Gene: Chrd MGI:1313268

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

chordin

Synonyms:

Chd

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Chrd mutations

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

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

Human diseases associated with Chrd (0 diseases)
Human diseases predicted to be associated with Chrd (1344 diseases)

No human diseases associated to this gene by orthology or annotation.

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

Disease	Matching phenotypes	Source
Chromosome 22Q11.2 Deletion Syndrome, Distal	Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Malar flattening, Cleft palate	OMIM:611867
Treacher-Collins Syndrome	Conductive hearing impairment, Hypoplasia of the thymus, Micrognathia, Thyroid hypoplasia, Tooth ...	ORPHA:861
Emanuel Syndrome	Truncus arteriosus, Micrognathia, Recurrent sinusitis, Cleft palate, Hearing impairment, Sacral d...	OMIM:609029
Emanuel Syndrome	Truncus arteriosus, Ectopic anus, Delayed eruption of teeth, Multiple joint contractures, Microgn...	ORPHA:96170
Diabetic Embryopathy	Spinal dysraphism, Micrognathia, Abnormality of the pulmonary artery, Cleft palate, Hearing impai...	ORPHA:1926
Pierre Robin Syndrome	Pierre-Robin sequence, Micrognathia, Cor pulmonale, Cleft palate, Glossoptosis	OMIM:261800
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Patent ductus arteriosus, Double outlet right ventricle, Webbed neck, Narrow palate, T lymphocyto...	OMIM:618223
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome	Abnormal aortic morphology, Webbed neck, Truncus arteriosus, Ventricular septal defect, Micrognat...	ORPHA:2516
Isotretinoin-Like Syndrome	Micrognathia, Abnormal aortic arch morphology, Bilateral sensorineural hearing impairment, Cleft ...	ORPHA:2306
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs	Webbed neck, Truncus arteriosus, Ventricular septal defect, Hydranencephaly, Cleft palate	OMIM:601355
Johnson Neuroectodermal Syndrome	Retrognathia, Patent ductus arteriosus, Conductive hearing impairment, Ventricular septal defect,...	OMIM:147770
Fg Syndrome Type 1	Broad neck, Abnormal large intestine morphology, Micrognathia, Optic nerve hypoplasia, Small pitu...	ORPHA:93932
Double Outlet Right Ventricle	Double outlet right ventricle, Truncus arteriosus, Ventricular septal defect, Aplasia/Hypoplasia ...	ORPHA:3426
Holoprosencephaly-Postaxial Polydactyly Syndrome	Polyhydramnios, Abnormal cardiac septum morphology, Micrognathia, Thyroid hypoplasia, Holoprosenc...	ORPHA:2166
Branchiootorenal Syndrome 1	Conductive hearing impairment, Hypoplasia of the cochlea, Microdontia, Bifid uvula, Cholesteatoma...	OMIM:113650
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hip subluxation, Subvalvular aortic stenosis, Flexion contracture, Ischemic stroke, Cleft soft pa...	OMIM:619503
Pierre Robin Syndrome And Oligodactyly	Cleft palate, Micrognathia, Pierre-Robin sequence	OMIM:172880
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Micrognathia, Thin upper lip vermilion, Short neck, Low-set, posteriorly rotated ears, Cleft palate	ORPHA:2015
22Q11.2 Deletion Syndrome	Meningocele, Hypothyroidism, Polyhydramnios, Conductive hearing impairment, Hypoplasia of the thy...	ORPHA:567
Trisomy 13	Abnormal antihelix morphology, Optic atrophy, Median cleft lip, Abnormal rib morphology, Cleft pa...	ORPHA:3378
Mullegama-Klein-Martinez Syndrome	Sensorineural hearing impairment, Long philtrum, Abnormal cardiac septum morphology, Microtia, Mi...	OMIM:301022
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Atrioventricular canal defect, Polyhydramnios, Asplenia, Micrognathia, Butterfly vertebrae, Poste...	OMIM:265380
Pallister-Hall Syndrome	Atrioventricular canal defect, Precocious puberty, Gonadotropin deficiency, Bifid uvula, Hip disl...	ORPHA:672
Oculoauriculofrontonasal Syndrome	Conductive hearing impairment, Encephalocele, Ventricular septal defect, Microtia, Micrognathia, ...	ORPHA:398156
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Cleft upper lip, Flexion contracture, Vertebral hypoplasia, Mild intrauterine growth retardation,...	OMIM:308050
Genitopalatocardiac Syndrome	Double outlet right ventricle, Cleft upper lip, Ventricular septal defect, Micrognathia, Right ao...	OMIM:231060
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Conductive hearing impairment, High palate, Dermatographic urticaria, Microtia, Micrognathia, Sco...	OMIM:248910
Skraban-Deardorff Syndrome	Thick upper lip vermilion, Ventricular septal defect, Widely spaced teeth, Micrognathia, Hyperpla...	OMIM:617616
Lateral Meningocele Syndrome	Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,...	OMIM:130720
Branchiogenic Deafness Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the middle ear os...	ORPHA:50815
Mosaic Trisomy 14	Camptodactyly of finger, High palate, Ectopic anus, Microtia, Wide mouth, Micrognathia, Short nec...	ORPHA:1703
Camptodactyly Syndrome, Guadalajara Type 1	Camptodactyly of finger, Dental malocclusion, Sacral dimple, Mandibular prognathia, High palate, ...	ORPHA:1327
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Polyhydramnios, Flexion contracture, Micrognathia, Pleural effusion, Large fleshy ears, Hypertrop...	OMIM:616897
Monosomy 22	Retrognathia, High palate, Long philtrum, Hepatosplenomegaly, Hypochromic microcytic anemia, Shor...	ORPHA:96123
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Delayed cranial suture closure, Thyroid hypoplasia, Optic nerve hypoplasia, Short neck, Maternal ...	ORPHA:226307
Microcephaly-Capillary Malformation Syndrome	Patent foramen ovale, Ventricular septal defect, Optic atrophy, Atrial septal defect, Hypoplasia ...	OMIM:614261
Smith-Magenis Syndrome	Mandibular prognathia, Everted upper lip vermilion, Velopharyngeal insufficiency, Abnormality of ...	OMIM:182290
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type	Abnormal antihelix morphology, Camptodactyly of finger, Hypothyroidism, Atrioventricular canal de...	ORPHA:3047
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Gastroesophageal reflux, Everted upper lip vermilion, Ventricular s...	ORPHA:513456
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Conical tooth, Aplasia of the inner ear, Sensorineural hearing impairment, Microtia, Widely space...	ORPHA:90024
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Hypothyroidism, Atrioventricular canal defect, Ascending tubular aorta aneurysm, Abnormal autonom...	ORPHA:453499
14Q24.1Q24.3 Microdeletion Syndrome	Long philtrum, Truncus arteriosus, Ventricular septal defect, Atrial septal defect, Intestinal ma...	ORPHA:401935
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Vertebrobasilar dolichoectasia, Macrotia, Mandibular prognathia, Short philtrum, Thyroid hypoplas...	ORPHA:521445
Distal Monosomy 17Q	Patent ductus arteriosus, Abnormality of the philtrum, Optic atrophy, Microtia, Abnormal cardiac ...	ORPHA:1597
Mandibulofacial Dysostosis-Microcephaly Syndrome	Abnormal antihelix morphology, Conductive hearing impairment, Microtia, Underdeveloped tragus, Mi...	ORPHA:79113
Cleft-Limb-Heart Malformation Syndrome	Truncus arteriosus	OMIM:215850
Stankiewicz-Isidor Syndrome	Patent ductus arteriosus, Retrognathia, Truncus arteriosus, Ventricular septal defect, Pineal cys...	OMIM:617516
Mosaic Trisomy 9	Camptodactyly of finger, Polyhydramnios, Asplenia, Micrognathia, Biparietal narrowing, Hip disloc...	ORPHA:99776
Isolated Pierre Robin Syndrome	Cleft palate, Micrognathia, Glossoptosis	ORPHA:718
Auriculocondylar Syndrome 2	Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand...	OMIM:614669
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Camptodactyly of finger, Hypothyroidism, Ectopic anus, Microtia, Microretrognathia, Delayed puber...	ORPHA:2994
Isolated Cleft Lip	Supernumerary maxillary incisor, Non-midline cleft lip, Conductive hearing impairment, Polyhydram...	ORPHA:199302
Lateral Meningocele Syndrome	Meningocele, Conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia,...	ORPHA:2789
Cleft Palate, Isolated	Micrognathia, Cleft palate, Increased overbite, Gingival overgrowth, Anterior open-bite malocclusion	OMIM:119540
Conotruncal Heart Malformations	Double outlet right ventricle, Truncus arteriosus, Coarctation of aorta, Complete atrioventricula...	OMIM:217095
Distal 22Q11.2 Microdeletion Syndrome	Camptodactyly of finger, Truncus arteriosus, Smooth philtrum, Cleft palate, Ventricular septal de...	ORPHA:261330
Gm1 Gangliosidosis	Camptodactyly of finger, Encephalomalacia, Optic atrophy, Hepatosplenomegaly, Dysphagia, Gingival...	ORPHA:354
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Hemifacial Atrophy, Progressive	Dental malocclusion, Horner syndrome, Kyphosis, Delayed eruption of teeth, Microtia, Tongue atrop...	OMIM:141300
Cleft Palate-Lateral Synechia Syndrome	Micrognathia, Oral synechia, Everted lower lip vermilion, Narrow mouth, Cleft palate	ORPHA:2016
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Oral ulcer, B lymphocytopenia, Generalized lymphadenopathy, Lymphopenia, Abnormally low T cell re...	OMIM:602450
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Patent ductus arteriosus, Long philtrum, Microtia, Micrognathia, Hydrocephalus, Radioulnar synost...	ORPHA:171839
Lethal Congenital Contracture Syndrome 10	Increased variability in muscle fiber diameter, Fetal akinesia sequence, Stiff neck, Thoracic sco...	OMIM:617022
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Atrioventricular canal defect, Truncus arteriosus, Micrognathia, Abnormal optic disc morphology, ...	ORPHA:508498
Cleft Lip With Or Without Cleft Palate	Non-midline cleft lip, Submucous cleft of soft and hard palate, Chronic sinusitis, Median cleft l...	ORPHA:1991
Dyssegmental Dysplasia, Silverman-Handmaker Type	Flexion contracture, Encephalocele, Hydrops fetalis, Short ribs, Micrognathia, Increased placenta...	ORPHA:1865
Congenital Hypothyroidism	Hypotension, Hypothyroidism, Optic atrophy, Anterior hypopituitarism, Intestinal obstruction, Hea...	ORPHA:442
Holoprosencephaly	Abnormal antihelix morphology, Spinal dysraphism, Abnormality of neuronal migration, Optic atroph...	ORPHA:2162
Bor Syndrome	Retrognathia, Hypoplasia of the cochlea, Abnormality of the middle ear ossicles, Facial palsy, En...	ORPHA:107
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Left ventricular outflow tract obstruction, Abnormal aortic arch morphology, Biventricu...	ORPHA:860
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Hypothyroidism, Conductive hearing impairment, Bifid tongue, Exaggerated median tongue furrow, Bi...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Hypothyroidism, Conductive hearing impairment, Bifid tongue, Exaggerated median tongue furrow, Bi...	ORPHA:352665
Congenital Disorder Of Glycosylation, Type Iig	Conductive hearing impairment, Micrognathia, Butterfly vertebrae, Camptodactyly, Cholesteatoma, S...	OMIM:611209
Charge Syndrome	Hypothyroidism, Polyhydramnios, Gonadotropin deficiency, Micrognathia, Secundum atrial septal def...	OMIM:214800
Conductive Deafness-Malformed External Ear Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, High palate, Hypogonadism, Micro...	ORPHA:3216
X-Linked Mandibulofacial Dysostosis	Conductive hearing impairment, Sensorineural hearing impairment, Branchial anomaly, High palate, ...	ORPHA:1131
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Large fleshy ears, Short neck, Peripheral pulmonary artery stenosis, Smooth philtrum, Dysphagia, ...	ORPHA:280633
Nuchal Bleb, Familial	Fetal cystic hygroma, Cystic hygroma, Stillbirth	OMIM:257350
Congenital Disorder Of Glycosylation, Type Ik	Splenomegaly, Flexion contracture, Hypogonadism, Death in infancy, Abnormality of the amniotic fl...	OMIM:608540
Pallister-Hall Syndrome	Precocious puberty, Decreased circulating cortisol level, Hip dislocation, Holoprosencephaly, Cle...	OMIM:146510
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Aplasia of the inner ear, Widely spaced teeth, Micrognathia, Microdontia, Peg-shap...	OMIM:610706
Acrocraniofacial Dysostosis	Genu valgum, Conductive hearing impairment, Sensorineural hearing impairment, Abnormality of the ...	ORPHA:949
Classic Multiminicore Myopathy	Mandibular prognathia, High palate, Multiple joint contractures, Muscle fiber atrophy, Generalize...	ORPHA:324604
Hypothyroidism Due To Tsh Receptor Mutations	Increased radioactive iodine uptake, Elevated circulating thyroid-stimulating hormone concentrati...	ORPHA:90673
Alg3-Cdg	Subcortical cerebral atrophy, High palate, Abnormal uvula morphology, Abnormal cerebral morpholog...	ORPHA:79321
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Conductive hearing impairment, Delayed eruption of teeth, Thyroid lymphangiectasia, Pericardial e...	OMIM:235510
Isolated Thyroid-Stimulating Hormone Deficiency	Delayed cranial suture closure, Macroorchidism, Increased circulating prolactin concentration, In...	ORPHA:90674
Trisomy 1Q	Camptodactyly of finger, Patent ductus arteriosus, Polyhydramnios, Hydrops fetalis, Ventricular s...	ORPHA:261344
Chondrodysplasia, Blomstrand Type	Polyhydramnios, Hydrops fetalis, Advanced ossification of carpal bones, Short ribs, Micrognathia,...	OMIM:215045
Digeorge Syndrome	Hypothyroidism, Hypoplasia of the thymus, Patellar dislocation, Truncus arteriosus, Micrognathia,...	OMIM:188400
Viss Syndrome	Aortic tortuosity, Hypothyroidism, Polyhydramnios, Ascending tubular aorta aneurysm, Bifid tongue...	OMIM:619472
8Q24.3 Microdeletion Syndrome	Atrioventricular canal defect, Global brain atrophy, Truncus arteriosus, Cleft maxillary alveolar...	ORPHA:508488
19P13.3 Microduplication Syndrome	Hip subluxation, Gastroesophageal reflux, Pulmonary arterial hypertension, Precocious puberty, Ve...	ORPHA:447980
Osteopathia Striata With Cranial Sclerosis	Paranasal sinus hypoplasia, Polyhydramnios, Delayed closure of the anterior fontanelle, Conductiv...	OMIM:300373
Trisomy 8P	Abnormal atrioventricular connection, Conductive hearing impairment, Multiple joint contractures,...	ORPHA:264450
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome	Duodenal atresia, Aplasia of the thymus	ORPHA:3004
Branchiootic Syndrome	Conductive hearing impairment, Sensorineural hearing impairment, Lip pit, Facial palsy, Micrognat...	ORPHA:52429
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Knee flexion contracture, Gastroesophageal reflux, Mandibular prognathia, Sensorineural hearing i...	ORPHA:435938
Fibrochondrogenesis 1	Camptodactyly, Short neck, Cleft palate, Widely patent coronal suture, Patent foramen ovale, Shor...	OMIM:228520
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the corpus callosum, Long philtrum, Microtia, Micrognathia, Vertebral segme...	ORPHA:1988
Distal Tetrasomy 15Q	Flexion contracture, Micrognathia, Camptodactyly, Cupped ear, Hydrocephalus, Atrial septal defect...	ORPHA:314588
Branchiootic Syndrome 1	Sensorineural hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, M...	OMIM:602588
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Aggressive behavior	OMIM:615493
Sialidosis Type 2	Pedal edema, Splenomegaly, Flexion contracture, Hydrops fetalis, Kyphosis, Skeletal muscle atroph...	ORPHA:87876
Fryns Syndrome	Non-midline cleft lip, Polyhydramnios, Cerebral cortical atrophy, Ectopic anus, Abnormal cardiac ...	ORPHA:2059
3-Hydroxyisobutyric Aciduria	Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus...	ORPHA:939
Monosomy 18Q	Hypothyroidism, Bilateral conductive hearing impairment, Secundum atrial septal defect, Biparieta...	ORPHA:1600
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Aggressive behavior	ORPHA:356996
Genetic Transient Congenital Hypothyroidism	Elevated circulating thyroid-stimulating hormone concentration, Prolonged neonatal jaundice, Abno...	ORPHA:226316
Axial Mesodermal Dysplasia Spectrum	Cerebral cortical atrophy, Micrognathia, Abnormal intestine morphology, Short neck, Abnormal rib ...	ORPHA:1834
Vitamin K Antagonist Embryofetopathy	Myelomeningocele, Optic atrophy, Microtia, Hydrocephalus, Macroglossia, Short neck, Intrauterine ...	ORPHA:1914
Multiple Pterygium Syndrome, Escobar Variant	Neck pterygia, Conductive hearing impairment, Flexion contracture, Multiple joint contractures, A...	OMIM:265000
Velocardiofacial Syndrome	Retrognathia, Pierre-Robin sequence, Ventricular septal defect, Abnormality of the ear, Interrupt...	OMIM:192430
Catifa Syndrome	Mild microcephaly, Long philtrum, Delayed eruption of teeth, Microtia, Camptodactyly, Cleft lip, ...	OMIM:618761
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Patent foramen ovale, Ventricular septal defect, Death in infancy, Micrognathia, Jaundice, Nephro...	OMIM:208085
Au-Kline Syndrome	Bifid tongue, Bifid uvula, Supernumerary nipple, Prominent metopic ridge, Lipomyelomeningocele, C...	OMIM:616580
Chromosome 15Q14 Deletion Syndrome	Ventricular septal defect, Short philtrum, Atrial septal defect, Everted lower lip vermilion, Pos...	OMIM:616898
Isotretinoin Syndrome	Sacral dimple, Microtia, Micrognathia, Biparietal narrowing, Spina bifida occulta, Abnormality of...	ORPHA:2305
Osteopathia Striata-Cranial Sclerosis Syndrome	Retrognathia, Delayed cranial suture closure, Hyperlordosis, Conductive hearing impairment, Delay...	ORPHA:2780
Sweeney-Cox Syndrome	Polyhydramnios, Asplenia, Broad neck, Micrognathia, Prominent metopic ridge, Uplifted earlobe, Cu...	OMIM:617746
Meier-Gorlin Syndrome 8	Microtia, Micrognathia, Bilateral cryptorchidism, Narrow mouth, Low-set ears, Intrauterine growth...	OMIM:617564
Achondrogenesis Type 1B	Polyhydramnios, Hydrops fetalis, Long philtrum, Micrognathia, Macrocephaly, Short neck, Umbilical...	ORPHA:93298
Acitretin/Etretinate Embryopathy	Atrioventricular canal defect, Third degree atrioventricular block, Conotruncal defect, High pala...	ORPHA:40366
Hypertelorism, Microtia, Facial Clefting Syndrome	Cleft upper lip, Conductive hearing impairment, Microtia, Micrognathia, Abnormal vertebral morpho...	OMIM:239800
Microphthalmia, Syndromic 9	Patent ductus arteriosus, Truncus arteriosus, Ventricular septal defect, Micrognathia, Hypoplasti...	OMIM:601186
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Congenital pyloric atresia, Polyhydramnios, Flexion contracture, Microtia, Macrocephaly, Fragile ...	OMIM:612138
Acrocardiofacial Syndrome	Camptodactyly of finger, Cleft upper lip, Joint dislocation, Hyperthyroidism, Truncus arteriosus,...	ORPHA:2008
Achondrogenesis Type 1A	Polyhydramnios, Hydrops fetalis, Long philtrum, Micrognathia, Multiple rib fractures, Macrocephal...	ORPHA:93299
Opitz-Kaveggia Syndrome	Delayed closure of the anterior fontanelle, Multiple joint contractures, Micrognathia, Camptodact...	OMIM:305450
Achondrogenesis, Type Ib	Polyhydramnios, Absent or minimally ossified vertebral bodies, Hydrops fetalis, Short ribs, Breec...	OMIM:600972
Achondrogenesis	Polyhydramnios, Hydrops fetalis, Long philtrum, Micrognathia, Macrocephaly, Short neck, Umbilical...	ORPHA:932
Mucopolysaccharidosis, Type Vii	Flexion contracture, Short neck, Hepatomegaly, Gingival overgrowth, Hearing impairment, Splenomeg...	OMIM:253220
Auriculocondylar Syndrome 1	Hypoplastic superior helix, Dental malocclusion, Cleft at the superior portion of the pinna, Mand...	OMIM:602483
Charge Syndrome	Polyhydramnios, Aortic arch aneurysm, Optic atrophy, Delayed eruption of teeth, Anterior hypopitu...	ORPHA:138
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Polyhydramnios, Narrow palate, Jejunal atresia, P...	OMIM:612949
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Patent ductus arteriosus, Double outlet right ventricle, Cyanosis, Macrotia, High palate, Microgn...	ORPHA:3304
Phaver Syndrome	Camptodactyly of finger, Conductive hearing impairment, Myelomeningocele, Ventricular septal defe...	ORPHA:2876
Smith-Magenis syndrome	Hyperactivity, Self-mutilation	DECIPHER:8
Craniosynostosis, Herrmann-Opitz Type	Abnormal antihelix morphology, Webbed neck, Microtia, Micrognathia, Oligohydramnios, Abnormal rib...	ORPHA:2145
Alg9-Cdg	Delayed cranial suture closure, Pericardial effusion, Micrognathia, Abnormal left ventricular out...	ORPHA:79328
T-Cell Immunodeficiency With Thymic Aplasia	T lymphocytopenia, Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplen...	OMIM:242700
Van Esch-O'Driscoll Syndrome	Retrognathia, Sacral dimple, Pulmonary valve atresia, Ventricular septal defect, Wide mouth, Micr...	OMIM:301030
Distal 22Q11.2 Microduplication Syndrome	Abnormal antihelix morphology, Camptodactyly of finger, Micrognathia, Biparietal narrowing, Smoot...	ORPHA:261337
Wilson-Turner Syndrome	Microtia, Micrognathia, Malar prominence, Thin upper lip vermilion, Cryptorchidism, Hypogonadotro...	ORPHA:3459
Zechi-Ceide Syndrome	Conductive hearing impairment, Mandibular prognathia, Microtia, Oligodontia, Short philtrum, Cere...	ORPHA:217017
Parc Syndrome	Cleft palate, Microretrognathia	OMIM:600331
Greenberg Dysplasia	Polyhydramnios, Absent or minimally ossified vertebral bodies, Micrognathia, Nonimmune hydrops fe...	OMIM:215140
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Retrognathia, Sacral dimple, Macrotia, High palate, Long philtrum, Ventricular septal defect, Cer...	ORPHA:505237
Saethre-Chotzen Syndrome	Abnormal antihelix morphology, Delayed cranial suture closure, Conductive hearing impairment, Opt...	ORPHA:794
Glycine Encephalopathy	Hyperactivity, Aggressive behavior, Death in infancy, Impulsivity, Irritability, Restlessness	OMIM:605899
22Q11.2 Duplication Syndrome	Ventricular septal defect, Aplasia/Hypoplasia of the thymus, Micrognathia, Interrupted aortic arc...	ORPHA:1727
Warsaw Breakage Syndrome	High palate, Ventricular septal defect, Wide mouth, Hypoplasia of the cochlea, Cutis marmorata, C...	OMIM:613398
Adams-Oliver Syndrome 6	Esophageal varix, Splenomegaly, Truncus arteriosus, Ventricular septal defect	OMIM:616589
Thymic Aplasia	Hypothyroidism, T lymphocytopenia, Malabsorption, Coombs-positive hemolytic anemia, Thyroiditis, ...	ORPHA:83471
Distal Xq28 Microduplication Syndrome	Patent ductus arteriosus, Hypothyroidism, Patent foramen ovale, Upper eyelid edema, High palate, ...	ORPHA:293939
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Shoulder dislocation, Micrognathia, Elbow flexion contracture, Microdontia, Hip dislocation, Disl...	OMIM:245600
Johnson Neuroectodermal Syndrome	Conductive hearing impairment, Hypogonadism, Microtia, Facial palsy, Everted lower lip vermilion,...	ORPHA:2316
Van Maldergem Syndrome 1	Irregular dentition, Conductive hearing impairment, Micrognathia, Camptodactyly, Periventricular ...	OMIM:601390
De Barsy Syndrome	Delayed closure of the anterior fontanelle, Delayed eruption of teeth, Progeroid facial appearanc...	ORPHA:2962
Kallmann Syndrome-Heart Disease Syndrome	Midgut malrotation, Double outlet right ventricle, Cyanosis, Sensorineural hearing impairment, Pu...	ORPHA:2326
Familial Thyroid Dyshormonogenesis	Delayed cranial suture closure, Increased radioactive iodine uptake, Sensorineural hearing impair...	ORPHA:95716
Verloove Vanhorick-Brubakk Syndrome	Non-midline cleft lip, Microtia, Micrognathia, Abnormality of the parathyroid gland, Cleft palate...	ORPHA:3429
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Abnormal lower lip morphology, Abnormal aortic morphology, Cerebral cortical atrophy, Ventricular...	ORPHA:1166
Van Maldergem Syndrome 2	Hip subluxation, Irregular dentition, Conductive hearing impairment, Micrognathia, Periventricula...	OMIM:615546
Oculoauriculovertebral Spectrum With Radial Defects	Non-midline cleft lip, Atrioventricular canal defect, Conductive hearing impairment, Sensorineura...	ORPHA:2549
Fetal Gaucher Disease	Fetal akinesia sequence, Splenomegaly, Flexion contracture, High palate, Hydrops fetalis, Death i...	ORPHA:85212
Cowden Syndrome 5	Hypothyroidism, Colonic diverticula, High palate, Kyphosis, Hyperthyroidism, Micrognathia, Thyroi...	OMIM:615108
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Polyhydramnios, Spinal dysraphism, Flexion contracture, Micrognathia, Camptodactyly, Redundant ne...	ORPHA:96334
Even-Plus Syndrome	Vertebral clefting, Patent foramen ovale, High palate, Microtia, Hypodontia, Agenesis of corpus c...	OMIM:616854
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Increased variability in muscle fiber diameter, Calf muscle hypertrophy, Abnormal macrophage morp...	ORPHA:353
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Hyperactivity, Aggressive behavior, Self-injurious behavior, Anxiety	OMIM:619031
Infantile Sialic Acid Storage Disease	Premature birth, Hydrops fetalis, High palate, Hydrocephalus, Congestive heart failure, Hepatomeg...	OMIM:269920
Heart And Brain Malformation Syndrome	Camptodactyly of finger, Polyhydramnios, Global brain atrophy, Everted lower lip vermilion, Promi...	OMIM:616920
20P12.3 Microdeletion Syndrome	Long philtrum, Microtia, Wolff-Parkinson-White syndrome, Macrocephaly, Atrial septal defect, Hypo...	ORPHA:261295
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Posteriorly rotated ears, Ventricular septal defect, Reduced alpha/beta synthesis ratio, Macroglo...	OMIM:301040
Weaver-Williams Syndrome	Cleft palate, Narrow mouth, Protruding ear	ORPHA:3448
Mycophenolate Mofetil Embryopathy	Hydrops fetalis, Ventricular septal defect, Anotia, Microtia, Micrognathia, Bifid thoracic verteb...	ORPHA:268249
Pelvis-Shoulder Dysplasia	Camptodactyly of finger, Microtia, Spina bifida, Micrognathia, Hydrocephalus, Aplasia/Hypoplasia ...	ORPHA:2839
Tarp Syndrome	Short sternum, High palate, Optic atrophy, Microtia, Glossoptosis, Micrognathia, Tongue nodules, ...	OMIM:311900
Cowden Syndrome 6	Hypothyroidism, Colonic diverticula, High palate, Kyphosis, Hyperthyroidism, Micrognathia, Thyroi...	OMIM:615109
Fetal Akinesia Deformation Sequence 2	High palate, Broad neck, Micrognathia, Cryptorchidism, Tented upper lip vermilion, Low-set ears, ...	OMIM:618388
Chromosome 1P36 Deletion Syndrome, Distal	Camptodactyly of finger, Hypothyroidism, Delayed closure of the anterior fontanelle, Conductive h...	OMIM:607872
Ciliary Dyskinesia, Primary, 37	Hypothyroidism, Dextrocardia, Situs inversus totalis, Right aortic arch, Hearing impairment, Goiter	OMIM:617577
Simpson-Golabi-Behmel Syndrome, Type 1	Polyhydramnios, Exaggerated median tongue furrow, Supernumerary nipple, Cervical ribs, Hepatoblas...	OMIM:312870
Cutis Laxa, Autosomal Recessive, Type Ic	Hypoplasia of the thymus, Morgagni diaphragmatic hernia, Micrognathia, Progeroid facial appearanc...	OMIM:613177
Congenital Myopathy 1B, Autosomal Recessive	Increased variability in muscle fiber diameter, Polyhydramnios, Hydrops fetalis, High palate, Cen...	OMIM:255320
Tetraamelia-Multiple Malformations Syndrome	Polyhydramnios, Optic atrophy, Microtia, Septo-optic dysplasia, Micrognathia, Hydrocephalus, Miss...	ORPHA:3301
Mulibrey Nanism	Enamel hypoplasia, Dental malocclusion, Cardiomegaly, Hydrops fetalis, Pericardial constriction, ...	OMIM:253250
Myhre Syndrome	Pericardial effusion, Camptodactyly, Short neck, Skeletal muscle hypertrophy, Cleft palate, Heari...	OMIM:139210
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Polyhydramnios, Broad neck, Bifid uvula, Optic nerve hypoplasia, Short neck, Peripheral pulmonary...	OMIM:617506
Branchiogenic-Deafness Syndrome	Sensorineural hearing impairment, Abnormality of the middle ear ossicles, Submucous cleft hard pa...	OMIM:609166
Kagami-Ogata Syndrome	Retrognathia, Patent ductus arteriosus, Splenomegaly, Flexion contracture, Diastasis recti, Long ...	OMIM:608149
Hennekam-Beemer Syndrome	Delayed cranial suture closure, Camptodactyly of finger, Hypotension, Conductive hearing impairme...	ORPHA:2135
X-Linked Intellectual Disability, Van Esch Type	Retrognathia, Microtia, Coronal craniosynostosis, Type II diabetes mellitus, Decreased testicular...	ORPHA:163976
Lambert Syndrome	Aplasia/Hypoplasia of the cerebellum, Ventricular septal defect, Branchial anomaly, Wide mouth, J...	ORPHA:1296
Acrocephalopolydactyly	Microtia, Hepatosplenomegaly, Short neck, Cystic hygroma, Genu recurvatum	ORPHA:221054
Alg8-Cdg	Premature birth, Leukoencephalopathy, Anemia, Hydrops fetalis, Cerebral cortical atrophy, Optic a...	ORPHA:79325
Rubinstein-Taybi Syndrome 1	Delayed cranial suture closure, Polyhydramnios, Premature thelarche, Flexion contracture, Patella...	OMIM:180849
Deafness, Conductive, With Malformed External Ear	Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles, Abnormal pin...	OMIM:221300
Nabais Sa-De Vries Syndrome, Type 2	Hypothyroidism, Polyhydramnios, Gastroesophageal reflux, High palate, Microtia, Micrognathia, Hyp...	OMIM:618829
Synaptic Congenital Myasthenic Syndromes	Pulmonary arterial hypertension, Abnormality of the knee, Mandibular prognathia, High palate, Dys...	ORPHA:98915
Intellectual Developmental Disorder, Autosomal Dominant 21	Patent ductus arteriosus, Incisor macrodontia, Long philtrum, Atrial septal defect, Coarctation o...	OMIM:615502
Structural Heart Defects And Renal Anomalies Syndrome	Cyanosis, Systolic heart murmur, Webbed neck, Truncus arteriosus, Ventricular septal defect, Deat...	OMIM:617478
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Genu varum, Macrotia, Mandibular prognathia, Arteriovenous malformation, Abnormal aortic arch mor...	ORPHA:1110
Cowden Syndrome 1	Hypothyroidism, Colonic diverticula, Micrognathia, Ovarian carcinoma, Furrowed tongue, Ovarian cy...	OMIM:158350
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	B lymphocytopenia, Lymphopenia, Autoimmune thrombocytopenia, Severe B lymphocytopenia, Autoimmune...	OMIM:102700
Contractures-Developmental Delay-Pierre Robin Syndrome	Thoracolumbar scoliosis, Wrist flexion contracture, Glossoptosis, Microtia, Micrognathia, Lop ear...	ORPHA:436003
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Polyhydramnios, Flexion contracture, Cerebral cortical atrophy, Increased head circumference, Mic...	OMIM:300868
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Torticollis, Abnormal mandible morphology, Natal tooth	OMIM:217150
Isotretinoin Embryopathy-Like Syndrome	Conotruncal defect, Anotia, Microtia, Micrognathia, Cleft palate	OMIM:243440
Auriculocondylar Syndrome	Micrognathia, Bifid uvula, Question mark ear, Cleft palate, Hearing impairment, Glossoptosis, Cle...	ORPHA:137888
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Ascending tubular aorta aneurysm, Truncus arteriosus, Micrognathia, Microdontia, Bifid uvula, Cam...	OMIM:612474
Scimitar Syndrome	Truncus arteriosus, Abnormal vena cava morphology, Double outlet right ventricle, Ventricular sep...	ORPHA:185
Truncus Arteriosus	Hypoplasia of the thymus, Truncus arteriosus, Pulmonary artery stenosis, Ventricular septal defec...	ORPHA:3384
Fetal Akinesia Deformation Sequence 1	Camptodactyly of finger, Wrist flexion contracture, Polyhydramnios, Micrognathia, Elbow contractu...	OMIM:208150
Mucopolysaccharidosis Type 3	Conductive hearing impairment, Flexion contracture, Optic atrophy, Abnormality of the middle ear ...	ORPHA:581
Cleft Lip/Palate	Dental malocclusion, Conductive hearing impairment, Abnormal number of permanent teeth, Unilatera...	ORPHA:199306
Chromosome 1Q41-Q42 Deletion Syndrome	Cleft upper lip, High palate, Ventricular septal defect, Deep philtrum, Microtia, Widely spaced t...	OMIM:612530
Turnpenny-Fry Syndrome	Polyhydramnios, Conductive hearing impairment, Microdontia, Hypoplasia of the primary teeth, Lumb...	OMIM:618371
Mandibulofacial Dysostosis With Alopecia	Conductive hearing impairment, Delayed eruption of primary teeth, Glossoptosis, Microtia, Microgn...	OMIM:616367
Perching Syndrome	Cyanosis, High palate, Camptodactyly, Scoliosis, Dysphagia, Joint contracture	OMIM:617055
Yunis-Varon Syndrome	Hypoplasia of the frontal lobes, Polyhydramnios, Primary microcephaly, Micrognathia, Hip dislocat...	ORPHA:3472
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Decreased response to growth hormone stimulation test, Broad neck, Microtia, Micrognathia, Bilate...	OMIM:618336
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Vascular dilatation, Cardiomegaly, Severe platyspondyly, Deep ph...	OMIM:613320
Craniofacial Microsomia	Conductive hearing impairment, Vertebral hypoplasia, Micrognathia, Hypoplasia of facial musculatu...	OMIM:164210
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Lissencephaly, Optic nerve hypoplasia, Type II lissencephaly, Polymicrogyria, Gray matter heterot...	OMIM:614643
Intellectual Developmental Disorder, Autosomal Dominant 43	Gastroesophageal reflux, High palate, Microtia, Thin corpus callosum, Short philtrum, Frontal cor...	OMIM:616977
Hyperlysinemia, Type I	Hyperactivity, Cognitive impairment	OMIM:238700
Schneckenbecken Dysplasia	Polyhydramnios, Advanced ossification of carpal bones, Anterior rib cupping, Short ribs, Narrow v...	OMIM:269250
Diprosopus	Non-midline cleft lip, Abnormal cardiac septum morphology, Anencephaly, External ear malformation...	ORPHA:1681
Disorder Of Sex Development-Intellectual Disability Syndrome	Genu valgum, Kyphosis, Microtia, Hypogonadism, Short philtrum, Severe sensorineural hearing impai...	ORPHA:2983
Transaldolase Deficiency	Anemia, Hydrops fetalis, Telangiectasia, Premature skin wrinkling, Atrial septal defect, Hepatosp...	ORPHA:101028
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hypoplasia of the frontal lobes, Flexion contracture, Micrognathia, Elbow flexion contracture, Hi...	OMIM:210710
Short Stature And Facioauriculothoracic Malformations	Cleft upper lip, High palate, Ventricular septal defect, Microtia, Cervical ribs, Short neck, Mic...	OMIM:609654
Holoprosencephaly 13, X-Linked	Vertebral clefting, Micrognathia, Butterfly vertebrae, Optic nerve hypoplasia, Median cleft lip, ...	OMIM:301043
Cranioectodermal Dysplasia 2	Horizontal ribs, Polyhydramnios, Micrognathia, Microdontia, Everted lower lip vermilion, Short ne...	OMIM:613610
X-Linked Intellectual Disability, Abidi Type	Non-midline cleft lip, Decreased testicular size, Cleft palate, Hearing impairment, Protruding ear	ORPHA:85273
Tarp Syndrome	Abnormal antihelix morphology, Cyanosis, Optic atrophy, Micrognathia, Prominent antihelix, Abnorm...	ORPHA:2886
Gm1 Gangliosidosis Type 1	Macrotia, Hydrops fetalis, Long philtrum, Beaking of vertebral bodies T12-L3, Diffuse white matte...	ORPHA:79255
Developmental And Epileptic Encephalopathy 104	Hyperactivity, Self-injurious behavior, Agitation	OMIM:619970
Gaucher Disease, Perinatal Lethal	Polyhydramnios, Desquamation of skin soon after birth, Everted upper lip vermilion, Micrognathia,...	OMIM:608013
Intellectual Developmental Disorder, Autosomal Dominant 1	Hypoplasia of the frontal lobes, Micrognathia, Microdontia, Everted lower lip vermilion, Cupped e...	OMIM:156200
Tetrasomy 5P	Cyanosis, Pulmonary arterial hypertension, Aplasia/Hypoplasia of the abdominal wall musculature, ...	ORPHA:3309
Wolf-Hirschhorn Syndrome	Optic atrophy, Abnormal cardiac septum morphology, Micrognathia, Abnormal lip morphology, Cleft p...	ORPHA:280
Hamel Cerebro-Palato-Cardiac Syndrome	Micrognathia, Atrial septal defect, Narrow mouth, Malar flattening, Cleft palate, Cupped ear	ORPHA:93946
Ciliary Dyskinesia, Primary, 40	Patent ductus arteriosus, Congenitally corrected transposition of the great arteries, Atrioventri...	OMIM:618300
Distal Monosomy 12Q	Bilateral conductive hearing impairment, Micrognathia, Elbow flexion contracture, Median cleft li...	ORPHA:96149
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Patent ductus arteriosus, Polyhydramnios, Microtia, Micrognathia, Duoden...	ORPHA:2547
Down Syndrome	Hypothyroidism, Atrioventricular canal defect, Conductive hearing impairment, Redundant neck skin...	OMIM:190685
Cerebrofacioarticular Syndrome	Irregular dentition, Gray matter heterotopia, Conductive hearing impairment, Microtia, Lymphedema...	ORPHA:314679
Robinow Syndrome, Autosomal Dominant 2	Conductive hearing impairment, Cleft soft palate, Micrognathia, Camptodactyly, Cleft palate, Ging...	OMIM:616331
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Optic atrophy, Micrognathia, Meningoencephalocele, Optic nerve hypoplasia, Type II lissencephaly,...	OMIM:236670
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Sacral dimple, Polyhydramnios, Mandibular prognathia, Microtia, Aganglionic megacolon, Hydrocepha...	OMIM:613603
Gm1-Gangliosidosis, Type I	Splenomegaly, Thickened ribs, Hydrops fetalis, Kyphosis, Death in infancy, Abnormal heart valve m...	OMIM:230500
Orofaciodigital Syndrome Xiv	Bifid tongue, Micrognathia, Holoprosencephaly, Cleft palate, Optic disc coloboma, Posteriorly rot...	OMIM:615948
Hemifacial Microsomia With Radial Defects	Non-midline cleft lip, Conductive hearing impairment, Microtia, Orofacial cleft, Cleft palate, Sh...	OMIM:141400
Mgat2-Cdg	Patent ductus arteriosus, Gastroesophageal reflux, Hydrops fetalis, Ventricular septal defect, Ky...	ORPHA:79329
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Fetal akinesia sequence, Flexion contracture, Hydrops fetalis, Death in infancy, Simplified gyral...	OMIM:618815
Loeys-Dietz Syndrome 5	Cleft soft palate, Reduced subcutaneous adipose tissue, Bifid uvula, Ascending aortic dissection,...	OMIM:615582
Resistance To Thyrotropin-Releasing Hormone Syndrome	Increased circulating prolactin concentration, Elevated circulating thyroid-stimulating hormone c...	ORPHA:99832
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Ventricular septal defect, Death in infancy, Jaundice, Nephrogenic diabetes insipidus, Arthrogryp...	OMIM:613404
6Q16 Microdeletion Syndrome	Retrognathia, Microtia, Micrognathia, Macrocephaly, Abnormal ear morphology, Low-set ears	ORPHA:171829
Split-Hand/Foot Malformation 3	High palate, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Abnormal pinna morpholog...	OMIM:246560
Postaxial Acrofacial Dysostosis	Camptodactyly of finger, Non-midline cleft lip, Conductive hearing impairment, Microtia, Microgna...	ORPHA:246
Lymphatic Malformation 6	Hypothyroidism, Polyhydramnios, Micrognathia, Nonimmune hydrops fetalis, Pleural effusion, Genita...	OMIM:616843
Meier-Gorlin Syndrome 1	Flexion contracture, Micrognathia, Osteochondritis dissecans, Microdontia, Camptodactyly, Elbow d...	OMIM:224690
Braddock-Carey Syndrome 2	Retrognathia, Pierre-Robin sequence, Wide mouth, Cleft palate, Thrombocytopenia, Hearing impairme...	OMIM:619981
Klippel-Feil Syndrome 2, Autosomal Recessive	Cleft upper lip, Conductive hearing impairment, Sensorineural hearing impairment, Ventricular sep...	OMIM:214300
Klippel-Trénaunay Syndrome	Patent ductus arteriosus, Pulmonary embolism, Hydrops fetalis, Macrocephaly, Abnormality of the p...	ORPHA:90308
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Increased head circumference, Pineal cyst, Thick corpus callosum, Left ventricular noncompaction,...	OMIM:300967
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Long philtrum, Microtia, Bifid uvula, Macrocephaly, Everted lower lip vermilion, Downturned corne...	OMIM:618089
Femoral-Facial Syndrome	Hypoplastic acetabulae, Truncus arteriosus, Humeroradial synostosis, Micrognathia, Smooth philtru...	OMIM:134780
Platyspondylic Dysplasia, Torrance Type	Genu varum, Polyhydramnios, Hydrops fetalis, Abnormal carpal morphology, Platyspondyly, Low-set e...	ORPHA:85166
Neuraminidase Deficiency	Hydrops fetalis, Sensorineural hearing impairment, Skeletal muscle atrophy, Bone-marrow foam cell...	OMIM:256550
Vacterl With Hydrocephalus	Retrognathia, Polyhydramnios, Microtia, third degree, Anotia, Absence of the sacrum, Spina bifida...	ORPHA:3412
Hennekam Syndrome	Camptodactyly of finger, Conductive hearing impairment, Delayed eruption of teeth, Pericardial ef...	ORPHA:2136
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Sensorineural hearing impairment, Long philtrum, Micrognathia, Cleft palate, Malar flattening, Gl...	ORPHA:166100
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation	Right aortic arch with mirror image branching, Microcephaly	OMIM:107500
Pendred Syndrome	Hypothyroidism, Sensorineural hearing impairment, Thyroid carcinoma, Hypoplasia of the cochlea, E...	ORPHA:705
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia, Micrognathia, Hypoplasia of the zygomatic bone, Cleft pa...	OMIM:248390
Hartnup Disorder	Hyperactivity, Attention deficit hyperactivity disorder, Emotional lability	OMIM:234500
Abruzzo-Erickson Syndrome	Cleft palate, Macrotia, Hearing impairment, Protruding ear	OMIM:302905
Congenital Myasthenic Syndrome	Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Muscle fiber atrophy, Dysphagia, Distal am...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Polyhydramnios, Limb-girdle muscle weakness, Muscle fiber atrophy, Dysphagia, Distal am...	ORPHA:98914
Microcephaly 6, Primary, Autosomal Recessive	Small cerebral cortex, Microcephaly, Microtia	OMIM:608393
Diamond-Blackfan Anemia 6	Patent ductus arteriosus, Retrognathia, Cleft upper lip, Ventricular hypertrophy, Ventricular sep...	OMIM:612561
Coxoauricular Syndrome	Hip dislocation, Hearing impairment, Microtia	OMIM:122780
Peters Plus Syndrome	Polyhydramnios, Conductive hearing impairment, Cerebral cortical atrophy, Optic atrophy, Abnormal...	ORPHA:709
Blomstrand Lethal Chondrodysplasia	Polyhydramnios, Hydrops fetalis, Long philtrum, Natal tooth, Short ribs, Micrognathia, Synostosis...	ORPHA:50945
Branchiooculofacial Syndrome	Conductive hearing impairment, Premature graying of hair, Micrognathia, Elbow flexion contracture...	OMIM:113620
Heterotaxy, Visceral, 1, X-Linked	Subvalvular aortic stenosis, Atrioventricular canal defect, Polyhydramnios, Cyanosis, Asplenia, H...	OMIM:306955
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Wide anterior fontanel, Abnormality of thyroid physiology, Reduced radioactive iodine uptake, Dec...	ORPHA:95715
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Absent gallbladder, Horizontal ribs, Neonatal death, Wide anterior fontanel, Natal tooth, Microti...	OMIM:617925
Achondrogenesis, Type Ii	Horizontal ribs, Polyhydramnios, Hydrops fetalis, Long philtrum, Short ribs, Absent vertebral bod...	OMIM:200610
Cousin Syndrome	Wrist flexion contracture, Anterior rounding of vertebral bodies, Humeroradial synostosis, Microg...	OMIM:260660
Congenital Disorder Of Deglycosylation 2	Cleft earlobe, Sacral dimple, Gray matter heterotopia, High palate, Microtia, Micrognathia, Thin ...	OMIM:619775
Intellectual Developmental Disorder, X-Linked 109	Impulsivity, Hyperactivity, Aggressive behavior, Agitation	OMIM:309548
20Q11.2 Microduplication Syndrome	Retrognathia, Sacral dimple, Limited elbow extension, Microtia, Thickened ears, Tented philtrum, ...	ORPHA:363659
Fraser Syndrome 1	Conductive hearing impairment, Abnormality of the anus, Laryngeal stenosis, Subglottic stenosis, ...	OMIM:219000
Distal Monosomy 15Q	Bifid tongue, Abnormal cardiac septum morphology, Micrognathia, Hip dislocation, Abnormal aortic ...	ORPHA:1596
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Knee flexion contracture, Cyanotic episode, Primary microcephaly, Simplified gyral pattern, Micro...	ORPHA:284417
Weiss-Kruszka Syndrome	Horizontal crus of helix, Ventricular septal defect, Microtia, Exaggerated cupid's bow, Bicuspid ...	OMIM:618619
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Thick upper lip vermilion, Long philtrum, Wide mouth, Microtia, Thick lower lip vermilion, Cuboid...	ORPHA:163654
Combined Oxidative Phosphorylation Defect Type 27	Diffuse cerebral atrophy, Nonimmune hydrops fetalis, Abnormal cerebral white matter morphology, D...	ORPHA:477774
17Q24.2 Microdeletion Syndrome	Patent ductus arteriosus after birth at term, Otosclerosis, Decreased response to growth hormone ...	ORPHA:529962
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Ventricular septal defect, Vascular ring, Kyphosis, Thick corpus callos...	OMIM:603387
Split-Foot Deformity With Mandibulofacial Dysostosis	Cleft palate, Micrognathia, Malar flattening	OMIM:183700
Permanent Congenital Hypothyroidism	Hypothyroidism, Jaundice, Macroglossia, Umbilical hernia, Thyroid dysgenesis, Goiter	ORPHA:226292
Congenital Disorder Of Glycosylation, Type Ia	Hypothyroidism, Flexion contracture, Pericardial effusion, Nonimmune hydrops fetalis, Pericarditi...	OMIM:212065
Tetraamelia Syndrome 2	Hypoplastic pulmonary veins, Low-set ears, Ventricular septal defect, Bilateral cleft lip, Ankylo...	OMIM:618021
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Gastroesophageal reflux, Postnatal macrocephaly, Periventricular white matter hyperintensities, M...	OMIM:618158
Chromosome 18Q Deletion Syndrome	Conductive hearing impairment, Ascending tubular aorta aneurysm, Optic atrophy, Bifid uvula, Shor...	OMIM:601808
Craniofacioskeletal Syndrome	Patent ductus arteriosus, Absent gallbladder, Ventricular septal defect, Hypoplastic frontal sinu...	OMIM:300712
Mandibulofacial Dysostosis, Guion-Almeida Type	Conductive hearing impairment, Ventricular septal defect, Deep philtrum, Microtia, Esophageal atr...	OMIM:610536
Microphthalmia, Syndromic 2	Hypothyroidism, Flexion contracture, Delayed eruption of teeth, Adrenal insufficiency, Bifid uvul...	OMIM:300166
1P36 Deletion Syndrome	Delayed cranial suture closure, Camptodactyly of finger, Hypothyroidism, Conductive hearing impai...	ORPHA:1606
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Microtia, Micrognathia, Persistence of hemoglobin F, Unilateral cr...	OMIM:300946
Congenital Fibrinogen Deficiency	Cyanosis, Hemorrhagic ovarian cyst, Subcutaneous hemorrhage, Volvulus, Decreased testicular size,...	ORPHA:335
Boomerang Dysplasia	Polyhydramnios, Aplasia/Hypoplasia of the abdominal wall musculature, Hydrops fetalis, Decreased ...	ORPHA:1263
Hypothyroidism, Congenital, Nongoitrous, 2	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi...	OMIM:218700
Phocomelia, Schinzel Type	Meningocele, Hydrops fetalis, Humeroradial synostosis, Micrognathia, Anal atresia, Tracheoesophag...	ORPHA:2879
Thyroid Hypoplasia	Hypothyroidism, Jaundice, Macroglossia, Thyroid hypoplasia	ORPHA:95720
Fontaine Progeroid Syndrome	Conductive hearing impairment, Micrognathia, Microdontia, Reduced subcutaneous adipose tissue, Ev...	OMIM:612289
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microtia, Widely spaced teeth, Microdontia, Heart murmur, Recurrent otitis media, Atrial septal d...	ORPHA:2728
Intellectual Developmental Disorder, Autosomal Recessive 35	Long philtrum, Microtia, Micrognathia, Everted lower lip vermilion, Thin upper lip vermilion, Dow...	OMIM:615162
Primary Pulmonary Hypoplasia	Cyanosis, Patellar hypoplasia, Micrognathia, Secundum atrial septal defect, Hypoxemia, Dextrocard...	ORPHA:2257
Neu-Laxova Syndrome	Polyhydramnios, Flexion contracture, Abnormality of neuronal migration, Micrognathia, Bifid uvula...	ORPHA:2671
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Hyperlordosis, Limited knee flexion/extension, Right bundle branch block, Limited elbow movement,...	ORPHA:268
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Aggressive behavior, Hyperactivity, Hydrocephalus	OMIM:619470
Meier-Gorlin Syndrome 7	Breast aplasia, Heart block, Dislocated radial head, Cleft palate, Second degree atrioventricular...	OMIM:617063
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome	Retrognathia, Mandibular prognathia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Clef...	ORPHA:2521
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Long philtrum, Microtia, Micrognathia, Everted lower lip vermilion, Thin upper lip vermilion, Low...	ORPHA:357175
Atrioventricular Septal Defect, Susceptibility To, 2	Pulmonary artery atresia, Atrioventricular canal defect, Right aortic arch with mirror image bran...	OMIM:606217
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Agitation	ORPHA:100973
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Mandibular prognathia, Ventricular septal defect, Ectopic anus, Short philtrum, Downturned corner...	ORPHA:94066
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Double outlet right ventricle, Premature thelarche, Sclerotic cranial sutures, Ventricular septal...	ORPHA:371428
Cerebrocostomandibular Syndrome	Polyhydramnios, Conductive hearing impairment, Cleft soft palate, Micrognathia, Elbow flexion con...	OMIM:117650
Meier-Gorlin Syndrome 5	Small earlobe, Gastroesophageal reflux, Patellar aplasia, Long philtrum, Microtia, Micrognathia, ...	OMIM:613805
Oculofaciocardiodental Syndrome	Abnormal cardiac septum morphology, Delayed eruption of teeth, Peripheral pulmonary artery stenos...	ORPHA:2712
Fetal Parvovirus Syndrome	Anemia, Hydrops fetalis, Hypertrophic cardiomyopathy, Thrombocytopenia, Ascites, Increased nuchal...	ORPHA:295
Renal-Hepatic-Pancreatic Dysplasia 2	Asplenia, Truncus arteriosus, Hypertrophic cardiomyopathy, Situs inversus totalis, Aortic valve s...	OMIM:615415
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Non-midline cleft lip, Abnormality of the philtrum, Ventricular septal defect, Microtia, Bipariet...	ORPHA:1770
Ossicular Malformations, Familial	Congenital conductive hearing impairment, Abnormality of the middle ear ossicles	OMIM:165680
Trichorhinophalangeal Syndrome, Type Ii	Hip subluxation, Micrognathia, Scapular winging, Hearing impairment, Recurrent otitis media, Micr...	OMIM:150230
Peroxisome Biogenesis Disorder 2A (Zellweger)	Optic nerve dysplasia, Hypoplasia of the thymus, Joint contracture of the hand, Micrognathia, Jau...	OMIM:214110
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Irregular dentition, Microtia, Lymphedema, Pulmonary lymphangiectasia, Camptodactyly, Pericardial...	OMIM:616006
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities	Bilateral conductive hearing impairment, Abnormality of the middle ear ossicles, Micrognathia, Ab...	OMIM:128980
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Vertebral clefting, Gastroesophageal reflux, Stapes ankylosis, Long philtrum, Velopharyngeal insu...	OMIM:614701
Branchiootic Syndrome 3	Branchial cyst, Sensorineural hearing impairment	OMIM:608389
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Sensorineural hearing impairment, Broad neck, Granulocytopenia, Microtia, Micrognathia, Bifid uvu...	OMIM:606164
Schwartz-Jampel Syndrome, Type 1	Wrist flexion contracture, Micrognathia, Short neck, Skeletal muscle hypertrophy, Flexion contrac...	OMIM:255800
Cardiomyopathy, Familial Hypertrophic, 27	Impaired myocardial contractility, Left ventricular diastolic dysfunction, Tricuspid regurgitatio...	OMIM:618052
Cog1-Cdg	Broad neck, Micrognathia, Butterfly vertebrae, Hepatosplenomegaly, Short neck, Posterior rib gap,...	ORPHA:263508
Trisomy 20P	Abnormal antihelix morphology, Camptodactyly of finger, Ectopic anus, Micrognathia, Abnormal auto...	ORPHA:261318
Spondyloepimetaphyseal Dysplasia With Joint Laxity	Radioulnar dislocation, High palate, Abnormality of the elbow, Micrognathia, Elbow flexion contra...	ORPHA:93359
Chromosome 16P13.3 Duplication Syndrome	Micrognathia, Microdontia, Bifid uvula, Hip dislocation, Camptodactyly, Short neck, Smooth philtr...	OMIM:613458
Esophageal Atresia	Cyanosis, Polyhydramnios, Subglottic stenosis, Dysphagia, Cleft palate, Hearing impairment, Ventr...	ORPHA:1199
Amish Lethal Microcephaly	Cleft soft palate, Optic atrophy, Death in infancy, Spina bifida, Micrognathia, Limb hypertonia, ...	ORPHA:99742
Peters-Plus Syndrome	Polyhydramnios, Broad neck, Short lingual frenulum, Micrognathia, Microtia, second degree, Short ...	OMIM:261540
Fanconi Anemia, Complementation Group B	Patent ductus arteriosus, Ventricular septal defect, Hypogonadism, Esophageal atresia, Death in i...	OMIM:300514
Dysplastic Cortical Hyperostosis	Polyhydramnios, Hydrops fetalis, Abnormality of neuronal migration, Microcephaly, Hepatomegaly, S...	ORPHA:2204
Noonan Syndrome 7	Webbed neck, Dysphagia, Pulmonic stenosis, Impaired oropharyngeal swallow response, Macrocephaly,...	OMIM:613706
Hydrolethalus	Retrognathia, Polyhydramnios, Gingival cleft, Micrognathia, Anencephaly, Arrhinencephaly, Hydroce...	ORPHA:2189
Blackfan-Diamond Anemia	Acute myeloid leukemia, Cleft soft palate, Micrognathia, Nonimmune hydrops fetalis, Short neck, T...	ORPHA:124
Leukocyte Adhesion Deficiency Type Ii	Hypoplasia of the frontal lobes, Conductive hearing impairment, Hepatomegaly, Gingival overgrowth...	ORPHA:99843
20Q13.33 Microdeletion Syndrome	Sacral dimple, Prominent crus of helix, Dilation of Virchow-Robin spaces, Hip dislocation, Atrial...	ORPHA:261311
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Camptodactyly of finger, Shoulder dislocation, Ventricular hypertrophy, Flexion contracture, Dela...	OMIM:143095
Dubowitz Syndrome	Abnormal antihelix morphology, Delayed cranial suture closure, Delayed eruption of teeth, Microgn...	ORPHA:235
Diamond-Blackfan Anemia 10	Patent ductus arteriosus, Anemia, Conductive hearing impairment, Broad neck, Ventricular septal d...	OMIM:613309
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Pseudobulbar paralysis, Supernumerary nipple, Tricuspid regurgitation, Patent foramen ovale, Abno...	ORPHA:466791
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Thoracolumbar scoliosis, Microtia, Carpal bone hypoplasia, Premature rupture of membranes, Platys...	OMIM:616723
Orofaciodigital Syndrome Type 4	Camptodactyly of finger, Conductive hearing impairment, Cerebral cortical atrophy, Microtia, thir...	ORPHA:2753
Parenti-Mignot Neurodevelopmental Syndrome	Microtia, Micrognathia, Short philtrum, Low-set ears, Cupped ear, Craniosynostosis, Posteriorly r...	OMIM:619873
Pediatric-Onset Graves Disease	Sinus tachycardia, Increased circulating T4 concentration, Increased circulating free T3, Graves ...	ORPHA:525731
Biliary, Renal, Neurologic, And Skeletal Syndrome	Atrioventricular canal defect, Polyhydramnios, Unbalanced atrioventricular canal defect, Cardiac ...	OMIM:619534
Congenital Disorder Of Glycosylation, Type Iil	Retrognathia, Enamel hypoplasia, Patent ductus arteriosus, Splenomegaly, Peau d'orange, Ventricul...	OMIM:614576
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Hyperlordosis, Muscle fiber splitting, Flexion contracture, Increased variability in muscle fiber...	OMIM:253700
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Optic atrophy, Subdural hemorrhage, Smooth philtrum, Dehydration, Thrombocytopenia, Pulmonary emb...	ORPHA:79282
Cardiofaciocutaneous Syndrome 1	Hypoplasia of the frontal lobes, Polyhydramnios, Cerebral cortical atrophy, Micrognathia, Hypertr...	OMIM:115150
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, High palate, Atrial septal defect, Hypoplasia of the ear cartilage, Low-set, posteri...	ORPHA:1035
Generalized Arterial Calcification Of Infancy	Cyanosis, Ventricular hypertrophy, Stapes ankylosis, Conductive hearing impairment, Polyhydramnio...	ORPHA:51608
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Sensorineural hearing impairment, Patellar hypoplasia, Long philtrum, Thick corpus ...	ORPHA:464288
Hemolytic Disease Of Fetus And Newborn, Rh-Induced	Polyhydramnios, Hydrops fetalis, Fetal pleural effusion, Fetal ascites, Hepatomegaly, Fetal peric...	OMIM:619462
Congenital Gerbode Defect	Pedal edema, Systolic heart murmur, Palpitations, Peripheral edema, Elevated right atrial pressur...	ORPHA:99095
Postsynaptic Congenital Myasthenic Syndromes	Cyanosis, Weakness of long finger extensor muscles, High palate, Abnormality of masticatory muscl...	ORPHA:98913
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Microtia, Arrhinencephaly, Radioulnar synostosis, Microretrognathia, Malar f...	ORPHA:1788
Yunis-Varon Syndrome	Hypoplasia of the frontal lobes, Polyhydramnios, Micrognathia, Hypoplastic facial bones, Hip disl...	OMIM:216340
Meier-Gorlin Syndrome 6	Gastroesophageal reflux, Conductive hearing impairment, Decreased response to growth hormone stim...	OMIM:616835
Aymé-Gripp Syndrome	Delayed cranial suture closure, Cerebral cortical atrophy, Pericardial effusion, Camptodactyly, P...	ORPHA:1272
Ohdo Syndrome, X-Linked	High palate, Long philtrum, Microtia, Widely spaced teeth, Micrognathia, Microdontia, Narrow mout...	OMIM:300895
Brachytelephalangic Chondrodysplasia Punctata	Vertebral hypoplasia, Butterfly vertebrae, Optic nerve hypoplasia, Hypoplastic cervical vertebrae...	ORPHA:79345
Proximal 16P11.2 Microduplication Syndrome	Microtia, Thin upper lip vermilion, Congenital diaphragmatic hernia, Abnormal basal ganglia MRI s...	ORPHA:370079
Cardiofaciocutaneous Syndrome	Cerebral cortical atrophy, Optic atrophy, Biparietal narrowing, Hypertrophic cardiomyopathy, Shor...	ORPHA:1340
Treacher Collins Syndrome 1	Hypoplasia of the pharynx, Conductive hearing impairment, Cleft soft palate, Wide mouth, Microtia...	OMIM:154500
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Retrognathia, Patent ductus arteriosus, Sensorineural hearing impairment, Ventricular septal defe...	OMIM:612938
Lymphedema, Cardiac Septal Defects, And Characteristic Facies	Patent ductus arteriosus, Hydrops fetalis, Ventricular septal defect, Vascular ring, Lymphedema, ...	OMIM:601927
Ohdo Syndrome	Long philtrum, Microtia, Widely spaced teeth, Micrognathia, Narrow mouth, Smooth philtrum, Crypto...	OMIM:249620
Orofaciodigital Syndrome Type 5	Enamel hypoplasia, Non-midline cleft lip, Abnormality of the philtrum, Bifid tongue, Cleft soft p...	ORPHA:2919
Bamforth-Lazarus Syndrome	Retrognathia, Cleft palate, Thyroid agenesis, Congenital hypothyroidism	ORPHA:1226
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Patent ductus arteriosus, Absent gallbladder, Anemia, Ventricular septal defect, Microtia, Heart ...	ORPHA:163979
Microgastria-Limb Reduction Defect Syndrome	Truncus arteriosus, Elbow dislocation, Hepatomegaly, Abnormal cortical gyration, Esophageal atres...	ORPHA:2538
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Hypoplasia of the thymus, Lymphopenia	OMIM:200900
Monosomy 9P	Abnormal antihelix morphology, Micrognathia, Short neck, Abnormal rib morphology, Cleft palate, A...	ORPHA:261112
Indomethacin Embryofetopathy	Hydrops fetalis, Ventricular septal defect, Atrial septal defect, Oligohydramnios, Premature birt...	ORPHA:1909
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Nodular goiter, Abnormal neck blood vessel morphology, Colon canc...	ORPHA:319487
Hypothyroidism, Congenital, Nongoitrous, 9	Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone level, Decreased circu...	OMIM:301035
Burn-Mckeown Syndrome	Cleft upper lip, Conductive hearing impairment, Mandibular prognathia, Ventricular septal defect,...	OMIM:608572
8Q22.1 Microdeletion Syndrome	Abnormal antihelix morphology, Camptodactyly of finger, Long philtrum, Hypogonadism, Submucous cl...	ORPHA:178303
Paganini-Miozzo Syndrome	Mandibular prognathia, Microtia, Downturned corners of mouth, Thin vermilion border, Low-set ears...	OMIM:301025
Buratti-Harel Syndrome	Gastroesophageal reflux, High palate, Dilation of Virchow-Robin spaces, Microtia, Velopharyngeal ...	OMIM:619314
Apert Syndrome	Morphological abnormality of the semicircular canal, Conductive hearing impairment, Sensorineural...	ORPHA:87
Marshall-Smith Syndrome	Irregular dentition, Bilateral conductive hearing impairment, Microdontia, Atlantoaxial dislocati...	OMIM:602535
Heart Defects, Congenital, And Other Congenital Anomalies	Truncus arteriosus, Microcolon, Hypoplastic tricuspid valve, Cervical ribs, Pulmonary artery sten...	OMIM:600001
Hypothyroidism, Congenital, Nongoitrous, 1	Hypothyroidism, Elevated circulating thyroid-stimulating hormone concentration, Thyroid hypoplasi...	OMIM:275200
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Webbed neck, Esophageal atresia, Fused cervical vertebrae, Butterfly vertebrae, Sub...	OMIM:619227
Seckel Syndrome 7	Central hypothyroidism, Lumbar scoliosis, Abnormal carpal morphology, Microtia, Microcephaly, Mad...	OMIM:614851
Desmosterolosis	Abnormality of neuronal migration, Micrognathia, Bifid uvula, Lissencephaly, Cleft palate, Spleno...	ORPHA:35107
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, Mental deterioration	ORPHA:2382
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Polyhydramnios, Hydrops fetalis, Short ribs, Anencephaly, Hydrocephalus, Cerebellar vermis hypopl...	OMIM:616546
Microtia, Hearing Impairment, And Cleft Palate	Microtia, Increased incisura length, Mixed hearing impairment, Cleft palate, Overfolded helix	OMIM:612290
Nager Syndrome	Non-midline cleft lip, Wide mouth, Microtia, Micrognathia, Hypoplasia of the maxilla, Abnormal pa...	ORPHA:245
Achondrogenesis, Type Ia	Hypoplastic sacrum, Polyhydramnios, Hydrops fetalis, Flaring of rib cage, Short ribs, Unossified ...	OMIM:200600
Campomelia, Cumming Type	Pancreatic cysts, Hydrops fetalis, Death in infancy, Lymphedema, Prematurely aged appearance, Oli...	ORPHA:1318
Feingold Syndrome 1	Polyhydramnios, Asplenia, Micrognathia, Everted lower lip vermilion, Hearing impairment, Posterio...	OMIM:164280
Developmental And Epileptic Encephalopathy 96	Hydrops fetalis, Primary microcephaly, Death in infancy	OMIM:619340
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome	Patent ductus arteriosus, Retrognathia, High palate, Sensorineural hearing impairment, Low-set ea...	ORPHA:52055
Pendred Syndrome	Thyroid carcinoma, Cochlear malformation, Abnormal vestibular function, Compensated hypothyroidis...	OMIM:274600
Neurodevelopmental Disorder With Spasticity And Poor Growth	Knee flexion contracture, Patent ductus arteriosus, Patent foramen ovale, Gastroesophageal reflux...	OMIM:618076
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Elevated circulating thyroid-stimulating hormone concentration, Macroglossia, Decreased circulati...	ORPHA:226313
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Everted upper lip vermilion, Wide mouth, Microtia, Widely spaced teeth, Macrocephaly, Oligohydram...	OMIM:619056
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Thickened ribs, Conductive hearing impairment, Flexion contracture, Opti...	ORPHA:217093
Kagami-Ogata Syndrome	Coat hanger sign of ribs, Polyhydramnios, Diastasis recti, Webbed neck, Microtia, Micrognathia, H...	ORPHA:254519
Microphthalmia, Syndromic 8	Cleft upper lip, Mandibular prognathia, Widely-spaced maxillary central incisors, Cryptorchidism,...	OMIM:601349
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Tetraploidy	Aplasia/Hypoplasia of the thymus, Micrognathia, Biparietal narrowing, Short philtrum, Microcephal...	ORPHA:3305
Meacham Syndrome	Aplasia of the left hemidiaphragm, Ventricular septal defect, Enlarged kidney, Single umbilical a...	OMIM:608978
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism	Polyhydramnios, Hydrops fetalis, Nonimmune hydrops fetalis, Adrenal hypoplasia	OMIM:613124
Absence Of The Pulmonary Artery	Cyanosis, Pedal edema, Systolic heart murmur, Truncus arteriosus, Abnormal cardiac septum morphol...	ORPHA:980
Tetrasomy 9P	Abnormal cardiac septum morphology, Micrognathia, Bifid uvula, Lissencephaly, Pericarditis, Myosi...	ORPHA:3310
Distal Monosomy 10Q	Micrognathia, Hip dislocation, Morphological abnormality of the vestibule of the inner ear, Spina...	ORPHA:96148
Ritscher-Schinzel Syndrome 1	Double outlet right ventricle, Decreased response to growth hormone stimulation test, Ventricular...	OMIM:220210
Atelosteogenesis, Type Ii	Increased intervertebral space, Horizontal sacrum, Death in infancy, Micrognathia, Cervical kypho...	OMIM:256050
Spondylometaphyseal Dysplasia, Schmidt Type	Polyhydramnios, Abnormality of the knee, Genu valgum, Gastroesophageal reflux, Cleft soft palate,...	ORPHA:93316
Brain-Lung-Thyroid Syndrome	Pulmonary arterial hypertension, Patent foramen ovale, Thyroid hemiagenesis, Sensorineural hearin...	ORPHA:209905
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Atresia of the external auditory canal, Conductive hearing impairment, Aplasia/Hypoplasia of the ...	ORPHA:3236
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Nodular goiter, Abnormal neck blood vessel morphology, Colon canc...	ORPHA:97290
Galloway-Mowat Syndrome	Camptodactyly of finger, Premature birth, Macrotia, Aqueductal stenosis, Abnormality of neuronal ...	ORPHA:2065
Hardikar Syndrome	Cleft soft palate, Hepatosplenomegaly, Celiac disease, Pulmonary artery stenosis, Hepatomegaly, H...	OMIM:301068
Meier-Gorlin Syndrome 4	Patellar aplasia, Microtia, Thick lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, B...	OMIM:613804
Combined Oxidative Phosphorylation Deficiency 47	Sensorineural hearing impairment, Long philtrum, Dysphagia, Short neck, Cryptorchidism, Hepatomeg...	OMIM:618958
Congenital Pulmonary Lymphangiectasia	Cyanosis, Gastroesophageal reflux, Pulmonary arterial hypertension, Hydrops fetalis, Pulmonic ste...	ORPHA:2414
Mucopolysaccharidosis Type 7	Anterior beaking of lumbar vertebrae, Hydrops fetalis, Lymphedema, Arteriovenous malformation, Sh...	ORPHA:584
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Hyperactivity, Aggressive behavior, Self-injurious behavior, Self-biting, Attention deficit hyper...	OMIM:619827
Mitochondrial Complex I Deficiency, Nuclear Type 35	Pulmonary arterial hypertension, Nonimmune hydrops fetalis, Redundant neck skin, Neonatal death, ...	OMIM:619003
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Thickened ribs, Conductive hearing impairment, Flexion contracture, Opti...	ORPHA:217085
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome	Patent ductus arteriosus, Pulmonary arterial hypertension, Cleft soft palate, Microtia, Micrognat...	ORPHA:2282
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Thick upper lip vermilion, Flexion contracture, Long philtrum, Wide mouth, Microtia, Thick lower ...	OMIM:611717
Trisomy 8Q	Non-midline cleft lip, Myelomeningocele, Bifid tongue, High palate, Micrognathia, Abnormal oral f...	ORPHA:1752
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood, Microcephaly	OMIM:302000
Ear-Patella-Short Stature Syndrome	Camptodactyly of finger, Mandibular aplasia, Microtia, third degree, Micrognathia, Bifid uvula, B...	ORPHA:2554
Hutchinson-Gilford Progeria Syndrome	Cyanosis, Ventricular hypertrophy, Conductive hearing impairment, Left ventricular diastolic dysf...	ORPHA:740
You-Hoover-Fong Syndrome	Vascular ring, Coarctation of aorta, Double aortic arch, Kyphoscoliosis, Microcephaly, Accessory ...	OMIM:616954
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Conductive hearing impairment, Patellar dislocation, Talon cusp, Narrow palate, Ventricular septa...	ORPHA:353281
Mucopolysaccharidosis, Type Ivb	Grayish enamel, Ovoid vertebral bodies, Hepatomegaly, Hearing impairment, Genu valgum, Ulnar devi...	OMIM:253010
Hydrops Fetalis, Nonimmune	Anemia, Hydrops fetalis, Congestive heart failure, Nonimmune hydrops fetalis	OMIM:236750
Schilbach-Rott Syndrome	Microtia, Micrognathia, Bifid uvula, Submucous cleft hard palate, Narrow mouth, Microcephaly, Pos...	OMIM:164220
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Long philtrum, Microtia, Camptodactyly, Breast hypoplasia, Thin upper lip vermilion, Narrow mouth...	OMIM:601353
Deafness-Hypogonadism Syndrome	Stapes ankylosis, Conductive hearing impairment, Abnormality of the middle ear ossicles, Enlarged...	ORPHA:90646
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2	Patent ductus arteriosus, Aortic rupture, Polyhydramnios, Conductive hearing impairment, Tricuspi...	OMIM:614557
Idiopathic Neonatal Atrial Flutter	Supraventricular tachycardia, Hydrops fetalis, Reduced left ventricular ejection fraction, Abnorm...	ORPHA:45452
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Female hypogonadism, Enamel hypoplasia, Tympanosclerosis, Hypothyroidism, Atrophic gastritis, Dec...	OMIM:240300
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Ascending tubular aorta aneurysm, Multiple joint contractures, Micrognathia, Atlantoaxial disloca...	ORPHA:536467
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Ventricular septal defect, Micrognathia, Short philtrum, Downturned corners of mouth, Short neck,...	ORPHA:93267
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Long philtrum, Wide mouth, Microtia, Micrognathia, Oligodontia, Recurrent otitis media, Smooth ph...	OMIM:602562
Hsd10 Disease, Infantile Type	Cyanosis, Frontotemporal cerebral atrophy, Optic atrophy, Diffuse cerebral atrophy, Hypertrophic ...	ORPHA:391428
Alstrom Syndrome	Gingivitis, Hypothyroidism, Diabetes insipidus, Hyperinsulinemia, Decreased response to growth ho...	OMIM:203800
Hypothyroidism, Congenital, Nongoitrous, 5	Hypothyroidism, Patent foramen ovale, Decreased circulating free T4 concentration, Elevated circu...	OMIM:225250
Immunodeficiency 42	Recurrent aphthous stomatitis, Hypoplasia of the thymus, Splenomegaly	OMIM:616622
Proteus-Like Syndrome	Splenomegaly, Mandibular prognathia, Hydrocephalus, Communicating hydrocephalus, Macrocephaly, Ve...	ORPHA:2969
Zttk Syndrome	Flexion contracture, Optic atrophy, Bifid uvula, Cervical ribs, Intestinal atresia, Ventricular s...	OMIM:617140
Van Der Woude Syndrome 2	Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate	OMIM:606713
Heterotaxy, Visceral, 7, Autosomal	Cyanosis, Atrioventricular canal defect, Mitral atresia, Abnormal cardiac septum morphology, Comm...	OMIM:616749
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Delayed cranial suture closure, Hypothyroidism, Micrognathia, Microdontia, Smooth philtrum, Throm...	OMIM:620005
Pyle Disease	Genu valgum, Mandibular prognathia, Hypoplastic frontal sinuses, Delayed eruption of teeth, Absen...	OMIM:265900
Opitz Gbbb Syndrome	Ectopic anus, Micrognathia, Thyroglossal cyst, Abnormal corpus callosum morphology, Dysphagia, Pr...	ORPHA:2745
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Diabetes insipidus, Conductive hearing impairment, Sensorineural hearing impa...	OMIM:618500
Maffucci Syndrome	Parathyroid adenoma, Neoplasm of the parathyroid gland, Neoplasm of the adrenal cortex, Multiple ...	ORPHA:163634
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Anemia, Hydrops fetalis, Sensorineural hearing impairment, Radioulnar synostosis, Hydrocele testi...	OMIM:616738
Ring Chromosome 12 Syndrome	Hypothyroidism, Webbed neck, Microtia, Secundum atrial septal defect, Breast hypoplasia, Microcep...	ORPHA:1439
Mccune-Albright Syndrome	Precocious puberty, Abnormal testis morphology, Hyperplasia of the Leydig cells, Bone marrow hypo...	ORPHA:562
Landau-Kleffner Syndrome	Hyperactivity, Aggressive behavior, Social and occupational deterioration, Emotional lability, Im...	ORPHA:98818
Fryns Syndrome	Polyhydramnios, Broad neck, Camptodactyly, Short neck, Hypoplasia of the optic tract, Cleft palat...	OMIM:229850
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Patent ductus arteriosus, Macrotia, Anotia, Microtia, Micrognathia, Acetabular dysp...	OMIM:616462
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Severely reduced left ventricular ejection fraction, Wolff-Parkinson-White syndrome, Le...	ORPHA:444013
Bronchopulmonary Dysplasia	Premature birth, Hyperoxemia, Right ventricular failure, Right ventricular hypertrophy	ORPHA:70589
Monosomy 18P	Abnormal antihelix morphology, Hypothyroidism, Macrotia, Webbed neck, Hypodontia, Micrognathia, S...	ORPHA:1598
Oligomeganephronia	Premature birth, Micrognathia, Secundum atrial septal defect, Hypertension, Congenital diaphragma...	ORPHA:2260
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Polyhydramnios, Conductive hearing impairment, Patellar dislocation, Micrognathia, Abnormal subcl...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Polyhydramnios, Conductive hearing impairment, Patellar dislocation, Micrognathia, Abnormal subcl...	ORPHA:353277
Say Syndrome	Cleft palate, Micrognathia, Macrotia	OMIM:181180
Umbilical Cord Ulceration-Intestinal Atresia Syndrome	Polyhydramnios, Abnormal aortic morphology, Hydrops fetalis, Anemia, Ventricular septal defect, A...	ORPHA:3405
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar hypoplasia, Cerebral hypoplasia, Neuronal loss in the cerebral cortex, Aplasia/Hypopla...	ORPHA:168486
Apert Syndrome	Delayed cranial suture closure, Humeroradial synostosis, Delayed eruption of teeth, Ectopic anus,...	OMIM:101200
Fanconi Anemia, Complementation Group F	Sacral dimple, Patent ductus arteriosus, Polyhydramnios, Conductive hearing impairment, Decreased...	OMIM:603467
Stickler Syndrome, Type I	Conductive hearing impairment, Sensorineural hearing impairment, Pierre-Robin sequence, Kyphosis,...	OMIM:108300
Mucopolysaccharidosis Type 2	Conductive hearing impairment, Optic atrophy, Hip osteoarthritis, Hepatomegaly, Papilledema, Ging...	ORPHA:580
Trichohepatoenteric Syndrome 1	Polyhydramnios, Splenomegaly, Abnormalities of placenta or umbilical cord, Long philtrum, Villous...	OMIM:222470
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Anemia, Webbed neck, Anotia, Microtia, Esophageal atresia, Micrognathia, Cere...	OMIM:614083
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant	Pierre-Robin sequence, Sensorineural hearing impairment, Premature osteoarthritis, Platyspondyly,...	OMIM:184840
Adams-Oliver Syndrome 5	Pulmonary arterial hypertension, Patent foramen ovale, Splenomegaly, Pulmonic stenosis, Hypersple...	OMIM:616028
8P23.1 Microdeletion Syndrome

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