Otocephaly Complex
Mandibular aplasia, Situs inversus totalis, Narrow mouth, Aglossia, Laryngeal hypoplasia, Conduct... OMIM:202650
Histiocytosis, Familial Lipochrome
Pulmonary infiltrates OMIM:235900
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Cryptorchidism, Downturned corners of mouth, Decreased circulating T4 level, Central hypothyroidi... ORPHA:177904
Neural Tube Defects, Susceptibility To
Lipoma, Anencephaly, Urinary incontinence, Multiple lipomas, Spina bifida occulta, Myelomeningoce... OMIM:182940
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Thin vermilion border, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequence, Low-set,... ORPHA:1150
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Oligodontia, Long philtrum, Tooth malposition, Radioulnar synostosis, ... ORPHA:2712
Prader-Willi-Like Syndrome
Cryptorchidism, Downturned corners of mouth, Decreased circulating T4 level, Central hypothyroidi... ORPHA:398073
Trigonocephaly 1
Craniosynostosis, Long penis, Omphalocele, Trigonocephaly, Microcephaly OMIM:190440
Focal Dermal Hypoplasia
Open bite, Abnormal dental enamel morphology, Patent ductus arteriosus, Omphalocele, Aplasia/Hypo... ORPHA:2092
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Long philtrum, Thin vermilion border, Elevated circulating luteinizing hormone level, Diastasis r... OMIM:618419
Tarp Syndrome
Prominent antihelix, Horseshoe kidney, Large fontanelles, Tongue nodules, Cerebellar vermis hypop... OMIM:311900
Abruzzo-Erickson Syndrome
Cryptorchidism, Chorioretinal coloboma, Radioulnar synostosis, Coloboma, Abnormal palate morpholo... ORPHA:921
X-Linked Intellectual Disability, Schimke Type
Secondary microcephaly, Cerebral cortical atrophy, Hearing impairment, Vesicoureteral reflux, Hyd... ORPHA:85285
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Horseshoe kidney, Single ventricle, Ventricular septal defect, Mitral atres... OMIM:306955
Myopathy, Congenital, Progressive, With Scoliosis
Cryptorchidism, Facial hypotonia, Renal atrophy, Congenital contracture, Posteriorly rotated ears... OMIM:618578
Simpson-Golabi-Behmel Syndrome, Type 2
Short nose, Anteverted nares, Recurrent upper respiratory tract infections, Deep philtrum, Wide m... OMIM:300209
Culler-Jones Syndrome
Cryptorchidism, Hypopituitarism, Ectopic posterior pituitary, Anterior pituitary hypoplasia, Clef... OMIM:615849
Gaucher Disease Type 2
Abnormal pattern of respiration, Cough, Recurrent respiratory infections, Respiratory distress ORPHA:77260
Lethal Osteosclerotic Bone Dysplasia
Dyspnea, Short nose, Respiratory distress, Respiratory failure, Anteverted nares ORPHA:1832
Frontoocular Syndrome
Atrial septal defect, Narrow mouth, Posteriorly rotated ears, Pulmonic stenosis, Trigonocephaly, ... OMIM:605321
Pierpont Syndrome
Cryptorchidism, Thin vermilion border, Joint laxity, Everted lower lip vermilion, Long upper lip,... ORPHA:487825
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Oligodontia, Narrow palate, Narrow mouth, Pericardial effusion, Camptodactyly, Ve... OMIM:235510
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Restrictive cardiomyopathy, Left ventricular hypertrophy, Left ventricula... OMIM:613424
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Hypoplasia of the ... OMIM:617360
Cataract-Microcornea Syndrome
Iris coloboma, Corneal opacity, Cataract, Microcornea, Corneal dystrophy ORPHA:1377
Fryns Syndrome
Cryptorchidism, Hypoplasia of the optic tract, Camptodactyly, Hypoplasia of olfactory tract, Omph... OMIM:229850
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy OMIM:225753
Microform Holoprosencephaly
Panhypopituitarism, Short philtrum, Maternal diabetes, Cyclopia, Hypothyroidism, Holoprosencephal... ORPHA:280200
Omphalocele-Cleft Palate Syndrome, Lethal
Bifid uvula, Omphalocele, Hydrocephalus, Cleft palate OMIM:258320
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency ORPHA:3188
Treacher-Collins Syndrome
Open bite, Cryptorchidism, Abnormal dental enamel morphology, Narrow mouth, Narrow internal audit... ORPHA:861
Diets-Jongmans Syndrome
Cryptorchidism, Broad nasal tip, Ventricular septal defect, Interrupted inferior vena cava with a... OMIM:618846
Hartsfield Syndrome
Craniosynostosis, Aplasia/Hypoplasia of the corpus callosum, Non-midline cleft lip, Microphthalmi... ORPHA:2117
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Panhypopituitarism, Macroglossia, Decreased circulating ACTH level, Agenesis of corpus callosum, ... ORPHA:226307
Chromosome 2P16.1-P15 Deletion Syndrome
Cryptorchidism, Camptodactyly, Sensorineural hearing impairment, Cortical dysplasia, High palate,... OMIM:612513
Allergic Bronchopulmonary Aspergillosis
Bronchiectasis, Emphysema, Cough, Respiratory insufficiency, Asthma, Hemoptysis, Pulmonary arteri... ORPHA:1164
Williams-Beuren Region Duplication Syndrome
Cryptorchidism, Short philtrum, Overfolded helix, Hypoplasia of the corpus callosum, Cerebellar v... OMIM:609757
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Hydrocephalus, Death in infancy, Microglossia, Cleft palate, Micrognathia... OMIM:241800
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Absent gallbladder, Holoprosencephaly, Atresia of the external auditory canal, Omphalocele, Abnor... ORPHA:3186
Teebi-Shaltout Syndrome
Small earlobe, Oligodontia, Narrow mouth, Underdeveloped nasal alae, Camptodactyly, High, narrow ... OMIM:272950
Mental Retardation, Autosomal Dominant 43
Narrow mouth, Hypoplasia of the corpus callosum, Cerebral atrophy, Wide nasal bridge, Microcephal... OMIM:616977
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Tracheal atresia, Respiratory insufficiency OMIM:601612
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Muscular dystrophy, Flexion contracture, Pneumonia, Calf muscle pseudohypertrophy, Right ventricu... OMIM:253700
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Craniosynostosis, Narrow mouth, Cardiomegaly, Abnormally large globe, Aortic root aneurysm, Conge... OMIM:245600
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Cleft palate, Micrognathia, Agenesis of corpus callosum OMIM:614120
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Congenital Fibrinogen Deficiency
Splenic rupture, Hemorrhagic ovarian cyst, Right ventricular hypertrophy, Microphthalmia, Left ve... ORPHA:335
Charge Syndrome
Cryptorchidism, Patent ductus arteriosus, Omphalocele, Choanal atresia, Delayed puberty, Double o... OMIM:214800
Anophthalmia Plus Syndrome
Spina bifida, Iris coloboma, Bilateral cleft lip and palate, Non-midline cleft lip, Anophthalmia,... ORPHA:1104
Coffin-Siris Syndrome 10
Ventricular septal defect, Wide mouth, Persistence of primary teeth, Laryngomalacia, Posteriorly ... OMIM:618506
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Congenital hypothyroidism, Pancreatic hypoplasia, Neonatal insulin-depe... ORPHA:2255
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Narrow mouth, Calvarial skull defect, Wide nasal bridge, Posteriorly rotated ears... OMIM:224410
Desmosterolosis
Narrow mouth, Patent ductus arteriosus, Renal hypoplasia/aplasia, Micrognathia, Hydrocephalus, De... ORPHA:35107
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Macrotia, Cerebellar hypoplasia, Hydranencephaly, Multip... OMIM:605013
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Cryptorchidism, Dextrocardia, High, narrow palate, Micrognathia, Micro... ORPHA:96092
49,Xxxxy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathi... ORPHA:96264
Flat Face-Microstomia-Ear Anomaly Syndrome
Long philtrum, Camptodactyly of finger, Cryptorchidism, Abnormality of the antihelix, Narrow mout... ORPHA:1968
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Long philtrum, Short philtrum, Narrow mouth, Hypoplasia of the corpus callosum, Cerebral atrophy,... OMIM:618443
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Open mout... ORPHA:1600
Hypothyroidism, Congenital, Nongoitrous, 4
Macroglossia, Wide anterior fontanel, Omphalocele, Umbilical hernia, Congenital hypothyroidism, D... OMIM:275100
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Cryptorchidism, Laryngeal stridor, Inferior vermis hypoplasia, Alveo... ORPHA:444072
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Pelvic kidney, Micrognathia, Long philtrum, Truncus arteriosus, Hypoplasia... ORPHA:508498
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Arthrogryposis multiplex congenita, Craniosynostosis, Global brain atrophy, Dupli... OMIM:301056
Faciocardiorenal Syndrome
Horseshoe kidney, Narrow mouth, Underdeveloped nasal alae, Endocardial fibroelastosis, Smooth phi... ORPHA:1973
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Meckel Syndrome, Type 2
Anencephaly, Meningocele, Renal cyst, Microphthalmia, Cleft palate, Bile duct proliferation, Dand... OMIM:603194
3Mc Syndrome 1
Abnormality of the abdominal wall, Atrial septal defect, Lambdoidal craniosynostosis, Wide anteri... OMIM:257920
Vacterl With Hydrocephalus
Anotia, Cryptorchidism, Spina bifida, Renal agenesis, Micrognathia, Arrhinencephaly, Anophthalmia... ORPHA:3412
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Buphthalmos, Persistent pupillary membrane, Macroglossia, Pachygyria, Type II lissencephaly, Hydr... OMIM:613150
Thomas Syndrome
Multicystic kidney dysplasia, Hypoplastic left heart, Cleft upper lip, Cleft palate, Renal hypopl... ORPHA:3316
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Narrow mouth, Abnormal cerebral white matter morphology, Thin upper lip vermilion, Prominent nose... OMIM:617755
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Atrial septal defect, Craniosynostosis, Broad nasal tip, Downturned corners of mo... ORPHA:457193
Hypertrichosis Cubiti
Abnormal eyelid morphology, Abnormal eyelash morphology, Abnormal nasolacrimal system morphology,... ORPHA:2220
3Q29 Microduplication Syndrome
Aniridia, Craniosynostosis, Camptodactyly of toe, High palate, Deep philtrum, Iris coloboma, Abno... ORPHA:251038
Intellectual Disability, Buenos-Aires Type
Open bite, Biparietal narrowing, Abnormality of dental morphology, Macrotia, High palate, Mandibu... ORPHA:3079
Usher Syndrome, Type 1M
Prelingual sensorineural hearing impairment, Left ventricular hypertrophy OMIM:618632
Primary Pulmonary Hypoplasia
Abnormal breath sound, Apnea, Restrictive ventilatory defect, Abnormal pulmonary artery morpholog... ORPHA:2257
Charlie M Syndrome
Short philtrum, Thin vermilion border, Narrow mouth, Macrotia, Non-midline cleft lip, Tooth agene... ORPHA:1406
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Abnormal renal collecting system morphology, Patent ductus arteriosus, Oral cleft, Sensorineural ... ORPHA:17
Microphthalmia With Limb Anomalies
Short nose, Frontal bossing, Deep philtrum, Anophthalmia, Posteriorly rotated ears, Flared nostri... OMIM:206920
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Pelvis-Shoulder Dysplasia
Camptodactyly of finger, Spina bifida, Retinal coloboma, Iris coloboma, Bilateral microphthalmos,... ORPHA:2839
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
Weaver-Williams Syndrome
Microcephaly, Protruding ear, Narrow mouth, Cleft palate ORPHA:3448
Cranioectodermal Dysplasia 2
Craniosynostosis, Patent ductus arteriosus, Patent foramen ovale, High palate, Bile duct prolifer... OMIM:613610
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Frontal bossing, Hypoplasia of the corpus callosum, Patent ductus arteriosus, Wide mouth, Smooth ... OMIM:617260
Richieri-Costa/Guion-Almeida Syndrome
Mandibular prognathia, Iris coloboma, Cleft upper lip, Cleft palate, Spina bifida occulta, Microc... OMIM:268850
Melnick-Needles Syndrome
Delayed eruption of teeth, Tooth malposition, Frontal bossing, Craniofacial hyperostosis, Omphalo... ORPHA:2484
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypoplasia of the brainstem, Oligodontia, Cryptorchidism, Narrow mouth, Downturned corners of mou... OMIM:616817
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Patent ductus arteriosus,... ORPHA:1330
Pai Syndrome
Aplasia/Hypoplasia of the corpus callosum, Iris coloboma, Cleft palate, Abnormal oral frenulum mo... ORPHA:1993
Semilobar Holoprosencephaly
Central hypothyroidism, Solitary median maxillary central incisor, Sensorineural hearing impairme... ORPHA:220386
Alobar Holoprosencephaly
Central hypothyroidism, Solitary median maxillary central incisor, Sensorineural hearing impairme... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central hypothyroidism, Solitary median maxillary central incisor, Sensorineural hearing impairme... ORPHA:93926
Lobar Holoprosencephaly
Central hypothyroidism, Solitary median maxillary central incisor, Sensorineural hearing impairme... ORPHA:93924
Distal Trisomy 5Q
Long philtrum, Thin vermilion border, Carious teeth, Cryptorchidism, Narrow mouth, Craniosynostos... ORPHA:96097
Auriculocondylar Syndrome 1
Narrow mouth, Dental crowding, Overfolding of the superior helices, Mandibular condyle aplasia, P... OMIM:602483
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Mental Retardation, And Ear Anomalies Syndrome
Overfolded helix, Camptodactyly, Duplicated collecting system, Peripheral pulmonary artery stenos... OMIM:280000
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Lymphocytic interstitial pneumonia, Respiratory distress OMIM:245590
Congenital Varicella Syndrome
Cataract, Microcephaly, Microphthalmia, Cerebral cortical atrophy ORPHA:291
Pallister-Hall Syndrome
Cryptorchidism, Hydroureter, Atresia of the external auditory canal, Natal tooth, Patent ductus a... OMIM:146510
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Pulmonary hemorrhage, Restrictive ventilatory defect, Dyspnea, Cough, Decreased DLCO, Abnormal pu... OMIM:616414
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Respiratory insufficiency, Laryngomalacia, Neonatal death, Pulmonary hypoplasia OMIM:245650
Fontaine Progeroid Syndrome
Cryptorchidism, Oligodontia, Craniosynostosis, Narrow mouth, Mandibular prognathia, Patent ductus... OMIM:612289
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Glass Syndrome
Oligodontia, Narrow mouth, Bulbous nose, Dental crowding, Midface retrusion, Frontal bossing, Cam... OMIM:612313
Cardiomyo