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
Intellectual Developmental Disorder, Autosomal Recessive 46
Mandibular prognathia, Widely spaced teeth, Protruding ear OMIM:616116

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Aplasia Of Lacrimal And Salivary Glands
Lacrimal gland hypoplasia, Absent lacrimal punctum, Lacrimal gland aplasia OMIM:180920
Genitopalatocardiac Syndrome
Ventricular septal defect, Hypospadias, Cleft upper lip, Micrognathia, Cleft palate, Renal cyst, ... OMIM:231060
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Cough, A... ORPHA:70589
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
22Q11.2 Duplication Syndrome
Wide nose, Ventricular septal defect, Micrognathia, Microcephaly, Urethral stenosis, Depressed na... ORPHA:1727
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly OMIM:165600
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Ventricular septal defect, Unilateral renal agenesis, Microcephaly, Underdeveloped nasal alae, Cl... OMIM:601355
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys... OMIM:265120
Heart And Brain Malformation Syndrome
Attached earlobe, Cerebellar vermis hypoplasia, High, narrow palate, Dandy-Walker malformation, A... OMIM:616920
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Cyanosis, Type II pneumocyte hypertrophy, Desquamative interstitial pneumon... OMIM:263000
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemi... ORPHA:70587
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Crackle... ORPHA:79126
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Pulmonary Nodular Lymphoid Hyperplasia
Dyspnea, Ground-glass opacification, Nodular pattern on pulmonary HRCT, Cough ORPHA:60026
Aminopterin/Methotrexate Embryofetopathy
Mandibular prognathia, Encephalocele, Low-set, posteriorly rotated ears, Ventricular septal defec... ORPHA:1908
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Ventricular septal defect, Renal agenesis, Micrognathia, Microcephaly, High, narrow palate, Under... ORPHA:2516
14Q24.1Q24.3 Microdeletion Syndrome
Thin upper lip vermilion, Midface retrusion, Ventricular septal defect, Prominent nasal bridge, E... ORPHA:401935
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Pulmonary Blastoma
Pleuropulmonary blastoma, Dyspnea, Recurrent pneumonia, Pulmonary infiltrates, Cough ORPHA:64741
Microphthalmia, Syndromic 9
Anophthalmia, Congenital diaphragmatic hernia, Micrognathia, Atrial septal defect, Diaphragmatic ... OMIM:601186
Diabetic Embryopathy
Ureteral duplication, Micrognathia, Aplasia/Hypoplasia of the cerebellum, Micropenis, Abnormality... ORPHA:1926
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Osteopoikilosis And Dacryocystitis
Dacryocystitis OMIM:166705
Skraban-Deardorff Syndrome
Ventricular septal defect, Anteverted nares, Depressed nasal bridge, Micrognathia, Absent cupid's... OMIM:617616
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Orofacial cleft, Holoprosencephaly, Chorioretinal colobom... OMIM:611638
Verheij Syndrome
Branchial cyst, Thin upper lip vermilion, Ventricular septal defect, Optic nerve hypoplasia, Ante... OMIM:615583
Chromosome 13Q33-Q34 Deletion Syndrome
Irregular dentition, Tented upper lip vermilion, Micrognathia, Brachycephaly, High palate, Short ... OMIM:619148
14Q11.2 Microdeletion Syndrome
Low-set, posteriorly rotated ears, Ventricular septal defect, Exaggerated cupid's bow, Depressed ... ORPHA:261120
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Microphthalmia, Syndromic 12
Anophthalmia, Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Broad nas... OMIM:615524
Emphysema, Hereditary Pulmonary
Emphysema, Chronic pulmonary obstruction, Chronic bronchitis OMIM:130700
Congenitally Uncorrected Transposition Of The Great Arteries
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... ORPHA:860
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Ventricular septal defect, Congenital diaphragmatic hernia, Micrognathia, Microcephaly, Cryptorch... ORPHA:1166
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Omphalocele, Thin upper lip vermilion, Overriding aorta, Ventricular septal defect, Depressed nas... OMIM:601927
Meckel Syndrome, Type 4
Encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Microcephaly, Hydrocepha... OMIM:611134
Meckel Syndrome, Type 8
Encephalocele, Occipital encephalocele, Anophthalmia, Cleft upper lip, Pericardial effusion, Micr... OMIM:613885
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Situs inversus totalis, Patent ductus arteriosus, Right aortic arch, Interrupted ... OMIM:618300
Emanuel Syndrome
Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect... OMIM:609029
Pulmonary Alveolar Proteinosis, Acquired
Recurrent respiratory infections, Lung abscess, Cyanosis, Pneumonia, Dyspnea, Intraalveolar phosp... OMIM:610910
Cerebrooculonasal Syndrome
Anophthalmia, Cerebellar vermis hypoplasia, Brachycephaly, Downturned corners of mouth, High pala... OMIM:605627
Double Outlet Right Ventricle
Hypoparathyroidism, Ventricular septal defect, Depressed nasal bridge, Abnormality of cartilage o... ORPHA:3426
Septooptic Dysplasia
Optic disc hypoplasia, Absent septum pellucidum, Optic nerve hypoplasia, Decreased response to gr... OMIM:182230
Recombinant Chromosome 8 Syndrome
Micrognathia, Brachycephaly, Downturned corners of mouth, Atrial septal defect, Anteverted nares,... OMIM:179613
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Heterotaxy, Visceral, 7, Autosomal
Dextrocardia, Mitral atresia, Situs inversus totalis, Common atrium, Hypoplasia of right ventricl... OMIM:616749
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Frontal bossing, Ventricular septal defect, Abnormally large globe, Mega... OMIM:603387
Holoprosencephaly 9
Anophthalmia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasi... OMIM:610829
Chromosome 22Q11.2 Deletion Syndrome, Distal
Thin upper lip vermilion, Underdeveloped nasal alae, Cleft palate, Malar flattening, Truncus arte... OMIM:611867
Trisomy 1Q
Microretrognathia, Frontal bossing, Wide nose, Anophthalmia, Ventricular septal defect, Camptodac... ORPHA:261344
Pentalogy Of Cantrell
Encephalocele, Absent gallbladder, Omphalocele, Ventricular septal defect, Abnormal pericardium m... ORPHA:1335
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Omphalocele, Frontal bossing, Cloverleaf skull, Ventricular septal defect, Micrognathia, Wide nas... ORPHA:93267
Velocardiofacial Syndrome
Hypoparathyroidism, Inguinal hernia, Ventricular septal defect, Microcephaly, Underdeveloped nasa... OMIM:192430
Diprosopus
Abnormality of the nose, External ear malformation, Non-midline cleft lip, Anencephaly, Cleft pal... ORPHA:1681
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Glycogen Storage Disease 0, Muscle
Decreased muscle glycogen content, Left atrial enlargement, Cardiomyopathy, Stroke, Left ventricu... OMIM:611556
Structural Heart Defects And Renal Anomalies Syndrome
Renal insufficiency, Ventricular septal defect, Microcephaly, Partial agenesis of the corpus call... OMIM:617478
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ventricular septal defect, Spina bifida, Non-midline cleft lip, Anencephaly, Cleft palate, Hypopl... ORPHA:2476
Holoprosencephaly 14
Frontal bossing, Median cleft lip, Ventricular septal defect, Absent septum pellucidum, Anteverte... OMIM:619895
Holoprosencephaly 3
Depressed nasal bridge, Proboscis, Microcephaly, Abnormality of the nose, Cleft lip, Single naris... OMIM:142945
Chronic Pneumonitis Of Infancy
Respiratory distress, Cyanosis, Intercostal retractions, Ground-glass opacification, Reduced forc... ORPHA:91359
Burn-Mckeown Syndrome
Mandibular prognathia, Micrognathia, Protruding ear, Short philtrum, Conductive hearing impairmen... OMIM:608572
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Respiratory tract infection, Dyspnea, ... ORPHA:1303
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Cleft upper lip, Cleft palate, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:120433
Hydrolethalus
Low-set, posteriorly rotated ears, Anophthalmia, Absent septum pellucidum, Micrognathia, Cryptorc... ORPHA:2189
8P23.1 Duplication Syndrome
Wide nose, Ventricular septal defect, Thick vermilion border, Adrenal insufficiency, Pulmonic ste... ORPHA:251076
Fryns Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Micrognathia, Abnormal aortic arch m... ORPHA:2059
Trisomy 13
Anophthalmia, High, narrow palate, Hernia, Atrial septal defect, Cryptorchidism, Patent ductus ar... ORPHA:3378
Arthrogryposis, Distal, Type 2E
Foot joint contracture, Micrognathia, Microcephaly, Trismus, Distal arthrogryposis, Narrow mouth,... OMIM:121070
Emanuel Syndrome
Multiple joint contractures, Dental crowding, Congenital diaphragmatic hernia, Micrognathia, High... ORPHA:96170
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Parachute mitral valve, Prominent nose, Short philtrum, Atrial septal defect, Pulmonary artery at... OMIM:618316
Anencephaly 2
Anophthalmia, Median cleft lip, Anencephaly, Cleft maxillary alveolar ridge, Bifid nose, Median c... OMIM:619452
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Wide nose, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test,... OMIM:300845
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Complete atrioventricular canal defect, Dextrotransposit... OMIM:613751
High Altitude Pulmonary Edema
Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary opacity, Pulmonary... ORPHA:330012
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Anteverted nares, Narrow nasal ridge, Bulbous nose, Renal hypoplasia, Renal cy... OMIM:236500
Schisis Association
Encephalocele, Omphalocele, Renal agenesis, Congenital diaphragmatic hernia, Microcephaly, Spina ... ORPHA:63862
1Q21.1 Microdeletion Syndrome
Frontal bossing, Inguinal hernia, Microcephaly, Cryptorchidism, Patent ductus arteriosus, Hydroce... ORPHA:250989
Stevenson-Carey Syndrome
Prominent nasal tip, Recurrent urinary tract infections, Anteverted nares, Posteriorly rotated ea... OMIM:611961
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Ground-glass opacification, Non... ORPHA:1302
Chromosome 9P Deletion Syndrome
Micrognathia, High, narrow palate, Deep philtrum, High palate, Atrial septal defect, Micropenis, ... OMIM:158170
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Pseudotrisomy 13 Syndrome
Adrenal hypoplasia, Holoprosencephaly, Atrial septal defect, Micropenis, Agenesis of corpus callo... OMIM:264480
Carpenter Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Brachycephaly, High palate, Atrial septal defect, Conduc... OMIM:201000
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Telecanthus, Streak ovary, Ectropion, Duplicated lacrimal punctum, Elevat... ORPHA:572333
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis ORPHA:91416
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Fusion of the left and right thalami, Abnormality of the anterior commissure, Hydrocephalus, Agen... OMIM:617542
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Meckel Syndrome, Type 10
Occipital encephalocele, Frontal bossing, Abnormal pinna morphology, Hypospadias, Anencephaly, Cl... OMIM:614175
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Inguinal hernia, Anteverted nares, Patent ductus arteriosus, Depres... ORPHA:2412
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Depressed nasal bridge, Nephrogenic rest... OMIM:267000
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Micrognathia, Renal cyst, Short ph... OMIM:618454
Stankiewicz-Isidor Syndrome
Ureteral duplication, Ventricular septal defect, Hypospadias, Micrognathia, Prominent nose, Crypt... OMIM:617516
Atrioventricular Septal Defect, Susceptibility To, 2
Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran... OMIM:606217
Microcephaly-Capillary Malformation Syndrome
Wide nose, Ventricular septal defect, Hearing impairment, Hypoplasia of the maxilla, Simplified g... OMIM:614261
Thoracoabdominal Syndrome
Omphalocele, Ventral hernia, Renal agenesis, Hypospadias, Congenital diaphragmatic hernia, Cleft ... OMIM:313850
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Depressed nasal bridge, Micrognathia, Microcephaly, Cryptorchidism, Bulbous nose, Thin vermilion ... OMIM:618766
Ciliary Dyskinesia, Primary, 37
Dextrocardia, Situs inversus totalis, Goiter, Right aortic arch, Chronic rhinitis, Hypothyroidism... OMIM:617577
Meckel Syndrome, Type 2
Encephalocele, Omphalocele, Meningocele, Anencephaly, Cleft palate, Renal cyst, Bile duct prolife... OMIM:603194
Weiss-Kruszka Syndrome
Ventricular septal defect, Bicuspid aortic valve, Exaggerated cupid's bow, Anteverted nares, Hear... OMIM:618619
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Posteriorly rotated ears, Congenital diaphragmatic hernia, Micrognathia, Microcephal... OMIM:263210
Surfactant Metabolism Dysfunction, Pulmonary, 5
Ground-glass opacification, Dyspnea, Intraalveolar phospholipid accumulation, Respiratory insuffi... OMIM:614370
Trisomy 18
Congenital diaphragmatic hernia, Pointed helix, Holoprosencephaly, Hernia, Atrial septal defect, ... ORPHA:3380
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia ORPHA:141152
Sonoda Syndrome
Depressed nasal bridge, Ventricular septal defect, Narrow mouth OMIM:270460
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia, Horseshoe kidney, Increased urinary 8-oxo-7,8-dihyd... OMIM:613630
Mosaic Trisomy 1
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Orofacial cleft, Renal cyst, Pulmo... ORPHA:1692
Congenital Heart Defects, Multiple Types, 6
Ventricular septal defect, Hypoplastic pulmonary veins, Secundum atrial septal defect, Complete a... OMIM:613854
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microcoria, Chorioretinal coloboma, Microphthalmia, Iris coloboma OMIM:616428
Proboscis Lateralis
Anophthalmia, Single naris, Orofacial cleft, Abnormality of the maxillary sinus, High palate, Hol... ORPHA:141099
Intellectual Developmental Disorder, Autosomal Dominant 21
Posteriorly rotated ears, Microcephaly, Cryptorchidism, Patent ductus arteriosus, Cleft palate, C... OMIM:615502
Congenital Hydrocephalus
Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Macular hypoplasi... ORPHA:2185
Acitretin/Etretinate Embryopathy
Aplasia/Hypoplasia of the maxilla, Anteverted nares, Micrognathia, Microcephaly, Cupped ear, Cono... ORPHA:40366
Interstitial Lung Disease 1
Nonspecific interstitial pneumonia, Crackles, Intralobular septal thickening, Cough, Dyspnea, Gro... OMIM:619611
Temtamy Syndrome
Micrognathia, Thick lower lip vermilion, Aplasia/Hypoplasia of the corpus callosum, Joint hyperfl... ORPHA:1777
Triploidy
Low-set, posteriorly rotated ears, Hepatomegaly, Hypoplasia of penis, Omphalocele, Hypospadias, M... ORPHA:3376
Otodental Syndrome
Delayed eruption of teeth, Cataract, Abnormal dental enamel morphology, Agenesis of premolar, Car... ORPHA:2791
Laryngotracheal Angioma
Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis ORPHA:126
Miller-Dieker Syndrome
Omphalocele, Anteverted nares, Abnormal upper lip morphology, Lissencephaly, Hypoplasia of the co... ORPHA:531
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Bicuspid aortic valve, Parachute mitral valve, Micrognathia, Asplenia, Brachycephaly, Atrial sept... OMIM:265380
Craniofacioskeletal Syndrome
Thin upper lip vermilion, Absent gallbladder, Ventricular septal defect, Choanal atresia, Posteri... OMIM:300712
Fetal Valproate Spectrum Disorder
Omphalocele, Narrow mouth, Depressed nasal ridge, Downturned corners of mouth, Thin vermilion bor... ORPHA:1906
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Right aortic arch with mirror image branching, Microcephaly OMIM:107500
Ritscher-Schinzel Syndrome 1
Ventricular septal defect, Depressed nasal bridge, Decreased response to growth hormone stimulati... OMIM:220210
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Cerebellar vermis hypoplasia, High, narrow palate, Atrial septal defect, Patent foramen ovale, Cr... OMIM:618494
Temtamy Syndrome
Dental crowding, Ectopia lentis, Lens luxation, Micrognathia, Thick corpus callosum, Hypoplasia o... OMIM:218340
Trisomy 17P
Skeletal muscle atrophy, Hypoplasia of penis, Micrognathia, Prominent nose, Flexion contracture, ... ORPHA:261290
Meckel Syndrome, Type 7
Multicystic kidney dysplasia, Multiple glomerular cysts, Inguinal hernia, Situs inversus totalis,... OMIM:267010
Ring Chromosome 8 Syndrome
Frontal bossing, Anteverted nares, Abnormality of the ureter, Round ear, Short nose, Hydronephros... ORPHA:1450
Microcephaly-Microcornea Syndrome, Seemanova Type
Microcephaly, Brachycephaly, High palate, Hypogonadism, Narrow mouth, Microphthalmia, Retrognathia ORPHA:2528
Cataract 9, Multiple Types
Progressive cataract, Cataract, Developmental cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:604219
Distal Deletion 13Q
Encephalocele, Microcephaly, Renal hypoplasia/aplasia, Anencephaly, Primary adrenal insufficiency... ORPHA:1590
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Dextrotransposition of the great arteries, Pulmonary artery atresia, Atrial septa... OMIM:619702
Cerebrooculofacioskeletal Syndrome 3
Micrognathia, Microcephaly, Cleft palate, Agenesis of corpus callosum, Microphthalmia, Arthrogryp... OMIM:616570
Aorta Coarctation
Bicuspid aortic valve, Pseudocoarctation of the aorta, Cardiomegaly, Patent ductus arteriosus, Hy... ORPHA:1457
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Mandibular prognathia, Low-set, posteriorly rotated ears, Overriding aorta, Prominent nasal bridg... ORPHA:1110
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Depressed nasal bridge, Megalencephaly, Abnormal nasal morphology, Hyd... ORPHA:83473
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Hydranencephaly, Camptodactyly of finger, Micrognathia, Microcephaly... ORPHA:2570
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Microphthalmia With Brain And Digit Anomalies
Cataract, Anophthalmia, Sclerocornea, Microcephaly, Cryptorchidism, Microcornea, High palate, Cho... ORPHA:139471
Oculoauriculofrontonasal Syndrome
Encephalocele, Pericallosal lipoma, Wide nose, Ventricular septal defect, Micrognathia, Microceph... ORPHA:398156
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Situs inversus totalis, Double outlet right ventricle, Right aortic arch, Hypoplast... OMIM:614779
Truncus Arteriosus
Abnormal coronary artery morphology, Anomalous origin of one pulmonary artery from ascending aort... ORPHA:3384
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Whistling Face Syndrome, Recessive Form
Inguinal hernia, Shoulder flexion contracture, Prominent nasal bridge, Micrognathia, Underdevelop... OMIM:277720
Alacrima, Congenital, Autosomal Dominant
Lacrimal gland hypoplasia, Lacrimal punctal atresia OMIM:103420
Meier-Gorlin Syndrome 8
Micrognathia, Bilateral cryptorchidism, Nephroptosis, Unilateral renal hypoplasia, Microtia, Thic... OMIM:617564
Renpenning Syndrome
Mandibular prognathia, Skeletal muscle atrophy, Decreased testicular size, Diabetes mellitus, Mac... ORPHA:3242
Teebi Hypertelorism Syndrome 1
Omphalocele, Thin upper lip vermilion, Natal tooth, Frontal bossing, Ventricular septal defect, D... OMIM:145420
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence OMIM:300717
Vacterl/Vater Association
Low-set, posteriorly rotated ears, Occipital encephalocele, Hypoplasia of penis, Multicystic kidn... ORPHA:887
Oculocerebrocutaneous Syndrome
Anophthalmia, Cryptorchidism, Orbital encephalocele, Cleft palate, Hypoplasia of the corpus callo... OMIM:164180
Intellectual Developmental Disorder, Autosomal Dominant 26
Prominent nasal tip, Inguinal hernia, Anteverted nares, Depressed nasal bridge, Micrognathia, Mic... OMIM:615834
17P13.3 Microduplication Syndrome
Frontal bossing, Wide nose, Hypoplasia of penis, Inguinal hernia, High palate, Hypoplasia of the ... ORPHA:217385
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Aortopulmonary collateral arteries, Right aortic arch, Pulmonic s... OMIM:618780
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Double outlet right ventricle, Coarctation of aorta, Tran... OMIM:217095
Laryngotracheoesophageal Cleft
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Coug... ORPHA:2004
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Crazy paving pattern, C... ORPHA:264675
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Uruguay Faciocardiomusculoskeletal Syndrome
Ventricular hypertrophy, Wide nose, Posteriorly rotated ears, Left atrial enlargement, Cardiomega... OMIM:300280
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Familial Median Cleft Of The Upper And Lower Lips
Irregular dentition, Median cleft lip, Cleft upper lip, Diastema, Abnormal mandible morphology, A... ORPHA:401942
Meckel Syndrome, Type 1
Occipital encephalocele, Adrenal hypoplasia, Micrognathia, Asplenia, Lobulated tongue, Agenesis o... OMIM:249000
Pleural Mesothelioma
Respiratory distress, Abnormal pleura morphology, Dyspnea, Abnormal lung morphology, Abnormal res... ORPHA:50251
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Broad skull, Intracranial hemorrhage, Short philtrum, Atrial septal defect, Micropenis, Absent ga... ORPHA:163979
Pneumocystosis
Respiratory failure requiring assisted ventilation, Multiple pulmonary cysts, Nonproductive cough... ORPHA:723
Kagami-Ogata Syndrome
Omphalocele, Hepatomegaly, Frontal bossing, Inguinal hernia, Ventricular septal defect, Diastasis... OMIM:608149
Heterotaxy, Visceral, 1, X-Linked
Cardiomegaly, Aqueductal stenosis, Asplenia, Dextrotransposition of the great arteries, Atrial se... OMIM:306955
C Syndrome
Omphalocele, Hepatomegaly, Ventricular septal defect, Anteverted nares, Accessory oral frenulum, ... OMIM:211750
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Autism Spectrum Disorder Due To Auts2 Deficiency
Prominent nasal tip, Inguinal hernia, Anteverted nares, Micrognathia, Microcephaly, Cryptorchidis... ORPHA:352490
Microphthalmia, Syndromic 13
Microcephaly, Microcornea, Chorioretinal coloboma, Microphthalmia, Iris coloboma, Widely-spaced i... OMIM:300915
Cardiomyopathy, Dilated, 1R
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:613424
Auriculocondylar Syndrome 2A
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Mic... OMIM:614669
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Acute infectio... ORPHA:140896
Frontonasal Dysplasia 1
Pericallosal lipoma, Cataract, Median cleft lip, Hypoplasia of the maxilla, Hypoplastic frontal s... OMIM:136760
C1Q Deficiency 2
Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory... OMIM:620321
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia, Abnormal spaced incisors, Anteverted nares, Prominent nasal bridge, Broad nasal tip... ORPHA:411986
Adams-Oliver Syndrome 6
Ventricular septal defect, Splenomegaly, Renal hypoplasia, Truncus arteriosus, Calvarial skull de... OMIM:616589
Baraitser-Winter Syndrome 1
Thin upper lip vermilion, Cleft upper lip, Pachygyria, Microcephaly, Cryptorchidism, Orofacial cl... OMIM:243310
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Ventricular septal defect, Hearing impairment, Micrognathia, Microcephaly, Nephrogenic diabetes i... OMIM:208085
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, Orofacial cleft, Absent nares, Holoprosenc... ORPHA:2166
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Bilateral cleft lip and palate, Chorioretinal coloboma, Microphthalmia... ORPHA:1473
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Tented upper lip vermilion, Hypertrophy of the urinary bladder, Large fleshy ears, High palate, A... ORPHA:280633
Paget Disease Of Bone 6
Left ventricular hypertrophy, Nephrocalcinosis, Coronary artery atherosclerosis OMIM:616833
Ane Syndrome
Decreased serum testosterone concentration, Decreased serum insulin-like growth factor 1, Multipl... ORPHA:157954
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Mandibular prognathia, Tented upper lip vermilion, Bicuspid aortic valve, Cerebellar vermis hypop... OMIM:619720
Distal Triplication 15Q
Micrognathia, Flexion contracture, High palate, Hernia, Atrial septal defect, Dandy-Walker malfor... ORPHA:314588
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Micrognathia, High palate, Atrial septal defect, Vesicoureteral ... ORPHA:2745
Iniencephaly
Encephalocele, Omphalocele, Renal agenesis, Congenital diaphragmatic hernia, Spina bifida, Abnorm... ORPHA:63259
Short-Rib Thoracic Dysplasia 12
Lobulated tongue, Holoprosencephaly, Patent foramen ovale, Hepatomegaly, Hamartoma of tongue, Pat... OMIM:269860
Lacrimal Duct Defect
Dacryocystocele, Dacryocystitis, Conjunctivitis, Lacrimal duct atresia OMIM:149700
Pulmonary Venoocclusive Disease 2, Autosomal Recessive
Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl... OMIM:234810
Bronchogenic Cyst
Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog... ORPHA:2357
Lethal Congenital Contracture Syndrome 10
Omphalocele, Torticollis, Overriding aorta, Ventricular septal defect, Cardiomegaly, Micrognathia... OMIM:617022
Isolated Exencephaly
Anterior pituitary hypoplasia, Maternal diabetes, Abnormal facial skeleton morphology, Holoprosen... ORPHA:563612
Meckel Syndrome, Type 5
Occipital encephalocele, Cleft upper lip, Anencephaly, Cleft palate, Renal cyst, Bile duct prolif... OMIM:611561
2p15-16.1 microdeletion syndrome
Hydronephrosis, Optic disc hypoplasia, Camptodactyly of finger, Microcephaly DECIPHER:70
Tetrasomy 15Q26
Microretrognathia, Patent ductus arteriosus, Hypoplastic aortic arch, Hydrocephalus, Cupped ear, ... OMIM:614846
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Hepatomegaly, Ventricular septal defect, Proteinuria, Microcephaly, Nephrogenic diabetes insipidu... OMIM:613404
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Peripheral pulmonary artery stenosis, Accessory spleen, Ingu... OMIM:613177
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Tetraamelia-Multiple Malformations Syndrome
Abnormally ossified vertebrae, Cataract, Septo-optic dysplasia, Micrognathia, Cryptorchidism, Hyd... ORPHA:3301
Acromelic Frontonasal Dysplasia
Encephalocele, Median cleft lip, Anterior pituitary hypoplasia, Cryptorchidism, Meningocele, Wide... ORPHA:1827
Meckel Syndrome
Ureteral duplication, Anophthalmia, Micrognathia, Asplenia, Depressed nasal ridge, Urethral atres... ORPHA:564
Congenital Heart Defects, Multiple Types, 9
Mitral atresia, Aortopulmonary collateral arteries, Arteria lusoria, Double outlet right ventricl... OMIM:620294
Solitary Median Maxillary Central Incisor
Anophthalmia, Decreased response to growth hormone stimulation test, Cleft upper lip, Microcephal... OMIM:147250
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Joint laxity, Optic nerve hypoplasia, Micrognathia, Partial agenesis of the corpus callosum, Simp... ORPHA:300570
Lethal Hemolytic Anemia-Genital Anomalies Syndrome
Hypoplasia of penis, Hypospadias, Microcephaly, Micrognathia, Splenomegaly, Renal hypoplasia/apla... ORPHA:1046
Tetraploidy
Microcephaly, Micrognathia, Renal hypoplasia/aplasia, Cleft palate, Hydronephrosis, Aplasia/Hypop... ORPHA:3305
Bardet-Biedl Syndrome 19
Renal insufficiency, Ventricular septal defect, Partial atrioventricular canal defect, Patent duc... OMIM:615996
Heterotaxy, Visceral, 8, Autosomal
Atrial situs inversus, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Aortopulm... OMIM:617205
Walker-Warburg Syndrome
Cataract, Corneal opacity, Chorioretinal dysplasia, Anophthalmia, Absent septum pellucidum, Abnor... ORPHA:899
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Cerebellar vermis hypoplasia, Facial palsy, Microcephaly, Cryptorchidism, Flexion contracture, Mi... OMIM:613156
Robinow Syndrome, Autosomal Recessive 2
Ventral hernia, Frontal bossing, Omphalocele, Bicuspid aortic valve, Cleft soft palate, Anteverte... OMIM:618529
Warburg Micro Syndrome 1
Cerebellar vermis hypoplasia, Anteverted nares, Micrognathia, Microcephaly, Cryptorchidism, Peris... OMIM:600118
Microphthalmia, Isolated, With Coloboma 3
Microphthalmia, Cataract, Iris coloboma OMIM:610092
Microphthalmia, Syndromic 3
Vertebral fusion, Optic nerve aplasia, Cataract, Anophthalmia, Optic nerve hypoplasia, Sclerocorn... OMIM:206900
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Micrognathia, Microcephaly, Broad nasal tip, Ectopic kidney, Cleft palate, Abnor... OMIM:239800
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Donnai-Barrow Syndrome
Omphalocele, Ventricular septal defect, Depressed nasal bridge, Congenital diaphragmatic hernia, ... OMIM:222448
Chromosome 10Q26 Deletion Syndrome
Micrognathia, Prominent nose, Protruding ear, High palate, Vesicoureteral reflux, Atrial septal d... OMIM:609625
Alazami-Yuan Syndrome
Thin upper lip vermilion, Dental crowding, Prominent nasal bridge, Microcephaly, Prominent nose, ... OMIM:617126
Congenital Heart Defect-Round Face-Developmental Delay Syndrome
Anteverted nares, Hypospadias, Narrow mouth, Depressed nasal ridge, Abnormal oral cavity morpholo... ORPHA:1355
Perching Syndrome
Respiratory distress, Cyanosis OMIM:617055
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Congenital Disorder Of Glycosylation, Type Iig
Cerebellar vermis hypoplasia, Micrognathia, Glossoptosis, High palate, Conductive hearing impairm... OMIM:611209
22Q11.2 Deletion Syndrome
Micrognathia, Abnormal aortic arch morphology, Short philtrum, Hypoplasia of the thymus, Atrial s... ORPHA:567
Donnai-Barrow Syndrome
Omphalocele, Depressed nasal bridge, Ventricular septal defect, Congenital diaphragmatic hernia, ... ORPHA:2143
Microhydranencephaly
Skeletal muscle atrophy, Multiple joint contractures, Prominent nasal bridge, Microcephaly, Macro... OMIM:605013
Microphthalmia, Isolated, With Coloboma 7
Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma OMIM:614497
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Frontal bossing, Inguinal hernia, Dental crowding, Facial hypotonia, Brachycephaly, Cerebral atro... OMIM:615539
Hamel Cerebro-Palato-Cardiac Syndrome
Micrognathia, Microcephaly, Bulbous nose, Cupped ear, Wide nasal bridge, Cleft palate, Narrow mou... ORPHA:93946
Renal-Hepatic-Pancreatic Dysplasia 2
Hepatomegaly, Truncus arteriosus, Hepatic cysts, Situs inversus totalis, Asplenia, Aortic valve s... OMIM:615415
Septo-Optic Dysplasia Spectrum
Septo-optic dysplasia, Diabetes insipidus, Absent septum pellucidum, Optic nerve hypoplasia, Ante... ORPHA:3157
Hydrolethalus Syndrome 1
Micrognathia, Severe hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Acces... OMIM:236680
Heart Defects, Congenital, And Other Congenital Anomalies
Ureteral duplication, Congenital diaphragmatic hernia, Atrial septal defect, Pancreatic hypoplasi... OMIM:600001
Kallmann Syndrome-Heart Disease Syndrome
Short lingual frenulum, Hypogonadotropic hypogonadism, Partial anosmia, Anomalous origin of left ... ORPHA:2326
Feingold Syndrome Type 1
Renal dysplasia, Renal insufficiency, Tricuspid stenosis, Abnormality of the kidney, Micrognathia... ORPHA:391641
Suleiman-El-Hattab Syndrome
Microretrognathia, Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Microcep... OMIM:618950
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:616081
Charge Syndrome
Anophthalmia, Aqueductal stenosis, Hypoplasia of the semicircular canal, Holoprosencephaly, Aplas... ORPHA:138
Holoprosencephaly 2
Aplasia of the nasal bone, Adrenal hypoplasia, Alobar holoprosencephaly, Holoprosencephaly, Agene... OMIM:157170
Meacham Syndrome
Bicuspid aortic valve, Scimitar anomaly, Atrial septal defect, Diaphragmatic eventration, Accesso... OMIM:608978
Waardenburg Syndrome Type 3
Tracheomalacia, Atelectasis, Acrocyanosis ORPHA:896
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Agenesis of cerebellar vermis, Type II lissencephaly, Hypoplasia of the pons, Hydrocephalus, Simp... OMIM:613153
Holoprosencephaly
Hypoplasia of penis, Anophthalmia, Flat occiput, Congenital diaphragmatic hernia, Abnormality of ... ORPHA:2162
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Camptodactyly of finger, Dysgenesis of the basal ganglia, Hypoplastic anterior commissure, Wrist ... OMIM:600638
Acrocardiofacial Syndrome
Hypoplasia of penis, Hyperthyroidism, Ventricular septal defect, Mitral stenosis, Camptodactyly o... ORPHA:2008
Cog7-Cdg
Hepatomegaly, Abnormality of the kidney, Micrognathia, Hepatosplenomegaly, Abnormal heart morphol... ORPHA:79333
8Q12 Microduplication Syndrome
Ventricular septal defect, Narrow mouth, Sensorineural hearing impairment, Brachycephaly, Wide na... ORPHA:228399
Combined Pituitary Hormone Deficiencies, Genetic Forms
Osteopenia, Septo-optic dysplasia, Ectopic posterior pituitary, Decreased response to growth horm... ORPHA:95494
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Facial palsy, Interrupted aortic arch, Coarctation of aorta OMIM:107550
Holoprosencephaly 7
Alobar holoprosencephaly, Partial agenesis of the corpus callosum, Holoprosencephaly, Agenesis of... OMIM:610828
Cerebrooculonasal Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Anophthalmia, Brachycephaly, Abnormal tra... ORPHA:66625
Chromosome 4Q21 Deletion Syndrome
Frontal bossing, Dolichocephaly, Narrow mouth, Sensorineural hearing impairment, Downturned corne... OMIM:613509
Right Atrial Isomerism
Right atrial isomerism, Abdominal situs ambiguus, Ventricular septal defect, Dextrocardia, Aortop... OMIM:208530
Digeorge Syndrome
Micrognathia, High, narrow palate, Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia... OMIM:188400
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Miller-Dieker Lissencephaly Syndrome
Micrognathia, Cavum septum pellucidum, Pachygyria, Thick upper lip vermilion, Pelvic kidney, Ante... OMIM:247200
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Distal Duplication 6P
Frontal bossing, Prominent nasal bridge, Micrognathia, Aplasia/Hypoplasia of the earlobes, Renal ... ORPHA:1745
Trigonocephaly 1
Omphalocele, Craniosynostosis, Microcephaly, High, narrow palate, Long penis, Wide nasal bridge, ... OMIM:190440
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Atelectasis, Neonatal death, Death in infancy OMIM:300219
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Omphalocele, Bilateral cleft palate, Ventricular septal defect, Absent septum pellucidum, Bilater... OMIM:601357
Frontorhiny
Encephalocele, Pericallosal lipoma, Cataract, Camptodactyly of finger, Hypoplasia of the maxilla,... ORPHA:391474
Arthrogryposis, Distal, Type 1C
Pursed lips, Hip contracture, Shoulder flexion contracture, Camptodactyly of finger, Cleft lip, C... OMIM:619110
Stromme Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Micrognathia, Microcephaly, Hydrocephalus, Cleft ... OMIM:243605
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bronchiolitis, Atelectasis, Pulmonary fibrosis, Exertional dyspnea ORPHA:254361
Cardiomyopathy, Familial Restrictive, 1
Left ventricular hypertrophy, Restrictive cardiomyopathy, Left atrial enlargement OMIM:115210
Xk Aprosencephaly Syndrome
Ventricular septal defect, Microcephaly, Abnormal nostril morphology, Narrow mouth, Atrial septal... ORPHA:3469
6P22 Microdeletion Syndrome
Patent ductus arteriosus, Hydrocephalus, Low-set ears, Hernia, Overfolded helix, Hydronephrosis, ... ORPHA:251046
Autoimmune Pulmonary Alveolar Proteinosis
Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox... ORPHA:747
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Centrally nucle... ORPHA:169186
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Micrognathia, Vesicoureteral reflux, Exaggerated cupid's bow, Hypospadias, Cryptorchidism, Patent... OMIM:618659
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris coloboma OMIM:610023
Interstitial Lung Disease 2
Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu... OMIM:178500
Neural Tube Defects, Susceptibility To
Urinary incontinence, Hydrocephalus, Myelomeningocele, Anencephaly, Multiple lipomas, Lipoma, Spi... OMIM:182940
Cerebrocostomandibular Syndrome
Multicystic kidney dysplasia, Cerebral calcification, Ventricular septal defect, Spina bifida, Mi... ORPHA:1393
Distal 22Q11.2 Microdeletion Syndrome
High, narrow palate, Atrial septal defect, Branchial fistula, Narrow mouth, Truncus arteriosus, S... ORPHA:261330
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Apnea OMIM:610992
Acalvaria
Omphalocele, Spina bifida, Hydrocephalus, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of ... ORPHA:945
Idiopathic Pulmonary Fibrosis
Crackles, Ground-glass opacification, Bronchiectasis, Abnormal pulmonary interstitial morphology,... ORPHA:2032
Robinow Syndrome, Autosomal Dominant 3
Hypoplastic right heart, Micrognathia, Downturned corners of mouth, Pulmonary artery atresia, Ves... OMIM:616894
Congenital Myopathy 16
Scapular winging, Micrognathia, Flexion contracture, Prominent nasolabial fold, High palate, Narr... OMIM:618524
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Microcephaly, Cryptorchidism, Cleft palate, Orofacial cle... OMIM:601349
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Depressed nasal bridge, Congenital diaphragmatic hernia, Hamartoma ... OMIM:616546
Pulmonary Capillary Hemangiomatosis
Pulmonary edema, Cyanosis, Diffuse alveolar hemorrhage, Ground-glass opacification, Pulmonary cap... ORPHA:199241
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Mmep Syndrome
Mandibular prognathia, Median cleft lip, Microcephaly, Cryptorchidism, Orofacial cleft, Microphth... ORPHA:3434
Classic Multiminicore Myopathy
Mandibular prognathia, Microretrognathia, Absent muscle fiber merosin, Multiple joint contracture... ORPHA:324604
Radioulnar Synostosis-Developmental Delay-Hypotonia Syndrome
Multicystic kidney dysplasia, Prominent nasal bridge, Abnormality of the dentition, Carious teeth... ORPHA:3270
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Cataract, Microcephaly, Lateral ventricle dilatation... ORPHA:79326
Cofs Syndrome
Death in infancy, Cataract, Cerebral calcification, Camptodactyly of finger, Joint stiffness, Mic... ORPHA:1466
Distal Duplication 15Q
Omphalocele, Congenital muscular torticollis, Camptodactyly of finger, Prominent nasal bridge, Mi... ORPHA:1707
Biemond Syndrome Ii
Abnormality of the endocrine system, Hydrocephalus, Iris coloboma OMIM:210350
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Abnormal macrophage morphology, Achilles tendon ... ORPHA:353
Otopalatodigital Syndrome Type 2
Micrognathia, Glossoptosis, Oligodontia, Anodontia, Encephalocele, Depressed nasal bridge, Hyposp... ORPHA:90652
Frontoocular Syndrome
Posteriorly rotated ears, Prominent nasal bridge, Trigonocephaly, Micrognathia, Narrow philtrum, ... OMIM:605321
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Feingold Syndrome 1
Micrognathia, Asplenia, High palate, Accessory spleen, Anteverted nares, Patent ductus arteriosus... OMIM:164280
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Micrognathia, Microcephaly, Protruding ear, Hypoplasia of the corpus cal... ORPHA:1495
Humero-Radial Synostosis
Tarsal synostosis, Microcephaly, Meningocele, Limitation of joint mobility, Chorioretinal colobom... ORPHA:3265
Isotretinoin-Like Syndrome
Bicuspid aortic valve, Micrognathia, Abnormal aortic arch morphology, Conotruncal defect, Anotia,... ORPHA:2306
Scimitar Syndrome
Hypoplasia of the diaphragm, Pulmonary artery hypoplasia, Hernia, Atrial septal defect, Single ve... ORPHA:185
Butyrylcholinesterase Deficiency
Respiratory failure requiring assisted ventilation, Respiratory failure ORPHA:132
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Sclerocornea, Cryptorchidism, Hydrocephalus, Holoprosencephaly, Microphthalmia, Age... ORPHA:77298
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cataract, Micrognathia, Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral p... OMIM:616171
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Posteriorly rotated ears, Micrognathia, Cryptorchidism... OMIM:618578
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce... ORPHA:266
Kahrizi Syndrome
Cataract, Elbow contracture, Knee flexion contracture, Thick vermilion border, Iris coloboma OMIM:612713
Williams-Beuren Region Duplication Syndrome
Cerebellar vermis hypoplasia, Decreased response to growth hormone stimulation test, Unilateral r... OMIM:609757
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Hypoplasia of the iris, Hernia, Multicystic kidney dysplasia, Ab... ORPHA:2092
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Pneumothorax, Chronic pulmonary obstruction, Bronchiecta... ORPHA:411703
Congenital Fibrinogen Deficiency
Hemorrhagic ovarian cyst, Splenic rupture, Gingival bleeding, Left ventricular hypertrophy, Micro... ORPHA:335
Treacher-Collins Syndrome
Hypoplasia of penis, Micrognathia, Hypoplasia of the maxilla, Brachycephaly, Glossoptosis, High p... ORPHA:861
Rubinstein-Taybi Syndrome 1
Dental crowding, Premature thelarche, Micrognathia, Hypoplasia of the maxilla, High, narrow palat... OMIM:180849
Marden-Walker Syndrome
Decreased muscle mass, Micrognathia, High, narrow palate, Congenital contracture, Hypoplasia of t... OMIM:248700
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten... ORPHA:2414
Tonne-Kalscheuer Syndrome
Decreased testicular size, Hypospadias, Prominent nasal bridge, Congenital diaphragmatic hernia, ... OMIM:300978
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia
Osteopenia, Hypogonadotropic hypogonadism, Cleft upper lip, Cryptorchidism, Cleft palate, Tooth a... OMIM:147950
Microphthalmia With Limb Anomalies
Frontal bossing, Anophthalmia, Depressed nasal bridge, Posteriorly rotated ears, Unilateral crypt... OMIM:206920
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Cleft upper lip, Cleft palate, Microphthalmia, Agenesis of corpus callosum OMIM:614402
Terminal Osseous Dysplasia
Multiple joint contractures, Camptodactyly of finger, Accessory oral frenulum, Abnormal hand bone... OMIM:300244
Holoprosencephaly 1
Diabetes insipidus, Proboscis, Alobar holoprosencephaly, Microcephaly, Adrenal hypoplasia, Single... OMIM:236100
Muscle Filaminopathy
Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m... ORPHA:171445
Lenz-Majewski Hyperostotic Dwarfism
Joint laxity, Hyperextensibility of the finger joints, Mandibular prognathia, Anterior pituitary ... OMIM:151050
Alpha-1-Antitrypsin Deficiency
Chronic bronchitis, Dyspnea, Panacinar emphysema, Chronic pulmonary obstruction, Wheezing, Bronch... OMIM:613490
Cleft Palate-Lateral Synechia Syndrome
Micrognathia, Cleft palate, Everted lower lip vermilion, Narrow mouth, Oral synechia ORPHA:2016
Split-Hand/Foot Malformation 3
Microretrognathia, Abnormal pinna morphology, Hypoplasia of the maxilla, Narrow mouth, Renal hypo... OMIM:246560
Cantu Syndrome
Bicuspid aortic valve, Anteverted nares, Depressed nasal bridge, Cardiomegaly, Pericardial effusi... OMIM:239850
Left Ventricular Noncompaction 1
Noncompaction cardiomyopathy, Ventricular septal defect, Left ventricular noncompaction cardiomyo... OMIM:604169
Takenouchi-Kosaki Syndrome
Downturned corners of mouth, Short philtrum, Widely spaced teeth, Abnormal periventricular white ... OMIM:616737
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Low-set, posteriorly rotated ears, Thin vermilion border, Abnormal cardiac septum morphology, Nar... ORPHA:2370
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Camptodactyly of finger, Spina bifida, Micrognathia, Hydrocephalus, Bi... ORPHA:2839
Macdermot-Winter Syndrome
Posteriorly rotated ears, Camptodactyly of finger, Microcephaly, Macrotia, Hydronephrosis OMIM:247990
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Secundum atrial septal defect, Oral ulcer, Leukopenia, High palate, Hypoplasia of the thymus, Neu... OMIM:612541
Hypoglossia With Situs Inversus
Micrognathia, Situs inversus totalis, Asplenia, High palate, Hypodontia, Low-set ears, Narrow mou... OMIM:612776
Alg9-Cdg
Micrognathia, Brachycephaly, Right ventricular dilatation, Large fleshy ears, Abnormal left ventr... ORPHA:79328
Zaki Syndrome
Wide nose, Cerebellar vermis hypoplasia, Anteverted nares, Renal agenesis, Congenital diaphragmat... OMIM:619648
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Dental crowding, Cardiomegaly, Prominent nose, High, narrow palate, Pineal cyst, Short philtrum, ... OMIM:300967
Joubert Syndrome 14
Encephalocele, Tented upper lip vermilion, Ventricular septal defect, Cerebellar vermis hypoplasi... OMIM:614424
Periventricular Nodular Heterotopia 7
Microretrognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul... OMIM:617201
20P12.3 Microdeletion Syndrome
Depressed nasal bridge, Thickened helices, Hypoplasia of the maxilla, Wide nasal bridge, Microtia... ORPHA:261295
Microgastria-Limb Reduction Defect Syndrome
Congenital muscular torticollis, Hepatomegaly, Anophthalmia, Frontal bossing, Absent septum pellu... ORPHA:2538
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Micrognathia, Renal hypoplasia/aplasia, Abnormality... ORPHA:1834
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Abnormal pulmonary ... OMIM:620233
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Prominent nose, Renal cyst, Lobulated tongue, Unicoronal synostosis, Dandy-Walker malformation, M... OMIM:616300
Chromosome 1P36 Deletion Syndrome, Proximal
Bicuspid aortic valve, Micrognathia, High palate, Atrial septal defect, Parietal bossing, Patent ... OMIM:619343
Cerebrooculofacioskeletal Syndrome 1
Diffuse cerebral atrophy, Micrognathia, Basal ganglia calcification, Flexion contracture, Knee fl... OMIM:214150
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Hypoplasia of penis, Ap... ORPHA:990
Bresek Syndrome
Decreased testicular size, Optic nerve hypoplasia, Microcephaly, Cryptorchidism, Hydrocephalus, C... ORPHA:85284
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Attached earlobe, Scapular winging, Low-set, posteriorly rotated ears, Ant... ORPHA:1327
Prader-Willi Syndrome Due To Translocation
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Micrognathi... ORPHA:177907
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Micrognathia, Downturned corners of mouth, Choanal stenosis, Atrial septal defect... OMIM:620186
Pterygium Of Conjunctiva And Cornea
Abnormal conjunctiva morphology, Pterygium OMIM:178000
Aredyld Syndrome
Mandibular prognathia, Hepatomegaly, Craniofacial hyperostosis, Low-set, posteriorly rotated ears... ORPHA:1133
Thomas Syndrome
Multicystic kidney dysplasia, Cleft upper lip, Renal hypoplasia/aplasia, Cleft palate, Hypoplasti... ORPHA:3316
3C Syndrome
Hypoplasia of penis, Adrenal hypoplasia, Micrognathia, High, narrow palate, Orofacial cleft, Abno... ORPHA:7
Lambotte Syndrome
Ventricular septal defect, Microcephaly, Macrotia, Atresia of the external auditory canal, Narrow... OMIM:245552
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Abnormality of the nose, Whistling appearance, P... ORPHA:1150
Monosomy 18Q
Mandibular prognathia, Prominent nose, Secundum atrial septal defect, Bilateral cryptorchidism, D... ORPHA:1600
Chromosome 14Q11-Q22 Deletion Syndrome
Unilateral cryptorchidism, Anterior pituitary hypoplasia, Micrognathia, Microcephaly, Narrow mout... OMIM:613457
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Cataract, Ectopia lentis, Abnormality of the dentition, Submucous clef... ORPHA:2712
Teebi-Shaltout Syndrome
High, narrow palate, Oligodontia, Small earlobe, Prominent palatine ridges, Ureteral stenosis, Wi... OMIM:272950
Sweeney-Cox Syndrome
Flat occiput, Uplifted earlobe, Micrognathia, Asplenia, Bilateral cryptorchidism, Brachycephaly, ... OMIM:617746
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Bicuspid aortic valve, Congenital diaphragmatic hernia, Cardiomegaly, Micrognathia, Abnormally la... OMIM:245600
Mosaic Trisomy 14
Low-set, posteriorly rotated ears, Frontal bossing, Hypoplasia of penis, Anteverted nares, Campto... ORPHA:1703
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Micropen... OMIM:618280
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Irregular dentition, Pericardial lymphangiectasia, Depressed nasal bridge, Narrow mouth, Pulmonar... OMIM:616006
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Diabetes mellitus, Ragged-red muscle fibers, Stroke-like episode, Myopathy, Bilateral sensorineur... OMIM:540000
You-Hoover-Fong Syndrome
Accessory oral frenulum, Microcephaly, Cleft palate, Coarctation of aorta, Vascular ring, Double ... OMIM:616954
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Ventricular septal defect, Dextrocardia, Thoracic aortic aneurysm, Posteriorly rotated ears, Aspl... OMIM:619657
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Thin upper lip vermilion, Microcephaly, Micrognathia, Prominent nose, Broad nasal tip, Abnormal c... OMIM:617755
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Flat occiput, High, narrow palate, Narrow palate, Secondary microcephaly, Darwin tubercle of heli... OMIM:612949
Cardiac Diverticulum
Bicuspid aortic valve, Bicuspid pulmonary valve, Pulmonary artery hypoplasia, Atrial septal defec... ORPHA:1686
Cataract-Microcornea Syndrome
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma ORPHA:1377
Intellectual Developmental Disorder, Autosomal Dominant 43
Attached earlobe, Thin upper lip vermilion, Anteverted nares, Prominent nasal bridge, Microcephal... OMIM:616977
Diets-Jongmans Syndrome
Thin upper lip vermilion, Inguinal hernia, Ventricular septal defect, Hypospadias, Congenital dia... OMIM:618846
Agnathia-Otocephaly Complex
Wide nose, Micrognathia, Secundum atrial septal defect, Situs inversus totalis, Conductive hearin... OMIM:202650
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Recurrent upper respiratory tract infections, Restrictive ventilatory defect, Respiratory failure... OMIM:620296
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Bicuspid aortic valve, Br... ORPHA:261494
Microphthalmia, Isolated, With Cataract 1
Microphthalmia, Cataract OMIM:156850
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Desmosterolosis
Micrognathia, Pachygyria, Agenesis of corpus callosum, Bifid uvula, Low-set, posteriorly rotated ... ORPHA:35107
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Ectopic kidney, Conical incisor, Oligodontia, Atrial septal defect, Conductive hearing impairment... OMIM:235510
2Q32Q33 Microdeletion Syndrome
Decreased testicular size, Dental crowding, Anteverted nares, Prominent nasal bridge, Micrognathi... ORPHA:251019
Webb-Dattani Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cryptorchid... OMIM:615926
Microform Holoprosencephaly
Tented upper lip vermilion, Maternal diabetes, Microcephaly, Hypothyroidism, Panhypopituitarism, ... ORPHA:280200
Renal Tubular Dysgenesis
Microcephaly, Tetralogy of Fallot, Proximal tubulopathy, Multiple renal cysts, Nephropathy, Renot... ORPHA:3033
Craniotelencephalic Dysplasia
Septo-optic dysplasia, Craniosynostosis, Microcephaly, Hydrocephalus, Frontal encephalocele, Liss... ORPHA:1528
Testicular Anomalies With Or Without Congenital Heart Disease
Inguinal hernia, Corpus cavernosum hypoplasia, Abnormality of thyroid physiology, Cryptorchidism,... OMIM:615542
Cardiomyopathy, Familial Hypertrophic, 25
Left ventricular hypertrophy, Hypertrophic cardiomyopathy OMIM:607487
Hypothyroidism, Congenital, Nongoitrous, 4
Omphalocele, Decreased thyroid-stimulating hormone level, Depressed nasal bridge, Macroglossia, D... OMIM:275100
Developmental And Epileptic Encephalopathy 70
Microcephaly, Cryptorchidism, Flexion contracture, Low-set ears, Narrow mouth, Cerebral cortical ... OMIM:618298
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Quadriceps muscle weakness, Dilated cardiomyopathy, Elbow flexion contracture, Calf muscle hypert... ORPHA:206546
Non-Acquired Combined Pituitary Hormone Deficiency-Sensorineural Hearing Loss-Spine Abnormalities Syndrome
Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Adrenocorti... ORPHA:231720
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Myofiber disarray, Dilated cardiomyopathy, Cardiomyocyte hypertrophy, Left ventricular noncompact... OMIM:612158
Omphalocele-Cleft Palate Syndrome, Lethal
Omphalocele, Hydrocephalus, Bifid uvula, Cleft palate OMIM:258320
Gaucher Disease Type 2
Respiratory distress, Recurrent respiratory infections, Abnormal pattern of respiration, Cough ORPHA:77260
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Ground-glass opaci... OMIM:300770
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Absent outer dynein arms, Atelectasis, Bronchiectasis, Immotile cilia... OMIM:244400
Chromosome 6Pter-P24 Deletion Syndrome
Tented upper lip vermilion, Dental crowding, Brachycephaly, High palate, Atrial septal defect, Ag... OMIM:612582
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Hydrocephalus, Orofacial cleft, Developmental cataract, Coloboma, Microp... ORPHA:324416
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Micrognathia, Partial agenesis of the corpus callosum, Craniofacial osteoscleros... OMIM:300373
Abruzzo-Erickson Syndrome
Cryptorchidism, Cleft palate, Microcornea, Coloboma, Radioulnar synostosis, Chorioretinal colobom... ORPHA:921
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Anophthalmia, Diabetes insipidus, Anterior pituitary hypoplasia, Adrenal hyp... ORPHA:264200
Hydrolethalus Syndrome 2
Micrognathia, Hydrocephalus, Anencephaly, Cleft palate, Agenesis of corpus callosum OMIM:614120
Anophthalmia Plus Syndrome
Anophthalmia, Spina bifida, Non-midline cleft lip, Cleft palate, Bilateral cleft lip and palate, ... ORPHA:1104
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Mandibular prognathia, Bicuspid aortic valve, Micrognathia, Atrioventricular canal defect, Pelvic... ORPHA:508498
Nephronophthisis 16
Renal insufficiency, Situs inversus totalis, Patent ductus arteriosus, Stage 5 chronic kidney dis... OMIM:615382
Frontofacionasal Dysplasia
Encephalocele, Cataract, Brushfield spots, Non-midline cleft lip, Cleft palate, Microcornea, Hypo... ORPHA:1791
Microphthalmia, Syndromic 2
Anophthalmia, Anteverted ears, Flexion contracture, Oligodontia, Fused teeth, Atrial septal defec... OMIM:300166
Galloway-Mowat Syndrome 3
Diffuse mesangial sclerosis, Micrognathia, Simplified gyral pattern, High palate, Pachygyria, Hia... OMIM:617729
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Transient ischemic attack, Coronary sinus enlargement, Partial atrioventri... ORPHA:1330
Braddock-Carey Syndrome 1
Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Anteverted nares,... OMIM:619980
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Ureteral duplication, Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hern... ORPHA:2255
Cousin Syndrome
Frontal bossing, Posteriorly rotated ears, Micrognathia, Hydrocephalus, Microtia, first degree, A... OMIM:260660
Baraitser-Winter Syndrome 2
Thin upper lip vermilion, Pachygyria, Orofacial cleft, Wide mouth, Coloboma, Lissencephaly, Secon... OMIM:614583
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Chronic bronchitis, Recurrent pn... OMIM:608647
Cataract 21, Multiple Types
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Macular hypoplasi... OMIM:610202
Alg3-Cdg
Cerebral white matter atrophy, Abnormal pinna morphology, Lipodystrophy, Microcephaly, Hypoplasia... ORPHA:79321
Flat Face-Microstomia-Ear Anomaly Syndrome
Low-set, posteriorly rotated ears, Inguinal hernia, Abnormal oral mucosa morphology, Camptodactyl... ORPHA:1968
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Microphthalmia, Chorioretinal dysplasia, Microcephaly OMIM:616335
Primary Pulmonary Hypoplasia
Recurrent respiratory infections, Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Pneumot... ORPHA:2257
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Leukopenia, Pulmonary artery atresia, Vesicoureteral reflux, Micropenis, Agenesis of corpus callo... OMIM:301056
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Mandibular prognathia, Contracture of the proximal interphalangeal joint of the 2nd finger, Denta... OMIM:300998
Isolated Growth Hormone Deficiency, Type Iv
Impaired growth-hormone response to insulin stimulation test, Decreased serum insulin-like growth... OMIM:618157
Thakker-Donnai Syndrome
Communicating hydrocephalus, Ventricular septal defect, Anteverted nares, Congenital diaphragmati... ORPHA:1780
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Right ventricular di... OMIM:253700
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the musculature, Micrognathia, Microcephaly, Hydrocephalus, Cleft palate, Hypoplasi... OMIM:225790
X-Linked Intellectual Disability, Schimke Type
Narrow nasal bridge, Hip contracture, Ankle flexion contracture, Elbow flexion contracture, Knee ... ORPHA:85285
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Exaggerated cupid's bow, Ventricular septal defect, Anteverted nares, Microcephaly, Posteriorly r... OMIM:618506
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Flexion contracture, Ragged-red muscle fibers, Orofacial cleft, Patent f... ORPHA:17
Usher Syndrome, Type 1M
Left ventricular hypertrophy, Prelingual sensorineural hearing impairment OMIM:618632
Congenital Diaphragmatic Hernia
Hypoxemia, Pulmonary hypoplasia, Respiratory distress ORPHA:2140
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Left ventricular noncompaction, Dilated cardiomyopathy, Endocardial fibrosis, Left ventricular hy... OMIM:601493
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Downturned corners of mouth, High palate, Atrial septal defect, Dandy-Walker malformation, Anteve... OMIM:220500
3Mc Syndrome 1
Omphalocele, Ventricular septal defect, Dental crowding, Diastasis recti, Cleft upper lip, Microc... OMIM:257920
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Cryptorchidism, Patent ductus arteriosus, Thick lower lip vermilion, C... OMIM:619797
Choanal Atresia
Respiratory distress, Recurrent respiratory infections, Cyanosis, Upper airway obstruction, Trach... ORPHA:137914
Auriculocondylar Syndrome 1
Overfolding of the superior helices, Dental crowding, Posteriorly rotated ears, Micrognathia, Cup... OMIM:602483
Fryns Microphthalmia Syndrome
Anophthalmia, Bilateral cleft lip and palate, Neural tube defect, Microphthalmia, Macrotia OMIM:600776
Encephalocraniocutaneous Lipomatosis
Ventricular septal defect, Subcutaneous lipoma, Cryptorchidism, Cortical dysplasia, Porencephalic... OMIM:613001
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea, Pulmonary hypoplasia OMIM:615228
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Uplifted earlobe, High palate, Short philtrum, Atrial septal defect, ... OMIM:616449
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Microretrognathia, Thin upper lip vermilion, Low-set, posteriorly rotated ears, Ventricular septa... ORPHA:457193
Pagod Syndrome
Encephalocele, Omphalocele, Multicystic kidney dysplasia, Congenital diaphragmatic hernia, Spina ... ORPHA:991
Weaver-Williams Syndrome
Microcephaly, Protruding ear, Cleft palate, Narrow mouth ORPHA:3448
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Cleft helix, Micrognathia, Glossopto... ORPHA:137888
Cerebellar-Facial-Dental Syndrome
Micrognathia, Hypoplasia of the pons, Hypoplasia of the brainstem, Anteverted nares, Cryptorchidi... ORPHA:444072
Charge Syndrome
Anophthalmia, Decreased response to growth hormone stimulation test, Micrognathia, Secundum atria... OMIM:214800
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Anteverted nares, Wide nasal bridge, Midline notch of upper alveola... OMIM:617127
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agenesis of the corpus callosum, C... OMIM:615771
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... ORPHA:36238
Nemaline Myopathy 8
Death in infancy, Respiratory failure OMIM:615348
Gorlin Syndrome
Mandibular prognathia, Vertebral fusion, Cataract, Cerebral calcification, Hypogonadotropic hypog... ORPHA:377
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Reduced circulating p... OMIM:613038
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:177901
Specc1L-Related Hypertelorism Syndrome
Omphalocele, Ventricular septal defect, Prominent nasal bridge, Ectopic kidney, Cryptorchidism, P... ORPHA:1519
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Low-set, posteriorly rotated ears, Dextrocardia, Spina bifid... ORPHA:2437
Edinburgh Malformation Syndrome
Frontal bossing, Anteverted nares, Choanal atresia, Micrognathia, Hydrocephalus, Downturned corne... ORPHA:1895
15Q24 Microdeletion Syndrome
Smooth philtrum, Depressed nasal bridge, Prominent nasal bridge, Congenital diaphragmatic hernia,... ORPHA:94065
Noduli Cutanei, Multiple, With Urinary Tract Abnormalities
Duplicated collecting system, Hydronephrosis OMIM:163850
8Q24.3 Microdeletion Syndrome
Branchial cyst, Ectopic posterior pituitary, Bilateral renal hypoplasia, Cleft maxillary alveolar... ORPHA:508488
Coenzyme Q10 Deficiency, Primary, 8
Flexion contracture, Abnormal renal corticomedullary differentiation, Left ventricular hypertroph... OMIM:616733
Dihydropyrimidine Dehydrogenase Deficiency
Microcephaly, Cerebral atrophy, Coloboma, Microphthalmia, Agenesis of corpus callosum OMIM:274270
Distal Duplication 5Q
Ventricular septal defect, Dextrocardia, Prominent nasal bridge, Micrognathia, Carious teeth, Mic... ORPHA:96097
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Cyanosis ORPHA:91130
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Orofacial cleft, Retinal coloboma, Microphthalmia, Pa... ORPHA:2328
Gillespie Syndrome
Hypoplasia of the iris, Cerebellar hypoplasia, Aniridia, Truncus arteriosus, Thin corpus callosum OMIM:206700
Distal Deletion 17Q
Low-set, posteriorly rotated ears, Hepatomegaly, Abnormality of the philtrum, Microcephaly, Aplas... ORPHA:1597
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Ventricular septal defect, Patent ductus arteriosus, Arteria lusoria, Abnormal aortic arch morpho... ORPHA:99050
8P Inverted Duplication/Deletion Syndrome
Micrognathia, High, narrow palate, Aplasia/Hypoplasia of the gallbladder, Micropenis, Agenesis of... ORPHA:96092
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Abnormal pulmonary interstitial morphology, Restrictive ventilatory defect, H... OMIM:616414
Faciocardiorenal Syndrome
Underdeveloped nasal alae, Wide nasal bridge, Cleft palate, Protruding ear, Plagiocephaly, Horses... ORPHA:1973
Craniofacial Microsomia 1
Occipital encephalocele, Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Ectopic kidney, A... OMIM:164210
Limb Body Wall Complex
Congenital diaphragmatic hernia, Atrial septal defect, Ectopia cordis, Spina bifida occulta, Ence... ORPHA:2369
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Bicuspid aortic valve, Dental crowding, Conductive hearing impairment, Atrial septal defect, Vesi... ORPHA:353281
Microphthalmia, Syndromic 5
Joint laxity, Ectopic posterior pituitary, Cataract, Anophthalmia, Optic nerve hypoplasia, Crypto... OMIM:610125
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Omphalocele, Absent gallbladder, Overriding aorta, Median cleft lip, Microcephaly, Renal hypoplas... ORPHA:3186
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Encephalocele, Death in infancy, Cataract, Peters anomaly, Cleft upper lip, Microcephaly, Hydroce... OMIM:613150
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Osteopenia, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia,... ORPHA:98754
Joubert Syndrome 18
Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Cleft palate, ... OMIM:614815
Glass Syndrome