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

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
Cerebral atrophy, Microcephaly, Cortical dysplasia, Hypoplasia of the corpus callosum, Absent sep... ORPHA:88616
Intellectual Developmental Disorder, 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
Genitopalatocardiac Syndrome
Renal cyst, Cleft upper lip, Low-set ears, Micrognathia, Double outlet right ventricle, Right aor... OMIM:231060
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland aplasia, Absent lacrimal punctum, Lacrimal gland hypoplasia OMIM:180920
Bronchopulmonary Dysplasia
Emphysema, Abnormal respiratory system physiology, Respiratory failure requiring assisted ventila... ORPHA:70589
Cholesterol Pneumonia
Cyanosis, Pneumonia, Tachypnea, Cough, Death in infancy OMIM:215030
22Q11.2 Duplication Syndrome
Tetralogy of Fallot, Depressed nasal ridge, Hydronephrosis, Micrognathia, Midface retrusion, Micr... ORPHA:1727
Mucus Inspissation Of Respiratory Tract
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Chronic pulmonary obstruction, Chr... OMIM:253240
Asbestos Intoxication
Hypoxemia, Late inspiratory crackles, Diffuse reticular or finely nodular infiltrations, Wheezing... ORPHA:2302
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Respiratory Distress Syndrome In Premature Infants
Tachypnea, Dyspnea, Atelectasis, Respiratory distress, Neonatal respiratory distress, Pulmonary e... OMIM:267450
Ciliary Dyskinesia, Primary, 21
Recurrent pneumonia, Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Bronchiectasi... OMIM:615294
Pulmonary Blastoma
Pulmonary infiltrates, Recurrent pneumonia, Cough, Dyspnea, Pleuropulmonary blastoma ORPHA:64741
Heart And Brain Malformation Syndrome
Prominent occiput, Global brain atrophy, Aplasia/Hypoplasia of the corpus callosum, Everted lower... OMIM:616920
Ciliary Dyskinesia, Primary, 29
Decreased nasal nitric oxide, Ciliary dyskinesia, Atelectasis, Recurrent respiratory infections, ... OMIM:615872
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Familial Nasal Acilia
Recurrent upper respiratory tract infections, Abnormal respiratory motile cilium morphology, Chro... ORPHA:922
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Tachypnea, Death in infancy, Nodular pattern on pulmonary HRCT, Crazy paving pattern, ... OMIM:610921
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Bronchiectasis, Atelectasis, Recurrent respiratory infections, Abnormal mucociliary clearance, Re... OMIM:619466
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Unilateral renal agenesis, Underdeveloped nasal alae, Hydranencephaly, Microcephaly, Ventricular ... OMIM:601355
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Absent bronchoalveolar dimeric surfactant-protein B, Ground-glass opacification, Intraa... OMIM:265120
Microphthalmia, Syndromic 9
Renal malrotation, Cryptorchidism, Hydronephrosis, Micrognathia, Inguinal hernia, Single ventricl... OMIM:601186
Pulmonary Nodular Lymphoid Hyperplasia
Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough, Dyspnea ORPHA:60026
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis, Recurrent upper respiratory tract infections, Type II pneumocyte hypertrophy, Tachypnea... OMIM:263000
Glaucoma-Sleep Apnea Syndrome
Respiratory insufficiency, Sleep apnea ORPHA:2085
Cerebrooculonasal Syndrome
Cleft palate, Encephalocele, Short nose, Cerebellar vermis hypoplasia, High palate, Anophthalmia,... OMIM:605627
14Q24.1Q24.3 Microdeletion Syndrome
Ectopic kidney, Long philtrum, Atrial septal defect, Cryptorchidism, Wide nasal bridge, Midface r... ORPHA:401935
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Renal agenesis, Underdeveloped nasal alae, Renal hypoplasia/aplasia, Micrognathia, High, narrow p... ORPHA:2516
Emanuel Syndrome
Long philtrum, Cryptorchidism, Micrognathia, Microcephaly, Inguinal hernia, Ventricular septal de... OMIM:609029
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory insufficiency, Respiratory failure OMIM:208081
Diabetic Embryopathy
Cryptorchidism, Hydronephrosis, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Microcep... ORPHA:1926
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Patent ductus arteriosus, Coarctation of aorta, Microcephaly, F... OMIM:612474
Ciliary Dyskinesia, Primary, 33
Recurrent pneumonia, Chronic rhinitis, Cough, Recurrent bronchitis, Bronchiectasis, Ciliary dyski... OMIM:616726
Ciliary Dyskinesia, Primary, 20
Recurrent pneumonia, Respiratory insufficiency due to defective ciliary clearance, Cough, Rhinorr... OMIM:615067
Acute Interstitial Pneumonia
Cyanosis, Nonproductive cough, Reticulonodular pattern on pulmonary HRCT, Pulmonary infiltrates, ... ORPHA:79126
Recurrent Respiratory Papillomatosis
Nonproductive cough, Recurrent pneumonia, Recurrent upper respiratory tract infections, Tracheoma... ORPHA:60032
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Tetralogy of Fallot, Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callo... ORPHA:1908
Osteopoikilosis And Dacryocystitis
Dacryocystitis OMIM:166705
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Oral cleft, Bilateral microphthalmos, Holop... OMIM:611638
Mitochondrial Complex I Deficiency, Nuclear Type 30
Neonatal death, Respiratory failure OMIM:301021
Developmental And Epileptic Encephalopathy 71
Respiratory insufficiency, Respiratory failure OMIM:618328
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Hypoxemia, Tachypnea, Respiratory failure, Respiratory tract infection, Atel... ORPHA:70587
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Hydrocephalus, Hypoplasia of the corpus callosum, Skeletal muscle atrophy, Atrial septal defect, ... OMIM:603387
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Johnson Neuroectodermal Syndrome
Hypogonadotropic hypogonadism, Anosmia, Patent ductus arteriosus, Micropenis, Choanal stenosis, C... OMIM:147770
14Q11.2 Microdeletion Syndrome
Narrow mouth, High palate, Long philtrum, Patent ductus arteriosus, Everted lower lip vermilion, ... ORPHA:261120
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Septooptic Dysplasia
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Diabetes insipidus, Optic nerve hypop... OMIM:182230
Chromosome 13Q33-Q34 Deletion Syndrome
Small thenar eminence, Cryptorchidism, Tented upper lip vermilion, Micrognathia, Microcephaly, Da... OMIM:619148
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tetralogy of Fallot, Abnormality of lower lip, Cryptorchidism, Tooth agenesis, Congenital diaphra... ORPHA:1166
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections, With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal aortic arch morphology, Maternal diabetes, Patent d... ORPHA:860
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Short philtrum, Agenesis of corpus callosum, Low-set ears, Wide nasal bridge, Micrognathia, Clove... ORPHA:93267
Holoprosencephaly 9
Abnormal cortical gyration, Hypoplasia of the premaxilla, Panhypopituitarism, Cryptorchidism, Opt... OMIM:610829
Idiopathic Chronic Eosinophilic Pneumonia
Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Parenchymal co... ORPHA:2902
Microphthalmia, Syndromic 12
Broad nasal tip, Anophthalmia, Cryptorchidism, Wide nasal bridge, Congenital diaphragmatic hernia... OMIM:615524
Tracheopathia Osteoplastica
Recurrent pneumonia, Cough, Wheezing, Dyspnea OMIM:189961
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Tachypnea, Spontaneous pneumothorax, Cyanosis, Recurrent pneumonia, Interstitial pneum... OMIM:610913
Meconium Aspiration Syndrome
Hypoxemia, Atelectasis, Pulmonary arterial hypertension, Neonatal asphyxia, Pneumothorax, Respira... ORPHA:70588
Double Outlet Right Ventricle
Narrow mouth, Tetralogy of Fallot, Abnormality of cartilage of external ear, Heterotaxy, Coarctat... ORPHA:3426
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Hydronephrosis, Double outlet right ventricle, Micrognathia, Ventricular septal d... OMIM:179613
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Overriding aorta, Broad nasal tip, Patent ductus arteriosus, Atrial septal defect, Omphalocele, V... OMIM:601927
Temtamy Syndrome
Chorioretinal coloboma, Abnormal palate morphology, Aplasia/Hypoplasia of the corpus callosum, Th... ORPHA:1777
Trisomy 1Q
Narrow mouth, Anophthalmia, Agenesis of corpus callosum, Patent ductus arteriosus, Low-set ears, ... ORPHA:261344
Pulmonary Alveolar Proteinosis, Acquired
Cyanosis, Restrictive ventilatory defect, Pneumonia, Hypoxemia, Lung abscess, Intraalveolar phosp... OMIM:610910
Chromosome 22Q11.2 Deletion Syndrome, Distal
Underdeveloped nasal alae, Malar flattening, Smooth philtrum, Truncus arteriosus, Thin upper lip ... OMIM:611867
Agenesis Of The Corpus Callosum And Congenital Lymphedema
High palate, Dolichocephaly, Patent ductus arteriosus, Low-set ears, Basal ganglia cysts, Agenesi... OMIM:613623
Isolated Congenital Alacrima
Lacrimal punctal atresia, Ptosis, Distichiasis, Lacrimal gland hypoplasia, Conjunctivitis ORPHA:91416
Robinow Syndrome, Autosomal Recessive 2
Broad nasal tip, Absent uvula, Long philtrum, Low-set ears, Ventral hernia, Wide nasal bridge, Mi... OMIM:618529
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Renal cyst, Renal hypoplasia, Micrognathia, Ventricular septal defect, Truncus arteriosus OMIM:228940
Diprosopus
Non-midline cleft lip, Abnormality of the nose, Anencephaly, External ear malformation, Cleft pal... ORPHA:1681
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Nonproductive cough, Ground-glass opacification, Pneumonia, Hypoxemia, Airway obstruction, Reduce... ORPHA:1303
Velocardiofacial Syndrome
Pierre-Robin sequence, Tetralogy of Fallot, Underdeveloped nasal alae, Bulbous nose, Cryptorchidi... OMIM:192430
Rowley-Rosenberg Syndrome
Pulmonary arterial hypertension, Recurrent pneumonia, Reduced subcutaneous adipose tissue, Atelec... OMIM:268500
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Emphysema, Nonproductive cough, Hypersensitivity pneumonitis, Restrictive ventilatory defect, Red... ORPHA:79127
Heterotaxy, Visceral, 7, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Abnormal tricuspid valve mo... OMIM:616749
Congenital Disorder Of Glycosylation, Type Iig
Progressive microcephaly, Cryptorchidism, Hydronephrosis, Micrognathia, Anemia, Thin upper lip ve... OMIM:611209
Structural Heart Defects And Renal Anomalies Syndrome
Tetralogy of Fallot, Renal cyst, Tricuspid atresia, Low-set ears, Atrial septal defect, Partial a... OMIM:617478
Trisomy 13
Long philtrum, Hernia, Cryptorchidism, Hydronephrosis, High, narrow palate, Ventricular septal de... ORPHA:3378
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Pulmonary infiltrates, Elevated bronchoalveolar lavage fluid neutrophil proportion, Restrictive v... OMIM:610978
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Gastroschisis, Non-midline cleft lip, Anencephaly, Hypoplastic left heart, Spina bifida, Ventricu... ORPHA:2476
Meckel Syndrome, Type 4
Hydrocephalus, Renal cyst, Atrial septal defect, Bile duct proliferation, Anencephaly, Microphtha... OMIM:611134
Chromosome 9P Deletion Syndrome
Long philtrum, Micrognathia, High, narrow palate, Inguinal hernia, Ventricular septal defect, Thi... OMIM:158170
Chronic Pneumonitis Of Infancy
Cyanosis, Ground-glass opacification, Hypoxemia, Tachypnea, Reduced forced vital capacity, Cough,... ORPHA:91359
Pentalogy Of Cantrell
Renal agenesis, Tetralogy of Fallot, Absent gallbladder, Abnormal pericardium morphology, Non-mid... ORPHA:1335
Microcephaly-Capillary Malformation Syndrome
Cerebral atrophy, Hypoplasia of the corpus callosum, Patent foramen ovale, Low-set ears, Progress... OMIM:614261
Arthrogryposis, Distal, Type 2E
Narrow mouth, Distal arthrogryposis, Joint contractures involving the joints of the feet, Trismus... OMIM:121070
Thymic Aplasia With Fetal Death
Renal agenesis, Abnormality of the endocrine system, Ureteral agenesis, Truncus arteriosus OMIM:274210
Cerebrooculofacioskeletal Syndrome 1
Elbow flexion contracture, Agenesis of corpus callosum, Long philtrum, Cataract, Osteoporosis, Mi... OMIM:214150
Craniotelencephalic Dysplasia
Craniosynostosis, Septo-optic dysplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Fron... ORPHA:1528
Holoprosencephaly 3
Single naris, Central diabetes insipidus, Bifid uvula, Solitary median maxillary central incisor,... OMIM:142945
Weiss-Kruszka Syndrome
Horizontal crus of helix, Hypoplasia of the corpus callosum, Cupped ear, Left ventricular hypertr... OMIM:618619
Dextrocardia With Unusual Facies And Microphthalmia
Anophthalmia, Dextrocardia, Micrognathia, Microphthalmia, Macrotia, Cleft palate, Prominent nose OMIM:221950
Fryns Syndrome
Long philtrum, Cryptorchidism, Hydronephrosis, Tented upper lip vermilion, Micrognathia, Multicys... ORPHA:2059
8P23.1 Duplication Syndrome
Adrenal insufficiency, Tetralogy of Fallot, Long philtrum, Hydronephrosis, Pulmonic stenosis, Ven... ORPHA:251076
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Abnormality of the anterior commissure, Fusion of the left and right thalami, Absent hippocampal ... OMIM:617542
Perlman Syndrome
Nephrogenic rest, Hypoplasia of the abdominal wall musculature, Renal hamartoma, Low-set ears, Ag... OMIM:267000
Hydrolethalus
Anophthalmia, Bifid uvula, Agenesis of corpus callosum, Low-set ears, Cryptorchidism, Anencephaly... ORPHA:2189
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow nasal ridge, Renal cyst, Bulbous nose, Low-set ears, Cerebellar hypoplasia, Choanal stenos... OMIM:236500
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Respiratory insufficiency, Death in infancy, Respiratory failure, Central apnea OMIM:611722
Emanuel Syndrome
Unilateral renal agenesis, Bifid uvula, Long philtrum, Cryptorchidism, Micrognathia, Microcephaly... ORPHA:96170
Heterotaxy, Visceral, 4, Autosomal
Complete atrioventricular canal defect, Total anomalous pulmonary venous return, Ectopia of the s... OMIM:613751
Congenital Hydrocephalus
Abnormal cortical gyration, Colpocephaly, Small cerebral cortex, Lissencephaly, Hydrocephalus, Ma... ORPHA:2185
Meckel Syndrome, Type 7
Hepatosplenomegaly, Multiple glomerular cysts, Patent ductus arteriosus, Pancreatic cysts, Atrial... OMIM:267010
Stevenson-Carey Syndrome
Narrow mouth, Pierre-Robin sequence, Underdeveloped nasal alae, Joint contracture of the hand, At... OMIM:611961
Cryptogenic Organizing Pneumonia
Cyanosis, Nonproductive cough, Restrictive ventilatory defect, Ground-glass opacification, Hypoxe... ORPHA:1302
Mosaic Trisomy 1
Renal cortical cysts, Cerebellar hypoplasia, Ventricular septal defect, Dilation of lateral ventr... ORPHA:1692
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Abnormal palate morphology, Abnormal tricuspid valve morphology, Depressed nasal ri... ORPHA:2412
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Premature ovarian insufficiency, Abnormal lacrimal duct morphology, Lacrimal gland hypoplasia, Po... ORPHA:572333
Laryngotracheal Angioma
Cyanosis, Cough, Stridor, Respiratory distress, Apnea, Intercostal retractions, Wheezing ORPHA:137935
Idiopathic Acute Eosinophilic Pneumonia
Pulmonary infiltrates, Restrictive ventilatory defect, Abnormal pleura morphology, Abnormal patte... ORPHA:724
Spinal Muscular Atrophy, Type I
Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:253300
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Cryptorchidism, Cerebellar hypoplasia, Dextrocardia, Microcephaly, Ventricular... OMIM:264480
Triploidy
Narrow mouth, Non-midline cleft lip, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, A... ORPHA:3376
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Intraalveolar phospholipid accumulation, Dyspnea, Interlobular septal... OMIM:614370
Ciliary Dyskinesia, Primary, 37
Hypothyroidism, Chronic rhinitis, Dextrocardia, Situs inversus totalis, Right aortic arch, Goiter... OMIM:617577
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Renal cyst, Agenesis of corpus callosum, Micropenis, Hydronephrosis, Cerebellar hypoplasia, Muscu... OMIM:615287
Craniofacioskeletal Syndrome
Short philtrum, Absent gallbladder, Hypoplastic frontal sinuses, Patent ductus arteriosus, Atrial... OMIM:300712
Burn-Mckeown Syndrome
Narrow mouth, Short philtrum, Bifid uvula, Cleft upper lip, Underdeveloped nasal alae, Bilateral ... OMIM:608572
Tracheobronchopathia Osteochondroplastica
Recurrent pneumonia, Pneumonia, Atelectasis, Recurrent respiratory infections, Productive cough, ... ORPHA:3348
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Holoprosencephaly 2
Bifid uvula, Solitary median maxillary central incisor, Diabetes insipidus, Agenesis of corpus ca... OMIM:157170
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Interstitial Lung Disease 1
Elevated bronchoalveolar lavage fluid neutrophil proportion, Nonspecific interstitial pneumonia, ... OMIM:619611
Isolated Congenital Hypoglossia/Aglossia
Aspiration pneumonia, Upper airway obstruction, Respiratory distress, Dyspnea ORPHA:141152
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Narrow mouth, Agenesis of corpus callosum, Low-set ears, Bulbous nose, Cryptorchidism, Parietal c... OMIM:618766
Proboscis Lateralis
Unilateral renal agenesis, Abnormal corpus callosum morphology, Long philtrum, Optic nerve hypopl... ORPHA:141099
Gillessen-Kaesbach-Nishimura Syndrome
Flexion contracture, Underdeveloped nasal alae, Low-set ears, Convex nasal ridge, Congenital diap... OMIM:263210
Mmep Syndrome
Cryptorchidism, Microphthalmia, Microcephaly, Mandibular prognathia, Oral cleft, Median cleft lip ORPHA:3434
Sonoda Syndrome
Narrow mouth, Depressed nasal bridge, Ventricular septal defect OMIM:270460
Familial Median Cleft Of The Upper And Lower Lips
Cleft upper lip, Fusion of gums, Abnormal mandible morphology, Irregular dentition, Diastema, Abn... ORPHA:401942
Microphthalmia With Brain And Digit Anomalies
Chorioretinal coloboma, High palate, Anophthalmia, Abnormality of the hypothalamus-pituitary axis... ORPHA:139471
Carpenter Syndrome 1
Cryptorchidism, Hydronephrosis, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Ventricu... OMIM:201000
Fetal Encasement Syndrome
Tetralogy of Fallot, Increased urinary 8-oxo-7,8-dihydroguanosine level, Horseshoe kidney, Congen... OMIM:613630
Anencephaly 2
Cleft of alveolar ridge of maxilla, Anophthalmia, Median cleft palate, Anencephaly, Bifid nose, M... OMIM:619452
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Median cleft palate, Agenesis of corpus callosum, Cranium bifidum oc... OMIM:136760
1Q21.1 Microdeletion Syndrome
High palate, Agenesis of corpus callosum, Bulbous nose, Patent ductus arteriosus, Cryptorchidism,... ORPHA:250989
Meckel Syndrome, Type 8
Anophthalmia, Encephalocele, Cleft upper lip, Depressed nasal ridge, Low-set ears, Microphthalmia... OMIM:613885
Schisis Association
Renal agenesis, Anencephaly, Unilateral cleft lip, Congenital diaphragmatic hernia, Microcephaly,... ORPHA:63862
Congenital Heart Defects, Multiple Types, 6
Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomalous pulmonary venous ret... OMIM:613854
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Otodental Syndrome
Abnormality of the maxilla, Delayed eruption of teeth, Retinal coloboma, Pulp calcification, Long... ORPHA:2791
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Low-set ears, Abnormality of the diencephalon, Aplasia/Hypoplasia of... ORPHA:2570
Renal-Hepatic-Pancreatic Dysplasia 2
Enlarged kidney, Cystic renal dysplasia, Hypertrophic cardiomyopathy, Hepatomegaly, Pulmonic sten... OMIM:615415
Oculocerebrocutaneous Syndrome
Anophthalmia, Agenesis of corpus callosum, Cryptorchidism, Microphthalmia, Orbital encephalocele,... OMIM:164180
Fetal Valproate Spectrum Disorder
Narrow mouth, Long philtrum, Depressed nasal ridge, Omphalocele, Thin vermilion border, Downturne... ORPHA:1906
Miller-Dieker Syndrome
Omphalocele, Lissencephaly, Cerebral cortical atrophy, Abnormality of upper lip, Nephropathy, Hyp... ORPHA:531
Ritscher-Schinzel Syndrome 1
Prominent occiput, Tetralogy of Fallot, Low-set ears, Atrial septal defect, Hydronephrosis, Doubl... OMIM:220210
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Hydronephrosis, Narrow nose, Micrognathia, Microcephaly, Inguinal hernia, Thin up... OMIM:618454
Trisomy 18
Prominent occiput, Hernia, Cryptorchidism, Hydronephrosis, Aplasia/Hypoplasia of the corpus callo... ORPHA:3380
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Ane Syndrome
Hypogonadotropic hypogonadism, Multiple joint contractures, Anterior pituitary hypoplasia, Abnorm... ORPHA:157954
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Microcephaly, Right aortic arch with mirror image branching OMIM:107500
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Diastasis recti, Dysplastic tricuspid valve, Hydronephrosis, Micrognathia, Hypoplastic left heart... OMIM:265380
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Apnea, Respiratory failure, Respiratory insufficiency OMIM:613869
Microphthalmia, Syndromic 8
Cleft upper lip, Cryptorchidism, Microcornea, Microphthalmia, Microcephaly, Widely-spaced maxilla... OMIM:601349
Microphthalmia, Isolated, With Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microphthalmia, Microcoria, Iris coloboma OMIM:616428
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, High palate, Microphthalmia, Microcephaly, Brachycephaly, Retrognathia, Hypogonadism ORPHA:2528
Acitretin/Etretinate Embryopathy
High palate, Hypoplastic nasal septum, Cupped ear, Median cleft palate, Conotruncal defect, Micro... ORPHA:40366
Cataract 9, Multiple Types
Developmental cataract, Microcornea, Cataract, Microphthalmia, Progressive cataract, Iris coloboma OMIM:604219
Heterotaxy, Visceral, 12, Autosomal
Single coronary artery origin, Dextrocardia, Double outlet right ventricle, Hypoplastic left hear... OMIM:619702
Progeroid Facial Appearance With Hand Anomalies
Narrow mouth, Short philtrum, Tetralogy of Fallot, Prominent superficial veins, Conductive hearin... OMIM:602249
Baraitser-Winter Syndrome 1
Chorioretinal coloboma, Cleft upper lip, Agenesis of corpus callosum, Long philtrum, Cryptorchidi... OMIM:243310
Oculoauriculofrontonasal Syndrome
Narrow mouth, Underdeveloped nasal alae, Conductive hearing impairment, Microtia, Pericallosal li... ORPHA:398156
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Renal tubular acidosis, Nephrocalcinosis, Low-set ears, Atrial septal defect, Nephrogenic diabete... OMIM:208085
Distal Monosomy 13Q
Primary adrenal insufficiency, Aplasia/Hypoplasia of the corpus callosum, Anencephaly, Aplasia/Hy... ORPHA:1590
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Thoracoabdominal Syndrome
Renal agenesis, Hydrocephalus, Cleft upper lip, Ventral hernia, Ectopia cordis, Patent ductus art... OMIM:313850
Meckel Syndrome, Type 10
Renal cyst, Micropenis, Occipital encephalocele, Anencephaly, Frontal bossing, Cleft palate, Hypo... OMIM:614175
Heterotaxy, Visceral, 6, Autosomal
Total anomalous pulmonary venous return, Unbalanced atrioventricular canal defect, Dextrocardia, ... OMIM:614779
Whistling Face Syndrome, Recessive Form
Narrow mouth, High palate, Elbow flexion contracture, Underdeveloped nasal alae, Trismus, Long ph... OMIM:277720
Truncus Arteriosus
Pulmonary artery hypoplasia, Single coronary artery origin, Abnormal superior vena cava morpholog... ORPHA:3384
Auriculocondylar Syndrome 2
Narrow mouth, Cleft at the superior portion of the pinna, Low-set ears, Overfolding of the superi... OMIM:614669
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Long philtrum, Patent ductus arteriosus, Atrial septal defect, Cryptorchidism, Coar... OMIM:615502
Ring Chromosome 8 Syndrome
Abnormality of the ureter, Round ear, Abnormal palate morphology, Hydronephrosis, Frontal bossing... ORPHA:1450
Alacrima, Congenital, Autosomal Dominant
Lacrimal punctal atresia, Lacrimal gland hypoplasia OMIM:103420
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Overriding aorta, Narrow mouth, Abnormal aortic arch morphology, Carious teeth, Convex nasal ridg... ORPHA:1110
Meckel Syndrome, Type 1
Accessory spleen, Cryptorchidism, Bile duct proliferation, Cerebellar hypoplasia, Micrognathia, P... OMIM:249000
Trisomy 17P
Hydronephrosis, Micrognathia, Macroglossia, Polycystic kidney dysplasia, Hypoplastic left heart, ... ORPHA:261290
17P13.3 Microduplication Syndrome
Narrow mouth, High palate, Low-set ears, Hypoplasia of penis, Inguinal hernia, Frontal bossing, H... ORPHA:217385
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Microphthalmia, Microcephaly, Polymicrogyria, Cortical dysplasia OMIM:615771
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Chronic pulmonary obstruction, Panacinar emphysema, Wheezing OMIM:613490
C Syndrome
Accessory oral frenulum, High palate, Renal cortical cysts, Patent ductus arteriosus, Low-set ear... OMIM:211750
Vacterl/Vater Association
Renal agenesis, Ectopic kidney, Non-midline cleft lip, Cryptorchidism, Hydronephrosis, Anencephal... ORPHA:887
Cofs Syndrome
Cerebral calcification, Joint stiffness, Cataract, Everted lower lip vermilion, Micrognathia, Mic... ORPHA:1466
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Renpenning Syndrome
Narrow mouth, Short philtrum, Broad columella, Skeletal muscle atrophy, Sensorineural hearing imp... ORPHA:3242
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis, Synophrys, Epicanthus, Premature ova... ORPHA:126
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microphthalmia, Microcephaly, Arthrogryposis multiplex congenita, Cleft palate OMIM:616570
Solitary Median Maxillary Central Incisor
Anophthalmia, Cleft upper lip, Solitary median maxillary central incisor, Anterior hypopituitaris... OMIM:147250
Hereditary Pulmonary Alveolar Proteinosis
Respiratory failure requiring assisted ventilation, Restrictive ventilatory defect, Hypoxemia, Cr... ORPHA:264675
Kagami-Ogata Syndrome
Flexion contracture, Long philtrum, Patent ductus arteriosus, Diastasis recti, Atrial septal defe... OMIM:608149
Stankiewicz-Isidor Syndrome
Pineal cyst, Patent ductus arteriosus, Ureteral duplication, Micropenis, Hearing impairment, Low-... OMIM:617516
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Hypogonadotropic hypogonadism, Anophthalmia, Agenesis of corpus callosum,... OMIM:206900
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Underdeveloped nasal alae, Overhanging nasal tip, Hydronephrosis, Cryptorchidism, Cerebellar hypo... ORPHA:163979
Laryngotracheoesophageal Cleft
Cyanosis, Aspiration, Cough, Dyspnea, Recurrent respiratory infections, Stridor, Neonatal respira... ORPHA:2004
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Hypogonadotropic hypogonadism, Osteopenia, Agenesis of corpus callosum, Cleft upper lip, Cryptorc... OMIM:147950
Humero-Radial Synostosis
Chorioretinal coloboma, Limitation of joint mobility, Aplasia/Hypoplasia affecting the eye, Micro... ORPHA:3265
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Optic nerve hypoplasia, Micrognathia, Lissencephaly, Type II lissencephaly, Small basal ganglia, ... ORPHA:300570
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Narrow mouth, Abnormal localization of kidney, Depressed nasal bridge, Ventricular septal defect,... ORPHA:83473
Severe Acute Respiratory Syndrome
Respiratory failure requiring assisted ventilation, Hypoxemia, Cough, Dyspnea, Chronic lung disea... ORPHA:140896
Isolated Exencephaly
Agenesis of corpus callosum, Anterior pituitary hypoplasia, Hypoplasia of the frontal bone, Mater... ORPHA:563612
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Renal tubular acidosis, Nephrocalcinosis, Low-set ears, Nephrogenic diabetes insipidus, Microceph... OMIM:613404
Autism Spectrum Disorder Due To Auts2 Deficiency
Narrow mouth, Short philtrum, Low-set ears, Joint contracture of the hand, Atrial septal defect, ... ORPHA:352490
Intellectual Developmental Disorder, Autosomal Dominant 26
Narrow mouth, Short philtrum, Anteverted nares, Low-set ears, Wide nasal bridge, Micrognathia, Mi... OMIM:615834
Idiopathic Pulmonary Fibrosis
Ground-glass opacification, Reticular pattern on pulmonary HRCT, Honeycomb lung, Crackles, Cough,... ORPHA:2032
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft palate, Agenesis of corpus callosum, Anterior pituitary hypoplasia, H... ORPHA:1827
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Double outlet right ventricle, Coarct... OMIM:217095
Chromosome 14Q11-Q22 Deletion Syndrome
Narrow mouth, Plagiocephaly, High palate, Patent foramen ovale, Patent ductus arteriosus, Low-set... OMIM:613457
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Opitz Gbbb Syndrome
Abnormal corpus callosum morphology, Long philtrum, Cryptorchidism, Hydronephrosis, Micrognathia,... ORPHA:2745
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Posterior embryotoxon, Cataract, Corneal opacity, Microphthalmia, Bilater... ORPHA:1473
Pleural Mesothelioma
Abnormal respiratory system physiology, Abnormal pleura morphology, Pleural effusion, Cough, Dysp... ORPHA:50251
Surfactant Metabolism Dysfunction, Pulmonary, 4
Restrictive ventilatory defect, Ground-glass opacification, Reduced forced expiratory volume in o... OMIM:300770
Walker-Warburg Syndrome
Abnormal cortical gyration, Anophthalmia, Bifid uvula, Chorioretinal dysplasia, Agenesis of corpu... ORPHA:899
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmonary HRCT, ... OMIM:234810
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Long philtrum, Overhanging nasal tip, Hydronephrosis, Cryptorchidism, High, narrow palate, Thin u... OMIM:618494
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Microcephaly, Chorioretinal dysplasia OMIM:616335
Tetraamelia-Multiple Malformations Syndrome
Narrow mouth, Septo-optic dysplasia, Agenesis of corpus callosum, Cryptorchidism, Microcornea, Ca... ORPHA:3301
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Narrow mouth, Cerebral atrophy, High palate, Patent foramen ovale, Facial hypotonia, Long philtru... OMIM:615539
Warburg Micro Syndrome 1
Narrow mouth, Cerebral atrophy, Developmental cataract, Agenesis of corpus callosum, Cryptorchidi... OMIM:600118
Paget Disease Of Bone 6
Nephrocalcinosis, Left ventricular hypertrophy, Coronary artery atherosclerosis OMIM:616833
Temtamy Syndrome
Chorioretinal coloboma, Agenesis of corpus callosum, Long philtrum, Ectopia lentis, Micrognathia,... OMIM:218340
Pulmonary Capillary Hemangiomatosis
Cyanosis, Pulmonary capillary hemangiomatosis, Centrilobular ground-glass opacification on pulmon... ORPHA:199241
Pneumocystosis
Nonproductive cough, Respiratory failure requiring assisted ventilation, Parenchymal consolidatio... ORPHA:723
Craniotelencephalic Dysplasia
Craniosynostosis, Agenesis of corpus callosum, Cerebellar hypoplasia, Optic nerve hypoplasia, Fro... OMIM:218670
Donnai-Barrow Syndrome
Broad nasal tip, Proteinuria, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defec... OMIM:222448
Lacrimal Duct Defect
Dacryocystocele, Lacrimal duct atresia, Conjunctivitis, Dacryocystitis OMIM:149700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Flexion contracture, Congenital muscular dystrophy, Micropenis, Cryptorchidism, Cerebellar hypopl... OMIM:613156
2p15-16.1 microdeletion syndrome
Microcephaly, Camptodactyly of finger, Hydronephrosis, Optic disc hypoplasia DECIPHER:70
Isolated Growth Hormone Deficiency, Type Iv
Decreased response to growth hormone stimulation test, Decreased serum insulin-like growth factor... OMIM:618157
Frontorhiny
Hypoplastic frontal sinuses, Diabetes insipidus, Basal encephalocele, Aplasia/Hypoplasia of the c... ORPHA:391474
Teebi Hypertelorism Syndrome 1
Long philtrum, Coronal craniosynostosis, Aortic root aneurysm, Atrial septal defect, Hydrocele te... OMIM:145420
Meier-Gorlin Syndrome 8
Narrow mouth, Low-set ears, Renal hypoplasia, Microtia, Micrognathia, Microcephaly, Bilateral cry... OMIM:617564
Congenital Heart Defects, Multiple Types, 7
Tetralogy of Fallot, Pulmonic stenosis, Right aortic arch, Pulmonary artery atresia, Double aorti... OMIM:618780
Distal Tetrasomy 15Q
Hernia, Hydronephrosis, Micrognathia, Polycystic kidney dysplasia, Dandy-Walker malformation, Ret... ORPHA:314588
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebral atrophy, Microcornea, Cataract, Micrognathia, Microphthalmia, Microcephaly, Simplified g... OMIM:616171
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosu... ORPHA:3157
Heterotaxy, Visceral, 1, X-Linked
Total anomalous pulmonary venous return, Cerebellar hypoplasia, Dextrocardia, Double outlet right... OMIM:306955
Alg2-Cdg
Hyperintensity of cerebral white matter on MRI, Cataract, Microcephaly, Abnormal basal ganglia MR... ORPHA:79326
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Optic nerve hypoplasia, Median cleft lip and palate, Decreased response to... ORPHA:95494
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Broad nasal tip, Abnormal spaced incisors, Anophthalmia, Short philtrum, Bulbous n... ORPHA:411986
Lethal Congenital Contracture Syndrome 10
Overriding aorta, High palate, Long philtrum, Micrognathia, Omphalocele, Ventricular septal defec... OMIM:617022
Microphthalmia, Syndromic 11
Cleft upper lip, Agenesis of corpus callosum, Agenesis of pineal gland, Microphthalmia, Cleft palate OMIM:614402
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Cleft upper lip, Anterior hypopituitarism, Camptodactyly, Cleft palat... OMIM:601016
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Gonadotropin deficiency, Anterior pituitary hypoplasia, Adrenocorticotropic hormone deficiency, P... ORPHA:231720
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
22Q11.2 Deletion Syndrome
Hypothyroidism, Small earlobe, Tricuspid atresia, Long philtrum, Cryptorchidism, Abnormal aortic ... ORPHA:567
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Prominent occiput, Hydronephrosis, Tented upper lip vermilion, Partial absence of cerebellar verm... ORPHA:280633
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Donnai-Barrow Syndrome
Proteinuria, Aplasia/Hypoplasia of the corpus callosum, Sensorineural hearing impairment, Congeni... ORPHA:2143
Tetraploidy
Biparietal narrowing, Short philtrum, Hypoplasia of the ear cartilage, Hydronephrosis, Aplasia/Hy... ORPHA:3305
Hypertelorism, Microtia, Facial Clefting Syndrome
Narrow mouth, Broad nasal tip, Small thenar eminence, Ectopic kidney, Cleft upper lip, Conductive... OMIM:239800
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Cryptorchidism, Cerebellar hypoplasia, Aplasia/Hypoplasia of the co... ORPHA:2166
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Renal cyst, Encephalocele, Patent ductus arteriosus, Cryptorchidism, Renal hypoplasia, Cerebellar... OMIM:616300
Laryngeal Abductor Paralysis
Respiratory insufficiency ORPHA:2808
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Hydronephrosis, Microcephaly, Anemia, Hypoplasia of the thymus, Lymphopenia, Clef... OMIM:612541
Microgastria-Limb Reduction Defects Association
Unilateral renal agenesis, Absent gallbladder, Anophthalmia, Cystic renal dysplasia, Horseshoe ki... OMIM:156810
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morphology, Anteverted nares, Hypospadi... ORPHA:1355
Holoprosencephaly 7
Semilobar holoprosencephaly, Fusion of the left and right thalami, Solitary median maxillary cent... OMIM:610828
Feingold Syndrome Type 1
Horseshoe kidney, Patent ductus arteriosus, Tricuspid atresia, Hydronephrosis, Tricuspid stenosis... ORPHA:391641
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Occipital encephalocele, Ocular anterior segment dysgenesis, Oral cleft, ... ORPHA:324416
Stromme Syndrome
Agenesis of corpus callosum, Sclerocornea, Microcornea, Cataract, Optic nerve hypoplasia, Peters ... OMIM:243605
Kallmann Syndrome-Heart Disease Syndrome
Renal agenesis, Dilated cardiomyopathy, Hypogonadotropic hypogonadism, Pulmonary artery hypoplasi... ORPHA:2326
Digeorge Syndrome
Unilateral renal agenesis, Hypothyroidism, Bifid uvula, Hydronephrosis, Micrognathia, Ovarian cys... OMIM:188400
Hamel Cerebro-Palato-Cardiac Syndrome
Narrow mouth, Cupped ear, Bulbous nose, Atrial septal defect, Wide nasal bridge, Micrognathia, Mi... ORPHA:93946
Cog7-Cdg
Narrow mouth, Hepatosplenomegaly, Progressive microcephaly, Abnormality of the kidney, Hepatomega... ORPHA:79333
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory failure, Reduced vital capacity, Respiratory ... ORPHA:266
Hydrolethalus Syndrome 1
Abnormal cortical gyration, Accessory spleen, Hydronephrosis, Micrognathia, Agenesis of the diaph... OMIM:236680
Charge Syndrome
Cryptorchidism, Hydronephrosis, Abnormal aortic valve morphology, Microcephaly, Dandy-Walker malf... ORPHA:138
Idiopathic Bronchiectasis
Emphysema, Abnormal respiratory system physiology, Reduced FEV1/FVC ratio, Crackles, Respiratory ... ORPHA:60033
Microcephaly, Corpus Callosum Dysgenesis, And Cleft Lip/Palate
Microcephaly, Cleft upper lip, Cleft palate, Hypoplasia of the corpus callosum OMIM:601420
Acrocardiofacial Syndrome
Tetralogy of Fallot, Cleft upper lip, Low-set ears, Atrial septal defect, Cryptorchidism, Hyperth... ORPHA:2008
Alazami-Yuan Syndrome
Narrow mouth, High palate, Long philtrum, Underdeveloped nasal alae, Cryptorchidism, Microcephaly... OMIM:617126
Hypomelanosis Of Ito
Cerebral atrophy, Cataract, Thick lower lip vermilion, Microcephaly, Irregularly spaced teeth, Ir... OMIM:300337
Miller-Dieker Lissencephaly Syndrome
Agyria, Cryptorchidism, Micrognathia, Microcephaly, Lissencephaly, Inguinal hernia, Thin upper li... OMIM:247200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agyria, Cerebellar hypoplasia, Hypoplasia of the pons, Muscular dystrophy, Microphthalmia, Dandy-... OMIM:613153
Meacham Syndrome
Accessory spleen, Dextrocardia, Hypoplastic left heart, Ventricular septal defect, Patent ductus ... OMIM:608978
Right Atrial Isomerism
Right atrial isomerism, Complete atrioventricular canal defect, Tetralogy of Fallot, Total anomal... OMIM:208530
Bresek Syndrome
Cryptorchidism, Optic nerve hypoplasia, Microphthalmia, Microcephaly, Cleft palate, Hydrocephalus... ORPHA:85284
Distal Trisomy 6P
Narrow mouth, Low-set ears, Hernia, Hydronephrosis, Renal hypoplasia, Aplasia/Hypoplasia affectin... ORPHA:1745
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Frontofacionasal Dysplasia
Non-midline cleft lip, Microcornea, Cataract, Microphthalmia, Limbal dermoid, Cleft palate, Hypop... ORPHA:1791
Holoprosencephaly
Diabetes insipidus, Proteinuria, Cryptorchidism, Panhypopituitarism, Aplasia/Hypoplasia of the co... ORPHA:2162
8Q12 Microduplication Syndrome
Narrow mouth, Long philtrum, Atrial septal defect, Sensorineural hearing impairment, Everted lowe... ORPHA:228399
Pontocerebellar Hypoplasia, Type 1C
Respiratory insufficiency, Respiratory failure OMIM:616081
Heart Defects, Congenital, And Other Congenital Anomalies
Glycosuria, Microcephaly, Inguinal hernia, Ventricular septal defect, Diabetes mellitus, Interrup... OMIM:600001
Cerebrooculonasal Syndrome
High palate, Anophthalmia, Solitary median maxillary central incisor, Long philtrum, Widely space... ORPHA:66625
Suleiman-El-Hattab Syndrome
Long philtrum, Cryptorchidism, Hydronephrosis, Microcephaly, Inguinal hernia, Ventricular septal ... OMIM:618950
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Cataract, Microphthalmia, Coloboma, Cleft palate OMIM:120433
Autosomal Recessive Centronuclear Myopathy
Narrow mouth, High palate, Bifid uvula, Left ventricular hypertrophy, Abnormal heart valve morpho... ORPHA:169186
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Narrow mouth, Abnormality of the ureter, Depressed nasal ridge, Splenomegaly, Hypoplasia of penis... ORPHA:1046
Adams-Oliver Syndrome 6
Renal hypoplasia, Ventricular septal defect, Calvarial skull defect, Truncus arteriosus OMIM:616589
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Meckel Syndrome
Aplasia/Hypoplasia of the tongue, Accessory spleen, Cryptorchidism, Aplasia/Hypoplasia of the cor... ORPHA:564
Interstitial Lung Disease 2
Elevated bronchoalveolar lavage fluid neutrophil proportion, Usual interstitial pneumonia, Cough,... OMIM:178500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Sclerocornea, Cryptorchidism, Microphthalmia, Hydrocep... ORPHA:77298
Otopalatodigital Syndrome Type 2
Cerebellar hypoplasia, Hydronephrosis, Micrognathia, Cleft palate, Encephalocele, Short nose, Nar... ORPHA:90652
6P22 Microdeletion Syndrome
Abnormal palate morphology, Low-set ears, Patent ductus arteriosus, Hernia, Hydronephrosis, Overf... ORPHA:251046
Robinow Syndrome, Autosomal Dominant 3
Long philtrum, Hypoplastic right heart, Cryptorchidism, Micrognathia, Ventricular septal defect, ... OMIM:616894
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Restrictive ventilatory defect, Hypoxemia, Intraalveolar phospholipid accumulation, Cra... ORPHA:747
Linear Verrucous Nevus Syndrome
Abnormal cornea morphology, Aplasia/Hypoplasia of the corpus callosum, Iris coloboma, Cataract, R... ORPHA:2611
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Coloboma, Iris coloboma OMIM:610023
Cardiomyopathy, Familial Restrictive, 1
Restrictive cardiomyopathy, Left ventricular hypertrophy, Left atrial enlargement OMIM:115210
Meckel Syndrome, Type 2
Renal cyst, Bile duct proliferation, Anencephaly, Microphthalmia, Dandy-Walker malformation, Meni... OMIM:603194
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Distal Trisomy 15Q
High palate, Long philtrum, Cryptorchidism, Micrognathia, Microcephaly, Omphalocele, Prominent na... ORPHA:1707
Acalvaria
Omphalocele, Spina bifida, Hydrocephalus, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum... ORPHA:945
Respiratory Underresponsiveness To Hypoxia And Hypercapnia
Respiratory insufficiency, Respiratory failure, Hypercapnia OMIM:267480
Isotretinoin-Like Syndrome
Abnormal aortic arch morphology, Patent ductus arteriosus, Conotruncal defect, Aplasia/Hypoplasia... ORPHA:2306
Baraitser-Winter Syndrome 2
Agenesis of corpus callosum, Long philtrum, Microphthalmia, Coloboma, Lissencephaly, Pachygyria, ... OMIM:614583
Kahrizi Syndrome
Cataract, Thick lower lip vermilion, Knee flexion contracture, Elbow flexion contracture, Iris co... OMIM:612713
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left ventricular hypertrophy, Cardiomyopathy, Left atrial enla... OMIM:611556
Myopathy, Congenital, With Tremor
Narrow mouth, High palate, Flexion contracture, EMG: myopathic abnormalities, Prominent nasolabia... OMIM:618524
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Long philtrum, Cryptorchidism, Exaggerated cupid's bow, Micrognathia, Narrow mouth, Patent ductus... OMIM:618659
Bronchogenic Cyst
Bronchogenic cyst, Pneumonia, Abnormal pleura morphology, Pulmonary cyst, Cough, Dyspnea, Atelect... ORPHA:2357
Gorlin Syndrome
Cerebral calcification, Hypogonadotropic hypogonadism, Cryptorchidism, Cataract, Carious teeth, V... ORPHA:377
Intellectual Disability-Cataracts-Kyphosis Syndrome
Cataract, Knee flexion contracture, Elbow flexion contracture, Iris coloboma, Thick vermilion border ORPHA:171860
Frontoocular Syndrome
Narrow mouth, High palate, Narrow philtrum, Coronal craniosynostosis, Low-set ears, Atrial septal... OMIM:605321
Laryngeal Web, Familial
Stridor, Recurrent upper respiratory tract infections, Respiratory distress OMIM:150360
Short-Rib Thoracic Dysplasia 12
Cystic renal dysplasia, Patent foramen ovale, Patent ductus arteriosus, Low-set ears, Renal hypop... OMIM:269860
Marden-Walker Syndrome
Long philtrum, Cryptorchidism, Cerebellar hypoplasia, Dextrocardia, Micrognathia, High, narrow pa... OMIM:248700
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Achilles tendon contracture, Abnormal macrophage morphology, Increased endomysial connective tiss... ORPHA:353
Pulmonary Hemosiderosis
Transient pulmonary infiltrates, Respiratory insufficiency, Recurrent intrapulmonary hemorrhage, ... OMIM:178550
Neural Tube Defects, Susceptibility To
Multiple lipomas, Myelomeningocele, Anencephaly, Lipoma, Hydrocephalus, Spina bifida occulta, Uri... OMIM:182940
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Abnormal palate morphology, Dolichocephaly, Carious teeth, Multicystic kidney dysplasia, Prominen... ORPHA:3270
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Microgastria-Limb Reduction Defect Syndrome
Renal agenesis, Plagiocephaly, Abnormal cortical gyration, Anophthalmia, Horseshoe kidney, Arrhin... ORPHA:2538
Osteogenesis Imperfecta, Type Xii
Progressive hearing impairment, Narrow mouth, Wormian bones, High palate, Delayed eruption of tee... OMIM:613849
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Microphthalmia, Chorioretinal coloboma, Cataract, Iris coloboma OMIM:212550
Alg9-Cdg
Ureteral hypoplasia, Bifid uvula, Progressive microcephaly, Underdeveloped nasal alae, Long philt... ORPHA:79328
Gombo Syndrome
Microphthalmia, Microcephaly, Delayed puberty OMIM:233270
Biemond Syndrome Ii
Abnormality of the endocrine system, Iris coloboma, Hydrocephalus OMIM:210350
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Respiratory failure, Cough, Dyspnea, Aspirati... ORPHA:90117
Left Ventricular Noncompaction 1
Left ventricular noncompaction, Patent ductus arteriosus, Left ventricular noncompaction cardiomy... OMIM:604169
Pituitary Hormone Deficiency, Combined, 3
Gonadotropin deficiency, Decreased response to growth hormone stimulation test, Anterior hypopitu... OMIM:221750
Pulmonary Non-Tuberculous Mycobacterial Infection
Crackles, Pleural effusion, Cough, Bronchiectasis, Dyspnea, Chronic pulmonary obstruction, Pneumo... ORPHA:411703
Acute Lung Injury
Pulmonary infiltrates, Pneumonia, Diffuse alveolar hemorrhage, Hypoxemia, Tachypnea, Respiratory ... ORPHA:178320
Xk Aprosencephaly Syndrome
Narrow mouth, Atrial septal defect, Microcephaly, Microphthalmia, Abnormality of the nares, Ventr... ORPHA:3469
Myopathy, Congenital, Progressive, With Scoliosis
High palate, Facial hypotonia, Depressed nasal ridge, Skeletal muscle atrophy, Low-set ears, Hydr... OMIM:618578
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Cleft upper lip, Low-set ears, Omphalocele, Bilateral cleft lip and palate, Ventricular septal de... OMIM:601357
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Hypoplasia of the corpus callosum, Abnormal palate morphology, Micrognathia, Microc... ORPHA:1495
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dysplastic corpus callosum, Left ventricular noncompaction, Cryptorchidism, Cerebellar hypoplasia... OMIM:300967
Cleft Larynx, Posterior
Cyanosis, Aspiration OMIM:215800
Cantu Syndrome
Congenital hypertrophy of left ventricle, Long philtrum, Patent ductus arteriosus, Thick lower li... OMIM:239850
Iniencephaly
Renal agenesis, Narrow mouth, Gastroschisis, Myelomeningocele, Low-set ears, Anencephaly, Congeni... ORPHA:63259
Distal 22Q11.2 Microdeletion Syndrome
Underdeveloped nasal alae, High, narrow palate, Microcephaly, Inguinal hernia, Recurrent urinary ... ORPHA:261330
Classic Multiminicore Myopathy
High palate, Right ventricular hypertrophy, Congenital muscular dystrophy, Muscle fiber atrophy, ... ORPHA:324604
Focal Dermal Hypoplasia
Diastasis recti, Open bite, Hernia, Hydronephrosis, Multicystic kidney dysplasia, Inguinal hernia... ORPHA:2092
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Endocardial... OMIM:601493
Treacher-Collins Syndrome
Open bite, Cryptorchidism, Micrognathia, Retrognathia, Hypoplasia of the zygomatic bone, Abnormal... ORPHA:861
14Q22Q23 Microdeletion Syndrome
Anophthalmia, Abnormality of the hypothalamus-pituitary axis, Agenesis of corpus callosum, Anteri... ORPHA:264200
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyria, Occipital cortical atrophy, O... ORPHA:177901
Dihydropyrimidine Dehydrogenase Deficiency
Cerebral atrophy, Agenesis of corpus callosum, Microphthalmia, Coloboma, Microcephaly OMIM:274270
Microphthalmia, Syndromic 5
Anophthalmia, Cryptorchidism, Microcornea, Cataract, Optic nerve hypoplasia, Joint laxity, Microp... OMIM:610125
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Terminal Osseous Dysplasia
Multiple joint contractures, Abnormal bone structure, Abnormal oral frenulum morphology, Abnormal... OMIM:300244
3C Syndrome
Prominent occiput, Abnormal mitral valve morphology, Hydronephrosis, Micrognathia, High, narrow p... ORPHA:7
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Recurrent upper respiratory tract infections, Anteverted nares, Dolichocephaly, Low-... OMIM:300209
Myopathy, Centronuclear, 5
Narrow mouth, Dilated cardiomyopathy, High palate, Micrognathia, Hip contracture, Retrognathia, F... OMIM:615959
Distal Monosomy 17Q
Narrow mouth, Patent ductus arteriosus, Abnormality of the philtrum, Microtia, Hepatomegaly, Apla... ORPHA:1597
Gonadal Dysgenesis, Dysmorphic Facies, Retinal Dystrophy, And Myopathy
Unilateral renal agenesis, Agenesis of corpus callosum, Underdeveloped nasal alae, Diastasis rect... OMIM:618419
Hypoglossia With Situs Inversus
Narrow mouth, High palate, Low-set ears, Hypodontia, Situs inversus totalis, Micrognathia, Microg... OMIM:612776
Multiple Mitochondrial Dysfunctions Syndrome 1
Pulmonary arterial hypertension, Respiratory insufficiency, Respiratory failure OMIM:605711
Oculofaciocardiodental Syndrome
Solitary median maxillary central incisor, Abnormal palate morphology, Delayed eruption of teeth,... ORPHA:2712
Cleft Palate-Lateral Synechia Syndrome
Narrow mouth, Everted lower lip vermilion, Micrognathia, Oral synechia, Cleft palate ORPHA:2016
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Narrow mouth, Intestinal lymphangiectasia, Microtia, Pulmonary lymphangiectasia, Depressed nasal ... OMIM:616006
Bardet-Biedl Syndrome 16
Recurrent respiratory infections, Bronchiolitis, Respiratory distress OMIM:615993
Hartsfield Syndrome
Craniosynostosis, Non-midline cleft lip, Aplasia/Hypoplasia of the corpus callosum, Lobar holopro... ORPHA:2117
Macdermot-Winter Syndrome
Hydronephrosis, Microcephaly, Posteriorly rotated ears, Macrotia, Camptodactyly of finger OMIM:247990
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Atrial septal defect, Wide nasal bridge, Microtia, Hypoplasia of the... ORPHA:261295
Camptodactyly Syndrome, Guadalajara Type 1
Narrow mouth, High palate, Scapular winging, Open bite, Abnormality of dental eruption, Microtia,... ORPHA:1327
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Low-set, posteriorly rotated ears, Thin vermilion border, Short nose, Abnormal card... ORPHA:2370
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Exertional dyspnea, Bronchiolitis, Pulmonary fibrosis ORPHA:254361
Osteopathia Striata With Cranial Sclerosis
Bifid uvula, Craniofacial osteosclerosis, Micrognathia, Multicystic kidney dysplasia, Ventricular... OMIM:300373
Takenouchi-Kosaki Syndrome
Unilateral renal agenesis, Progressive microcephaly, Long philtrum, Cryptorchidism, Hydronephrosi... OMIM:616737
Prader-Willi Syndrome Due To Translocation
Bifid uvula, Everted lower lip vermilion, Micrognathia, Microcephaly, Iris hypopigmentation, Retr... ORPHA:177907
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyria, Occipital cortical atrophy, O... ORPHA:98754
Obesity-Hypoventilation Syndrome
Cyanosis, Hypoventilation OMIM:257500
Hypothyroidism, Congenital, Nongoitrous, 6
Wormian bones, Delayed eruption of teeth, Increased T3/T4 ratio, Impaired sensitivity to thyroid ... OMIM:614450
Combined Oxidative Phosphorylation Deficiency 33
Hypothyroidism, Nephrotic syndrome, Sensorineural hearing impairment, Hepatomegaly, Myopathy, Car... OMIM:617713
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Retinal coloboma, Microphthalmia, Pachygyria, Oral cleft, Polymicrogy... ORPHA:2328
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Micropenis, Gingival bleeding, Microphthalmia, Right v... ORPHA:335
Cockayne Syndrome Type 2
Anophthalmia, Flexion contracture, Developmental cataract, Uveitis, Enamel hypoplasia, Widely spa... ORPHA:90322
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Narrow mouth, Cerebral atrophy, Short philtrum, Long philtrum, Low-set ears, Abnormality of the d... OMIM:618443
Cataract 21, Multiple Types
Cortical pulverulent cataract, Microcornea, Cerulean cataract, Macular hypoplasia, Iris coloboma OMIM:610202
Pallister-Hall-Like Syndrome
Hypothalamic hamartoma, Occipital encephalocele, Anterior hypopituitarism, Micrognathia, Microglo... OMIM:241800
Chromosome 1P35 Deletion Syndrome
Narrow mouth, High palate, Cryptorchidism, Wide nasal bridge, Micrognathia, Microcephaly, Thin up... OMIM:617930
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyria, Occipital cortical atrophy, O... ORPHA:98793
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Absent nares, Agenesis of corpus callosum, Aplasia/Hypoplasia involving the nose, H... ORPHA:990
Cerebrocostomandibular Syndrome
Cerebral calcification, Myelomeningocele, Conductive hearing impairment, Atresia of the external ... ORPHA:1393
Arthrogryposis, Distal, Type 1C
Narrow mouth, High palate, Bifid uvula, Camptodactyly of finger, Cryptorchidism, Knee flexion con... OMIM:619110
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyria, Occipital cortical atrophy, O... ORPHA:177904
Scimitar Syndrome
Pulmonary artery hypoplasia, Tricuspid atresia, Hernia, Dextrocardia, Double outlet right ventric... ORPHA:185
Axial Mesodermal Dysplasia Spectrum
Hydrocephalus, Renal cyst, Abnormality of the ureter, Hydronephrosis, Microtia, Congenital diaphr... ORPHA:1834
Raine Syndrome
Hydronephrosis, Microdontia, Micrognathia, Microcephaly, Arthrogryposis multiplex congenita, Mand... OMIM:259775
Arthrogryposis Multiplex Congenita 6
Neonatal death, Death in infancy, Respiratory failure, Death in childhood OMIM:619334
Williams-Beuren Region Duplication Syndrome
Unilateral renal agenesis, Broad nasal tip, Hydrocephalus, High palate, Short philtrum, Patent du... OMIM:609757
Chromosome 1P36 Deletion Syndrome, Proximal
Micrognathia, Microcephaly, Ventricular septal defect, Cleft palate, High palate, Patent foramen ... OMIM:619343
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary infiltrates, Intraalveolar phospholipid accumulation, Interstitial pneumonitis, Tachypn... ORPHA:217563
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Intestinal lymphangiectasia, Cryptorchidism, Hydronephrosis, Thyroid lymphangiectasia, Ventricula... OMIM:235510
Sarcoidosis, Susceptibility To, 2
Emphysema, Pulmonary infiltrates, Restrictive ventilatory defect, Hypoxemia, Elevated bronchoalve... OMIM:612387
Congenital Pulmonary Lymphangiectasia
Cyanosis, Pleural effusion, Cough, Pulmonary arterial hypertension, Chronic pulmonary obstruction... ORPHA:2414
Pai Syndrome
Bifid uvula, Encephalocele, Aplasia/Hypoplasia of the corpus callosum, Cleft palate, Abnormal ora... ORPHA:1993
Prader-Willi-Like Syndrome
Central hypothyroidism, Cryptorchidism, Perisylvian polymicrogyria, Occipital cortical atrophy, O... ORPHA:398073
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Narrow mouth, Short philtrum, Agenesis of corpus callosum, Low-set ears, Atrial septal defect, Sm... OMIM:617360
Mosaic Trisomy 14
High palate, Cryptorchidism, Wide nasal bridge, Aplasia/Hypoplasia affecting the eye, Micrognathi... ORPHA:1703
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Accessory oral frenulum, Nephronophthisis, Renal cyst, Craniosynostosis, Stage 5 chronic kidney d... OMIM:266920
Tonne-Kalscheuer Syndrome
Narrow mouth, Velopharyngeal insufficiency, Micropenis, Cryptorchidism, Wide nasal bridge, Congen... OMIM:300978
Culler-Jones Syndrome
Cleft upper lip, Diabetes insipidus, Anterior pituitary hypoplasia, Hypopituitarism, Cryptorchidi... OMIM:615849
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Narrow mouth, Pierre-Robin sequence, Abnormal palate morphology, Abnormality of the nose, Microgn... ORPHA:1150
Aredyld Syndrome
Narrow mouth, Abnormality of the ureter, Craniofacial hyperostosis, Splenomegaly, Hepatomegaly, L... ORPHA:1133
Tarp Syndrome
Tongue nodules, High palate, Tetralogy of Fallot, Abnormal corpus callosum morphology, Horseshoe ... OMIM:311900
Diets-Jongmans Syndrome
Broad nasal tip, Long ear, Cryptorchidism, Heterotaxy, Interrupted inferior vena cava with azygou... OMIM:618846
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Dilated cardiomyopathy, Absent muscle dystrophin expression, Abnormality of the shoulder girdle m... ORPHA:206546
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Abnormal palate morphology, Cryptorchidism, Microcornea, Radioulnar synos... ORPHA:921
Hypothyroidism, Congenital, Nongoitrous, 4
Congenital hypothyroidism, Macroglossia, Wide anterior fontanel, Depressed nasal bridge, Omphaloc... OMIM:275100
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Left ventricular noncompaction, Left ventricular hypertrophy, Restrictive... OMIM:613424
Teebi-Shaltout Syndrome
Broad nasal tip, Small earlobe, Underdeveloped nasal alae, Hydronephrosis, High, narrow palate, M... OMIM:272950
Microform Holoprosencephaly
Short philtrum, Hypothyroidism, Solitary median maxillary central incisor, Agenesis of corpus cal... ORPHA:280200
Fryns Syndrome
Long philtrum, Cryptorchidism, Hydronephrosis, Hypoplasia of the optic tract, Tented upper lip ve... OMIM:229850
Congenital Pulmonary Veins Atresia Or Stenosis
Respiratory insufficiency ORPHA:3188
Auriculocondylar Syndrome 1
Narrow mouth, Cupped ear, Cleft at the superior portion of the pinna, Low-set ears, Overfolding o... OMIM:602483
Pterygium Of Conjunctiva And Cornea
Abnormal conjunctiva morphology, Pterygium OMIM:178000
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Hypogonadotropic hypogonadism, Decreased circulating follicle stimulating hormone concentration, ... ORPHA:226307
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Hydrocephalus, Cleft upper lip, Agenesis of corpus callosum, Persistent pupillary membrane, Catar... OMIM:613150
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Solitary median maxillary central incisor, Thoracic aortic aneurysm, Patent ductus a... OMIM:619657
Zaki Syndrome
Renal agenesis, High palate, Short philtrum, Cupped ear, Patent foramen ovale, Patent ductus arte... OMIM:619648
Staphylococcal Necrotizing Pneumonia
Nonproductive cough, Pulmonary infiltrates, Pulmonary pneumatocele, Pneumonia, Hypoxemia, Parench... ORPHA:36238
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Glass Syndrome
Narrow mouth, Long nose, High palate, Bulbous nose, Low-set ears, Conical tooth, Oligodontia, Nar... OMIM:612313
Desmosterolosis
Abnormal cortical gyration, Bifid uvula, Micrognathia, Microcephaly, Lissencephaly, Macrogyria, R... ORPHA:35107
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Cyanosis, Respiratory distress ORPHA:91130
Gaucher Disease Type 2
Recurrent respiratory infections, Abnormal pattern of respiration, Respiratory distress, Cough ORPHA:77260
Pierpont Syndrome
Abnormal cortical gyration, Cryptorchidism, Microcornea, Joint laxity, Everted lower lip vermilio... ORPHA:487825
49,Xxxxy Syndrome
Open bite, Cryptorchidism, Renal dysplasia, Mandibular prognathia, Cleft palate, Decreased testic... ORPHA:96264
Trigonocephaly 1
Craniosynostosis, Long penis, Microcephaly, Omphalocele, Trigonocephaly OMIM:190440
Lambotte Syndrome
Semilobar holoprosencephaly, Narrow mouth, Atresia of the external auditory canal, Convex nasal r... OMIM:245552
Charge Syndrome
Hypothyroidism, Cryptorchidism, Dysplastic tricuspid valve, Hydronephrosis, Aplasia of the semici... OMIM:214800
Coffin-Siris Syndrome 10
Anteverted nares, Low-set ears, Microcephaly, Ventricular septal defect, Posteriorly rotated ears... OMIM:618506
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Microphthalmia With Limb Anomalies
High palate, Anophthalmia, Cleft upper lip, Low-set ears, Flared nostrils, Deep philtrum, Microph... OMIM:206920
3Mc Syndrome 1
Lambdoidal craniosynostosis, Skull asymmetry, Cleft upper lip, Coronal craniosynostosis, Patent d... OMIM:257920
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Long philtrum, Abnormally large globe, Microdontia, Micrognathia, Inguinal hernia, Cardiomegaly, ... OMIM:245600
Kleefstra Syndrome
Hernia, Cryptorchidism, Hydronephrosis, Everted lower lip vermilion, Tented upper lip vermilion, ... ORPHA:261494
Thakker-Donnai Syndrome
Communicating hydrocephalus, Narrow mouth, Tetralogy of Fallot, Agenesis of corpus callosum, Bulb... ORPHA:1780
Encephalocraniocutaneous Lipomatosis
Hydrocephalus, Subcutaneous lipoma, Agenesis of corpus callosum, Multiple central nervous system ... OMIM:613001
Cardiac Diverticulum
Pulmonary artery hypoplasia, Tricuspid atresia, Diastasis recti, Dextrocardia, Mitral stenosis, V... ORPHA:1686
Meckel Syndrome, Type 5
Cleft upper lip, Bile duct proliferation, Occipital encephalocele, Anencephaly, Microphthalmia, A... OMIM:611561
Anophthalmia Plus Syndrome
Anophthalmia, Non-midline cleft lip, Spina bifida, Bilateral cleft lip and palate, Cleft palate, ... ORPHA:1104
Developmental And Epileptic Encephalopathy 70
Narrow mouth, Flexion contracture, Low-set ears, Cryptorchidism, Microcephaly, Cerebral cortical ... OMIM:618298
Microhydranencephaly
Multiple joint contractures, Agenesis of corpus callosum, Skeletal muscle atrophy, Cerebellar hyp... OMIM:605013
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Respiratory failure OMIM:225753
Alg3-Cdg
Lipodystrophy, High palate, Hypoplasia of the corpus callosum, Abnormality of the nose, Abnormal ... ORPHA:79321
Thomas Syndrome
Cleft upper lip, Dolichocephaly, Multicystic kidney dysplasia, Hypoplastic left heart, Renal hypo... ORPHA:3316
Ceroid Lipofuscinosis, Neuronal, 10
Neonatal death, Apnea, Respiratory failure, Respiratory insufficiency OMIM:610127
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Long philtrum, Optic nerve hypoplasia, Micrognathia, Microcephaly, Spina bifida, Ventricular sept... ORPHA:508498
Microphthalmia, Syndromic 2
Broad nasal tip, Hypothyroidism, Bifid uvula, Long philtrum, Cryptorchidism, Radiculomegaly, Dext... OMIM:300166
Curry-Jones Syndrome
Craniosynostosis, Agenesis of corpus callosum, Microphthalmia, Optic disc coloboma, Iris coloboma ORPHA:1553
X-Linked Intellectual Disability, Schimke Type
High palate, Hydronephrosis, Ankle flexion contracture, Knee flexion contracture, Narrow nasal br... ORPHA:85285
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Narrow mouth, Broad nasal tip, Abnormal cerebral white matter morphology, Micrognathia, Microceph... OMIM:617755
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Bifid uvula, Cleft palate, Hydrocephalus OMIM:258320
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Anencephaly, Micrognathia, Hydrocephalus, Cleft palate OMIM:614120
Peroxisome Biogenesis Disorder 6A (Zellweger)
Renal cyst, Colpocephaly, Low-set ears, Wide nasal bridge, Hepatomegaly, Pachygyria OMIM:614870
Chromosome 2P16.1-P15 Deletion Syndrome
Long philtrum, Cryptorchidism, Hydronephrosis, Optic nerve hypoplasia, Everted lower lip vermilio... OMIM:612513
Holoprosencephaly 1
Diabetes insipidus, Agenesis of corpus callosum, Micropenis, Cerebellar hypoplasia, Ethmocephaly,... OMIM:236100
Monosomy 18Q
Hypothyroidism, Cerebellar hypoplasia, Microcephaly, Mandibular prognathia, Dysplastic pulmonary ... ORPHA:1600
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Abnormal renal corticomedullary differentiation, Renal dysplasia, Left ventr... OMIM:616733
Distal Trisomy 5Q
Narrow mouth, Craniosynostosis, Long philtrum, Low-set ears, Hernia, Cryptorchidism, Carious teet... ORPHA:96097
Renal Tubular Dysgenesis
Tetralogy of Fallot, Proximal tubulopathy, Microcephaly, Nephropathy, Renotubular dysgenesis, Mul... ORPHA:3033
2Q32Q33 Microdeletion Syndrome
Narrow mouth, High palate, Thin vermilion border, Long philtrum, Low-set ears, Oligodontia, Conve... ORPHA:251019
Joubert Syndrome 37
High palate, Low-set ears, Micropenis, Hydronephrosis, Cryptorchidism, Cerebellar vermis hypoplas... OMIM:619185
Nemaline Myopathy 2
Long philtrum, Increased variability in muscle fiber diameter, Limb muscle weakness, Calf muscle ... OMIM:256030
Specc1L-Related Hypertelorism Syndrome
Tetralogy of Fallot, Ectopic kidney, Abnormal helix morphology, Patent ductus arteriosus, Low-set... ORPHA:1519
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia, Pulmonary hypoplasia ORPHA:2140
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Hydronephrosis, Cerebellar hypoplasia, Optic nerve hypoplasia, Global brain atrop... OMIM:301056
Flat Face-Microstomia-Ear Anomaly Syndrome
Narrow mouth, Long nose, Long philtrum, Underdeveloped nasal alae, Abnormal oral mucosa morpholog... ORPHA:1968
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Intellectual Developmental Disorder, Autosomal Dominant 43
Narrow mouth, Cerebral atrophy, Wide nasal bridge, Microcephaly, Prominent nasal bridge, Hypoplas... OMIM:616977
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Overriding aorta, Median cleft lip, Tetralogy of Fallot, Absent gallbladder, Atresia of the exter... ORPHA:3186
Chronic Beryllium Disease
Abnormal respiratory system physiology, Hypersensitivity pneumonitis, Reticulonodular pattern on ... ORPHA:133
Microphthalmia, Lenz Type
Chorioretinal coloboma, Delayed eruption of teeth, Abnormality of the dentition, Aplasia/Hypoplas... ORPHA:568
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dandy-Walker malformation, Ventricular septal defect, Narrow mouth, H... OMIM:612582
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Astigmatism, Widely spaced teeth, Microdontia, Micrognathia, Knee flexion contracture, ... OMIM:619694
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
High palate, Enamel hypoplasia, Iris coloboma, Microcephaly, Malar flattening, Bilateral cleft li... OMIM:618874
Usher Syndrome, Type 1M
Prelingual sensorineural hearing impairment, Left ventricular hypertrophy OMIM:618632
Pagod Syndrome
Pulmonary artery hypoplasia, Abnormal testis morphology, Situs inversus totalis, Congenital diaph... ORPHA:991
Cranioectodermal Dysplasia 2
Bile duct proliferation, Everted lower lip vermilion, Widely spaced teeth, Microdontia, Micrognat... OMIM:613610
8P Inverted Duplication/Deletion Syndrome
Small hypothenar eminence, Long philtrum, Cryptorchidism, Hydronephrosis, Cerebellar hypoplasia, ... ORPHA:96092
Edinburgh Malformation Syndrome
Narrow mouth, Thin vermilion border, Low-set ears, Aplasia/Hypoplasia affecting the eye, Microgna... ORPHA:1895
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hernia, Congenital hypothyroidism, Hypoplasia of right ventricle, Ventricular septal defect, Inte... ORPHA:2255
Cerebellar-Facial-Dental Syndrome
Long philtrum, Cryptorchidism, Hydronephrosis, Cerebellar hypoplasia, Micrognathia, Microcephaly,... ORPHA:444072
Cardiomyopathy, Familial Hypertrophic, 25
Dilated cardiomyopathy, Left ventricular hypertrophy OMIM:607487
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Broad nasal tip, Plagiocephaly, Craniosynostosis, Patent ductus arteriosus, Atrial septal defect,... ORPHA:457193
Charlie M Syndrome
Narrow mouth, Short philtrum, Non-midline cleft lip, Wide nasal bridge, Micrognathia, Macrotia, T... ORPHA:1406
Pelvis-Shoulder Dysplasia
Hydrocephalus, Thick anterior alveolar ridges, Hydronephrosis, Hydranencephaly, Microtia, Microgn... ORPHA:2839
Faciocardiorenal Syndrome
Narrow mouth, Plagiocephaly, Horseshoe kidney, Underdeveloped nasal alae, Endocardial fibroelasto... ORPHA:1973
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Long philtrum, Central hypothyroidism, Cryptorchidism, Cerebellar hypoplasia, Microcephaly, Ingui... OMIM:300998
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia, Neural tube defect, Bilateral cleft lip and palate, Macrotia OMIM:600776
Richieri-Costa/Guion-Almeida Syndrome
Cleft upper lip, Microcephaly, Malar flattening, Mandibular prognathia, Cleft palate, Spina bifid... OMIM:268850
Nephronophthisis 16
Enlarged kidney, Patent ductus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, P... OMIM:615382
Semilobar Holoprosencephaly
Bifid uvula, Diabetes insipidus, Central hypothyroidism, Panhypopituitarism, Abnormal morphology ... ORPHA:220386