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Gene: Chrd MGI:1313268

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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.

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 Similarity of
phenotypes		 Matching phenotypes Source
Chromosome 22Q11.2 Deletion Syndrome, Distal
Malar flattening, Truncus arteriosus, Thin upper lip vermilion, Smooth philtrum, Cleft palate OMIM:611867
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Encephalocele, Cryptorchidism, Abnormality of the middle e... ORPHA:861
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Low-set ears, Carious teeth, Bilateral conductive hearing impairment, Atresia of the external aud... OMIM:620186
Emanuel Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Co... OMIM:609029
Emanuel Syndrome
Aortic valve stenosis, Low-set ears, Tooth malposition, Hearing impairment, Recurrent otitis medi... ORPHA:96170
Pierre Robin Syndrome
Cor pulmonale, Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence OMIM:261800
Intellectual Developmental Disorder, Autosomal Recessive 3
Short attention span, Hyperactivity OMIM:608443
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Short attention span, Hyperactivity DECIPHER:19
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Diabetic Embryopathy
Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Cryptorchidism, Abno... ORPHA:1926
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Low-set ears, Webbed neck, Abnormal B cell morphology, Cleft lip, Cupped ear, Decreased response ... OMIM:618223
Verheij Syndrome
Retrognathia, Branchial cyst, Long philtrum, Cerebral atrophy, Intrauterine growth retardation, V... OMIM:615583
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
High, narrow palate, Webbed neck, Micrognathia, Abnormal aortic morphology, Truncus arteriosus, V... ORPHA:2516
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal aortic arch morphology, Abnormal cardiac ventricle morphology, Ab... ORPHA:2306
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Erythema, Arthrogryposis multiplex congenita, Recurrent otitis media, Hepatosplenom... OMIM:619503
Fg Syndrome Type 1
Aplasia/Hypoplasia of the corpus callosum, Facial wrinkling, Micrognathia, Open mouth, Cryptorchi... ORPHA:93932
Double Outlet Right Ventricle
Hypoplastic left heart, Aplasia/Hypoplasia of the thymus, Tetralogy of Fallot, Intestinal malrota... ORPHA:3426
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Narrow mou... ORPHA:2166
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Webbed neck, Hydranencephaly, Truncus arteriosus, Ventricular septal defect, Cleft palate OMIM:601355
Craniofacial Microsomia 2
Bifid uvula, Microtia, first degree, Microtia, third degree, Microtia, second degree, Micrognathi... OMIM:620444
Skraban-Deardorff Syndrome
Hyperplasia of the maxilla, Widely spaced teeth, Recurrent otitis media, Thick upper lip vermilio... OMIM:617616
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome
Low-set, posteriorly rotated ears, Micrognathia, Thin upper lip vermilion, Short neck, Cleft palate ORPHA:2015
Branchiootorenal Syndrome 1
Dilatated internal auditory canal, Branchial cyst, Sensorineural hearing impairment, Enlarged ves... OMIM:113650
22Q11.2 Deletion Syndrome
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Narrow mouth, Cryptorchidism, Vent... ORPHA:567
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Congenital hip dislocation, Erythema, Hearing impairment, Cleft upper lip, Umbilical hernia, Micr... OMIM:308050
Trisomy 13
Low-set ears, Abnormal helix morphology, Abnormal antihelix morphology, Cryptorchidism, Sensorine... ORPHA:3378
Genitopalatocardiac Syndrome
Low-set ears, Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Transp... OMIM:231060
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Low-set ears, Congenital shortened small intestine, Micrognathia, Neonatal death, Ventricular sep... OMIM:265380
Pierre Robin Syndrome And Oligodactyly
Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:172880
Pallister-Hall Syndrome
Auricular tag, Atresia of the external auditory canal, Natal tooth, Hypopituitarism, Central adre... ORPHA:672
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Abnormally low T cell receptor excision circle level, Lymphopenia, Lymph node hypoplasia, Otitis ... OMIM:602450
Oculoauriculofrontonasal Syndrome
Cleft lip, Conductive hearing impairment, Micrognathia, Narrow mouth, Encephalocele, Pericallosal... ORPHA:398156
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Ectopic posterior pituitary, Delayed cranial suture closure, Hypopituitarism, Decreased circulati... ORPHA:226307
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia
Conductive hearing impairment, Dermatographic urticaria, Cutaneous mastocytosis, Micrognathia, Jo... OMIM:248910
Mosaic Trisomy 14
Camptodactyly of finger, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism, Short n... ORPHA:1703
Branchiogenic Deafness Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Branchial cyst, Branchial ... ORPHA:50815
Camptodactyly Syndrome, Guadalajara Type 1
Dental malocclusion, Abnormal form of the vertebral bodies, Downturned corners of mouth, Camptoda... ORPHA:1327
Isolated Pierre Robin Syndrome
Micrognathia, Cleft palate, Glossoptosis ORPHA:718
Monosomy 22
Retrognathia, Long philtrum, Low-set, posteriorly rotated ears, Hepatosplenomegaly, Open mouth, S... ORPHA:96123
Congenital Heart Defects, Multiple Types, 9
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:620294
Microcephaly-Capillary Malformation Syndrome
Low-set ears, Optic atrophy, Hypoplasia of the maxilla, Hearing impairment, Cerebral atrophy, Hyp... OMIM:614261
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Abnormal heart morphology, Intestinal malrotation, Cryptorchidism, Truncus arterio... ORPHA:401935
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Low-set ears, Large fleshy ears, Micrognathia, Ventricular septal defect, Short neck, Hypertrophi... OMIM:616897
Auriculocondylar Syndrome 2A
Mandibular condyle aplasia, Low-set ears, Microglossia, Dental malocclusion, Hearing impairment, ... OMIM:614669
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia
Conical tooth, Hearing impairment, Widely spaced teeth, Aplasia of the inner ear, Micrognathia, A... ORPHA:90024
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal helix morphology, Hearing impairment, Open mouth, Cryptorchidism, Hypoplasia of the corp... ORPHA:453499
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Gastroesophageal reflux, Everted upper lip vermilion, Hyperplasia of the maxilla, Widely spaced t... ORPHA:513456
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type
Low-set ears, Micrognathia, Abnormal antihelix morphology, Cryptorchidism, Ventricular septal def... ORPHA:3047
Stankiewicz-Isidor Syndrome
Low-set ears, Retrognathia, Hearing impairment, Micrognathia, Cryptorchidism, Truncus arteriosus,... OMIM:617516
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Delayed eruption of permanent teeth, Congenital hypothyroidism, Tented upper lip vermilion, Verte... ORPHA:521445
Cleft-Limb-Heart Malformation Syndrome
Truncus arteriosus OMIM:215850
Mosaic Trisomy 9
Low-set ears, Elbow dislocation, Micrognathia, Endocardial fibroelastosis, Cryptorchidism, Ventri... ORPHA:99776
Distal 22Q11.2 Microdeletion Syndrome
Abnormal earlobe morphology, Ankyloglossia, Narrow mouth, Sensorineural hearing impairment, Ventr... ORPHA:261330
Auriculocondylar Syndrome 4
Hearing impairment, Question mark ear, Micrognathia, Narrow mouth, Glossoptosis, Cleft palate OMIM:620457
Distal Deletion 17Q
Optic atrophy, Abnormal form of the vertebral bodies, Premature birth, Aplasia/Hypoplasia of the ... ORPHA:1597
Cleft Palate, Isolated
Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate OMIM:119540
Conotruncal Heart Malformations
Complete atrioventricular canal defect, Truncus arteriosus, Coarctation of aorta, Transposition o... OMIM:217095
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Elevated circulating luteinizing hormone level, Dilated cardiomyopathy, Premature c... OMIM:300845
Chondrodysplasia, Blomstrand Type
Abnormal vertebral morphology, Fetal ascites, Micrognathia, Malar flattening, Short ribs, Preduct... OMIM:215045
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome
Abnormality of the dentition, Microretrognathia, Camptodactyly of finger, Low-set, posteriorly ro... ORPHA:2994
Cleft Palate-Lateral Synechia Syndrome
Oral synechia, Micrognathia, Narrow mouth, Everted lower lip vermilion, Cleft palate ORPHA:2016
Gm1 Gangliosidosis
Low-set ears, Cherry red spot of the macula, Hepatosplenomegaly, Narrow mouth, Ventricular septal... ORPHA:354
Isolated Cleft Lip
Conductive hearing impairment, Velopharyngeal insufficiency, Non-midline cleft of the upper lip, ... ORPHA:199302
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Hearing impairment, Thoracic hemivertebrae, Micrognathia, Hypoplasia of the corpus callosum, Agen... ORPHA:508498
Holoprosencephaly
Aplasia/Hypoplasia of the corpus callosum, Abnormality of the spleen, Abnormal antihelix morpholo... ORPHA:2162
Hemifacial Atrophy, Progressive
Dental malocclusion, Delayed eruption of teeth, Horner syndrome, Tongue atrophy, Kyphosis, Short ... OMIM:141300
Dyssegmental Dysplasia, Silverman-Handmaker Type
Low-set ears, Anisospondyly, Increased placental thickness, Pterygium, Abnormal heart morphology,... ORPHA:1865
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... ORPHA:352665
Lethal Congenital Contracture Syndrome 10
Low-set ears, Narrow palate, Increased variability in muscle fiber diameter, Long philtrum, Stiff... OMIM:617022
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome
Low-set ears, Long philtrum, Umbilical hernia, Cerebral atrophy, Micrognathia, Cryptorchidism, Ma... ORPHA:171839
Congenital Disorder Of Glycosylation, Type Iig
Low-set ears, Shallow acetabular fossae, Giant platelets, Micrognathia, Narrow mouth, Cryptorchid... OMIM:611209
Nuchal Bleb, Familial
Cystic hygroma, Fetal cystic hygroma, Stillbirth OMIM:257350
Bor Syndrome
Atresia of the external auditory canal, Hearing impairment, Retrognathia, Branchial cyst, Stenosi... ORPHA:107
Charge Syndrome
Low-set ears, Lymphopenia, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Ventri... OMIM:214800
Conductive Deafness-Malformed External Ear Syndrome
Low-set ears, Conductive hearing impairment, Hypogonadism, Stenosis of the external auditory cana... ORPHA:3216
X-Linked Mandibulofacial Dysostosis
Webbed neck, Conductive hearing impairment, Hypoplasia of the zygomatic bone, Low-set, posteriorl... ORPHA:1131
7Q31 Microdeletion Syndrome
Low-set ears, Hypoplasia of the maxilla, Hypoplasia of the olfactory bulb, Skeletal muscle atroph... ORPHA:251061
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Branchial cyst, Secondary microcephaly, Hypoplasia of the corpus cal... ORPHA:508488
Congenital Disorder Of Glycosylation, Type Ik
Cerebral atrophy, Cardiomyopathy, Hypogonadism, Intrauterine growth retardation, Micrognathia, Sp... OMIM:608540
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Microtia, first degree, Widely spaced teeth, Aplasia of the inner ear, Peg-shaped ... OMIM:610706
Classic Multiminicore Myopathy
Generalized amyotrophy, Limited neck flexion, Microretrognathia, Right ventricular failure, Muscu... ORPHA:324604
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Recurrent ... OMIM:619472
Atelis Syndrome 1
Carious teeth, Long philtrum, Leukopenia, Glue ear, Ventricular septal defect, Lumbar kyphosis, H... OMIM:620184
Alg3-Cdg
Arthrogryposis multiplex congenita, Hearing impairment, Cardiomyopathy, Hypoplasia of the pons, H... ORPHA:79321
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Aortic root aneurysm, Large fleshy ears, Macrocephaly at... ORPHA:280633
Digeorge Syndrome
Low-set ears, Recurrent otitis media, Micrognathia, Intervertebral disk degeneration, Ovarian cys... OMIM:188400
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Joint contracture of the hand, Narrow mouth, Cryptorchidism, Sensorineural hearing ... OMIM:235510
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome
Ankle flexion contracture, Gastroesophageal reflux, Dental crowding, Branchial cyst, Cryptorchidi... ORPHA:435938
Isolated Thyroid-Stimulating Hormone Deficiency
Increased pituitary glycoprotein hormone alpha subunit level, Facial edema, Increased circulating... ORPHA:90674
Mirror Polydactyly-Vertebral Segmentation-Limbs Defects Syndrome
Aplasia of the thymus, Duodenal atresia ORPHA:3004
19P13.3 Microduplication Syndrome
Low-set ears, Precocious puberty, Gastroesophageal reflux, Cerebral atrophy, Intrauterine growth ... ORPHA:447980
Pallister-Hall Syndrome
Natal tooth, Atresia of the external auditory canal, Cryptorchidism, Neonatal death, Ventricular ... OMIM:146510
Trisomy 1Q
Low-set ears, Abnormality of the outer ear, Microretrognathia, Abnormal rib morphology, Camptodac... ORPHA:261344
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Micrognathia, Sensorineural hearing impairment, Atrial s... ORPHA:314588
Hypothyroidism Due To Tsh Receptor Mutations
Elevated circulating thyroid-stimulating hormone concentration, Edema, Umbilical hernia, Decrease... ORPHA:90673
Branchiootic Syndrome 1
Low-set ears, Dilatated internal auditory canal, Branchial fistula, Cupped ear, Sensorineural hea... OMIM:602588
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Joint contracture of the hand, Natal tooth, Micrognathia, Ventricular septal defect... OMIM:300373
Sialidosis Type 2
Skeletal muscle atrophy, Hearing impairment, Umbilical hernia, Ascites, Splenomegaly, Hepatomegal... ORPHA:87876
Fryns Syndrome
Micrognathia, Congenital diaphragmatic hernia, Cryptorchidism, Agenesis of corpus callosum, Short... ORPHA:2059
Fibrochondrogenesis 1
Low-set ears, Thin ribs, Joint contracture of the hand, Narrow mouth, Short neck, Anterior rib cu... OMIM:228520
3-Hydroxyisobutyric Aciduria
Cerebral cortical atrophy, Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Cerebral cal... ORPHA:939
Velocardiofacial Syndrome
Interrupted aortic arch, Right aortic arch with mirror image branching, Velopharyngeal insufficie... OMIM:192430
Mandibulofacial Dysostosis-Microcephaly Syndrome
Low-set ears, Abnormality of the outer ear, Absent tragus, Hypoplasia of the maxilla, Conductive ... ORPHA:79113
Ankyloblepharon Filiforme Adnatum-Imperforate Anus Syndrome
Cryptorchidism, Non-midline cleft of the upper lip, Cleft palate, Tooth agenesis ORPHA:1074
Catel-Manzke Syndrome
Oral synechia, Low-set, posteriorly rotated ears, Micrognathia, Malar flattening, Ventricular sep... ORPHA:1388
Monosomy 18Q
Aortic valve stenosis, Bilateral conductive hearing impairment, Open mouth, Mitral regurgitation,... ORPHA:1600
Auriculocondylar Syndrome 1
Mandibular condyle aplasia, Low-set ears, Dental malocclusion, Cupped ear, Cleft at the superior ... OMIM:602483
Femoral-Facial Syndrome
Low-set ears, Long philtrum, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Cryptorchid... ORPHA:1988
Genetic Transient Congenital Hypothyroidism
Thyroid defect in oxidation and organification of iodide, Elevated circulating thyroid-stimulatin... ORPHA:226316
Axial Mesodermal Dysplasia Spectrum
Abnormality of the spleen, Micrognathia, Congenital diaphragmatic hernia, Abnormal gastrointestin... ORPHA:1834
Vitamin K Antagonist Embryofetopathy
Optic atrophy, Hearing impairment, Myelomeningocele, Punctate vertebral calcifications, Intrauter... ORPHA:1914
Multiple Pterygium Syndrome, Escobar Variant
Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Micrognathia, Dysp... OMIM:265000
Osteopathia Striata-Cranial Sclerosis Syndrome
Aortic valve stenosis, Low-set ears, High, narrow palate, Bifid uvula, Conductive hearing impairm... ORPHA:2780
22Q11.2 Duplication Syndrome
Interrupted aortic arch, Hypoplastic left heart, Hearing impairment, Aplasia/Hypoplasia of the th... ORPHA:1727
Catifa Syndrome
Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Campt... OMIM:618761
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Narrow mouth, Abnormal cranial nerve morp... ORPHA:138
Au-Kline Syndrome
Aortic root aneurysm, Supernumerary nipple, Open mouth, Cryptorchidism, Sensorineural hearing imp... OMIM:616580
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
High, narrow palate, Increased variability in muscle fiber diameter, Secondary microcephaly, Type... OMIM:612949
Isotretinoin Syndrome
Abnormality of the outer ear, Sacral dimple, Micrognathia, Spina bifida occulta, Biparietal narro... ORPHA:2305
Tarp Syndrome
Low-set ears, Micrognathia, Neonatal death, Atrial septal defect, High palate, Premature rupture ... OMIM:311900
Sweeney-Cox Syndrome
Low-set ears, Crumpled ear, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, Narro... OMIM:617746
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Macrotia, Recurrent otitis media, Tetralogy of Fallot, Micrognathia, Cryptorchidism, Cyanosis, Pr... ORPHA:3304
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Conductive hearing impairment, Velopharyngeal ins... ORPHA:199306
Lethal Osteosclerotic Bone Dysplasia
Low-set ears, Retrognathia, Micrognathia, Gingival overgrowth, Median cleft palate, Short neck, M... ORPHA:1832
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Hypothyroidism, Lymphadenopathy, Co... ORPHA:83471
Hypertelorism, Microtia, Facial Clefting Syndrome
Abnormal vertebral morphology, Tessier cleft, Conductive hearing impairment, Atresia of the exter... OMIM:239800
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Fragile skin, Macrocephaly, Polyhydramnios, Flexion c... OMIM:612138
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Low-set ears, Hearing impairment, Dehydration, Micrognathia, Oligohydramnios, Patent foramen oval... OMIM:208085
Femoral-Facial Syndrome
Low-set ears, Micrognathia, Humeroradial synostosis, Encephalocele, Limited elbow movement, Agene... OMIM:134780
Meier-Gorlin Syndrome 8
Low-set ears, Bilateral cryptorchidism, Intrauterine growth retardation, Micrognathia, Narrow mou... OMIM:617564
Acrocardiofacial Syndrome
Low-set ears, Cerebral cortical atrophy, Joint dislocation, Cleft upper lip, Camptodactyly of fin... ORPHA:2008
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay
Mandibular prognathia, Platelet anisocytosis, Hearing impairment, Umbilical hernia, Wide mouth, P... OMIM:620475
Smith-Magenis Syndrome
Abnormality of the outer ear, Abnormality of the dentition, Abnormal nerve conduction velocity, H... OMIM:182290
Distal 22Q11.2 Microduplication Syndrome
Low-set ears, Abnormal helix morphology, Micrognathia, Abnormal antihelix morphology, Cryptorchid... ORPHA:261337
Achondrogenesis Type 1B
Long philtrum, Umbilical hernia, Abnormal rib morphology, Macrocephaly, Micrognathia, Short neck,... ORPHA:93298
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity
Basal ganglia calcification, Cerebral calcification, Cryptorchidism, Partial absence of the septu... OMIM:620371
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Facial wrinkling, Micrognathia, Cryptorchidism, Sensorineural hear... OMIM:305450
Wilson-Turner Syndrome
Malar prominence, Micrognathia, Cryptorchidism, Thin upper lip vermilion, Hypogonadotropic hypogo... ORPHA:3459
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Abnormal form of... ORPHA:2876
Achondrogenesis, Type Ib
Umbilical hernia, Absent or minimally ossified vertebral bodies, Malar flattening, Short ribs, Br... OMIM:600972
Chromosome 15Q14 Deletion Syndrome
Low-set ears, Cleft lip, Tented upper lip vermilion, Ventricular septal defect, Atrial septal def... OMIM:616898
Congenital Disorder Of Glycosylation, Type Il
Low-set ears, Hip dislocation, Global brain atrophy, Long philtrum, Cerebral atrophy, Ascites, Pe... OMIM:608776
T-Cell Immunodeficiency With Thymic Aplasia
Abnormally low T cell receptor excision circle level, Lymphopenia, Hepatosplenomegaly, Aplasia of... OMIM:242700
Microphthalmia, Syndromic 9
Low-set ears, Hypoplastic left atrium, Right aortic arch with mirror image branching, Multilobula... OMIM:601186
De Barsy Syndrome
Low-set ears, Decreased muscle mass, Prominent veins on trunk, Narrow mouth, Cryptorchidism, Exce... ORPHA:2962
Acitretin/Etretinate Embryopathy
Cupped ear, Third degree atrioventricular block, Premature birth, Atrioventricular canal defect, ... ORPHA:40366
Parc Syndrome
Microretrognathia, Cleft palate OMIM:600331
Greenberg Dysplasia
Low-set ears, Fractured rib, Supernumerary vertebral ossification centers, Hepatosplenomegaly, Mi... OMIM:215140
Glycine Encephalopathy 1
Death in infancy, Irritability, Aggressive behavior, Hyperactivity, Restlessness, Impulsivity OMIM:605899
Achondrogenesis Type 1A
Long philtrum, Umbilical hernia, Macrocephaly, Micrognathia, Multiple rib fractures, Short neck, ... ORPHA:93299
Toriello-Carey Syndrome
Low-set ears, Hearing impairment, Micrognathia, Cryptorchidism, Hypoplasia of the corpus callosum... ORPHA:3338
Adams-Oliver Syndrome 6
Truncus arteriosus, Splenomegaly, Esophageal varix, Ventricular septal defect OMIM:616589
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome
Low-set ears, Cerebral cortical atrophy, Hearing impairment, Retrognathia, Aplasia/Hypoplasia of ... ORPHA:505237
Achondrogenesis
Long philtrum, Umbilical hernia, Macrocephaly, Micrognathia, Short neck, Thickened nuchal skin fo... ORPHA:932
Warsaw Breakage Syndrome
Cupped ear, Hearing impairment, Optic disc coloboma, Tetralogy of Fallot, Intrauterine growth ret... OMIM:613398
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Hearing impairment, Recurrent otitis media, Genu valgum, Sens... OMIM:253220
Zechi-Ceide Syndrome
Low-set ears, Cerebellar vermis hypoplasia, Abnormal helix morphology, Cleft lip, Conductive hear... ORPHA:217017
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Low-set ears, Aortic root aneurysm, Genu valgum, Micrognathia, Narrow mouth, Congenital diaphragm... OMIM:245600
Saethre-Chotzen Syndrome
Low-set ears, Hearing impairment, Prominent crus of helix, Delayed cranial suture closure, Open b... ORPHA:794
Kallmann Syndrome-Heart Disease Syndrome
Aortic regurgitation, Pulmonary artery hypoplasia, Dilated cardiomyopathy, Congestive heart failu... ORPHA:2326
Distal Xq28 Microduplication Syndrome
Epistaxis, Hypoplasia of the maxilla, Predominantly lower limb lymphedema, Dental crowding, Absen... ORPHA:293939
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Conductive hearing impairment, Congestive heart failure, Recurrent otitis m... ORPHA:423461
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum
Narrow palate, Gastroesophageal reflux, Hearing impairment, Retrognathia, Long philtrum, Macrocep... OMIM:620250
Lateral Meningocele Syndrome
Low-set ears, Decreased muscle mass, Micrognathia, Cryptorchidism, Ventricular septal defect, Bic... OMIM:130720
Alg9-Cdg
Low-set ears, Hypoplasia of the musculature, Delayed cranial suture closure, Large fleshy ears, M... ORPHA:79328
Even-Plus Syndrome
Oligohydramnios, Patent foramen ovale, Agenesis of corpus callosum, Dysplastic corpus callosum, H... OMIM:616854
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cerebral cortical atrophy, Tooth agenesis, Tetralogy of Fallot, Micrognathia, Abnormal lower lip ... ORPHA:1166
Verloove Vanhorick-Brubakk Syndrome
Low-set ears, Abnormal form of the vertebral bodies, Atresia of the external auditory canal, Abno... ORPHA:3429
Craniosynostosis, Herrmann-Opitz Type
Webbed neck, Intrauterine growth retardation, Micrognathia, Oligohydramnios, Abnormal antihelix m... ORPHA:2145
Van Maldergem Syndrome 1
Atresia of the external auditory canal, Micrognathia, Irregular dentition, Hypoplasia of the corp... OMIM:601390
Cowden Syndrome 5
Hypoplasia of the maxilla, Colonic diverticula, Thyroid adenoma, Hearing impairment, Subcutaneous... OMIM:615108
Van Esch-O'Driscoll Syndrome
Bifid uvula, Retrognathia, Downturned corners of mouth, Cerebral atrophy, Intrauterine growth ret... OMIM:301030
Van Maldergem Syndrome 2
Hearing impairment, Atresia of the external auditory canal, Micrognathia, Irregular dentition, Hy... OMIM:615546
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Upper lim... ORPHA:353
Johnson Neuroectodermal Syndrome
Carious teeth, Conductive hearing impairment, Atresia of the external auditory canal, Tetralogy o... ORPHA:2316
Infantile Sialic Acid Storage Disease
Cerebral atrophy, Congestive heart failure, Ascites, Gingival overgrowth, Splenomegaly, Death in ... OMIM:269920
Mycophenolate Mofetil Embryopathy
Tessier cleft, Bifid thoracic vertebrae, Atresia of the external auditory canal, Hearing impairme... ORPHA:268249
Fetal Akinesia Deformation Sequence 2
Low-set ears, Broad neck, Micrognathia, Tented upper lip vermilion, Cryptorchidism, High palate, ... OMIM:618388
Fetal Gaucher Disease
Arthrogryposis multiplex congenita, Stillbirth, Low-set, posteriorly rotated ears, Abnormality of... ORPHA:85212
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Abnormality of the costochondral junction, Hepatosplenomegaly, Micrognathia, Large placenta, Narr... ORPHA:96334
Weaver-Williams Syndrome
Protruding ear, Narrow mouth, Cleft palate ORPHA:3448
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Aortic root aneurysm, Mitral regurgitation, Cryptorchidism, Ventricular septal defe... OMIM:617506
Nabais Sa-De Vries Syndrome, Type 2
Low-set ears, Hypoplastic left heart, Gastroesophageal reflux, Micrognathia, Polyhydramnios, Bila... OMIM:618829
Familial Thyroid Dyshormonogenesis
Thyroid defect in oxidation and organification of iodide, Facial edema, Elevated circulating thyr... ORPHA:95716
Cowden Syndrome 6
Hypoplasia of the maxilla, Colonic diverticula, Thyroid adenoma, Hearing impairment, Subcutaneous... OMIM:615109
Myhre Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Enlarged vertebral pedicles, Narrow mout... OMIM:139210
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Macrocephaly, Narrow mouth, Malar flattening, Atrial se... ORPHA:261295
Heart And Brain Malformation Syndrome
Low-set ears, Hypoplasia of the corpus callosum, Ventricular septal defect, Everted lower lip ver... OMIM:616920
Cutis Laxa, Autosomal Recessive, Type Ic
Micrognathia, Death in childhood, Breech presentation, Periorbital edema, Rectal prolapse, Gastro... OMIM:613177
Branchiogenic-Deafness Syndrome
Branchial fistula, Atresia of the external auditory canal, Branchial cyst, Sensorineural hearing ... OMIM:609166
Congenital Syphilis
Hearing impairment, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatosplenomegaly,... ORPHA:499009
Tetrasomy 15Q26
Low-set ears, Microretrognathia, Cupped ear, Intrauterine growth retardation, Hypoplastic aortic ... OMIM:614846
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Protruding tongue, Cryptorchidism, Sensorineural hearing impairment, Ventricular se... OMIM:301040
Simpson-Golabi-Behmel Syndrome, Type 1
Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Congenital diaphragma... OMIM:312870
Pelvis-Shoulder Dysplasia
Hydranencephaly, Microglossia, Abnormal form of the vertebral bodies, Camptodactyly of finger, Lu... ORPHA:2839
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Hand muscle weakness, Type 1 muscle fiber predominance, Myopathy, Triang... ORPHA:98915
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Lambert Syndrome
Intrauterine growth retardation, Branchial anomaly, Malar flattening, Ventricular septal defect, ... ORPHA:1296
Noonan Syndrome 2
Low-set ears, Micrognathia, Cryptorchidism, Mitral valve prolapse, Ventricular septal defect, Low... OMIM:605275
Isotretinoin Embryopathy-Like Syndrome
Anotia, Micrognathia, Conotruncal defect, Cleft palate, Microtia OMIM:243440
Mesomelic Limb Shortening And Bowing
Micrognathia, Retrognathia, Cleft palate OMIM:249710
Hennekam-Beemer Syndrome
Optic atrophy, Hypotension, Mastocytosis, Conductive hearing impairment, Hearing impairment, Eryt... ORPHA:2135
Tetraamelia-Multiple Malformations Syndrome
Optic atrophy, Tracheal stenosis, Micrognathia, Narrow mouth, Cryptorchidism, Agenesis of corpus ... ORPHA:3301
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Long philtrum, Narrow mouth, Cryptorchidism, Coarctation of aorta, Atrial septal de... OMIM:615502
Acrocephalopolydactyly
Genu recurvatum, Hepatosplenomegaly, Short neck, Cystic hygroma, Microtia ORPHA:221054
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Aortic root aneurysm, Hearing impairment, Cryptorchidism, Hypoplasia of the corpus ... OMIM:607872
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Low-set ears, Dysplastic sacrum, Death in childhood, Death in infancy, Short ribs, Cardiomegaly, ... OMIM:613320
Arthrogryposis, Distal, Type 1C
Bifid uvula, Cleft lip, Retrognathia, Pursed lips, Increased nuchal translucency, Narrow mouth, C... OMIM:619110
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Cleft palate, Natal tooth, Abnormal mandible morphology, Torticollis OMIM:217150
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Adrenal cortical sclerosis, Lymphopenia, Autoimmune hemolytic anemia, Splenomegaly, Reduced red c... OMIM:102700
Alg8-Cdg
Low-set ears, Cerebral cortical atrophy, Leukoencephalopathy, Optic atrophy, Abnormality of subcu... ORPHA:79325
Mullegama-Klein-Martinez Syndrome
Low-set ears, Atresia of the external auditory canal, Micrognathia, Congenital diaphragmatic hern... OMIM:301022
Rubinstein-Taybi Syndrome 1
Low-set ears, Hearing impairment, Delayed cranial suture closure, Micrognathia, Narrow mouth, Cry... OMIM:180849
Scimitar Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Ventricular septal defect, At... ORPHA:185
Mulibrey Nanism
Microglossia, Dental malocclusion, Dental crowding, Congestive heart failure, Ascites, Intrauteri... OMIM:253250
Cowden Syndrome 1
Hearing impairment, Lymphopenia, Micrognathia, Narrow mouth, Ovarian cyst, High palate, Hypoplasi... OMIM:158350
Kagami-Ogata Syndrome
Thin ribs, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Premature birth, Micrognathia,... OMIM:608149
Oculoauriculovertebral Spectrum With Radial Defects
Abnormality of the middle ear ossicles, Conductive hearing impairment, Atresia of the external au... ORPHA:2549
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Abnormal aortic arch morphology, Carious teeth, Arteriovenous malformation, Hypoplasia of the zyg... ORPHA:1110
Fetal Akinesia Deformation Sequence 1
Low-set ears, Thin ribs, Decreased muscle mass, Micrognathia, Narrow mouth, Cryptorchidism, Hip c... OMIM:208150
Ciliary Dyskinesia, Primary, 37
Hearing impairment, Goiter, Situs inversus totalis, Right aortic arch, Hypothyroidism, Dextrocardia OMIM:617577
X-Linked Intellectual Disability, Van Esch Type
Coronal craniosynostosis, Male hypogonadism, Retrognathia, Absence of secondary sex characteristi... ORPHA:163976
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Micrognathia, Sensorineural hearing impairment, Bicuspid aortic valve, Short neck, ... OMIM:612474
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Hearing impairment, Delayed cranial suture closure, Thoracic hemivertebrae, Microgn... OMIM:268310
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Webbed neck, Interrupted aortic arch, Generalized edema, Tetralogy of Fallot, Right... OMIM:617478
Lateral Meningocele Syndrome
Low-set ears, Craniofacial hyperostosis, Atresia of the external auditory canal, Micrognathia, Cr... ORPHA:2789
Truncus Arteriosus
Abnormal coronary artery morphology, Ventricular septal defect, Single coronary artery origin, At... ORPHA:3384
Contractures-Developmental Delay-Pierre Robin Syndrome
High, narrow palate, Peripheral pulmonary artery stenosis, Abnormality of frontal sinus, Microgna... ORPHA:436003
Mandibulofacial Dysostosis With Alopecia
Low-set ears, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impairment, Dental crowdi... OMIM:616367
Intellectual Developmental Disorder, Autosomal Dominant 43
Gastroesophageal reflux, Umbilical hernia, Gingival overgrowth, Narrow mouth, Hypoplasia of the c... OMIM:616977
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hearing impairment, Secondary microcephaly, Micrognathia, Narrow mouth, Hip contracture, Hypoplas... OMIM:300868
Hartnup Disorder
Attention deficit hyperactivity disorder, Emotional lability, Hyperactivity OMIM:234500
Robinow Syndrome, Autosomal Dominant 2
Hearing impairment, Micrognathia, Cleft soft palate, Cryptorchidism, Sensorineural hearing impair... OMIM:616331
Perching Syndrome
Cyanosis, Dysphagia, Joint contracture, Camptodactyly, High palate, Scoliosis OMIM:617055
Turnpenny-Fry Syndrome
Low-set ears, Narrow mouth, Hypoplasia of the corpus callosum, Mitral valve prolapse, Atrial sept... OMIM:618371
Branchiootic Syndrome
Abnormality of the outer ear, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:52429
Orofaciodigital Syndrome Xiv
Low-set ears, Natal tooth, Occipital encephalocele, Micrognathia, Cryptorchidism, Hypoplasia of t... OMIM:615948
Intellectual Developmental Disorder, Autosomal Dominant 73
Low-set ears, Premature adrenarche, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Cry... OMIM:620450
Craniofacial Microsomia 1
Occipital encephalocele, Atresia of the external auditory canal, Unilateral external ear deformit... OMIM:164210
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency
Low-set ears, Broad neck, Livedo, Bilateral cryptorchidism, Decreased response to growth hormone ... OMIM:618336
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Cleft upper lip, Widely spaced teeth, Supernumerary nipple, Tented upper lip vermil... OMIM:612530
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Low-set ears, Velopharyngeal insufficiency, Micrognathia, Ventricular septal defect, Atrial septa... OMIM:620663
X-Linked Intellectual Disability, Abidi Type
Hearing impairment, Decreased testicular size, Protruding ear, Non-midline cleft of the upper lip... ORPHA:85273
Gm1 Gangliosidosis Type 1
Platyspondyly, Low-set ears, Diffuse white matter abnormalities, T2 hypointense basal ganglia, He... ORPHA:79255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Low-set ears, Type II lissencephaly, Encephalocele, Hypoplasia of the corpus callosum, Death in c... OMIM:614643
Intellectual Developmental Disorder, Autosomal Dominant 1
Low-set ears, Secondary microcephaly, Micrognathia, Open mouth, Low posterior hairline, Everted l... OMIM:156200
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Hearing impairment, Micrognathia, Congenital diaphragmatic hernia,... ORPHA:280
Tetrasomy 5P
Low-set ears, Long philtrum, Congestive heart failure, Micrognathia, Cyanosis, Redundant neck ski... ORPHA:3309
Hamel Cerebro-Palato-Cardiac Syndrome
Cupped ear, Micrognathia, Narrow mouth, Malar flattening, Atrial septal defect, Cleft palate ORPHA:93946
Schneckenbecken Dysplasia
Platyspondyly, Stillbirth, Umbilical hernia, Macrocephaly, Malar flattening, Short ribs, Narrow v... OMIM:269250
Short Stature And Facioauriculothoracic Malformations
Low-set ears, Cupped ear, Cleft upper lip, Cervical ribs, Abnormal odontoid process morphology, V... OMIM:609654
Congenital Heart Block
Endocardial fibroelastosis, Patent ductus arteriosus, Third degree atrioventricular block, Pleura... ORPHA:60041
Hemifacial Microsomia With Radial Defects
Conductive hearing impairment, Atresia of the external auditory canal, Orofacial cleft, Cleft pal... OMIM:141400
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Elbow dislocation, Micrognathia, Cryptorchidism, Hip contracture, Agenesis of corpu... OMIM:210710
Fliedner-Zweier Syndrome
Long philtrum, Hypoplastic aortic arch, Hypoplasia of the corpus callosum, Ventricular septal def... OMIM:620511
Cranioectodermal Dysplasia 2
Low-set ears, Micrognathia, Short neck, Ectodermal dysplasia, Everted lower lip vermilion, Atrial... OMIM:613610
Transaldolase Deficiency
Premature skin wrinkling, Biventricular hypertrophy, Hepatosplenomegaly, Telangiectasia, Coarctat... ORPHA:101028
Congenital Myopathy 22B, Severe Fetal
Low-set ears, Thin ribs, Hypoplasia of the musculature, Micrognathia, Limb muscle weakness, Hip c... OMIM:620369
Loeys-Dietz Syndrome 5
Aortic root aneurysm, Decreased muscle mass, Cleft soft palate, Mitral regurgitation, Reduced sub... OMIM:615582
Difference Of Sex Development-Intellectual Disability Syndrome
Downturned corners of mouth, Low-set, posteriorly rotated ears, Hypogonadism, Genu valgum, Low po... ORPHA:2983
Holoprosencephaly 13, X-Linked
Low-set ears, Alobar holoprosencephaly, Hearing impairment, Thoracic hemivertebrae, Micrognathia,... OMIM:301043
Tarp Syndrome
Hearing impairment, Extramedullary hematopoiesis, Micrognathia, Abnormal antihelix morphology, Cr... ORPHA:2886
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Limited neck flexion, Cerebral vasculitis, Goiter, Leukocytosis, Hashimoto thyroiditis, Hypothyro... ORPHA:83601
Auriculocondylar Syndrome
Mandibular condyle aplasia, Abnormality of the crus of the helix, Bifid uvula, Microglossia, Dent... ORPHA:137888
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Congenitally corrected t... OMIM:618300
Distal Deletion 12Q
Low-set ears, Bilateral conductive hearing impairment, Prominent ear helix, Micrognathia, Short n... ORPHA:96149
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Cryptorchidism, Death in infancy, Fetal akin... OMIM:618815
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Open mouth, Narrow mouth, Cryptorchidism, Ventricular septal defe... OMIM:300967
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Low-set ears, Microretrognathia, Hypoplasia of the zygomatic bone, Sacral dimple, Aganglionic meg... OMIM:613603
Gaucher Disease, Perinatal Lethal
Low-set ears, Everted upper lip vermilion, Hepatosplenomegaly, Micrognathia, Open mouth, Narrow m... OMIM:608013
Split-Hand/Foot Malformation 3
Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Abnormal pinna morpholog... OMIM:246560
Braddock-Carey Syndrome 2
Atresia of the external auditory canal, Retrognathia, Hearing impairment, Thrombocytopenia, Wide ... OMIM:619981
Diprosopus
Non-midline cleft of the upper lip, Abnormal cardiac septum morphology, Anencephaly, Abnormal pin... ORPHA:1681
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Low-set ears, Occipital encephalocele, Atresia of the external auditory canal, Type II lissenceph... OMIM:236670
Cerebrofacioarticular Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the maxilla, Anal stenosis, Conductive hearing impair... ORPHA:314679
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Duodenal stenosis, Camptodactyly of finger, Micrognathia, Polyhydramnios, Patent ductus arteriosu... ORPHA:2547
Klippel-Feil Syndrome 2, Autosomal Recessive
Conductive hearing impairment, Cleft upper lip, Sensorineural hearing impairment, Ventricular sep... OMIM:214300
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Conductive hearing impairment, Atresia of the external auditory canal, Increased mean corpuscular... OMIM:300946
Lymphatic Malformation 6
Hearing impairment, Micrognathia, Atrial septal defect, Periorbital edema, Abnormal pinna morphol... OMIM:616843
Aortic Arch Anomaly With Peculiar Facies And Impaired Intellectual Development
Microcephaly, Right aortic arch with mirror image branching OMIM:107500
Down Syndrome
Shallow acetabular fossae, Protruding tongue, Acute megakaryocytic leukemia, Ventricular septal d... OMIM:190685
6Q16 Microdeletion Syndrome
Low-set ears, Retrognathia, Micrognathia, Abnormal ear morphology, Macrocephaly, Microtia ORPHA:171829
Diamond-Blackfan Anemia 6
Ventricular hypertrophy, Bifid uvula, Increased mean corpuscular volume, Retrognathia, Cleft uppe... OMIM:612561
Treacher Collins Syndrome 3
Conductive hearing impairment, Hypoplasia of the zygomatic bone, Micrognathia, Malar flattening, ... OMIM:248390
Gm1-Gangliosidosis, Type I
Dilated cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Abnormal heart val... OMIM:230500
Arthrogryposis, Renal Dysfunction, And Cholestasis 2
Low-set ears, Death in infancy, Ventricular septal defect, Microcephaly, Nephrogenic diabetes ins... OMIM:613404
Postaxial Acrofacial Dysostosis
Conductive hearing impairment, Cupped ear, Camptodactyly of finger, Low-set, posteriorly rotated ... ORPHA:246
Intellectual Developmental Disorder, X-Linked 112
Gastroesophageal reflux, Cupped ear, Volvulus, Abnormal heart morphology, Right aortic arch, Cryp... OMIM:301111
Abruzzo-Erickson Syndrome
Protruding ear, Cleft palate, Hearing impairment, Macrotia OMIM:302905
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia
Long philtrum, Micrognathia, Malar flattening, Sensorineural hearing impairment, Glossoptosis, Cl... ORPHA:166100
Mgat2-Cdg
Gastroesophageal reflux, Prominent antihelix, Dental crowding, Abnormal earlobe morphology, Low-s... ORPHA:79329
Peters Plus Syndrome
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Cryptorchidism, Short neck, Anal atresia... ORPHA:709
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Low-set ears, Bifid uvula, Cleft lip, Downturned corners of mouth, Long philtrum, Narrow mouth, M... OMIM:618089
17Q24.2 Microdeletion Syndrome
Broad neck, Tooth malposition, Abnormality of the ankle, Otosclerosis, Recurrent otitis media, Ab... ORPHA:529962
Meier-Gorlin Syndrome 1
Low-set ears, Thin ribs, Joint contracture of the hand, Elbow dislocation, Hearing impairment, At... OMIM:224690
Congenital Myasthenic Syndrome
Low-set ears, Muscle fiber atrophy, Sensorineural hearing impairment, High palate, Dysphagia, Spi... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Low-set ears, Muscle fiber atrophy, Sensorineural hearing impairment, High palate, Dysphagia, Spi... ORPHA:98914
Neuraminidase Deficiency
Facial edema, Skeletal muscle atrophy, Cardiomyopathy, Cherry red spot of the macula, Ascites, Sp... OMIM:256550
Pendred Syndrome
Hyperparathyroidism, Goiter, Vertigo, Tracheal stenosis, Thyroid carcinoma, Sensorineural hearing... ORPHA:705
Vacterl With Hydrocephalus
Abnormality of the outer ear, Absence of the sacrum, Microtia, third degree, Abnormal form of the... ORPHA:3412
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Posteriorly placed anus, Ventricular septal defect, Atrial septal defect, Dextrocar... OMIM:306955
Platyspondylic Dysplasia, Torrance Type
Platyspondyly, Low-set ears, Polyhydramnios, Malar flattening, Abnormal carpal morphology, Hydrop... ORPHA:85166
Hennekam Syndrome
Low-set ears, Arteriovenous malformation, Lymphopenia, Narrow mouth, Pulmonary lymphangiectasia, ... ORPHA:2136
Coxoauricular Syndrome
Hip dislocation, Hearing impairment, Microtia OMIM:122780
Microcephaly 6, Primary, Autosomal Recessive
Small cerebral cortex, Microcephaly, Microtia OMIM:608393
Distal Deletion 15Q
Low-set ears, Hearing impairment, Genu valgum, Micrognathia, Congenital diaphragmatic hernia, Cry... ORPHA:1596
Yunis-Varon Syndrome
Low-set ears, Hearing impairment, Broad secondary alveolar ridge, Micrognathia, Cryptorchidism, A... ORPHA:3472
Klippel-Trénaunay Syndrome
Gastrointestinal hemorrhage, Pulmonary embolism, Edema, Congestive heart failure, Microcytic anem... ORPHA:90308
Treacher Collins Syndrome 1
Conductive hearing impairment, Atresia of the external auditory canal, Abnormal heart morphology,... OMIM:154500
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Low-set ears, Retrognathia, Hypoplasia of the corpus callosum, Microcephaly, Deep philtrum, Mandi... OMIM:620535
Branchiooculofacial Syndrome
Low-set ears, Hearing impairment, Supernumerary nipple, Premature graying of hair, Ectopic thymus... OMIM:113620
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Cerebellar vermis hypoplasia, Intrauterine growth retardation, Microgn... ORPHA:284417
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Crumpled ear, Symphalangism of the thumb, Cupped ear, Hearing impairment, Mandibular prognathia, ... OMIM:620494
Mesomelic Dwarfism-Cleft Palate-Camptodactyly Syndrome
Retrognathia, Low-set, posteriorly rotated ears, Thin vermilion border, Overfolded helix, Cleft p... ORPHA:2631
Long-Olsen-Distelmaier Syndrome
Low-set ears, Premature rupture of membranes, Dilated cardiomyopathy, Secundum atrial septal defe... OMIM:620609
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Low-set ears, Platyspondyly, Natal tooth, Long philtrum, Micrognathia, Prot... ORPHA:50945
Acrocraniofacial Dysostosis
Abnormality of the middle ear ossicles, Conductive hearing impairment, Abnormal form of the verte... ORPHA:949
Combined Oxidative Phosphorylation Defect Type 27
Hearing impairment, Ragged-red muscle fibers, Hypoplasia of the corpus callosum, Nonimmune hydrop... ORPHA:477774
Microphthalmia, Syndromic 2
Aortic valve stenosis, Cryptorchidism, Hypoplasia of the corpus callosum, Sensorineural hearing i... OMIM:300166
Tetraamelia Syndrome 2
Low-set ears, Microretrognathia, Absent nipple, Ankyloglossia, Micrognathia, Ventricular septal d... OMIM:618021
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Polymicrogyria, Macrocephaly, Mitral regurgitation, Knee flexion contrac... OMIM:603387
Achondrogenesis, Type Ii
Microretrognathia, Edema, Long philtrum, Absent vertebral body mineralization, Horizontal ribs, S... OMIM:200610
Split-Foot Deformity With Mandibulofacial Dysostosis
Micrognathia, Malar flattening, Cleft palate OMIM:183700
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Postnatal macrocephaly, Gastroesophageal reflux, Periventricular white matter hyperintensities, M... OMIM:618158
Fontaine Progeroid Syndrome
Low-set ears, Micrognathia, Narrow mouth, Protruding tongue, Hypoplasia of the corpus callosum, N... OMIM:612289
Congenital Disorder Of Deglycosylation 2
Genu recurvatum, Macroglossia, Cerebellar vermis hypoplasia, Hearing impairment, Polymicrogyria, ... OMIM:619775
1P36 Deletion Syndrome
Delayed cranial suture closure, Abnormality of the spleen, Narrow mouth, Cryptorchidism, Abnormal... ORPHA:1606
Cousin Syndrome
Low-set ears, Joint contracture of the hand, Hearing impairment, Dislocation of the femoral head,... OMIM:260660
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Low-set ears, Wide anterior fontanel, Cleft lip, Natal tooth, Hamartoma of tongue, Tetralogy of F... OMIM:617925
Mandibulofacial Dysostosis, Guion-Almeida Type
Low-set ears, Conductive hearing impairment, Atresia of the external auditory canal, Micrognathia... OMIM:610536
Weiss-Kruszka Syndrome
Low-set ears, Horizontal crus of helix, Hearing impairment, Cupped ear, Dextrotransposition of th... OMIM:618619
Trisomy 8P
Abnormal middle ear morphology, Cryptorchidism, Agenesis of corpus callosum, Low posterior hairli... ORPHA:264450
Congenital Disorder Of Glycosylation, Type Ia
Death in childhood, Hepatomegaly, Macrotia, Cerebellar vermis hypoplasia, Villous atrophy, Nonimm... OMIM:212065
Congenital Fibrinogen Deficiency
Gingival bleeding, Volvulus, Bruising susceptibility, Hemorrhagic ovarian cyst, Decreased testicu... ORPHA:335
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome
Broad neck, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, Cryptorchidism, ... ORPHA:163654
Thyroid Hypoplasia
Macroglossia, Jaundice, Hypothyroidism, Thyroid hypoplasia ORPHA:95720
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Abnormality of the outer ear, Hearing impairment, Widely spaced teeth, Recurrent otitis media, In... ORPHA:2728
20Q11.2 Microduplication Syndrome
Tented philtrum, Retrognathia, Low-set, posteriorly rotated ears, Gingival overgrowth, Limited el... ORPHA:363659
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrioventricular block, Type I diabetes mellitus, Abnormal form of the vertebral bodies, Carpal o... ORPHA:371428
Hypothyroidism, Congenital, Nongoitrous, 2
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Goiter, Decreas... OMIM:218700
Craniofacioskeletal Syndrome
Interrupted aortic arch, Tracheal stenosis, Micrognathia, Intrauterine growth retardation, Crypto... OMIM:300712
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome
Bifid uvula, Retrognathia, Micrognathia, Submucous cleft hard palate, Mandibular prognathia, Clef... ORPHA:2521
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Ventricular septal def... ORPHA:79345
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia
Downturned corners of mouth, Malar flattening, Ventricular septal defect, Ectopic anus, Short phi... ORPHA:94066
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Optic atrophy, Cleft soft palate, Micrognathia, Decreased fetal mov... ORPHA:99742
Resistance To Thyrotropin-Releasing Hormone Syndrome
Increased circulating prolactin concentration, Decreased circulating T4 concentration, Reduced ra... ORPHA:99832
Primary Pulmonary Hypoplasia
Low-set ears, Abnormal pulmonary artery morphology, Secundum atrial septal defect, Patellar hypop... ORPHA:2257
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Cerebral calcification, Micrognathia, Ever... ORPHA:2671
Landau-Kleffner Syndrome
Memory impairment, Depression, Short attention span, Emotional lability, Aggressive behavior, Att... ORPHA:98818
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Limited knee fl... ORPHA:268
Phocomelia, Schinzel Type
High, narrow palate, Aplasia/Hypoplasia of the sacrum, Intrauterine growth retardation, Micrognat... ORPHA:2879
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Broad neck, Bifid uvula, Stenosis of the external auditory canal, Micrognathia, Congenital diaphr... OMIM:606164
Trichorhinophalangeal Syndrome, Type Ii
Low-set ears, Rib exostoses, Carious teeth, Hearing impairment, Hyperplasia of the maxilla, Recur... OMIM:150230
Lennox-Gastaut Syndrome
Mental deterioration, Aggressive behavior, Hyperactivity, Irritability ORPHA:2382
Fetal Parvovirus Syndrome
Hypertrophic cardiomyopathy, Ascites, Intrauterine growth retardation, Increased nuchal transluce... ORPHA:295
Boomerang Dysplasia
Decreased response to growth hormone stimulation test, Cryptorchidism, Poorly ossified vertebrae,... ORPHA:1263
Cardiomyopathy, Familial Hypertrophic, 27
Impaired myocardial contractility, Concentric hypertrophic cardiomyopathy, Pterygium, Hypertrophi... OMIM:618052
Meier-Gorlin Syndrome 7
Low-set ears, Hearing impairment, Narrow mouth, Cryptorchidism, Aplasia/Hypoplasia of the patella... OMIM:617063
Esophageal Atresia
Abnormal vertebral morphology, Hearing impairment, Esophagitis, Abnormal gastrointestinal tract m... ORPHA:1199
Intellectual Developmental Disorder, Autosomal Recessive 35
Low-set ears, Downturned corners of mouth, Long philtrum, Micrognathia, Malar flattening, Thin up... OMIM:615162
Congenital Gerbode Defect
Holosystolic murmur, Ventricular septal defect, Elevated jugular venous pressure, Right atrial en... ORPHA:99095
Branchiootic Syndrome 3
Branchial cyst, Sensorineural hearing impairment OMIM:608389
Trisomy 20P
Micrognathia, Abnormal antihelix morphology, Cryptorchidism, Low posterior hairline, Short neck, ... ORPHA:261318
Schwartz-Jampel Syndrome, Type 1
Low-set ears, Joint contracture of the hand, Pursed lips, Micrognathia, Narrow mouth, Hip contrac... OMIM:255800
Oculofaciocardiodental Syndrome
Tooth malposition, Hearing impairment, Genu valgum, Mitral valve prolapse, Sensorineural hearing ... ORPHA:2712
Cerebrocostomandibular Syndrome
Low-set ears, Carious teeth, Micrognathia, Cleft soft palate, Ventricular septal defect, Short ha... OMIM:117650
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Dilated cardiomyopathy, Poor wound healing, Retrognathia, Cardiomyopathy, Recurrent shoulder disl... OMIM:212112
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Gastroesophageal reflux, Velopharyngeal insufficiency, Stapes ankylosis, Long philt... OMIM:614701
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Low-set ears, Long philtrum, Micrognathia, Malar flattening, Thin upper lip vermilion, Everted lo... ORPHA:357175
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hypertrophic cardiomyopathy, Situs inversus totalis, Truncus arteriosus, A... OMIM:615415
Acrofacial Dysostosis, Cincinnati Type
Low-set ears, Hearing impairment, Recurrent otitis media, Median pseudocleft lip, Biventricular h... OMIM:616462
Distal Deletion 10P
Webbed neck, Hearing impairment, Low-set, posteriorly rotated ears, Micrognathia, Cryptorchidism,... ORPHA:1580
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome
Atresia of the external auditory canal, Umbilical hernia, Low-set, posteriorly rotated ears, Vent... ORPHA:1770
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Retrognathia, Intestinal malrotation, Micrognathia, Cryptorchidism, Vent... OMIM:615524
Hydrolethalus
Low-set ears, Bifid uvula, Gingival cleft, Retrognathia, Unilateral cleft lip, Low-set, posterior... ORPHA:2189
Peroxisome Biogenesis Disorder 2A (Zellweger)
Joint contracture of the hand, Abnormal helix morphology, Abnormal heart morphology, Intrauterine... OMIM:214110
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Polyhydramnios, Splenomegaly, Abnormality of neuronal migration, Microcephaly, Hepatomegaly, Hydr... ORPHA:2204
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Supernumerary nipple, Open mouth, Cryptorchidism, Hypoplasia of the corpus callosum, Ventricular ... ORPHA:466791
Meier-Gorlin Syndrome 5
Low-set ears, Hypoplasia of the maxilla, Gastroesophageal reflux, Elbow dislocation, Long philtru... OMIM:613805
Fanconi Anemia, Complementation Group B
Abnormal vertebral morphology, Low-set ears, Aplastic anemia, Hypogonadism, Intrauterine growth r... OMIM:300514
Noonan Syndrome 7
Low-set ears, Webbed neck, Hypertrophic cardiomyopathy, Large earlobe, Macrocephaly, Low posterio... OMIM:613706
Parenti-Mignot Neurodevelopmental Syndrome
Low-set ears, Cupped ear, Micrognathia, Craniosynostosis, Short philtrum, Posteriorly rotated ear... OMIM:619873
Combined Oxidative Phosphorylation Deficiency 57
Reduced cerebral white matter volume, Fetal pleural effusion, Cerebral atrophy, Hypertrophic card... OMIM:620167
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Hearing impairment, Intestinal lymphangiectasia, Lymphedema, Narrow mouth, Irregular dentition, P... OMIM:616006
Chromosome 16P13.3 Duplication Syndrome
Low-set ears, Micrognathia, Cryptorchidism, Ventricular septal defect, Short neck, Small thenar e... OMIM:613458
Dubowitz Syndrome
Hearing impairment, Delayed cranial suture closure, Aplasia/Hypoplasia of the corpus callosum, Cu... ORPHA:235
Pediatric-Onset Graves Disease
Hepatomegaly, Jaundice, Increased circulating T4 concentration, Graves disease, Goiter, Palpitati... ORPHA:525731
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Retrognathia, Patellar hypoplasia, Long philtrum, Gingival overgrowth, Cryptorchidism, Hypoplasia... ORPHA:464288
Diamond-Blackfan Anemia
Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Micrognathia, Cle... ORPHA:124
Cardiofaciocutaneous Syndrome 1
Low-set ears, Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Open bite, Micrognat... OMIM:115150
20Q13.33 Microdeletion Syndrome
Hematochezia, Abnormal cardiac ventricle morphology, Dilation of Virchow-Robin spaces, Prominent ... ORPHA:261311
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Wide anterior fontanel, Downturned corners of mouth, Cardiomyopathy, Anteriorly placed anus, Trac... OMIM:217980
Cog1-Cdg
Temporal cortical atrophy, Hepatosplenomegaly, Micrognathia, Narrow mouth, Short neck, High palat... ORPHA:263508
Peters-Plus Syndrome
Low-set ears, Hearing impairment, Micrognathia, Short lingual frenulum, Cryptorchidism, Limited e... OMIM:261540
Leukocyte Adhesion Deficiency Type Ii
Recurrent otitis media, Microcytic anemia, Protruding tongue, Neutrophilia, Hepatomegaly, Cerebra... ORPHA:99843
Congenital Disorder Of Glycosylation, Type Iil
Optic atrophy, Inflammation of the large intestine, Abnormal cortical gyration, Retrognathia, Cer... OMIM:614576
Hemolytic Disease Of Fetus And Newborn, Rh-Induced
Fetal pericardial effusion, Fetal ascites, Polyhydramnios, Splenomegaly, Hydrops fetalis, Hepatom... OMIM:619462
Orofaciodigital Syndrome Type 4
Low-set ears, Abnormality of the outer ear, Abnormal joint morphology, Micrognathia, Perineal fis... ORPHA:2753
Bamforth-Lazarus Syndrome
Thyroid agenesis, Congenital hypothyroidism, Retrognathia, Cleft palate ORPHA:1226
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:617113
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Atrial flutter, Lymphedema, Oligohydramnios, Ventricular septal defect, Thin upper lip vermilion,... OMIM:601927
Diamond-Blackfan Anemia 10
Low-set ears, Broad neck, Morgagni diaphragmatic hernia, Conductive hearing impairment, Atresia o... OMIM:613309
Meier-Gorlin Syndrome 6
Microretrognathia, Conductive hearing impairment, Gastroesophageal reflux, Umbilical hernia, Decr... OMIM:616835
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... OMIM:600001
Cardiofaciocutaneous Syndrome
Genu valgum, Cryptorchidism, Excessive wrinkled skin, Low posterior hairline, Short neck, Atrial ... ORPHA:1340
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Platyspondyly, Low-set ears, Premature rupture of membranes, Limited elbow extension, Tented uppe... OMIM:616723
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Thin upper lip vermilion, Smooth philtrum, Microcephaly, Hemiver... ORPHA:370079
Phenylketonuria
Depression, Self-mutilation, Irritability, Aggressive behavior, Attention deficit hyperactivity d... OMIM:261600
Ohdo Syndrome, X-Linked
Low-set ears, Hearing impairment, Long philtrum, Widely spaced teeth, Stenosis of the external au... OMIM:300895
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Carious teeth, Natal tooth, Secondary microcephaly, Cryptorchidism, Sensor... ORPHA:353281
8Q22.1 Microdeletion Syndrome
Low-set ears, Abnormality of the dentition, Hypoplasia of the maxilla, Long philtrum, Camptodacty... ORPHA:178303
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Absent internal auditory canal, Profound sensorineural hearing impairment, Hyperintensity of cere... OMIM:620469
Orofaciodigital Syndrome Type 5
High, narrow palate, Bifid uvula, Absent cupid's bow, Tetralogy of Fallot, Cleft soft palate, Age... ORPHA:2919
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder girdle muscle ... ORPHA:98913
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Webbed neck, Retrognathia, Muscular ventricular septal defect, Butterfly vertebrae,... OMIM:619227
Hypothyroidism, Congenital, Nongoitrous, 9
Thyroid hypoplasia, Central hypothyroidism, Inappropriately normal thyroid-stimulating hormone le... OMIM:301035
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Calf muscle pseudohypertrophy, Muscular dystrophy... OMIM:253700
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Lymphopenia, Hypoplasia of the thymus OMIM:200900
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Low-set ears, Neutropenia, Jaundice, Stomatitis, Cerebral atrophy, Abnormal heart morphology, Glo... ORPHA:79282
Apert Syndrome
Bifid uvula, Hypoplasia of the maxilla, Mandibular prognathia, Conductive hearing impairment, Del... ORPHA:87
Hypothyroidism, Congenital, Nongoitrous, 1
Hypothyroidism, Thyroid hypoplasia, Elevated circulating thyroid-stimulating hormone concentratio... OMIM:275200
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Unbalanced atrioventricular canal defect, Hearing impairment, Neonatal death, Ventr... OMIM:619534
Spondylometaphyseal Dysplasia, Schmidt Type
Platyspondyly, Gastroesophageal reflux, Abnormality of the vertebral column, Irregular acetabular... ORPHA:93316
Congenital Neuronal Ceroid Lipofuscinosis
Low-set ears, Vascular granular osmiophilic material deposition, Cerebral hypoplasia, Aplasia/Hyp... ORPHA:168486
Microtia, Hearing Impairment, And Cleft Palate
Increased incisura length, Mixed hearing impairment, Overfolded helix, Cleft palate, Microtia OMIM:612290
Burn-Mckeown Syndrome
Bifid uvula, Conductive hearing impairment, Hearing impairment, Cleft upper lip, Micrognathia, Na... OMIM:608572
Indomethacin Embryofetopathy
Cardiomyopathy, Oligohydramnios, Ventricular septal defect, Atrial septal defect, Hydrops fetalis... ORPHA:1909
Aymé-Gripp Syndrome
Low-set ears, Delayed cranial suture closure, Narrow mouth, Congenital diaphragmatic hernia, Hypo... ORPHA:1272
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome
Low-set ears, Cupped ear, Retrognathia, Hearing impairment, Ventricular septal defect, Sensorineu... ORPHA:52055
Beta-Mercaptolactate Cysteine Disulfiduria
Hypoplasia of the ear cartilage, Umbilical hernia, Low-set, posteriorly rotated ears, Genu valgum... ORPHA:1035
Monosomy 9P
Low-set ears, Atresia of the external auditory canal, Micrognathia, Narrow mouth, Abnormal antihe... ORPHA:261112
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Interrupted aortic arch, Tracheal stenosis, Absent gallbladder, Cryptorchidism, Broad skull, Vent... ORPHA:163979
Ohdo Syndrome
Hearing impairment, Long philtrum, Widely spaced teeth, Stenosis of the external auditory canal, ... OMIM:249620
Tetrasomy 9P
Abnormal earlobe morphology, Micrognathia, Glue ear, Cryptorchidism, Abnormal mitral valve morpho... ORPHA:3310
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Low-set ears, Everted upper lip vermilion, Hearing impairment, Widely spaced teeth, Oligohydramni... OMIM:619056
Familial Papillary Or Follicular Thyroid Carcinoma
Follicular thyroid carcinoma, Abnormal lymph node morphology, Goiter, Chronic noninfectious lymph... ORPHA:319487
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Aortic valve stenosis, Ventricular hypertrophy, Elbow dislocation, Hearing impairment, Genu valgu... OMIM:143095
Fraser Syndrome
Abnormality of the outer ear, Atresia of the external auditory canal, Encephalocele, Cryptorchidi... ORPHA:2052
Generalized Arterial Calcification Of Infancy
Ventricular hypertrophy, Hearing impairment, Medial calcification of large arteries, Adrenal calc... ORPHA:51608
Paganini-Miozzo Syndrome
Low-set ears, Downturned corners of mouth, Malar flattening, Posteriorly rotated ears, Thin vermi... OMIM:301025
Mucopolysaccharidosis Type 2, Attenuated Form
Abnormal vertebral morphology, Hepatosplenomegaly, Abnormal mitral valve morphology, Sensorineura... ORPHA:217093
Developmental And Epileptic Encephalopathy 96
Hydrops fetalis, Primary microcephaly, Death in infancy OMIM:619340
Microphthalmia, Syndromic 8
Widely-spaced maxillary central incisors, Cleft upper lip, Cryptorchidism, Orofacial cleft, Mandi... OMIM:601349
Buratti-Harel Syndrome
Low-set ears, Bifid uvula, Gastroesophageal reflux, Dilation of Virchow-Robin spaces, Velopharyng... OMIM:619314
Desmosterolosis
Low-set ears, Abnormal earlobe morphology, Micrognathia, Narrow mouth, Agenesis of corpus callosu... ORPHA:35107
Campomelia, Cumming Type
Lymphedema, Abnormally ossified vertebrae, Oligohydramnios, Prematurely aged appearance, Death in... ORPHA:1318
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2
Hepatosplenomegaly, Sensorineural hearing impairment, Radioulnar synostosis, Limited pronation/su... OMIM:616738
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma
Microtia OMIM:611863
Mucopolysaccharidosis Type 2, Severe Form
Abnormal vertebral morphology, Hepatosplenomegaly, Abnormal mitral valve morphology, Sensorineura... ORPHA:217085
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Polysplenia, Ductus venosus agenesis, Right aortic arch, Situs inve... OMIM:620642
Hydrops Fetalis, Nonimmune, With Gracile Bones And Dysmorphism
Polyhydramnios, Hydrops fetalis, Adrenal hypoplasia, Nonimmune hydrops fetalis OMIM:613124
Progressive Supranuclear Palsy
Memory impairment, Depression, Emotional lability, Irritability, Cognitive impairment, Dementia, ... ORPHA:683
Brain-Lung-Thyroid Syndrome
Webbed neck, Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyro... ORPHA:209905
Galloway-Mowat Syndrome
Abnormality of the dentition, Hypoplasia of the ear cartilage, Camptodactyly of finger, Intrauter... ORPHA:2065
Hardikar Syndrome
Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral cleft palate, Ventricular septal ... OMIM:301068
Nager Syndrome
Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearing impairment, Hypoplasia... ORPHA:245
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Micrognathia, ... ORPHA:96148
Neurodevelopmental Disorder With Spasticity And Poor Growth
Low-set ears, High, narrow palate, Reduced cerebral white matter volume, Gastroesophageal reflux,... OMIM:618076
Seckel Syndrome 7
Central hypothyroidism, Intrauterine growth retardation, Madelung deformity, Lumbar scoliosis, Mi... OMIM:614851
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Gen... OMIM:253010
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Hypoplastic left heart, Low-set ears, Tetralogy of Fallot, Decreased respo... OMIM:220210
Congenital Pulmonary Lymphangiectasia
Gastroesophageal reflux, Congestive heart failure, Tricuspid regurgitation, Ascites, Pleural effu... ORPHA:2414
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Low-set ears, Carious teeth, Natal tooth, Secondary microcephaly, Microgna... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Low-set ears, Carious teeth, Natal tooth, Secondary microcephaly, Microgna... ORPHA:353277
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Atlantoaxial dislocation, Carious teeth, Aortic root aneurysm, Micrognathia, Mitral... ORPHA:536467
Mitochondrial Complex I Deficiency, Nuclear Type 35
Cardiomyopathy, Intrauterine growth retardation, Redundant neck skin, Neonatal death, Nonimmune h... OMIM:619003
Atelosteogenesis, Type Ii
Platyspondyly, Cervical kyphosis, Lacunar halos around chondrocytes, Lumbar hyperlordosis, Microg... OMIM:256050
Microcephalic Osteodysplastic Primordial Dwarfism Type Ii
Low-set ears, Aplasia/Hypoplasia of the earlobes, Precocious puberty, Retrognathia, Abnormal cere... ORPHA:2637
Achondrogenesis, Type Ia
Low-set ears, Unossified vertebral bodies, Hypoplastic sacrum, Increased nuchal translucency, Abs... OMIM:200600
Recon Progeroid Syndrome
Dental crowding, Skeletal muscle atrophy, Progeroid facial appearance, Cutaneous photosensitivity... OMIM:620370
Hsd10 Disease, Infantile Type
Optic atrophy, Frontotemporal cerebral atrophy, Hearing impairment, Cerebral atrophy, Hypertrophi... ORPHA:391428
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Arteriovenous malformation, Umbilical hernia, Lymph... ORPHA:584
Pendred Syndrome
Abnormal vestibular function, Goiter, Congenital sensorineural hearing impairment, Thyroid carcin... OMIM:274600
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Low-set ears, Cerebellar vermis hypoplasia, Polymicrogyria, Hamartoma of tongue, Hypoplasia of th... OMIM:616546
Trisomy 8Q
Low-set, posteriorly rotated ears, Myelomeningocele, Micrognathia, Cryptorchidism, Protruding ear... ORPHA:1752
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Hearing impairment, Cryptorchidism, Ventricula... OMIM:150250
Tetraploidy
Hypoplasia of the ear cartilage, Aplasia/Hypoplasia of the thymus, Micrognathia, Short philtrum, ... ORPHA:3305
Kagami-Ogata Syndrome
Webbed neck, Premature birth, Pursed lips, Micrognathia, Large placenta, Diastasis recti, Kyphosc... ORPHA:254519
Bullous Dystrophy, Hereditary Macular Type
Microcephaly, Acrocyanosis, Death in childhood OMIM:302000
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Low-set ears, Long philtrum, Intrauterine growth retardation, Cryptorchidism, Sens... OMIM:618958
Absence Of The Pulmonary Artery
Abnormal hemidiaphragm morphology, Abnormal coronary artery morphology, Pulmonary edema, Atrial s... ORPHA:980
Zttk Syndrome
Low-set ears, Narrow mouth, Absent gallbladder, Hypoplasia of the corpus callosum, Ventricular se... OMIM:617140
Adams-Oliver Syndrome 5
Umbilical hernia, Hypersplenism, Splenomegaly, Patent foramen ovale, Pulmonic stenosis, Pulmonary... OMIM:616028
Hydrops Fetalis, Nonimmune
Anemia, Hydrops fetalis, Nonimmune hydrops fetalis, Congestive heart failure OMIM:236750
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Long philtrum, Recurrent otitis media, Micrognathia, Wide mouth, Oligodontia, Smooth philtrum, Po... OMIM:602562
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Goiter, Decreas... ORPHA:226313
Feingold Syndrome 1
Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect, Everted lower lip verm... OMIM:164280
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hearing impairment, Intrauterine growth retardation, Micrognathia, Cleft soft palate, Cryptorchid... ORPHA:2282
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Common atrium, Pulmonary artery hypoplasia, Total anomalous pulmonary ve... OMIM:616749
Deafness, Conductive, With Malformed External Ear
Low-set ears, Conductive hearing impairment, Hypogonadism, Abnormality of the middle ear ossicles... OMIM:221300
Meacham Syndrome
Death in childhood, Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Atrial sept... OMIM:608978
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic valve calcification, Prominent ear helix, ... ORPHA:740
You-Hoover-Fong Syndrome
Vascular ring, Hearing impairment, Kyphoscoliosis, Microcephaly, Coarctation of aorta, Double aor... OMIM:616954
Immunodeficiency 42
Hypoplasia of the thymus, Recurrent aphthous stomatitis, Splenomegaly OMIM:616622
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Platyspondyly, Low-set ears, Downturned corners of mouth, Micrognathia, Agenesis of corpus callos... ORPHA:93267
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech
Platyspondyly, Broad neck, Long philtrum, Thick lower lip vermilion, Thick upper lip vermilion, M... OMIM:611717
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia
Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Papillary thyroid ... ORPHA:97290
Schilbach-Rott Syndrome
Bifid uvula, Micrognathia, Narrow mouth, Submucous cleft hard palate, Microcephaly, Posteriorly r... OMIM:164220
Proteus-Like Syndrome
Genu recurvatum, Thymus hyperplasia, Abnormality of the parathyroid gland, Subcutaneous lipoma, O... ORPHA:2969
Apert Syndrome
Lambdoidal craniosynostosis, Synostosis of carpal bones, Hearing impairment, Delayed cranial sutu... OMIM:101200
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Aortic rupture, Atlantoaxial instability, Conductive hearing impairment, Skeletal muscle atrophy,... OMIM:614557
Monosomy 18P
Tooth malposition, Webbed neck, Carious teeth, Downturned corners of mouth, Micrognathia, Abnorma... ORPHA:1598
Meier-Gorlin Syndrome 4
Genu recurvatum, Low-set ears, Hypoplasia of the maxilla, Thick lower lip vermilion, Breast hypop... OMIM:613804
Ear-Patella-Short Stature Syndrome
Low-set ears, Abnormality of the outer ear, Elbow dislocation, Hearing impairment, Atresia of the... ORPHA:2554
Agnathia-Otocephaly Complex
Low-set ears, Microglossia, Secundum atrial septal defect, Conductive hearing impairment, Aglossi... OMIM:202650
Maffucci Syndrome
Pituitary adenoma, Goiter, Neoplasm of the parathyroid gland, Dysphagia, Parathyroid adenoma, Mul... ORPHA:163634
Hypothyroidism, Congenital, Nongoitrous, 5
Elevated circulating thyroid-stimulating hormone concentration, Congenital hypothyroidism, Mitral... OMIM:225250
Orofaciodigital Syndrome Xix
Low-set ears, Narrow palate, Carious teeth, Cupped ear, Retrognathia, Downturned corners of mouth... OMIM:620107
Idiopathic Neonatal Atrial Flutter
Abnormal atrioventricular conduction, Abnormal EKG, Fetal distress, Reduced left ventricular ejec... ORPHA:45452
Otospondylomegaepiphyseal Dysplasia, Autosomal Dominant
Platyspondyly, Premature osteoarthritis, Malar flattening, Sensorineural hearing impairment, Clef... OMIM:184840
Mccune-Albright Syndrome
Increased circulating cortisol level, Hearing impairment, Increased circulating prolactin concent... ORPHA:562
Mucopolysaccharidosis, Type Iva
Carious teeth, Hypoplasia of the odontoid process, Hearing impairment, Genu valgum, Short neck, A... OMIM:253000
Stickler Syndrome, Type I
Platyspondyly, Bifid uvula, Conductive hearing impairment, Micrognathia, Spondylolisthesis, Submu... OMIM:108300
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development
Low-set ears, Hearing impairment, Long philtrum, Cerebral atrophy, Breast hypoplasia, Narrow mout... OMIM:601353
Reticular Dysgenesis
Lymphopenia, Leukopenia, Congenital agranulocytosis, Hypoplasia of the thymus OMIM:267500
Van Der Woude Syndrome 2
Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate OMIM:606713
Orofaciodigital Syndrome Type 14
Webbed neck, Microretrognathia, Open operculum, Lobulated tongue, Bilateral cryptorchidism, Low-s... ORPHA:434179
Hypomandibular Faciocranial Dysostosis
Low-set ears, Bifid uvula, Aplasia/Hypoplasia of the tongue, Optic disc coloboma, Tracheal stenos... ORPHA:1790
Pyle Disease
Platyspondyly, Mandibular prognathia, Carious teeth, Delayed eruption of teeth, Absent paranasal ... OMIM:265900
Bronchopulmonary Dysplasia
Hyperoxemia, Right ventricular failure, Right ventricular hypertrophy, Premature birth ORPHA:70589
Autosomal Recessive Robinow Syndrome
Synostosis of carpal bones, Elbow dislocation, Hearing impairment, Open bite, Ankyloglossia, Micr... ORPHA:1507
Neuralgic Amyotrophy
Bifid uvula, Upper limb muscle weakness, Narrow mouth, Redundant neck skin, Scapular winging, Acr... ORPHA:2901
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Low-set ears, Delayed cranial suture closure, Lymphopenia, Micrognathia, Cryptorchidism, Atrial s... OMIM:620005
Yunis-Varon Syndrome
Low-set ears, Micrognathia, Cryptorchidism, Anterior concavity of thoracic vertebrae, Sensorineur... OMIM:216340
Vacterl/Vater Association
Occipital encephalocele, Low-set, posteriorly rotated ears, Anorectal anomaly, Tracheal stenosis,... ORPHA:887
Mucopolysaccharidosis Type 2
Abnormal mitral valve morphology, Sensorineural hearing impairment, Arrhythmia, Hepatomegaly, Abn... ORPHA:580
Opitz Gbbb Syndrome
Low-set ears, Natal tooth, Hearing impairment, Aortic root aneurysm, Ankyloglossia, Micrognathia,... ORPHA:2745
Say Syndrome
Micrognathia, Cleft palate, Macrotia OMIM:181180
Combined Oxidative Phosphorylation Defect Type 23
Congestive heart failure, Hypertrophic cardiomyopathy, Right ventricular hypertrophy, Cyanosis, S... ORPHA:444013
Holoprosencephaly 12 With Or Without Pancreatic Agenesis
Low-set ears, Type I diabetes mellitus, Semilobar holoprosencephaly, Conductive hearing impairmen... OMIM:618500
Fanconi Anemia, Complementation Group F
Bone marrow hypocellularity, Conductive hearing impairment, Placental abruption, Decreased respon... OMIM:603467
Trichohepatoenteric Syndrome 1
Aortic regurgitation, Low-set ears, Bifid uvula, Long philtrum, Tetralogy of Fallot, Intrauterine... OMIM:222470
Oligomeganephronia
Secundum atrial septal defect, Branchial cyst, Hearing impairment, Optic disc coloboma, Micrognat... ORPHA:2260
Hydrops, Lactic Acidosis, And Sideroblastic Anemia
Fetal pericardial effusion, Second degree atrioventricular block, Increased mean corpuscular volu... OMIM:617021
Rhizomelic Chondrodysplasia Punctata, Type 2
Optic nerve hypoplasia, Tetralogy of Fallot, Flexion contracture, Micrognathia, Knee contracture,... OMIM:222765
Witteveen-Kolk Syndrome
Hearing impairment, Hyperplasia of the maxilla, Glue ear, Narrow mouth, Open mouth, Sensorineural... OMIM:613406
Umbilical Cord Ulceration-Intestinal Atresia Syndrome
Abnormal tricuspid valve morphology, Abnormal aortic morphology, Polyhydramnios, Ventricular sept... ORPHA:3405
Fanconi Anemia, Complementation Group L
Low-set ears, Webbed neck, Bone marrow hypocellularity, Hypoplastic sacrum, Anotia, Intrauterine ... OMIM:614083
Autosomal Dominant Progressive External Ophthalmoplegia
Hearing impairment, Limb muscle weakness, Myopathy, Focal white matter lesions, Arrhythmia, Hypom... ORPHA:254892
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
8P23.1 Microdeletion Syndrome
Low-set ears, Hypoplastic left heart, Hypertrophic cardiomyopathy, Tetralogy of Fallot, Intrauter... ORPHA:251071
Ring Chromosome 12 Syndrome
Low-set ears, Webbed neck, High, narrow palate, Symphalangism of the thumb, Secundum atrial septa... ORPHA:1439
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Memory impairment, Inappropriate behavior, Aggressive behavior, Attentio... OMIM:619827
Thanatophoric Dysplasia Type 2
Platyspondyly, Hearing impairment, Increased nuchal translucency, Encephalocele, Abnormality of n... ORPHA:93274
Spondylodysplastic Ehlers-Danlos Syndrome
Abnormal vertebral morphology, Aortic valve stenosis, Low-set ears, Hearing impairment, Prominent... ORPHA:536471
Zimmermann-Laband Syndrome 1
Low-set ears, Aortic root aneurysm, Hearing impairment, Hepatomegaly, High palate, Gingival fibro... OMIM:135500
Lowry-Maclean Syndrome
Low-set ears, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Congenital diaphragmatic h... ORPHA:2409
Thanatophoric Dysplasia
Platyspondyly, Low-set ears, Hearing impairment, Intrauterine growth retardation, Increased nucha... ORPHA:2655
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Low-set ears, Supernumerary nipple, Ventricular septal defect, Bicuspid aortic valve, Atrial sept... ORPHA:457279
Gillespie Syndrome
Truncus arteriosus OMIM:206700
Anaplastic Thyroid Carcinoma
Laryngotracheal stenosis, Broad neck, Goiter, Abnormal skeletal muscle morphology, Tracheoesophag... ORPHA:142
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Meckel Syndrome 14
Low-set ears, Microretrognathia, Occipital encephalocele, Retrognathia, Tricuspid regurgitation, ... OMIM:619879
Mucopolysaccharidosis Type 3
Craniofacial hyperostosis, Hearing impairment, Genu valgum, Abnormal mitral valve morphology, Sen... ORPHA:581
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Poor wound healing, Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral val... ORPHA:1900
46,Xy Sex Reversal 4
Long philtrum, Recurrent otitis media, Micrognathia, Sensorineural hearing impairment, Hypergonad... OMIM:154230
Aortic Arch Interruption
Ventricular septal defect, Bicuspid aortic valve, Single ventricle, Patent ductus arteriosus, Ped... ORPHA:2299
Arterial Tortuosity Syndrome
Aortic valve stenosis, Ventricular hypertrophy, Aortic root aneurysm, Generalized arterial tortuo... OMIM:208050
Hypertelorism-Microtia-Facial Clefting Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Median cleft palate, Micro... ORPHA:2213
Smith-Lemli-Opitz Syndrome
Aplasia/Hypoplasia of the corpus callosum, Cutis marmorata, Micrognathia, Congenital diaphragmati... ORPHA:818
Schimke Immuno-Osseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Abnormal intestine morphology, Short neck, Neutropenia, O... ORPHA:1830
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Atrioventricular block, Prominent antihelix, Long philtrum, Thick lower lip vermilion, Joint cont... OMIM:614407
Dysosteosclerosis
Platyspondyly, Optic atrophy, Craniofacial hyperostosis, Delayed eruption of teeth, Hearing impai... ORPHA:1782
Microgastria-Limb Reduction Defect Syndrome
Microgastria, Abnormal cortical gyration, Gastroesophageal reflux, Elbow dislocation, Intestinal ... ORPHA:2538
Congenital Tracheomalacia
Abnormal pulmonary artery morphology, Gastroesophageal reflux, Abnormal heart morphology, Tetralo... ORPHA:95430
Stickler Syndrome Type 1
Platyspondyly, Hypoplasia of the maxilla, Long philtrum, Abnormal vertebral epiphysis morphology,... ORPHA:90653
Spondyloepiphyseal Dysplasia, Stanescu Type
Platyspondyly, Vertebral wedging, Stiff neck, Kyphoscoliosis, Beaking of vertebral bodies, Trismus OMIM:616583
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Edema, Cardiomyopathy, Ascites, Hepatosplenomegaly, Portal hypertension,... OMIM:232500
Developmental Delay With Or Without Dysmorphic Facies And Autism
Low-set ears, Hearing impairment, Supernumerary nipple, Micrognathia, Congenital diaphragmatic he... OMIM:618454
Heterotaxy, Visceral, 4, Autosomal
Common atrium, Total anomalous pulmonary venous return, Bilateral superior vena cava, Polysplenia... OMIM:613751
Keutel Syndrome
Optic atrophy, Hearing impairment, Recurrent otitis media, Calcification of cartilage, Recurrent ... ORPHA:85202
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Elevated circulating thyroid-stimulating hormone concentration, Hearing impairment, Goiter, Type ... OMIM:274300
Meier-Gorlin Syndrome 3
Low-set ears, Hypoplasia of the maxilla, Microretrognathia, Gastroesophageal reflux, Patellar hyp... OMIM:613803
Tricuspid Atresia
Hypoplasia of right ventricle, Cyanosis, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Faundes-Banka Syndrome
Lumbar hemivertebrae, Low-set ears, Flexion contracture of toe, Fetal ascites, Cupped ear, Conduc... OMIM:619376
Braddock-Carey Syndrome 1
Anteriorly placed anus, Aortic valve prolapse, Ventricular septal defect, Cleft palate, Enamel hy... OMIM:619980
Alpha-Thalassemia
Generalized edema, Cholelithiasis, Hyperplasia of the maxilla, Congestive heart failure, Extramed... ORPHA:846
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Precocious puberty, Retrognathia, Moyamoya phenomenon, Dilatation of the cerebral artery, Intraut... OMIM:210720
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Low-set ears, Atrioventricular canal defect, Polyhydramnios, Horizontal ribs, Splenomegaly, Aplas... OMIM:617088
ERI1-related disease
Platyspondyly, Low-set ears, Conductive hearing impairment, Velopharyngeal insufficiency, Tricusp... OMIM:608739
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Low-set ears, Hearing impairment, Recurrent otitis media, Ankyloglossia, Cleft soft palate, Open ... OMIM:619950
Acrofacial Dysostosis, Rodríguez Type
Microretrognathia, Abnormal form of the vertebral bodies, Intrauterine growth retardation, Malar ... ORPHA:1788
Branchioskeletogenital Syndrome
Carious teeth, Short neck, Thoracolumbar kyphoscoliosis, Hypoplasia of the maxilla, Downturned co... ORPHA:1299
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Low-set ears, Thin ribs, Hypoplasia of the odontoid process, Skeletal muscle atrop... OMIM:300232
Walker-Warburg Syndrome
Low-set ears, Aplasia/Hypoplasia involving the skeletal musculature, Cryptorchidism, Agenesis of ... ORPHA:899
Autosomal Recessive Stickler Syndrome
Platyspondyly, Genu valgum, Micrognathia, Malar flattening, Sensorineural hearing impairment, Cle... ORPHA:250984
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Incomplete partition of the cochlea type II, Enlarged vestibular aqueduct, Goiter, Sensorineural ... OMIM:600791
Thyroid Dyshormonogenesis 1
Macroglossia, Hypothyroidism, Goiter, Umbilical hernia OMIM:274400
Diffuse Neonatal Hemangiomatosis
Ascites, Polyhydramnios, Anemia, Thrombocytopenia, Hepatomegaly, Hydrops fetalis, Patent ductus a... ORPHA:2123
Chondroectodermal Dysplasia With Night Blindness
Platyspondyly, Abnormal dental morphology, Micrognathia, Otitis media, Abnormality of the knee, A... ORPHA:319195
21Q22.11Q22.12 Microdeletion Syndrome
Low-set ears, Dental crowding, Downturned corners of mouth, Thick lower lip vermilion, Recurrent ... ORPHA:261323
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Hypoplastic left heart, Ventricular septal defect, Ectopic anus, Spina bifida, Anencephaly, Non-m... ORPHA:2476
Tyshchenko Syndrome
Low-set ears, High, narrow palate, Narrow palate, Supernumerary nipple, Cryptorchidism, Ventricul... OMIM:615102
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Thin ribs, Retrognathia, Micrognathia, Nonimmune hydrops fetalis, Craniosynostosis, Arthrogryposi... OMIM:618265
Trisomy 12P
Low-set ears, Downturned corners of mouth, Supernumerary nipple, Micrognathia, Abnormal antihelix... ORPHA:1699
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of left pulmonary artery from ascending aorta, Ventricular septal defect, Atrial... ORPHA:99050
Lymphedema-Distichiasis Syndrome
Webbed neck, Predominantly lower limb lymphedema, Chylothorax, Cleft upper lip, Lymphedema, Tetra... OMIM:153400
Ossicular Malformations, Familial
Abnormality of the middle ear ossicles, Congenital conductive hearing impairment OMIM:165680
Cleft Velum
Hypoplasia of the maxilla, Conductive hearing impairment, Velopharyngeal insufficiency, Oral-phar... ORPHA:99772
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Webbed neck, Micrognathia, Cleft palate, Pierre-Robin sequence OMIM:602196
Bangstad Syndrome
Cerebral hypoplasia, Retrognathia, Insulin-resistant diabetes mellitus, Goiter, Pancytopenia, Pri... OMIM:210740
Aspartylglucosaminuria
Abnormal vertebral morphology, Abnormality of the dentition, Mandibular prognathia, Carious teeth... ORPHA:93
Kniest Dysplasia
Platyspondyly, Conductive hearing impairment, Umbilical hernia, Recurrent otitis media, Malar fla... OMIM:156550
Igg4-Related Aortitis
Abnormal aortic arch morphology, Aortic dissection, Hypereosinophilia, Intestinal obstruction, Ab... ORPHA:449400
Fanconi Anemia
Arteriovenous malformation, Hearing impairment, Aplasia/Hypoplasia of the uvula, Micrognathia, Cr... ORPHA:84
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Aortic valve stenosis, Hearing impairment, Cleft soft palate, Cryptorchidism, Hypoplasia of the c... ORPHA:268261
Complete Atrioventricular Septal Defect
Abnormal atrioventricular valve physiology, Abnormal cardiac atrium morphology, Elevated jugular ... ORPHA:1329
Pitt-Hopkins Syndrome
Tooth malposition, Abnormal helix morphology, Small cerebral cortex, Failure of eruption of perma... ORPHA:2896
Cardiomyopathy, Familial Restrictive, 6
Restrictive cardiomyopathy, Tricuspid regurgitation, Ascites, Death in infancy, Hepatomegaly, Pul... OMIM:619433
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Platyspondyly, Anisospondyly, Downturned corners of mouth, Long philtrum, Thoracic kyphosis, Micr... ORPHA:163649
Robinow Syndrome, Autosomal Recessive 2
Low-set ears, Abnormality of the dentition, Long philtrum, Micrognathia, Cleft soft palate, Gingi... OMIM:618529
Schwartz-Jampel Syndrome
Elbow dislocation, Pursed lips, Genu valgum, Micrognathia, Narrow mouth, Hip contracture, Myopath... ORPHA:800
Microcephaly 30, Primary, Autosomal Recessive
Cerebral cortical atrophy, Secundum atrial septal defect, Fetal distress, Tracheal stenosis, Clef... OMIM:620183
Growth Retardation, Developmental Delay, And Facial Dysmorphism
Bifid uvula, Retrognathia, Umbilical hernia, Hypertrophic cardiomyopathy, Protruding tongue, Cryp... OMIM:612938
Meier-Gorlin Syndrome 2
Gastroesophageal reflux, Breast hypoplasia, Intrauterine growth retardation, Micrognathia, Narrow... OMIM:613800
Bartsocas-Papas Syndrome 1
Low-set ears, Micrognathia, Short neck, Anal atresia, Hypoplasia of the maxilla, Popliteal pteryg... OMIM:263650
Feingold Syndrome
Annular pancreas, Abnormal form of the vertebral bodies, Duodenal atresia, Abnormality of the spl... ORPHA:1305
Otospondylomegaepiphyseal Dysplasia
Abnormal vertebral morphology, Platyspondyly, Bifid uvula, Abnormal joint morphology, Lumbar hype... ORPHA:1427
1Q21.1 Microdeletion Syndrome
Interrupted aortic arch, Long philtrum, Ankyloglossia, Intrauterine growth retardation, Cryptorch... ORPHA:250989
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Platyspondyly, Webbed neck, Joint contracture of the hand, Bifid uvula, Dental malocclusion, Dela... OMIM:612350
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome
Erythema, Retrognathia, Long philtrum, Intrauterine growth retardation, Left ventricular hypertro... OMIM:620510
Restrictive Dermopathy 1
Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Neonatal death, Atrial septal defect, Pate... OMIM:275210
Methemoglobinemia, Beta Type
Methemoglobinemia, Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia, Cyanosis OMIM:617973
Lethal Kniest-Like Dysplasia
Platyspondyly, Low-set ears, Edema, Abnormal cartilage morphology, Short ribs, Hypoplastic verteb... ORPHA:2347
Trisomy 18
Aplasia/Hypoplasia of the corpus callosum, Narrow mouth, Congenital diaphragmatic hernia, Cryptor... ORPHA:3380
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, Dental malocclusion, Hearing impairment, Long neck, Wide mouth, Cryptorchidism, De... OMIM:227330
Chromosome 6Q24-Q25 Deletion Syndrome
Low-set ears, Mitral valve prolapse, Agenesis of corpus callosum, Low posterior hairline, Persist... OMIM:612863
Campomelic Dysplasia
Low-set ears, Thin ribs, Carious teeth, Hypoplastic cervical vertebrae, Hearing impairment, Contr... OMIM:114290
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Low-set ears, Abnormality of the dentition, Hypoplastic sacrum, Long philtrum, Breast hypoplasia,... OMIM:614813
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Aortic valve stenosis, Bifid uvula, Hypoplastic left heart, Spinal dysraphism, Absence of the sac... OMIM:617660
Vertebral Hypersegmentation And Orofacial Anomalies
Unilateral cleft lip, Supernumerary nipple, Micrognathia, Submucous cleft hard palate, Supernumer... OMIM:619122
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Low-set ears, Pancytopenia, Thin upper lip vermilion, Glossitis, Anemia, Tracheoesophageal fistul... OMIM:277380
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Low-set ears, Hearing impairment, Absent gallbladder, Hypoplasia of the corpus callosum, Cerebell... ORPHA:500150
Atelosteogenesis Type I
Platyspondyly, Laryngotracheal stenosis, Low-set ears, Joint dislocation, Absent or minimally oss... ORPHA:1190
Cardiospondylocarpofacial Syndrome
Low-set ears, Carpal synostosis, Recurrent otitis media, Mitral regurgitation, Congenital diaphra... OMIM:157800
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Cupped ear, Anteriorly placed anus, Intrauterine growth retardation, Micrognathia, Hearing abnorm... ORPHA:1352
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome
Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Cutis marmorata, Livedo ra... OMIM:615688
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Perlman Syndrome
Low-set ears, Distal ileal atresia, Interrupted aortic arch, Visceromegaly, Everted upper lip ver... OMIM:267000
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Microtia ORPHA:139450
Fryns Syndrome
Low-set ears, Thin ribs, Joint contracture of the hand, Abnormal helix morphology, Hypoplasia of ... OMIM:229850
Scalp-Ear-Nipple Syndrome
Low-set ears, Bifid uvula, Mandibular prognathia, Cupped ear, Congestive heart failure, Breast ap... OMIM:181270
Distal Deletion 9P
Aplasia/Hypoplasia of the earlobes, High, narrow palate, Abnormal helix morphology, Abnormality o... ORPHA:1642
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Prominent antihelix, Retrognathia, Cleft soft palate, Periventricular leukomalacia, Underdevelope... ORPHA:293725
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Diminished ability to concentrate, Aggressive behavior,... OMIM:615516
Adnp Syndrome
Low-set ears, Gastroesophageal reflux, Cerebral atrophy, Umbilical hernia, Thick lower lip vermil... ORPHA:404448
Hypogonadotropic Hypogonadism 5 With Or Without Anosmia
Cleft lip, Cryptorchidism, Sensorineural hearing impairment, Hypogonadotropic hypogonadism, Cleft... OMIM:612370
Recombinant 8 Syndrome
Low-set ears, Abnormality of the dentition, Hearing impairment, Downturned corners of mouth, Clef... ORPHA:96167
Williams Syndrome
Synostosis of joints, Carious teeth, Open bite, Genu valgum, Micrognathia, Mitral regurgitation, ... ORPHA:904
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Skeletal muscle atrophy, Cherry red spot of the macula, Sp... OMIM:230650
Farber Disease
Skeletal muscle atrophy, Cherry red spot of the macula, Ascites, Abnormality of the wrist, Hepato... ORPHA:333
Kleefstra Syndrome
Hearing impairment, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callosum, Ventricula... ORPHA:261494
Spondylometaphyseal Dysplasia, Axial
Platyspondyly, Optic atrophy, Splenomegaly, Anterior rib cupping, Reduced sperm motility, Scoliosis OMIM:602271
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Aminopterin/Methotrexate Embryofetopathy
Spinal dysraphism, Tetralogy of Fallot, Low-set, posteriorly rotated ears, Micrognathia, Situs in... ORPHA:1908
Skin Creases, Congenital Symmetric Circumferential, 2
Low-set ears, Broad neck, Carious teeth, Micrognathia, Narrow mouth, Cryptorchidism, Hypoplasia o... OMIM:616734
Coffin-Siris Syndrome 12
Low-set ears, Velopharyngeal insufficiency, Delayed cranial suture closure, Micrognathia, Cryptor... OMIM:619325
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Short uvula, Ascites, Agenesis of permanent teeth, Short lingual frenulum, Microdontia, Short rib... OMIM:614091
Arthrogryposis, Distal, Type 3
Congenital hip dislocation, Bifid uvula, Arthrogryposis multiplex congenita, Decreased muscle mas... OMIM:114300
Cartilage-Hair Hypoplasia
Short neck, Neutropenia, Hepatomegaly, Macrotia, Heart block, Low-set, posteriorly rotated ears, ... ORPHA:175
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Hearing impairment, Abnormal earlobe morphology, Large placenta, Congen... ORPHA:116
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus ORPHA:228190
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Low-set ears, Genu valgum, Micrognathia, Open mouth, Protruding tongue, Sensorineural hearing imp... OMIM:309580
Classic Glucose Transporter Type 1 Deficiency Syndrome
Abnormal erythrocyte morphology, Progressive microcephaly, Cyanosis ORPHA:71277
Intellectual Developmental Disorder, Autosomal Dominant 53
Intestinal malrotation, Macrocephaly, Genu valgum, Cryptorchidism, Ventricular septal defect, Mic... OMIM:617798
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal helix morphology, Tricuspid regurgitation, Atrioventricular canal defect, Congenital dia... ORPHA:1120
Anophthalmia Plus Syndrome
Aplasia/Hypoplasia of the earlobes, Tessier cleft, Low-set, posteriorly rotated ears, Bilateral c... ORPHA:1104
Cantu Syndrome
Platyspondyly, Congenital hypertrophy of left ventricle, Long philtrum, Umbilical hernia, Thick u... OMIM:239850
Lacrimoauriculodentodigital Syndrome
Low-set ears, Carious teeth, Xerostomia, Micrognathia, Cryptorchidism, Sensorineural hearing impa... ORPHA:2363
Hall-Riggs Syndrome
Platyspondyly, Thick lower lip vermilion, Intrauterine growth retardation, Hypoplasia of the prim... OMIM:234250
Robin Sequence With Cleft Mandible And Limb Anomalies
Low-set ears, Bifid uvula, Microretrognathia, Small hypothenar eminence, Cleft mandible, Microgna... OMIM:268305
Pseudotrisomy 13 Syndrome
Low-set ears, Encephalocele, Cryptorchidism, Agenesis of corpus callosum, Ventricular septal defe... OMIM:264480
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type
Abnormal vertebral morphology, Platyspondyly, Carious teeth, Hearing impairment, Delayed ossifica... ORPHA:93346
Fraser Syndrome 1
Low-set ears, Atresia of the external auditory canal, Abnormal middle ear morphology, Encephaloce... OMIM:219000
Hydrops Fetalis
Generalized edema, Increased placental thickness, Lymphedema, Abnormal heart morphology, Ascites,... ORPHA:1041
Cree Impaired Intellectual Development Syndrome
Low-set ears, Webbed neck, Micrognathia, Cleft soft palate, Cryptorchidism, Aplasia/Hypoplasia of... OMIM:606851
Coffin-Siris Syndrome 11
Bifid uvula, Downturned corners of mouth, Cleft soft palate, Agenesis of corpus callosum, Low pos... OMIM:618779
Fetal Iodine Deficiency Disorder
Congenital goiter, Congenital hypothyroidism, Hearing impairment OMIM:228355
Frontometaphyseal Dysplasia 2
Low-set ears, Decreased muscle mass, Cryptorchidism, Hip contracture, Sensorineural hearing impai... OMIM:617137
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tooth malposition, Recurrent otitis media, Secondary microcephaly, Genu va... ORPHA:261537
Atelosteogenesis, Type I
Low-set ears, Elbow dislocation, Stillbirth, Knee dislocation, Premature birth, Thoracic platyspo... OMIM:108720
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Cervical myelopathy, Bifid uvula, Hypoplasia of the odontoid process, Kyphosis, He... OMIM:183900
Pearson Syndrome
Hearing impairment, Pancytopenia, Neutropenia, Hypoparathyroidism, Hepatomegaly, Hypoplastic sple... ORPHA:699
Congenital Disorder Of Glycosylation, Type 2V
Low-set ears, Retrognathia, Protruding ear, Thin upper lip vermilion, Short philtrum, Low posteri... OMIM:619493
Restrictive Dermopathy
Low-set ears, Thin ribs, Natal tooth, Micrognathia, Large placenta, Narrow mouth, Atrial septal d... ORPHA:1662
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Natal tooth, Increased circulating prolactin concentration, Recurrent otitis media,... ORPHA:3455
Classical Ehlers-Danlos Syndrome
Aortic root aneurysm, Poor wound healing, Mitral regurgitation, Mitral valve prolapse, Fragile sk... ORPHA:287
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Osteoarthritis ORPHA:2762
Thyrocerebrorenal Syndrome
Abnormality of the musculature of the limbs, Thrombocytopenia, Euthyroid goiter, Sensorineural he... ORPHA:3327
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Pseudocoarctation of the aorta, Bicuspid aortic valve, Patent ductus arteriosus OMIM:604381
Marden-Walker Syndrome
Low-set ears, Aplasia/Hypoplasia involving the skeletal musculature, Micrognathia, Narrow mouth, ... ORPHA:2461
Ascher Syndrome
Goiter, Abnormal upper lip morphology, Upper eyelid edema, Hypothyroidism, High palate ORPHA:1253
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Absence of the pulmonary valve, Tetralogy of Fallot, Right ao... OMIM:618780
Multiple Epiphyseal Dysplasia, Lowry Type
Genu valgum, Micrognathia, Knee flexion contracture, Cleft hard palate, Dislocated radial head, S... ORPHA:166016
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Platyspondyly, Cerebellar vermis hypoplasia, Microglossia, Tricuspid regurgitation, Hamartoma of ... OMIM:263520
Stüve-Wiedemann Syndrome
Abnormality of the dentition, Smooth tongue, Camptodactyly of finger, Elbow flexion contracture, ... ORPHA:3206
Alpha-Mannosidosis, Infantile Form
Abnormality of the sphenoid sinus, Hepatosplenomegaly, Genu valgum, Pancytopenia, Mitral regurgit... ORPHA:309282
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Goiter, Thrombocytopenia, Sensorineural hearing impairment OMIM:274240
Transaldolase Deficiency
Low-set ears, Hepatosplenomegaly, Pancytopenia, Ventricular septal defect, Telangiectasia, Short ... OMIM:606003
Thanatophoric Dysplasia Type 1
Platyspondyly, Hearing impairment, Increased nuchal translucency, Excessive wrinkled skin, Patent... ORPHA:1860
Congenital Tricuspid Valve Dysplasia
Premature birth, Tricuspid regurgitation, Intrauterine growth retardation, Abnormal tricuspid val... ORPHA:555874
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Abnormal fear-induced behavior, Irritability, Aggressive behavior, Hyperactivity, Anorexia, Abnor... ORPHA:3077
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Low-set ears, Unilateral cleft lip, Focal polymicrogyria, Thick lower lip vermilion, Wide mouth, ... OMIM:619103
Developmental Delay, Language Impairment, And Ocular Abnormalities
Myelomeningocele, Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity ... OMIM:620141
Shprintzen Omphalocele Syndrome
Webbed neck, Lumbar hyperlordosis, Hypoplasia of the pharynx, Single umbilical artery, Thin vermi... OMIM:182210
Schinzel-Giedion Syndrome
Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Micrognathia, Streak ovary... ORPHA:798
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Tooth malposition, Hypoplastic anterior commissure, Hyphema, Recurrent oti... ORPHA:261552
Pseudodiastrophic Dysplasia
Platyspondyly, Webbed neck, Hypoplasia of the odontoid process, Elbow dislocation, Tongue-like lu... OMIM:264180
Van Der Woude Syndrome 1
Bifid uvula, Cleft upper lip, Lower lip pit, Hypodontia, Cleft palate OMIM:119300
Robinow Syndrome
Low-set ears, Tooth malposition, Ankyloglossia, Micrognathia, Marked delay in eruption of permane... ORPHA:97360
Dyskeratosis Congenita
Carious teeth, Periodontitis, Hearing impairment, Premature graying of hair, Cerebral calcificati... ORPHA:1775
Mucopolysaccharidosis, Type Ix
Bifid uvula, Chondrocalcinosis, Popliteal synovial cyst, Recurrent otitis media, Periarticular so... OMIM:601492
Autoimmune Lymphoproliferative Syndrome
Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive helper T cells, Abnormal proport... ORPHA:3261
Idiopathic Pulmonary Arterial Hypertension
Ankle swelling, Congestive heart failure, Tricuspid regurgitation, Palpitations, Increased pulmon... ORPHA:275766
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Short philtrum, Thi... OMIM:156510
Ohdo Syndrome, Sbbys Variant
Low-set ears, Dilated cardiomyopathy, Hearing impairment, Micrognathia, Cryptorchidism, Microdont... OMIM:603736
Ayme-Gripp Syndrome
Low-set ears, Craniofacial asymmetry, Mandibular prognathia, Abnormality of the dentition, Hearin... OMIM:601088
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Facial telangiectasia in butterfly midface distribution, Lymphedema, Thick vermilion border, Tela... OMIM:137940
Pulmonary Hypertension, Primary, 1
Elevated right atrial pressure, Right ventricular failure, Arterial intimal fibrosis, Increased p... OMIM:178600
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Hearing impairment, Lymphopenia, Hepatosplenomegaly, Cryptorchidism, Oral ulcer, Sensorineural he... OMIM:612541
Otofaciocervical Syndrome 1
Cupped ear, Long neck, Conductive hearing impairment, Scapular winging, Mixed hearing impairment,... OMIM:166780
Autoinflammatory Disease, Systemic, With Vasculitis
Erythema, Hepatosplenomegaly, Oral ulcer, Periorbital edema, Hepatomegaly, Jaundice, Purpura, Inc... OMIM:620376
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Dilated cardiomyopathy, Skeletal muscle atrophy, Congestive heart failure, Ascites, Generalized a... ORPHA:367
Barber-Say Syndrome
Low-set ears, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, Cryptorchidism, Hig... OMIM:209885
Mowat-Wilson Syndrome
Aortic valve stenosis, Tooth malposition, Recurrent otitis media, Genu valgum, Open mouth, Crypto... ORPHA:2152
Adams-Oliver Syndrome
Gastrointestinal hemorrhage, Arteriovenous malformation, Tetralogy of Fallot, Ascites, Leukopenia... ORPHA:974
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type
Platyspondyly, Hypoplasia of the odontoid process, Malar flattening, Microcephaly, Irregularity o... ORPHA:85172
Dysosteosclerosis
Platyspondyly, Optic atrophy, Natal tooth, Hearing impairment, Delayed eruption of teeth, Facial ... OMIM:224300
Menke-Hennekam Syndrome 1
Low-set ears, Hearing impairment, Everted upper lip vermilion, Micrognathia, Cryptorchidism, Abse... OMIM:618332
Meckel Syndrome, Type 7
Aortic valve stenosis, Hepatosplenomegaly, Oligohydramnios, Portal hypertension, Situs inversus t... OMIM:267010
Cowden Syndrome
Follicular thyroid carcinoma, Adenoma sebaceum, Hearing impairment, Goiter, Furrowed tongue, Neop... ORPHA:201
Multiple Endocrine Neoplasia Type 1
Increased serum serotonin, Increased circulating cortisol level, Shortened QT interval, Pituitary... ORPHA:652
Brachycephaly, Trichomegaly, And Developmental Delay
Low-set ears, Bifid uvula, Conductive hearing impairment, Thick lower lip vermilion, Open mouth, ... OMIM:617412
Chromosome 1P36 Deletion Syndrome, Proximal
Low-set ears, Dilated cardiomyopathy, Cleft lip, Biventricular hypertrophy, Coronary artery fistu... OMIM:619343
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Bifid uvula, Conductive hearing impairment, Delayed eruption of teeth, Dental crowding, Micrognat... OMIM:300990
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Carious teeth, Xerostomia, Cryptorchidism, Absence of Stensen duct, Ectodermal dysplasia, Anal at... OMIM:129900
Myhre Syndrome
Craniofacial hyperostosis, Hearing impairment, Narrow mouth, Cryptorchidism, Mandibular prognathi... ORPHA:2588
Aspergillosis
Abnormality of the vertebral column, Pleural effusion, Stroke, Sinusitis, Abnormal esophagus morp... ORPHA:1163
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly
Low-set ears, Protein-losing enteropathy, Thickened nuchal skin fold, Pancreatic lymphangiectasis... OMIM:235255
Hb Bart'S Hydrops Fetalis
Congestive heart failure, Oligohydramnios, Polyhydramnios, Abnormal hemoglobin, Splenomegaly, Ane... ORPHA:163596
Combined Oxidative Phosphorylation Deficiency 42
Hearing impairment, Cardiomyopathy, Intrauterine growth retardation, Death in infancy, Neonatal d... OMIM:618839
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypertrophic cardiomyopathy, Cyanosis, Myopathy, Low-output congestive heart failure ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 40
Hearing impairment, Hypertrophic cardiomyopathy, Intrauterine growth retardation, Death in infanc... OMIM:618835
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome
Predominantly lower limb lymphedema, Palmar telangiectasia, Ascites, Cutis marmorata, Pleural eff... ORPHA:69735
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency
Reduced red cell pyruvate kinase level, Congenital hemolytic anemia, Abnormal erythrocyte morphol... ORPHA:766
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Ileal atresia, Colonic atresia, Intestinal malrotation, Lymphopenia, Thrombocytosis, Leukocytosis... OMIM:243150
Lenz-Majewski Hyperostotic Dwarfism
Delayed cranial suture closure, Cryptorchidism, Agenesis of corpus callosum, Elbow ankylosis, Mac... ORPHA:2658
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth, Herniation ... OMIM:601216
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Dentinogenesis imperfecta, Skeletal muscle atrophy, Hearing impairment, Long philt... OMIM:614856
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Mosaic Variegated Aneuploidy Syndrome
Hearing impairment, Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Stomach cancer, Atri... ORPHA:1052
Free Sialic Acid Storage Disease
Ascites, Splenomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Hepatomegaly, Hydrop... ORPHA:834
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Platyspondyly, Dentinogenesis imperfecta, Delayed eruption of teeth, Sensorineural hearing impair... ORPHA:71267
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Wide anterior fontanel, Gastroesophageal reflux, Hearing impairment, Congestive he... OMIM:616482
Otopalatodigital Syndrome, Type Ii
Low-set ears, Micrognathia, Narrow mouth, Cryptorchidism, Short neck, Atrial septal defect, Dilat... OMIM:304120
Phace Association
Optic atrophy, Arterial stenosis, Congenital hypothyroidism, Ventricular septal defect, Cerebella... OMIM:606519
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Low-set ears, Prominent crus of helix, Supernumerary nipple, Genu valgum, Cryptorchidism, Hypopla... OMIM:619194
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Umbilical hernia, Contracture of the distal interp... OMIM:607015
Multiple Endocrine Neoplasia, Type Iib
High, narrow palate, Colonic diverticula, Elevated circulating calcitonin concentration, Thick lo... OMIM:162300
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Platyspondyly, Low-set ears, Thin ribs, Intrauterine growth retardation, Micrognathia, Death in i... ORPHA:163966
Cholesteryl Ester Storage Disease
Adrenal calcification, Splenomegaly, Hepatomegaly, Jaundice, Arteriosclerosis, Esophageal varix ORPHA:75234
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Atrioventricular canal defect, Micrognathia, Cryptorchidism, Ventricular septal defect... OMIM:619123
Alstrom Syndrome
Abnormality of the dentition, Dilated cardiomyopathy, Progressive sensorineural hearing impairmen... OMIM:203800
Osteogenesis Imperfecta, Type Ii
Platyspondyly, Thin ribs, Congestive heart failure, Nonimmune hydrops fetalis, Multiple rib fract... OMIM:166210
Feingold Syndrome Type 1
Interrupted aortic arch, Tricuspid stenosis, Conductive hearing impairment, Abnormal heart morpho... ORPHA:391641
Congenital Enterovirus Infection
Hypotension, Fetal ascites, Cardiomyopathy, Fetal distress, Leukopenia, Leukocytosis, Abnormal ma... ORPHA:292
Osteogenesis Imperfecta
Thin ribs, Carious teeth, Aortic root aneurysm, Hearing impairment, Enlarged vertebral pedicles, ... ORPHA:666
Coach Syndrome 1
Cerebellar vermis hypoplasia, Occipital encephalocele, Aplasia/Hypoplasia of the cerebellar vermi... OMIM:216360
Odontochondrodysplasia
Platyspondyly, Dentinogenesis imperfecta, Delayed eruption of teeth, Retrognathia, Death in infan... ORPHA:166272
Graves Disease
Graves disease, Goiter, Congestive heart failure, Increased circulating free T3, Increased circul... OMIM:275000
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Tessier cleft, Hypoplasia of the ear cartilage, Lip pit, Camptodactyly of finger, Large earlobe, ... ORPHA:1236
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Low-set ears, Hearing impairment, Ventricular septal defect, Bicuspid aort... OMIM:618164
Anemia, Congenital Dyserythropoietic, Type Iv
Wide anterior fontanel, Increased RBC distribution width, Persistence of hemoglobin F, Hypertroph... OMIM:613673
Distal Limb Deficiencies-Micrognathia Syndrome
Hypoplasia of the maxilla, Microretrognathia, Conductive hearing impairment, Microglossia, Low-se... ORPHA:1307
Arterial Tortuosity Syndrome
Aortic root aneurysm, Esophagitis, Hip dislocation, Macrotia, Gastroesophageal reflux, Hypertroph... ORPHA:3342
Pseudopseudohypoparathyroidism
Short neck, Enamel hypoplasia, Delayed eruption of teeth, Pseudohypoparathyroidism OMIM:612463
S-Adenosylhomocysteine Hydrolase Deficiency
Abnormality of the dentition, Muscular dystrophy, Hypoplasia of the pons, Cardiomyopathy, Hypopla... ORPHA:88618
Fraser Syndrome 3
Low-set ears, Ascites, Micrognathia, Oligohydramnios, Nonimmune hydrops fetalis, Simple ear, Trac... OMIM:617667
Treacher Collins Syndrome 2
Microretrognathia, Conductive hearing impairment, Retrognathia, Hypoplasia of the zygomatic bone,... OMIM:613717
Bcard Syndrome
Platyspondyly, Low-set ears, Abnormality of the dentition, Contracture of the proximal interphala... OMIM:612394
Phosphoserine Aminotransferase Deficiency
Secondary microcephaly, Cerebellar vermis hypoplasia, Death in infancy, Cyanotic episode OMIM:610992
Acromelic Frontonasal Dysostosis
Low-set ears, Hypopituitarism, Encephalocele, Hypoplasia of the corpus callosum, Agenesis of corp... OMIM:603671
Mitochondrial Complex Iii Deficiency, Nuclear Type 11
Microtia OMIM:620137
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities
Depression, Short attention span, Aggressive behavior, Attention deficit hyperactivity disorder, ... OMIM:620242
Coxoauricular Syndrome
Atresia of the external auditory canal, Hip dislocation, Hearing impairment, Microtia ORPHA:1508
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Atresia of the external auditory canal, Velopharyngeal insufficiency, Micrognathia,... OMIM:154400
Aneurysm-Osteoarthritis Syndrome
Abdominal aortic aneurysm, Intervertebral disk degeneration, Mitral regurgitation, Knee osteoarth... ORPHA:284984
C Syndrome
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Congenital diaphragmatic hernia, Cryptor... ORPHA:1308
Noonan Syndrome
Abnormality of the spleen, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Low po... ORPHA:648
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Platyspondyly, Premature osteoarthritis, Lumbar hyperlordosis, Micrognathia, Malar flattening, Se... OMIM:215150
Omphalocele Syndrome, Shprintzen-Goldberg Type
Webbed neck, Gastroesophageal reflux, Downturned corners of mouth, Hypoplasia of the pharynx, Thi... ORPHA:3164
Orofaciodigital Syndrome Vi
Low-set ears, Micrognathia, Agenesis of corpus callosum, High palate, Accessory oral frenulum, Hy... OMIM:277170
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Low-set ears, Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Sensorineural heari... OMIM:608670
Poems Syndrome
Increased circulating prolactin concentration, Sclerotic vertebral endplates, Hepatomegaly, Visce... ORPHA:2905
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Hypoplasia of the maxilla, Carious teeth, Xerostomia, Hearing impairment, Anal stenosis, Selectiv... OMIM:604292
Turner Syndrome Due To Structural X Chromosome Anomalies
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy... ORPHA:99413
Mosaic Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy... ORPHA:99228
Monosomy X
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy... ORPHA:99226
Turner Syndrome
Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Hy... ORPHA:881
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Long philtrum, Stenosis of the... ORPHA:2878
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Low-set ears, Cleft lip, Cleft upper lip, Micrognathia, Malar flattening, Anodontia, Protruding e... OMIM:225060
Aicardi-Goutieres Syndrome 1
Leukoencephalopathy, Vasculitis, Erythema, Cardiomyopathy, Cerebral atrophy, Intracerebral perive... OMIM:225750
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Low-set ears, Genu valgum, Mitral regurgitation, Hypoplasia of the corpus callosum, Carpal bone h... ORPHA:457395
Hereditary Methemoglobinemia
Temporal cortical atrophy, Global brain atrophy, Small basal ganglia, Cyanosis, Microcephaly, Fro... ORPHA:621
Hypermobile Ehlers-Danlos Syndrome
Aortic root aneurysm, Elbow dislocation, Mitral valve prolapse, Arrhythmia, Tendon rupture, Recta... ORPHA:285
Lymphatic Malformation 12
Fetal pericardial effusion, Fetal ascites, Fetal pleural effusion, Fetal chylothorax, Lymphedema,... OMIM:620014
Cleft Palate, Cardiac Defect, Genital Anomalies, And Ectrodactyly
Low-set ears, Hypoplastic helices, Cleft upper lip, Absent pulmonary artery, Tetralogy of Fallot,... OMIM:600460
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Reduced natural killer cell count, Restrictive cardiomyopathy, Endocardial fibroelastosis, Hypopl... OMIM:619313
Jacobsen Syndrome
Aortic valve stenosis, Aplasia/Hypoplasia of the earlobes, Cryptorchidism, Agenesis of corpus cal... ORPHA:2308
Gaucher Disease
Gingival bleeding, Aortic valve calcification, Hearing impairment, Cherry red spot of the macula,... ORPHA:355
Smith-Lemli-Opitz Syndrome
Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Cryptorchidism, Hypoplasi... OMIM:270400
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Secundum atrial septal defect, Hearing impa... OMIM:620455
Ablepharon Macrostomia Syndrome
Hypoplasia of the maxilla, Atresia of the external auditory canal, Hearing impairment, Camptodact... ORPHA:920
Microcephalic Primordial Dwarfism, Dauber Type
Subglottic stenosis, Madelung deformity, Lumbar scoliosis, Microcephaly, Bilateral breast hypopla... ORPHA:319675
Lacrimoauriculodentodigital Syndrome 3
Carious teeth, Cupped ear, Hearing impairment, Xerostomia, Widely spaced teeth, Enamel hypoplasia... OMIM:620193
Loeys-Dietz Syndrome 6
Ventricular hypertrophy, Abdominal aortic aneurysm, Intervertebral disk degeneration, Congenital ... OMIM:619656
Pulmonary Hypertension, Primary, 5
Right ventricular failure, Angina pectoris, Pulmonary arterial hypertension, Syncope, Right ventr... OMIM:265400
Maternal Phenylketonuria
Hypoplastic helices, Hypoplastic left heart, Long philtrum, Abnormal heart morphology, Tetralogy ... ORPHA:2209
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Aortic valve calcification, Poor wound healing, Abnormality of the spleen, Hepatosplenomegaly, Pa... ORPHA:2072
Spondylo-Ocular Syndrome
Platyspondyly, Low-set ears, Webbed neck, Long philtrum, Facial hypotonia, Abnormal antihelix mor... ORPHA:85194
Earlobes, Thickened, With Conductive Deafness From Incudostapedial Abnormalities
Bilateral conductive hearing impairment, Micrognathia, Absent stapes head, Abnormality of the mal... OMIM:128980
Congenital Tracheal Stenosis
Hypoplastic left heart, Fetal ascites, 5-minute APGAR score of 3, Meckel diverticulum, Abnormal e... ORPHA:141127
2Q37 Microdeletion Syndrome
Conductive hearing impairment, Downturned corners of mouth, Umbilical hernia, Supernumerary nippl... ORPHA:1001
Odontochondrodysplasia 1
Platyspondyly, Genu recurvatum, Dentinogenesis imperfecta, Biconvex vertebral bodies, Delayed eru... OMIM:184260
Hemochromatosis, Neonatal
Prolonged neonatal jaundice, Intrauterine growth retardation, Oligohydramnios, Nonimmune hydrops ... OMIM:231100
Thyroid Hormone Resistance, Generalized, Autosomal Dominant
Increased circulating free T4 concentration, Impaired sensitivity to thyroid hormone, Increased c... OMIM:188570
Saul-Wilson Syndrome
Platyspondyly, Hypoplasia of the odontoid process, Hearing impairment, Progeroid facial appearanc... OMIM:618150
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Coarctation of aorta, Right aortic arch OMIM:140850
Meckel Syndrome, Type 1
Low-set ears, Natal tooth, Occipital encephalocele, Micrognathia, Large placenta, Cryptorchidism,... OMIM:249000
Phace Syndrome
Ectopic thyroid, Aortic root aneurysm, Abnormal heart morphology, Tetralogy of Fallot, Abnormal c... ORPHA:42775
Greenberg Dysplasia
Platyspondyly, Abnormal form of the vertebral bodies, Lymphedema, Micrognathia, Abnormal leukocyt... ORPHA:1426
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Sclerotic foci of metaphyses of the elbow, Squared-off platyspondyly, Thoracic sco... OMIM:271530
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Aplasia/Hypoplasia of the earlobes, Abnormal dental enamel morphology, Macrodontia, Abnormal anti... ORPHA:2916
Acrocallosal Syndrome
Low-set ears, Hearing impairment, Everted upper lip vermilion, Narrow mouth, Open mouth, Protrudi... OMIM:200990
Native American Myopathy
Progressive congenital scoliosis, Bifid uvula, Gastroesophageal reflux, Conductive hearing impair... ORPHA:168572
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Conical tooth, Conductive hearing impairment, Delayed eruption of teeth, Widely spaced teeth, Abn... ORPHA:1071
Mosaic Trisomy 16
Craniofacial asymmetry, Meckel diverticulum, Hearing impairment, Anteriorly placed anus, Abnormal... ORPHA:1708
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Hearing impairment, 11 pairs of ribs, Cryptorchidism, Agenesis of ... ORPHA:77298
Mucopolysaccharidosis Type 4
Platyspondyly, Abnormality of the dentition, Carious teeth, Joint dislocation, Hearing impairment... ORPHA:582
Noonan Syndrome 10
Low-set ears, Mitral regurgitation, Mitral valve prolapse, Ventricular septal defect, Cryptorchid... OMIM:616564
Parietal Foramina With Cleidocranial Dysplasia
Macrocephaly, Microtia, Widely patent fontanelles and sutures OMIM:168550
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Abnormality of the vertebral column, Atrioventricular canal defect... OMIM:314390
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Hearing impairment, Lumbar hyperlordosis, Genu valgum, Micrognathia, Limited elbow... ORPHA:94068
Oculocerebrorenal Syndrome Of Lowe
Carious teeth, Periodontitis, Open bite, Genu valgum, Micrognathia, Open mouth, Cryptorchidism, E... ORPHA:534
Thyroid Dyshormonogenesis 3
Compensated hypothyroidism, Increased T3/T4 ratio, Thyroid carcinoma, Goiter OMIM:274700
Marshall Syndrome
Low-set ears, Platyspondyly, Macrodontia of permanent maxillary central incisor, Bifid uvula, Lon... OMIM:154780
Townes-Brocks Syndrome 1
Cryptorchidism, Sensorineural hearing impairment, Ventricular septal defect, Atrial septal defect... OMIM:107480
Immunodeficiency 23
Erythema, Conductive hearing impairment, Aortic root aneurysm, Lymphopenia, Hemolytic anemia, Sen... OMIM:615816
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities
Low-set ears, Broad neck, Carious teeth, Downturned corners of mouth, Hydrocele testis, Intrauter... OMIM:619522
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Low-set ears, Retrognathia, Long neck, Micrognathia, Narrow mouth, Protruding ear, Short neck, Hi... OMIM:301091
Bangstad Syndrome
Abnormality of the dentition, Type I diabetes mellitus, Increased circulating cortisol level, Abn... ORPHA:1227
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Platyspondyly, Lumbar hyperlordosis, Genu valgum, Thoracic kyphosis, Intervertebral space narrowi... OMIM:609223
Aicardi-Goutières Syndrome
Low-set ears, Degeneration of the striatum, Neonatal alloimmune thrombocytopenia, Moyamoya phenom... ORPHA:51
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Gastroesophageal reflux, Prominent antihelix, Hearing impairment, Wide mouth, Branchial anomaly, ... ORPHA:466950
Restrictive Dermopathy 2
Hypoplastic facial bones, Microretrognathia, Gastroesophageal reflux, Fetal distress, Intrauterin... OMIM:619793
Rhombencephalosynapsis
Microretrognathia, Low-set, posteriorly rotated ears, Agenesis of cerebellar vermis, Narrow mouth... ORPHA:59315
Loeys-Dietz Syndrome 3
Ventricular hypertrophy, Tortuous cerebral arteries, Abdominal aortic aneurysm, Intervertebral di... OMIM:613795
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Agenesis of corpus callosum, Pulmonary edema, Ventricular septal ... ORPHA:137675
Familial Idiopathic Dilatation Of The Right Atrium
Holosystolic murmur, Arrhythmia, Hepatomegaly, Right atrial enlargement, Abnormal jugular vein mo... ORPHA:1677
Cat Eye Syndrome
Hypoplastic left heart, Low-set ears, Total anomalous pulmonary venous return, Anal stenosis, Mec... OMIM:115470
Thyroid Dyshormonogenesis 2A
Thyroid defect in oxidation and organification of iodide, Decreased circulating T4 concentration,... OMIM:274500
Immunodeficiency 9
Lymphopenia, Recurrent aphthous stomatitis, Hypoplasia of the thymus, Amelogenesis imperfecta, Ab... OMIM:612782
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Low-set ears, Bifid uvula, Scoliosis, Cupped ear, Dermatographic urticaria, Gastroesophageal refl... OMIM:619480
Lacrimoauriculodentodigital Syndrome 2
Conical tooth, Carious teeth, Cupped ear, Hearing impairment, Microdontia, Hypodontia, Microtia OMIM:620192
Chondrodysplasia Punctata 2, X-Linked Dominant
Hearing impairment, Edema, Punctate vertebral calcifications, Stippled calcification in carpal bo... OMIM:302960
Cole-Carpenter Syndrome 2
Lambdoidal craniosynostosis, Coronal craniosynostosis, Platyspondyly, Dentinogenesis imperfecta, ... OMIM:616294
Distal Deletion 19P
Hypoplasia of the maxilla, Conductive hearing impairment, Umbilical hernia, Low-set, posteriorly ... ORPHA:96129
Hydrolethalus Syndrome 1
Low-set ears, Micrognathia, Agenesis of corpus callosum, Ventricular septal defect, Gray matter h... OMIM:236680
Dubowitz Syndrome
Low-set ears, Carious teeth, Aplastic anemia, Delayed eruption of teeth, Velopharyngeal insuffici... OMIM:223370
Thyroid Cancer, Nonmedullary, 1
Non-medullary thyroid carcinoma, Goiter, Papillary thyroid carcinoma OMIM:188550
Catel-Manzke Syndrome
Low-set ears, Genu valgum, Micrognathia, Narrow mouth, Cryptorchidism, Ventricular septal defect,... OMIM:616145
Chiari Malformation Type Ii
Cervical myelopathy, Myelomeningocele, Limb muscle weakness, Cyanosis, Agenesis of corpus callosu... OMIM:207950
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Congenital pyloric atresia, Neonatal death, Oral mucosal blisters, Esophageal stenosis, Microtia OMIM:619817
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Wiskott-Aldrich Syndrome
Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leu... ORPHA:906
Orofaciodigital Syndrome Iv
Low-set ears, Lobulated tongue, Hamartoma of tongue, Micrognathia, High palate, Tongue nodules, C... OMIM:258860
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Self-injurious behavior, Abnormal temper tantrums, Depression, Short attention span, Recurrent ha... ORPHA:449291
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... ORPHA:2255
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic root aneurysm, Cutis marmorata, Abdominal aortic aneurysm, Bicuspid aortic valve, Carotid ... ORPHA:91387
Diamond-Blackfan Anemia 1
Delayed cranial suture closure, Persistence of hemoglobin F, Micrognathia, Ventricular septal def... OMIM:105650
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome
High, narrow palate, Joint dislocation, Abnormal mandible morphology, Camptodactyly of finger, Su... ORPHA:3201
Systemic Sclerosis
Intestinal bleeding, Narrow mouth, Telangiectasia, Dysphagia, Abnormal large intestine morphology... ORPHA:90291
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Platyspondyly, Low-set ears, Webbed neck, Cupped ear, Increased ve... OMIM:620662
Diaphragmatic Hernia 4, With Cardiovascular Defects
Low-set ears, Webbed neck, Aortopulmonary collateral arteries, Pulmonary artery hypoplasia, Aorti... OMIM:620025
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Underdeveloped tragus, Cryptorchidism, Bi... OMIM:610829
Benign Schwannoma
Vertigo, Intestinal polyposis, Hearing abnormality, Vestibular schwannoma, Abnormal cranial nerve... ORPHA:252164
Loeys-Dietz Syndrome 2
Joint contracture of the hand, Aortic root aneurysm, Generalized arterial tortuosity, Micrognathi... OMIM:610168
Wiedemann-Rautenstrauch Syndrome
Low-set ears, Thin ribs, Natal tooth, Long neck, Prominent scalp veins, Micrognathia, Narrow mout... OMIM:264090
Phosphoribosylaminoimidazole Carboxylase Deficiency
Lumbar hemivertebrae, Low-set ears, Bilateral cryptorchidism, Neonatal death, Missing ribs, Short... OMIM:619859
Thyroid Dyshormonogenesis 5
Hypothyroidism, Goiter OMIM:274900
Thyroid Dyshormonogenesis 4
Hypothyroidism, Goiter OMIM:274800
Blepharochalasis And Double Lip
Blepharochalasis, Duplication of the upper lip, Goiter OMIM:109900
Fucosidosis
Abnormality of the dentition, Hearing impairment, Decreased muscle mass, Vascular skin abnormalit... ORPHA:349
Faciocardiorenal Syndrome
Endocardial fibroelastosis, Narrow mouth, Protruding ear, Tricuspid valve prolapse, Smooth philtr... ORPHA:1973
Thyroid Cancer, Nonmedullary, 4
Ovarian neoplasm, Papillary thyroid carcinoma, Goiter OMIM:616534
Gaucher Disease, Type Ii
Gastroesophageal reflux, Cerebral atrophy, Splenomegaly, Death in infancy, Anemia, Trismus, Throm... OMIM:230900
Familial Visceral Myopathy
Hyperparathyroidism, Umbilical hernia, Low-set, posteriorly rotated ears, Camptodactyly of finger... ORPHA:2604
Pseudodiastrophic Dysplasia
Platyspondyly, Elbow dislocation, Malar flattening, Phalangeal dislocation, Scoliosis ORPHA:85174
Orofaciodigital Syndrome V
Low-set ears, Bifid uvula, Hearing impairment, Tetralogy of Fallot, Ankyloglossia, Hamartoma of t... OMIM:174300
Mowat-Wilson Syndrome
Tooth malposition, Supernumerary nipple, Recurrent otitis media, Cryptorchidism, Hypoplasia of th... OMIM:235730
Lymphatic Malformation 1
Predominantly lower limb lymphedema, Hyperkeratosis over edematous areas, Hypoplasia of lymphatic... OMIM:153100
Gm1-Gangliosidosis, Type Ii
Platyspondyly, Thoracolumbar kyphosis, Optic atrophy, Cerebral atrophy, Sea-blue histiocytosis, G... OMIM:230600
Lymphatic Malformation 13
Fetal pericardial effusion, Fetal pleural effusion, Long philtrum, Lymphedema, Ascites, Mitral re... OMIM:620244
Cardiac Valvular Dysplasia 1
Left aortic arch with cervical origin of the right subclavian artery, Valvular pulmonary stenosis... OMIM:212093
Long Qt Syndrome 3
Torsade de pointes, Ventricular flutter, Nonimmune hydrops fetalis, Syncope, Ventricular tachycar... OMIM:603830
Atrial Septal Defect, Ostium Primum Type
Mitral regurgitation, Abnormally loud pulmonic component of the second heart sound, Right atrial ... ORPHA:99106
Van Der Woude Syndrome
Lip pit, Cleft upper lip, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... ORPHA:888
Schimke Immunoosseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Pancytopenia, Short neck, Neutropenia, Ovoid vertebral bo... OMIM:242900
Pseudohypoparathyroidism, Type Ic
Elevated circulating parathyroid hormone level, Delayed eruption of teeth, Elevated circulating t... OMIM:612462
Mitochondrial Complex I Deficiency, Nuclear Type 1
Leukoencephalopathy, Skeletal muscle atrophy, Concentric hypertrophic cardiomyopathy, Hypertrophi... OMIM:252010
Spondyloepiphyseal Dysplasia Tarda, Kohn Type
Platyspondyly, Abnormality of the knee, Abnormality of the ankle, Abnormal vertebral morphology ORPHA:163665
Chromosome 17Q12 Duplication Syndrome
Cleft soft palate, Micrognathia, Smooth philtrum, Esophageal atresia, Atrial septal defect, Facia... OMIM:614526
Thanatophoric Dysplasia, Type I
Platyspondyly, Champagne cork sign, 5-minute APGAR score of 1, 1-minute APGAR score of 1, Decreas... OMIM:187600
Familial Adenomatous Polyposis
Stomach cancer, Hepatoblastoma, Desmoid tumors, Neoplasm of the adrenal gland, Colorectal polypos... ORPHA:733
Chromosome 15Q25 Deletion Syndrome
Low-set ears, Webbed neck, Cleft upper lip, Polysplenia, Coronary artery fistula, Tented upper li... OMIM:614294
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Low-set ears, Cerebral cortical atrophy, Gastroesophageal reflux, Downturned corners of mouth, Lo... OMIM:614756
Lethal Omphalocele-Cleft Palate Syndrome
Bifid uvula, Unilateral cleft lip, Retrognathia, Cleft soft palate, Cleft palate ORPHA:2736
Spondyloenchondrodysplasia With Immune Dysregulation
Low-set ears, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Cerebral calcification, ... OMIM:607944
Chanarin-Dorfman Syndrome
Myopathy, Sensorineural hearing impairment, Everted lower lip vermilion, Hepatomegaly, Microtia OMIM:275630
Thyroid Lymphoma
Broad neck, Goiter, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Lymphadenopathy, Dysp... ORPHA:97285
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Intestinal obstruction, Purpura, Dysphagia, Endocarditis, Vasculitis, Gastroesop... ORPHA:183
Goiter, Multinodular 1, With Or Without Sertoli-Leydig Cell Tumors
Euthyroid multinodular goiter, Papillary thyroid carcinoma OMIM:138800
Combined Oxidative Phosphorylation Deficiency 41
Hearing impairment, Intrauterine growth retardation, Nonimmune hydrops fetalis, Cardiomegaly, Dec... OMIM:618838
Townes-Brocks Syndrome 2
Cupped ear, Overfolded helix, Spina bifida occulta, Anal atresia, Rectovaginal fistula, Scoliosis... OMIM:617466
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Platyspondyly, Hearing impairment, Abnormal hip joint morphology, Limited elbow extension, Abnorm... ORPHA:1856
Pseudohypoparathyroidism, Type Ia
Elevated circulating parathyroid hormone level, Delayed eruption of teeth, Hypogonadism, Basal ga... OMIM:103580
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Hypogonadotropic hypogonadism, Optic nerve aplasia, Butterfly vertebrae, ... OMIM:206900
Kabuki Syndrome 1
Abnormal vertebral morphology, Low-set ears, Anoperineal fistula, Hearing impairment, Recurrent o... OMIM:147920
Acromesomelic Dysplasia 4
Platyspondyly, Low-set ears, Third degree atrioventricular block, Umbilical hernia, Thoracic plat... OMIM:619636
Hemihyperplasia-Multiple Lipomatosis Syndrome
Abnormal venous morphology, Abnormal cerebral vascular morphology, Abnormality of the lymphatic s... ORPHA:276280
Tsh-Secreting Pituitary Adenoma
Increased circulating prolactin concentration, Central adrenal insufficiency, Elevated circulatin... ORPHA:91347
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Arthrogryposi... OMIM:156530
Benign Familial Infantile Epilepsy
Cyanosis ORPHA:306
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Carious teeth, Dilated cardiomyopathy, Skeletal muscle atrophy, Gastroesophageal reflux, Anal fis... ORPHA:89842
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Conductive hearing impairment, Atresia of the external auditory canal, Elbow dislocation, Abnorma... ORPHA:3236
Anauxetic Dysplasia 3
Platyspondyly, Gastroesophageal reflux, Retrognathia, Genu valgum, Oligodontia, Beaking of verteb... OMIM:618853
Deiodinase, iodothyronine, type I
Euthyroid hyperthyroxinemia, Goiter OMIM:147892
Thyroid Hormone Plasma Membrane Transport Defect
Euthyroid hyperthyroxinemia, Goiter OMIM:188560
Pseudohypoparathyroidism Type 1B
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Delayed ... ORPHA:94089
Spondylometaphyseal Dysplasia, Type A4
Platyspondyly, Irregular patellae, Costochondral joint sclerosis, Enlargement of the costochondra... OMIM:609052
Orofacial Cleft 13
Retrognathia, Cleft soft palate, Micrognathia, Malar flattening, Oligodontia OMIM:613857
Methimazole Embryofetopathy
Intrauterine growth retardation, Abnormality of the thyroid gland, Abnormal aortic morphology, Ve... ORPHA:1923
Multiple Endocrine Neoplasia Type 2
Abnormal tongue morphology, Reduced subcutaneous adipose tissue, Proximal amyotrophy, Parathyroid... ORPHA:653
Unilateral Polymicrogyria
Epistaxis, Giant somatosensory evoked potentials, Pseudobulbar paralysis, Abnormal heart morpholo... ORPHA:268943
Aortic Arch Interruption, Facial Palsy, And Retinal Coloboma
Interrupted aortic arch, Coarctation of aorta, Facial palsy OMIM:107550
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Epiphyseal Dysplasia, Multiple, 7
Platyspondyly, Vertebral wedging, Advanced ossification of carpal bones, Flat acetabular roof, Ge... OMIM:617719
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Genu valgum, Intervertebral space narrowing, Short neck, High pala... ORPHA:93315
Secondary Hypoparathyroidism Due To Impaired Parathormon Secretion
Abnormality of the parathyroid gland, Secondary hyperparathyroidism ORPHA:140286
Hand-Foot-Genital Syndrome
Synostosis of carpal bones, Ventricular septal defect, Microtia, Sacral dimple, Miscarriage ORPHA:2438
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Interrupted aortic arch, Leukoencephalopathy, Increased variability in muscle fiber diameter, Gas... ORPHA:17
Dysspondyloenchondromatosis
Platyspondyly, Anisospondyly, Joint dislocation, Cerebral calcification, Genu valgum, Vertebral s... ORPHA:85198
Kniest Dysplasia
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Hearing impairment, Abnorma... ORPHA:485
Capillary Malformation-Arteriovenous Malformation
Epistaxis, Arteriovenous malformation, Chylothorax, Vascular skin abnormality, Congestive heart f... ORPHA:137667
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Low-set ears, Lumbar hyperlordosis, Malar flattening, Posteriorly rotated ears, Sh... OMIM:612813
Cholesteryl Ester Storage Disease
Hepatic foam cells, Adrenal calcification, Hepatosplenomegaly, Hypersplenism, Portal hypertension... OMIM:278000
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Micrognathia, Multinodular goiter, Microcephaly, Embryonal rhabdomyosarcoma, Adenocarcinoma of th... OMIM:620189
Saethre-Chotzen Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Low-set ears, Hypoplasia of the maxilla, H... OMIM:101400
Niemann-Pick Disease Type C
Fetal ascites, Hearing impairment, Cerebral atrophy, Ascites, Hepatosplenomegaly, Splenomegaly, H... ORPHA:646
Desbuquois Dysplasia 1
Platyspondyly, Microretrognathia, Joint dislocation, Kyphosis, Long philtrum, Intrauterine growth... OMIM:251450
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Optic nerve hypoplasia, Open mouth, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... ORPHA:457284
Cyanosis, Transient Neonatal
Reticulocytosis, Cyanosis, Methemoglobinemia, Anemia, Hepatomegaly, Jaundice OMIM:613977
Coffin-Lowry Syndrome
Hearing impairment, Cutis marmorata, Open mouth, Mitral regurgitation, Sensorineural hearing impa... OMIM:303600
Craniosynostosis 2
Unicoronal synostosis, Bicoronal synostosis, Cleft soft palate, Wormian bones, Metopic synostosis... OMIM:604757
Severe Combined Immunodeficiency, X-Linked
Hypoplasia of the thymus, T lymphocytopenia, Impaired lymphocyte transformation with phytohemaggl... OMIM:300400
Retinal Dystrophy With Or Without Extraocular Anomalies
Goiter OMIM:617175
Septo-Optic Dysplasia Spectrum
Absent septum pellucidum, Cryptorchidism, Agenesis of corpus callosum, Sensorineural hearing impa... ORPHA:3157
Brachyolmia, Maroteaux Type
Platyspondyly, Scoliosis, Abnormal form of the vertebral bodies ORPHA:93302
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Decreased proportion of CD8-positive T cells, Cerebral calcification, Decreased proportion of CD4... OMIM:617241
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Hip contracture, Knee flexion contracture, Thoracolumbar scoliosis, Kyphosis, Enla... OMIM:313420
Osteogenesis Imperfecta, Type V
Platyspondyly, Dentinogenesis imperfecta, Vertebral wedging, Anterior radial head dislocation, Bi... OMIM:610967
Multinodular Goiter-Cystic Kidney-Polydactyly Syndrome
Multinodular goiter ORPHA:2091
Bronchogenic Cyst
Abnormal stomach morphology, Abnormal pericardium morphology, Abnormality of the neck, Abnormal l... ORPHA:2357
Hypophosphatasia, Infantile
Platyspondyly, Unossified vertebral bodies, Abnormality of the dentition, Rachitic rosary, Stillb... OMIM:241500
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Gastrointestinal hemorrhage, Pulmonary embolism, Dental crowding, Arteriovenous ma... ORPHA:394
Mast Cell Sarcoma
Mastocytosis, Hypoplasia of the ear cartilage, Splenomegaly, Lymphadenopathy, Hepatomegaly, Media... ORPHA:66661
Scalp-Ear-Nipple Syndrome
Abnormality of the dentition, Type I diabetes mellitus, Delayed eruption of teeth, Breast aplasia... ORPHA:2036
Eisenmenger Syndrome
Ventricular septal defect, Elevated jugular venous pressure, Atrial septal defect, Hepatomegaly, ... ORPHA:97214
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Platyspondyly, Atresia of the external auditory canal, Wormian bones, Macrocephaly, Wide anterior... OMIM:601356
Deafness-Hypogonadism Syndrome
Conductive hearing impairment, Severe conductive hearing impairment, Progressive sensorineural he... ORPHA:90646
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Platyspondyly, Optic atrophy, Craniofacial osteosclerosis, Cerebral cal... OMIM:618476
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... ORPHA:99642
Galactosialidosis
Visceromegaly, Hearing impairment, Cherry red spot of the macula, Hepatosplenomegaly, Nonimmune h... OMIM:256540
Pseudoachondroplasia
Platyspondyly, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, Irregul... ORPHA:750
Cntnap2-Related Developmental And Epileptic Encephalopathy
Mental deterioration, Abnormal temper tantrums, Low frustration tolerance, Self-mutilation, Stere... ORPHA:163681
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Interrupted aortic arch, Cerebral cortical atrophy, Craniofacial hyperosto... ORPHA:2396
Epiphyseal Dysplasia, Multiple, With Severe Proximal Femoral Dysplasia
Platyspondyly, Genu valgum, Irregularity of vertebral bodies OMIM:609324
Osteoarthritis With Mild Chondrodysplasia
Platyspondyly, Hip osteoarthritis, Schmorl's node, Knee osteoarthritis, Beaking of vertebral bodi... OMIM:604864
Igg4-Related Thyroid Disease
Graves disease, Euthyroid goiter, Goiter, Tracheal stenosis, Sialadenitis, Hashimoto thyroiditis,... ORPHA:64744
Spondyloepimetaphyseal Dysplasia, Isidor-Toutain Type
Platyspondyly, Anemia, Scoliosis, Genu varum OMIM:618728
Autosomal Dominant Brachyolmia
Platyspondyly, Increased vertebral height, Kyphoscoliosis ORPHA:93304
Orofaciodigital Syndrome Type 10
Retrognathia, Long philtrum, Micrognathia, Cleft soft palate, Short neck, Tarsal synostosis, Meta... ORPHA:2756
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Gastroesophageal reflux, Dental crowding, Retrognathia, Long philtrum, Optic disc coloboma, Intra... OMIM:617157
Spondyloepimetaphyseal Dysplasia, Di Rocco Type
Platyspondyly, Genu varum, Delayed ossification of carpal bones, Irregular acetabular roof OMIM:617974
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Atrophic gastritis, Male hypogonadism, Cholelithiasis, Type I diabetes mellitus, Adrenal insuffic... OMIM:240300
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Genu valgum, Genu varum OMIM:608361
Cantú Syndrome
Platyspondyly, Long philtrum, Umbilical hernia, Hypertrophic cardiomyopathy, Macrocephaly, Broad ... ORPHA:1517
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Hypoplastic left heart, Intestinal malrotation, Micrognathia, Abnormal aortic morphology, Bilater... ORPHA:2001
Proteus Syndrome
Low-set ears, Rib exostoses, Carious teeth, Arteriovenous malformation, Decreased muscle mass, My... ORPHA:744
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Myopathy, Pulmonary edema, Breech presentation, Increased myocardial g... OMIM:261740
Goiter, Multinodular 2
Euthyroid multinodular goiter OMIM:300273
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Low-set ears, Bifid uvula, Abnormal circulating calcium-phosphate regulating hormone concentratio... ORPHA:2636
Stickler Syndrome
Hearing impairment, Open bite, Genu valgum, Micrognathia, Mitral valve prolapse, Sensorineural he... ORPHA:828
Buerger Disease
Vasculitis, Arterial occlusion, Intermittent claudication, Livedo reticularis, Raynaud phenomenon... ORPHA:36258
Isolated Anencephaly
Cleft lip, Thymus hyperplasia, Maternal diabetes, Adrenal hypoplasia ORPHA:563609
Spondyloenchondrodysplasia
Platyspondyly, Vasculitis, Dental malocclusion, Delayed eruption of teeth, Decreased response to ... ORPHA:1855
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Goiter, Decreased thyroid-stimulating hormone level, Increased circulating free T4 concentration,... OMIM:613239
Periventricular Nodular Heterotopia 9
Everted upper lip vermilion, Polymicrogyria, Squared superior portion of helix, Periventricular n... OMIM:618918
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome
Platyspondyly, Pulmonary embolism, Congestive heart failure, Hypertrophic cardiomyopathy, Abnorma... ORPHA:1345
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Goiter, Palpitations, Rhabdomyolysis, Hyperthyroidism, Tachycardia OMIM:188580
Anauxetic Dysplasia 1
Platyspondyly, Aortic valve stenosis, Macroglossia, Atlantoaxial dislocation, Elbow flexion contr... OMIM:607095
Mirage Syndrome
Gastroesophageal reflux, Lymphopenia, Intrauterine growth retardation, Decreased testicular size,... OMIM:617053
Axial Spondylometaphyseal Dysplasia
Platyspondyly, Optic atrophy, Posterior wedging of vertebral bodies, Aplasia/Hypoplasia of the ve... ORPHA:168549
Townes-Brocks Syndrome
Abnormal vertebral morphology, Hearing impairment, Cryptorchidism, Agenesis of corpus callosum, A... ORPHA:857
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Low-set ears, Hypoplastic helices, Hearing impairment, Abnormal heart morphology, Oligohydramnios... OMIM:617641
Spondylocamptodactyly Syndrome
Platyspondyly, Scoliosis, Camptodactyly of finger ORPHA:3180
Mitochondrial Trifunctional Protein Deficiency 1
Dilated cardiomyopathy, Congestive heart failure, Rhabdomyolysis, Myopathy, Arrhythmia, Hydrops f... OMIM:609015
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Premature adrenarche, Central hypothyroidism, Increased circulating prolactin concentration, Decr... ORPHA:293987
Intellectual Developmental Disorder, Autosomal Dominant 58
Dental crowding, Wide mouth, Protruding tongue, Submucous cleft hard palate, Microcephaly, Thick ... OMIM:618106
Geroderma Osteodysplasticum
Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Progeroid ... OMIM:231070
Achondroplasia
Premature rupture of membranes, Spinal stenosis with reduced interpedicular distance, Conductive ... OMIM:100800
Cerebrocostomandibular Syndrome
Webbed neck, Hydranencephaly, Conductive hearing impairment, Atresia of the external auditory can... ORPHA:1393
Spondyloepiphyseal Dysplasia Tarda With Impaired Intellectual Development
Platyspondyly, Anterior beaking of lumbar vertebrae OMIM:271620
Wolman Disease
Adrenal calcification, Ascites, Adrenal insufficiency, Splenomegaly, Hepatomegaly, Anemia, Steato... ORPHA:75233
Cleft Palate, Deafness, And Oligodontia
Agenesis of permanent teeth, Oligodontia of primary teeth, Cleft soft palate, Bilateral conductiv... OMIM:216300
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Hearing impairment, Protruding tongue, Cyanosis, Microcephaly, Limb hypertonia, Thin corpus callosum OMIM:619580
Asbestos Intoxication
Cor pulmonale, Right ventricular failure, Oxygen desaturation on exertion, Cyanosis, Hepatojugula... ORPHA:2302
Isolated Right Ventricular Hypoplasia
Bidirectional shunt, Abnormal atrioventricular conduction, Right ventricular failure, Right-to-le... ORPHA:439
Osteogenesis Imperfecta, Type I
Dentinogenesis imperfecta, Otosclerosis, Hearing impairment, Bruising susceptibility, Biconcave f... OMIM:166200
Acquired Methemoglobinemia
Vertigo, Palpitations, Cyanosis, Methemoglobinemia, Arrhythmia, Syncope, Tachycardia, Hypoxemia ORPHA:464453
Hall-Riggs Syndrome
Platyspondyly, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel mor... ORPHA:2107
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Platyspondyly, Kyphoscoliosis, Lumbar scoliosis, Premature pubarche, Irregular vertebral endplates OMIM:612847
Isolated Childhood Apraxia Of Speech
High, narrow palate, Abnormal caudate nucleus morphology, Submucous cleft hard palate, Caudate at... ORPHA:209908
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Multiple rib fractures, Wormian bones, Scoliosis, Kyphosis OMIM:259440
Anterior Chamber Cleavage Disorder, Cerebellar Hypoplasia, Hypothyroidism, And Tracheal Stenosis
Abnormality of the dentition, Decreased response to growth hormone stimulation test, Stenosis of ... OMIM:601427
Osteogenesis Imperfecta, Type Xvi
Platyspondyly, Microretrognathia, Conductive hearing impairment, Hearing impairment, Bruising sus... OMIM:616229
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Genu valgum, Cyanosis, Hypoplasia of the corpus callosum, Sensorineura... ORPHA:488627
Orofaciodigital Syndrome Type 2
Natal tooth, Velopharyngeal insufficiency, Micrognathia, High palate, Peg-shaped maxillary latera... ORPHA:2751
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Thoracolumbar kyphosis, Low-set ears, Thin ribs, Disc-like vertebral bodies, Macrocephaly, Short ... OMIM:151210
High Altitude Pulmonary Edema
Vertigo, Leukocytosis, Cyanosis, Pulmonary edema, Tachycardia, Hypoxemia ORPHA:330012
Holoprosencephaly 2
Bifid uvula, Anterior pituitary agenesis, Median cleft palate, Malar flattening, Submucous cleft ... OMIM:157170
Waardenburg Syndrome Type 3
Synostosis of carpal bones, Hearing impairment, Camptodactyly of finger, Tented upper lip vermili... ORPHA:896
Heterotaxy, Visceral, 8, Autosomal
Aortopulmonary collateral arteries, Hypoplastic left heart, Unbalanced atrioventricular canal def... OMIM:617205
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Platyspondyly, Low-set ears, Thin ribs, 11 pairs of ribs, Intrauterine growth retardation, Hydroc... OMIM:300863
Progressive Pseudorheumatoid Arthropathy Of Childhood
Joint contracture of the hand, Genu valgum, Abnormality of the neck, Beaking of vertebral bodies,... ORPHA:1159
Rhabdomyosarcoma, Embryonal, 2
Goiter, Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Thyroid nodule OMIM:180295
Jung Syndrome
Abnormal form of the vertebral bodies, Aplasia/Hypoplasia of the corpus callosum, Tracheal stenos... ORPHA:2321
Sepsis In Premature Infants
Hypotension, Functional abnormality of the gastrointestinal tract, Leukocytosis, Splenomegaly, Pe... ORPHA:90051
Eec Syndrome
Carious teeth, Xerostomia, Tooth agenesis, Abnormal dental enamel morphology, Decreased response ... ORPHA:1896
Brachydactylous Dwarfism, Mseleni Type
Platyspondyly, Hip osteoarthritis, Joint subluxation, Abnormality of the ankle, Osteoarthritis of... ORPHA:2619
Avascular Necrosis Of Femoral Head, Primary, 2
Platyspondyly OMIM:617383
Lymphangiectasia, Pulmonary, Congenital
Facial edema, Chylothorax, Edema, Lymphedema, Ascites, Chylous ascites, Pleural effusion, Malar f... OMIM:265300
Telangiectasia, Hereditary Hemorrhagic, Type 1
Pulmonary hemorrhage, Nasal mucosa telangiectasia, High-output congestive heart failure, Gastroin... OMIM:187300
Dravet Syndrome
Limited neck range of motion, Limited knee extension, Global brain atrophy, Cyanotic episode ORPHA:33069
Pulmonary Arteriovenous Malformation
Epistaxis, Bacterial endocarditis, Gastrointestinal infarctions, Transient ischemic attack, Pulmo... ORPHA:2038
Glutaric Aciduria Iii
Hypertension, Hyperthyroidism, Goiter OMIM:231690
Noonan Syndrome 1
Low-set ears, Hearing impairment, Micrognathia, Cryptorchidism, Sensorineural hearing impairment,... OMIM:163950
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type
Tessier cleft, Long philtrum, Cleft upper lip, Absent or minimally ossified vertebral bodies, Mic... ORPHA:93271
Breath-Holding Spells
Iron deficiency anemia, Cyanosis OMIM:607578
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Narrow mouth, Oral mucosal blisters, Abnormal esophagus morphology, Spontaneous esophageal perfor... OMIM:226600
Tolchin-Le Caignec Syndrome
Low-set ears, Abnormal vestibular function, Precocious puberty, Umbilical hernia, Micrognathia, N... OMIM:618971
Pearson Marrow-Pancreas Syndrome
Hypoplastic anemia, Type I diabetes mellitus, Erythema, Sideroblastic anemia, Pancytopenia, Villo... OMIM:557000
Microtia
Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin... ORPHA:83463
Lymphatic Malformation 8
Generalized edema, Pleural effusion, Polyhydramnios, Nonimmune hydrops fetalis, Stillbirth, Peric... OMIM:618773
Second Metatarsal-Metacarpal Syndrome
Platyspondyly, Synostosis of carpals/tarsals OMIM:269630
Pallister-Killian Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Delayed cranial suture closure, Secondar... OMIM:601803
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hypoplasia of the odontoid process, Decreased proportion of CD8-positive T cells, Lymphopenia, Mi... ORPHA:508533
Cleft Palate With Or Without Ankyloglossia, X-Linked
Bifid uvula, Ankyloglossia, Cleft palate OMIM:303400
Marbach-Schaaf Neurodevelopmental Syndrome
Downturned corners of mouth, Recurrent otitis media, Submucous cleft hard palate, Thin upper lip ... OMIM:619680
Brachyolmia Type 2
Platyspondyly OMIM:613678
Microtia With Meatal Atresia And Conductive Deafness
Conductive hearing impairment, Anotia, Aplasia/Hypoplasia of the middle ear, Wide mouth, Microtia OMIM:251800
Hyperimmunoglobulinemia D With Periodic Fever
Vasculitis, Gastrointestinal hemorrhage, Erythema, Recurrent aphthous stomatitis, Intestinal obst... ORPHA:343
Morquio Syndrome C
Platyspondyly OMIM:252300
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Joint contracture of the hand, Conductive hearing impairment, Atresia of the external auditory ca... OMIM:608257
Recessive Dystrophic Epidermolysis Bullosa Inversa
Carious teeth, Stenosis of the external auditory canal, Oral mucosal blisters, Fragile skin, Gast... ORPHA:79409
Pseudohypoparathyroidism Type 1A
Pituitary resistance to thyroid hormone, Elevated circulating calcitonin concentration, Elevated ... ORPHA:79443
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Platyspondyly, Lumbar hyperlordosis, Sensorineural hearing impairment, Cupped ribs, Beaking of ve... OMIM:609616
Gabriele-De Vries Syndrome
Low-set ears, Oral-pharyngeal dysphagia, Micrognathia, Cryptorchidism, Hypoplasia of the corpus c... ORPHA:506358
Garg-Mishra Progeroid Syndrome
Platyspondyly, Thin ribs, Dental crowding, Persistent open anterior fontanelle, Secondary microce... OMIM:620601
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Dental malocclusion, Optic disc coloboma, Recurrent otitis media, Cupped ribs, Sev... OMIM:608940
Warburg-Cinotti Syndrome
Low-set ears, Ankle flexion contracture, Hypoplasia of the ear cartilage, Erythema, Conductive he... OMIM:618175
Ollier Disease
Platyspondyly, Precocious puberty, Abnormal cartilage morphology, Lymphangioma, Anemia, Multiple ... ORPHA:296
Cardiac Valvular Dysplasia 2
Aortic regurgitation, Pulmonary artery dilatation, Ascending tubular aorta aneurysm, Tricuspid re... OMIM:620067
Thyroid Ectopia
Elevated circulating thyroid-stimulating hormone concentration, Umbilical hernia, Abnormality of ... ORPHA:95712
Pentalogy Of Cantrell
Polysplenia, Tetralogy of Fallot, Abnormal pericardium morphology, Absent gallbladder, Encephaloc... ORPHA:1335
Aorta Coarctation
Hypoplastic left heart, Congestive heart failure, Tetralogy of Fallot, Coronary artery atheroscle... ORPHA:1457
Laryngotracheoesophageal Cleft Type 4
Abnormal form of the vertebral bodies, Abnormality of the spleen, Tracheal stenosis, Tracheoesoph... ORPHA:93941
Atypical Werner Syndrome
Aortic valve stenosis, Aortic valve calcification, Subcutaneous calcification, Insulin-resistant ... ORPHA:79474
Retinitis Pigmentosa 89
Bicuspid aortic valve, Hepatosplenomegaly, Esophageal varix OMIM:618955
Pagod Syndrome
Hypoplastic left heart, Optic atrophy, Pulmonary artery hypoplasia, Abnormality of the spleen, Si... ORPHA:991
Spondyloepimetaphyseal Dysplasia, Shohat Type
Abnormal vertebral morphology, Platyspondyly, Central vertebral hypoplasia, Premature osteoarthri... ORPHA:93352
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Tracheal atresia, Coarctation of aorta, Abnormal cardiac septum morphology, Paten... OMIM:601612
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Abnormality of the dentition, Predominantly lower limb lymphedema, Abnormal sweat gland morpholog... OMIM:607823
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Platyspondyly, Abnormality of the dentition, Lumbar hyperlordosis, Genu valgum, Limited elbow ext... OMIM:271510
Calvarial Doughnut Lesions With Bone Fragility
Platyspondyly, Mixed hearing impairment, Scoliosis, Carious teeth OMIM:126550
Acute Interstitial Pneumonia
Reduced hematocrit, Peripheral edema, Pleural effusion, Cyanosis, Lymphadenopathy, Pericardial ef... ORPHA:79126
Lymphatic Malformation 7
Facial edema, Chylothorax, Lymphedema, Ascites, Increased nuchal translucency, Pleural effusion, ... OMIM:617300
Ethylene Glycol Poisoning
Hypotension, Congestive heart failure, Shock, Cyanosis, Pulmonary edema, Gastritis, Prolonged QT ... ORPHA:31826
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Carpal synostosis, Genu valgum, Micrognathia, Mitral regurgitation, Ventricular septal defect, Bi... OMIM:271640
Cardiogenic Shock
Hypotension, Right ventricular failure, Edema, Abnormal left ventricular function, Congestive hea... ORPHA:97292
Atrial Septal Defect, Ostium Secundum Type
Mitral regurgitation, Abnormal mitral valve morphology, Arrhythmia, Right atrial enlargement, Ped... ORPHA:99103
Portal Hypertension, Noncirrhotic, 2
Epistaxis, Ascites, Portal hypertension, Splenomegaly, Petechiae, Ecchymosis, Thrombocytopenia, H... OMIM:619463
Neuroocular Syndrome 1
Genu recurvatum, Low-set ears, Cupped ear, Retrognathia, Downturned corners of mouth, Umbilical h... OMIM:619539
Microsporidiosis
Lymphadenitis, Abnormality of the parathyroid gland, Dehydration, Abnormality of the spleen, Decr... ORPHA:2552
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Abnormality of the dentition, Vertebral wedging, Pteryg... OMIM:259450
Osteoglophonic Dysplasia
Platyspondyly, Low-set ears, Hypoplasia of the maxilla, Eruption failure, Delayed eruption of tee... OMIM:166250
Thanatophoric Dysplasia, Type Ii
Platyspondyly, Decreased fetal movement, Temporal lobe dysplasia, Cerebellar hypoplasia, Neonatal... OMIM:187601
Fibrochondrogenesis 2
Platyspondyly, Micrognathia, Malar flattening, Short ribs, Cupped ribs OMIM:614524
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Aortic root aneurysm, Cerebral atrophy, Talipes valgus, Generalized limb muscle atrophy, Intraute... OMIM:618891
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Congenital diaphragmatic hernia, Cryptorchidism, Ventricular septal de... OMIM:618280
Myasthenia Gravis
Rheumatoid arthritis, Hearing impairment, Primary adrenal insufficiency, Myositis, Hashimoto thyr... ORPHA:589
Cartilage-Hair Hypoplasia
Anal stenosis, Hypoplasia of the odontoid process, Flaring of lower rib cage, Lymphopenia, Lumbar... OMIM:250250
Holt-Oram Syndrome
Elbow dislocation, Cleft soft palate, Micrognathia, Mitral regurgitation, Atrioventricular dissoc... OMIM:142900
Fraser Syndrome 2
Low-set ears, Atresia of the external auditory canal, Intestinal malrotation, Narrow mouth, Hypop... OMIM:617666
Desbuquois Dysplasia 2
Platyspondyly, Bifid uvula, Dental crowding, Long philtrum, Knee dislocation, Relative macrocepha... OMIM:615777
Ablepharon-Macrostomia Syndrome
Low-set ears, Microtia, first degree, Microtia, third degree, Hearing impairment, Hypoplasia of t... OMIM:200110
Epidermolysis Bullosa Simplex With Pyloric Atresia
Muscular dystrophy, Congenital pyloric atresia, Oral mucosal blisters, Fragile skin, Skin fragili... ORPHA:158684
Bazex-Dupré-Christol Syndrome
Hypoplasia of the ear cartilage, Macrotia ORPHA:113
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Sensorineural hearing impairment, Hypodontia, Enamel hypoplasia, Dysph... OMIM:616029
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Platyspondyly, Vertebral wedging, Intestinal malrotation, Micrognathia, Short ribs, Thin upper li... OMIM:617866
Xq21 Microdeletion Syndrome
Optic atrophy, Dilatated internal auditory canal, Conductive hearing impairment, Upper limb muscl... ORPHA:1435
Infant Acute Respiratory Distress Syndrome
Hypotension, Cyanosis, Pulmonary edema, Bradycardia, Tachycardia, Cardiac arrest, Hypoxemia, Prem... ORPHA:70587
Cerebroretinal Microangiopathy With Calcifications And Cysts 2
Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Gastrointestin... OMIM:617341
Pyruvate Kinase Deficiency Of Red Cells
Cholelithiasis, Reduced red cell pyruvate kinase level, Intrauterine growth retardation, Erythroi... OMIM:266200
Stickler Syndrome, Type Iv
Platyspondyly, Genu valgum, Intervertebral space narrowing, Sensorineural hearing impairment, Sco... OMIM:614134
Necrotizing Enterocolitis
Hypotension, Shock, Abnormal heart morphology, Ascites, Leukocytosis, Cyanosis, Neutropenia, Brad... ORPHA:391673
Anemia, Congenital Dyserythropoietic, Type Ia
Macrocytic dyserythropoietic anemia, Erythroid hyperplasia, Splenomegaly, Anemia of inadequate pr... OMIM:224120
Autosomal Dominant Coarctation Of Aorta
Hypoplastic left heart, Abnormal aortic arch morphology, Aortic arch aneurysm, Ventricular septal... ORPHA:1455
Osteogenesis Imperfecta, Type X
Platyspondyly, Dentinogenesis imperfecta, Thin ribs, Relative macrocephaly, Broad ribs, Genu valg... OMIM:613848
Linear Skin Defects With Multiple Congenital Anomalies 3
Thyroid C cell hyperplasia, Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Delayed eruption... OMIM:300952
Multiple Endocrine Neoplasia, Type Iia
Thyroid C cell hyperplasia, Hyperparathyroidism, Increased circulating cortisol level, Pheochromo... OMIM:171400
Humeroradial Synostosis
Small earlobe, Humeroradial synostosis, Microtia OMIM:236400
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Platyspondyly, Hypoplasia of the odontoid process, Genu valgum, C1-C2 subluxation, Hyperlordosis,... OMIM:184250
Geroderma Osteodysplastica
Platyspondyly, Mandibular prognathia, Abnormal form of the vertebral bodies, Malar flattening, Bi... ORPHA:2078
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Pulmonary arterial hypertension, Right ventricular hypertrophy ORPHA:217563
Aortic Aneurysm, Familial Thoracic 10
Aortic root aneurysm, Dental crowding, Aortic arch aneurysm, Abdominal aortic aneurysm, Mitral re... OMIM:617168
Fanconi Anemia, Complementation Group D2
Low-set ears, Hearing impairment, Pancytopenia, Cryptorchidism, Hypoplasia of the corpus callosum... OMIM:227646
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Low-set ears, Cleft lip, Adrenal gland agenesis, Ventricular septal defect, Pulmonary artery sten... OMIM:611812
Geleophysic Dysplasia 1
Platyspondyly, Laryngotracheal stenosis, Joint contracture of the hand, Aortic valve stenosis, Lo... OMIM:231050
Atrial Septal Defect, Coronary Sinus Type
Right ventricular failure, Bundle branch block, Anomalous pulmonary venous return, Transient isch... ORPHA:99104
Hypoplastic Left Heart Syndrome
Hypoplastic left heart, Mitral atresia, Mitral stenosis, Atrial septal defect, Maternal diabetes,... ORPHA:2248
Bosma Arhinia Microphthalmia Syndrome
Absent tragus, Cleft lip, Dental malocclusion, Atresia of the external auditory canal, Conductive... OMIM:603457
Pulmonary Capillary Hemangiomatosis
Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Pleural effusion, Cyanosis, P... ORPHA:199241
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia
Axillary pterygium, Congenital pyloric atresia, Death in infancy, Oral mucosal blisters, Enamel h... OMIM:226730
Lysosomal Acid Lipase Deficiency
Hypotension, Dehydration, Adrenal calcification, Ascites, Hepatosplenomegaly, Hypersplenism, Prim... ORPHA:275761
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Platyspondyly, Aortic root aneurysm, Carpal synostosis, Kyphoscoliosis, Long upper lip, Joint con... OMIM:615349
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatomegaly, Optic atrophy, Cyanosis, Cerebral atrophy OMIM:261680
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Erythema, Eosinophilic infiltration of the esophagus, High palate, Duodenal ulcer, Dysphagia, Gas... OMIM:147060
Syndromic Diarrhea
Peripheral pulmonary artery stenosis, Abnormal heart morphology, Tetralogy of Fallot, Lymphopenia... ORPHA:84064
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Shortened QT int... ORPHA:99880
Pseudohypoparathyroidism Type 1C
Pituitary resistance to thyroid hormone, Elevated circulating parathyroid hormone level, Delayed ... ORPHA:79444
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplastic facial bones, Mandibular prognathia, Hypoplasia of the odontoid proces... OMIM:223800
Parathyroid Carcinoma
Peptic ulcer, Chondrocalcinosis, Elevated circulating parathyroid hormone level, Parathyroid carc... ORPHA:143
Carney Complex
Euthyroid multinodular goiter, Follicular thyroid carcinoma, Increased circulating cortisol level... ORPHA:1359
Hepatoportal Sclerosis
Gastrointestinal hemorrhage, Ascites, Hypersplenism, Leukopenia, Portal hypertension, Splenomegal... ORPHA:64743
Sponastrime Dysplasia
Shallow acetabular fossae, Genu valgum, Hypoplasia of the nasal bone, Neutropenia, Hip dislocatio... ORPHA:93357
Gaucher Disease Type 3
Aortic valve calcification, Abnormal heart valve morphology, Pancytopenia, Splenomegaly, Anemia, ... ORPHA:77261
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Platyspondyly, Dentinogenesis imperfecta, Precocious puberty, Type I diabetes mellitus, Periodont... OMIM:619269
Spondyloepiphyseal Dysplasia Tarda
Hypoplasia of the odontoid process, Premature osteoarthritis, Limited elbow movement, Knee osteoa... ORPHA:93284
Telangiectasia, Hereditary Hemorrhagic, Type 2
Nasal mucosa telangiectasia, Gastrointestinal angiodysplasia, Polycythemia, Facial telangiectasia... OMIM:600376
Hyperthyroidism, Nonautoimmune
Thyroid hyperplasia, Goiter, Decreased thyroid-stimulating hormone level, Increased circulating f... OMIM:609152
Vascular Ehlers-Danlos Syndrome
Aplasia/Hypoplasia of the earlobes, Carious teeth, Periodontitis, Narrow mouth, Cryptorchidism, M... ORPHA:286
Autosomal Recessive Polycystic Kidney Disease
Low-set ears, Protein-losing enteropathy, Gastrointestinal hemorrhage, Ascites, Pancreatic cysts,... ORPHA:731
Mucopolysaccharidosis, Type X
Platyspondyly, Aortic valve stenosis, Aortic regurgitation, Long philtrum, Irregular acetabular r... OMIM:619698
Hereditary Bullous Dystrophy, Macular Type
Abnormal heart morphology, Decreased testicular size, Cryptorchidism, Microcephaly, Heart murmur,... ORPHA:1867
Opsismodysplasia
Low-set ears, Hypoplasia of the odontoid process, Long philtrum, Posterior rib cupping, Oligohydr... OMIM:258480
Limb-Mammary Syndrome
Bifid uvula, Cleft lip, Absent nipple, Breast aplasia, Malar flattening, Submucous cleft soft pal... ORPHA:69085
Rajab Interstitial Lung Disease With Brain Calcifications 1
Gastroesophageal reflux, Anasarca, Cerebral atrophy, Intestinal malrotation, Dilatation of the ce... OMIM:613658
Birk-Barel Syndrome
Bifid uvula, Microretrognathia, Tented upper lip vermilion, Reduced subcutaneous adipose tissue, ... OMIM:612292
Medullary Thyroid Carcinoma
Elevated circulating calcitonin concentration, Pheochromocytoma, Medullary thyroid carcinoma, Lym... ORPHA:1332
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Gastroesophageal reflux ORPHA:1949
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Cerebral cortical atrophy, Abnormal cortical gyration, Long philtrum, Thick lower lip vermilion, ... ORPHA:314647
Hereditary Elliptocytosis
Cholelithiasis, Stomatocytosis, Abnormal erythrocyte morphology, Congenital hemolytic anemia, Spl... ORPHA:288
Spondyloocular Syndrome
Platyspondyly, Low-set ears, Webbed neck, Abnormality of the dentition, Lymphedema, Mitral valve ... OMIM:605822
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Platyspondyly, Type I diabetes mellitus, Hypoplasia of the odontoid process, Insulin-resistant di... OMIM:226980
Omenn Syndrome
Splenomegaly, Hypoplasia of the thymus, Eosinophilia, Anemia, Lymphadenopathy, Thrombocytopenia, ... OMIM:603554
Cardiac Diverticulum
Aortic valve stenosis, Mitral valve prolapse, Ventricular septal defect, Premature ventricular co... ORPHA:1686
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Hypoplastic sacrum, Lumbar hyperlordosis, Genu valgum, Limited elbow extension, Os... OMIM:271650
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Platyspondyly, Thenar muscle atrophy, Flexion contracture, Bruising susceptibility ORPHA:157965
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Hearing impairment, Downturned corners of mouth, Adrenal insufficiency, Achalasia, Orthostatic hy... OMIM:615510
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplastic facial bones, Hypoplastic acetabulae, Kyphosis, Hypoplasia of the odon... OMIM:607326
Double Outlet Left Ventricle
Cryptorchidism, Cyanosis, Abnormal right ventricular function, Ventricular septal defect, Pulmona... ORPHA:3427
Neurodevelopmental Disorder With Or Without Autism Or Seizures
Bifid uvula, Submucous cleft hard palate, Microcephaly, Atrial septal defect, Pulmonic stenosis OMIM:619239
Interstitial Pneumonitis, Desquamative, Familial
Cor pulmonale, Cyanosis OMIM:263000
Carnitine-Acylcarnitine Translocase Deficiency
Hypotension, Cardiomyopathy, Cyanosis, Rhabdomyolysis, Microcephaly, Arrhythmia, Ventricular tach... ORPHA:159
Dyskeratosis Congenita, Autosomal Dominant 3
Bone marrow hypocellularity, Gastrointestinal hemorrhage, Aplastic anemia, Oral leukoplakia, Hear... OMIM:613990
Spondylometaphyseal Dysplasia, A4 Type
Platyspondyly, Flared, irregular rib ends ORPHA:168555
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Optic atrophy, Downturned corners of mouth, Intestinal malrotation, Decreased testicular size, In... OMIM:619321
Alkaptonuria
Aortic valve calcification, Intervertebral disk degeneration, Thickened Achilles tendon, Arthropa... OMIM:203500
W Syndrome
Upper lip pit, Broad uvula, Elbow dislocation, Submucous cleft hard palate, Cubitus valgus, Campt... ORPHA:2804
Pulmonary Alveolar Microlithiasis
Right ventricular failure, Oxygen desaturation on exertion, Calcification of the aorta, Stippled ... ORPHA:60025
Isolated Arrhinia
Tessier cleft, Absent nasal septal cartilage, Hypoplasia of the nasal bone, Microtia ORPHA:1134
Spondyloperipheral Dysplasia
Platyspondyly, Acetabular spurs, Limited elbow extension, Malar flattening, Sensorineural hearing... OMIM:271700
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Congenital diaphragmatic hernia, Submucous cleft hard palate, Hyposegmentation of... ORPHA:250999
Granulomatosis With Polyangiitis
Diffuse alveolar hemorrhage, Tracheal stenosis, Subglottic stenosis, Oral ulcer, Granulomatosis, ... OMIM:608710
Laryngeal Abductor Paralysis
Microcephaly, Dysphagia, Cyanosis OMIM:150260
Vater/Vacterl Association
Abnormal vertebral morphology, Occipital encephalocele, Tetralogy of Fallot, Intrauterine growth ... OMIM:192350
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Malar flattening, Kyphos... OMIM:184100
Thoracoabdominal Syndrome
Cleft upper lip, Transposition of the great arteries, Ectopia cordis, Cystic hygroma, Anencephaly... OMIM:313850
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Cerebral cortical atrophy, Erythema, Abnormality of... ORPHA:2273
Smooth Muscle Dysfunction Syndrome
Pulmonary artery dilatation, Intestinal malrotation, Dilatation of the cerebral artery, Aortic ar... OMIM:613834
Hypoadrenocorticism, Familial
Cyanosis, Adrenal insufficiency, Adrenal hypoplasia OMIM:240200
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive
Platyspondyly, Hip osteoarthritis, Osteoarthritis OMIM:271600
Kyphomelic Dysplasia
Platyspondyly, Low-set ears, Cleft upper lip, Pterygium, Micrognathia, Undulate ribs, Anterior ri... OMIM:211350
Neurodegeneration With Brain Iron Accumulation 2B
Mental deterioration, Short attention span, Emotional lability, Hyperactivity, Dysphagia, Impulsi... OMIM:610217
Microtia-Anotia
Anotia, Holoprosencephaly, Microtia OMIM:600674
Cholestasis, Progressive Familial Intrahepatic, 5
Ascites, Pleural effusion, Death in infancy, Nonimmune hydrops fetalis, Jaundice OMIM:617049
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Micrognathia, Short neck, Anterior rib cupping, High palate, ... OMIM:271665
Ulnar Agenesis And Endocardial Fibroelastosis
Endocardial fibroelastosis, Hydrops fetalis, Neonatal death OMIM:276822
Congenital Erythropoietic Porphyria
Erythrodontia, Leukopenia, Erythroid hyperplasia, Reticulocytosis, Splenomegaly, Anisocytosis, No... ORPHA:79277
Spondyloepiphyseal Dysplasia, Kimberley Type
Platyspondyly, Osteoarthritis ORPHA:93283
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Gastroesophageal reflux, Neuropathic arthropathy, Orthostatic hypotension, Tachycardia, Acrocyano... OMIM:223900
Multiple Mitochondrial Dysfunctions Syndrome 7
Secondary microcephaly, Gingival overgrowth, Open mouth, Partial atrioventricular canal defect, H... OMIM:620423
Eosinophilic Fasciitis
Abnormal eosinophil morphology, Myositis, Muscular edema, Eosinophilia, Arthritis, Acrocyanosis, ... ORPHA:3165
Arima Syndrome
Cerebellar vermis hypoplasia, Optic atrophy, Hypoplasia of the brainstem, Gray matter heterotopia... OMIM:243910
Multiple Endocrine Neoplasia Type 4
Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:276152
Familial Dysautonomia
Optic atrophy, Gastroesophageal reflux, Orthostatic hypotension, Tachycardia, Acrocyanosis, Scoli... ORPHA:1764
Progressive Pseudorheumatoid Dysplasia
Platyspondyly, Joint contracture of the hand, Camptodactyly of finger, Sclerotic vertebral endpla... OMIM:208230
Osteogenesis Imperfecta, Type Xvii
Platyspondyly, Dentinogenesis imperfecta, Decreased muscle mass, Hearing abnormality, Kyphoscolio... OMIM:616507
Postinfectious Vasculitis
Bacterial endocarditis, Palpable purpura, Cerebral vasculitis, Cardiomyopathy, Cutis marmorata, I... ORPHA:48435
Acquired Purpura Fulminans
Macular purpura, Shock, Internal hemorrhage, Thrombocytopenia, Intracranial hemorrhage, Acrocyanosis ORPHA:49566
Occipital Horn Syndrome
Platyspondyly, Long neck, Persistent open anterior fontanelle, Long philtrum, Bruising susceptibi... OMIM:304150
Hepatoerythropoietic Porphyria
Erythrodontia, Erythroid hyperplasia, Splenomegaly, Nonimmune hydrops fetalis, Increased fecal po... ORPHA:95159
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Abnormal gastrointestinal tract morphology, Esophageal neoplasm, Sensori... ORPHA:1018
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Cochlear aplasia, Abnormal semicircular canal morpho... OMIM:619274
Smith-Mccort Dysplasia 2
Platyspondyly, Hypoplasia of the odontoid process, Enlarged interphalangeal joints, Genu valgum, ... OMIM:615222
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Synostosis of carpal bones, Abnormal joint morphology, Genu valgum, Osteoarthritis... ORPHA:93351
Zollinger-Ellison Syndrome
Erythema, Increased circulating cortisol level, Pituitary prolactin cell adenoma, Increased urina... ORPHA:913
Portal Hypertension, Noncirrhotic, 1
Hepatomegaly, Portal hypertension, Splenomegaly, Esophageal varix OMIM:617068
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Abnormal joint morphology, Lumbar scoliosis, Cerebral white matter atrophy, Short neck, Genu varu... ORPHA:99646
Hyperoxaluria, Primary, Type I
Optic atrophy, Atrioventricular block, Arterial occlusion, Cutis marmorata, Intermittent claudica... OMIM:259900
Primary Hyperoxaluria
Abnormality of the dentition, Optic atrophy, Abnormal dental pulp morphology, Arterial occlusion,... ORPHA:416
Cryptogenic Organizing Pneumonia
Hypoxemia, Leukocytosis, Cyanosis, Neutrophilia ORPHA:1302
Tuberous Sclerosis Complex
Pituitary adenoma, Generalized abnormality of skin, Pheochromocytoma, Cardiac rhabdomyoma, Pulmon... ORPHA:805
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Igg4-Related Dacryoadenitis And Sialadenitis
Facial edema, Enlarged lacrimal glands, Xerostomia, Abnormality of the submandibular glands, Opti... ORPHA:79078
Telangiectasia, Hereditary Hemorrhagic, Type 4
Arteriovenous fistulas of celiac and mesenteric vessels, Spinal arteriovenous malformation, Right... OMIM:610655
Hereditary Hemorrhagic Telangiectasia
Arteriovenous malformation, Nasal mucosa telangiectasia, Telangiectasia, Esophageal varix, Retina... ORPHA:774
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplastic acetabulae, Abnormality of the ankle, Hypoplasia of the odontoid proce... ORPHA:239
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Gastroesophageal reflux, Eosinophilic microabscess formation in the esophagus, Esophagitis, Abnor... ORPHA:411696
Primary Biliary Cholangitis
Dermatographic urticaria, Ascites, Abnormality of the thyroid gland, Portal hypertension, Splenom... ORPHA:186
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Kyphosis, Vertebral wedging, Abnormality of th... ORPHA:93314
Wilson Disease
Chondrocalcinosis, Edema, Ascites, Decreased nerve conduction velocity, Hepatocellular carcinoma,... OMIM:277900
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Platyspondyly, Thin ribs, Multiple joint dislocation, Knee dislocation, Narrow vertebral interped... OMIM:618395
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Erythema, Telangiectasia, Fragile skin, Abnormality of the knee, Cutaneous photosensitivity, Esop... ORPHA:158673
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Multiple joint dislocation, Kyphosis, Elbow flexion contra... ORPHA:93360
Spondyloepimetaphyseal Dysplasia, Shohat Type
Platyspondyly, Central vertebral hypoplasia, Lumbar hyperlordosis, Splenomegaly, Short ribs, Narr... OMIM:602557
Lacrimoauriculodentodigital Syndrome 1
Carious teeth, Cupped ear, Hearing impairment, Xerostomia, Lacrimal gland hypoplasia, Delayed eru... OMIM:149730
Atresia Of External Auditory Canal And Conductive Deafness
Stenosis of the external auditory canal, Conductive hearing impairment, Atresia of the external a... OMIM:108760
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Platyspondyly, Thoracolumbar kyphosis, Lymphopenia, Death in infancy, Kyphoscoliosis, Eosinophili... OMIM:617425
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness
Fetal polyuria, Hyperaldosteronism, Sensorineural hearing impairment, Polyhydramnios, Hydrops fet... OMIM:602522
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy, Achalasia ORPHA:2400
Metaphyseal Chondrodysplasia, Schmid Type
Abnormal vertebral morphology, Platyspondyly, Osteosclerosis of ribs, Lumbar hyperlordosis, Anter... ORPHA:174
Alström Syndrome
Testicular fibrosis, Decreased circulating T4 concentration, Hepatosplenomegaly, Hyperinsulinemia... ORPHA:64
Dyskeratosis Congenita, X-Linked
Optic atrophy, Bone marrow hypocellularity, Carious teeth, Oral leukoplakia, Premature graying of... OMIM:305000
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Death in infancy, Neonatal death, Pulmonary arterial hypertension, Misalignment of the ... OMIM:265120
Deafness, Autosomal Dominant 44
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:607453
Deafness, Autosomal Dominant 86
Tinnitus, Abnormal vestibular function, Abnormal inner ear morphology, Sensorineural hearing impa... OMIM:620280
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:424
Choanal Atresia
Craniosynostosis, Subglottic stenosis, Cyanosis, Chronic sinusitis ORPHA:137914
Idiopathic Pulmonary Fibrosis
Pulmonary insufficiency, Orthodeoxia, Acrocyanosis, Gastroesophageal reflux ORPHA:2032
Metaphyseal Chondrodysplasia, Schmid Type
Platyspondyly, Distal tibial bowing, Irregular acetabular roof, Lumbar hyperlordosis, Genu valgum... OMIM:156500
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Cyanosis, Microcephaly, Polycythemia, Methemoglobinemia OMIM:250800
Dyskeratosis Congenita, Autosomal Recessive 1
Bone marrow hypocellularity, Carious teeth, Aplastic anemia, Oral leukoplakia, Pterygium, Pancyto... OMIM:224230
Pseudoachondroplasia
Platyspondyly, Genu recurvatum, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Kyp... OMIM:177170
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, Thymus hyperplasia, Cerebral atrophy, C... OMIM:619036
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis, Foam cells ORPHA:747
Familial Gestational Hyperthyroidism
Activating thyroid-stimulating hormone receptor defect, Thyroid hyperplasia, Goiter, Hyperthyroid... ORPHA:99819
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Irregular acetabular roof, Enlarged joints, El... OMIM:184252
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Dehydration, Oligohydramnios, Portal hypertension, Splenomegaly, Neonatal death, Hematemesis, Hep... OMIM:263200
Pseudohypoparathyroidism Type 2
Prolonged QT interval, Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism ORPHA:94090
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Cardiomyopathy, Splenomegaly, Polycystic ovaries, Anemia, Increased sarc... ORPHA:264580
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Dermatomyositis
Erythema, Abnormal eosinophil morphology, Arrhythmia, Periorbital edema, Cutaneous photosensitivi... ORPHA:221
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence
Submucous cleft hard palate, Premature ventricular contraction, Syncope, Tachycardia, Posteriorly... OMIM:192445
Criss-Cross Heart
Supravalvular aortic stenosis, Mitral stenosis, Abnormal mitral valve morphology, Ventricular sep... ORPHA:1461
Kindler Epidermolysis Bullosa
Erythema, Inflammation of the large intestine, Carious teeth, Periodontitis, Camptodactyly of fin... ORPHA:2908
Carney Complex, Type 1
Palatine myxoma, Pituitary adenoma, Congestive heart failure, Pheochromocytoma, Thyroid carcinoma... OMIM:160980
Encephalopathy, Ethylmalonic
Focal T2 hyperintense basal ganglia lesion, Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Progeroid Short Stature With Pigmented Nevi
Aortic valve stenosis, High-frequency hearing impairment, Abnormal joint morphology, Irregular de... OMIM:176690
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Thin ribs, Hypoplasia of the pons, Cerebellar hypoplasia, Schizencephaly, Scoliosis OMIM:615220
Congenital Total Pulmonary Venous Return Anomaly
Atrial situs ambiguous, Mitral regurgitation, Ventricular septal defect, Atrial septal defect, De... ORPHA:99125
Cleft Soft Palate
Cleft soft palate OMIM:119570
Budd-Chiari Syndrome
Gastrointestinal hemorrhage, Ascites, Gastrointestinal infarctions, Portal hypertension, Splenome... ORPHA:131
Craniotubular Dysplasia, Ikegawa Type
Platyspondyly, Optic atrophy, Hearing impairment, Long philtrum, Thick lower lip vermilion, Thick... OMIM:619727
Spondyloepimetaphyseal Dysplasia, Genevieve Type
Platyspondyly, Reduced cerebral white matter volume, Cerebral atrophy, Thick lower lip vermilion,... OMIM:610442
Fanconi Anemia, Complementation Group Q
Low-set ears, Bone marrow hypocellularity, Anteriorly placed anus, Microcephaly, Esophageal atres... OMIM:615272
Combined Immunodeficiency-Enteropathy Spectrum
Type I diabetes mellitus, Jejunoileal ulceration, Intestinal malrotation, Autoimmune hemolytic an... ORPHA:436252
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Dentinogenesis imperfecta, Thin ribs, Wormian bones, Vertebral compression fractur... OMIM:610915
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Posterior rib cupping, Lumbar hyperlordosis, Limited elbow extension, Flat acetabu... OMIM:608728
Dyskeratosis Congenita, Autosomal Dominant 6
Abnormality of the dentition, Bone marrow hypocellularity, Aplastic anemia, Oral leukoplakia, Int... OMIM:616553
Ataxia-Telangiectasia
Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnormal B cell count, T lympho... OMIM:208900
Deafness, Autosomal Dominant 77
Tinnitus, Abnormal inner ear morphology, Sensorineural hearing impairment OMIM:618915
Pmm2-Cdg
Increased circulating prolactin concentration, Hyperinsulinemia, Aplasia of the ovary, Impaired n... ORPHA:79318
Infantile Liver Failure Syndrome 3
Platyspondyly, Abnormal acetabulum morphology, Splenomegaly, Death in childhood, Hypoplastic vert... OMIM:618641
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Methemoglobinemia, Elevated circulating luteinizing hormone level, Decreased circulatin... OMIM:250790
Norrie Disease
Cerebral cortical atrophy, Abnormal helix morphology, Optic atrophy, Cryptorchidism, Malar flatte... ORPHA:649
Rhizomelic Dysplasia, Ain-Naz Type
Platyspondyly OMIM:619598
Dyskeratosis Congenita, Autosomal Dominant 2
Abnormality of the dentition, Bone marrow hypocellularity, Dilated cardiomyopathy, Aplastic anemi... OMIM:613989
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Mitochondrial Phosphate Carrier Deficiency
Hypertrophic cardiomyopathy, Cyanosis OMIM:610773
Spondylometaphyseal Dysplasia, Pagnamenta Type
Platyspondyly, Wormian bones, Thoracic kyphosis OMIM:619638
Occipital Horn Syndrome
Synostosis of joints, Platyspondyly, High, narrow palate, Gastroesophageal reflux, Kyphosis, Brui... ORPHA:198
Pseudohypoparathyroidism, Type Ii
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:203330
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Pterygium, Wormian bones, Scoliosis, Kyphosis ORPHA:2771
Renal, Genital, And Middle Ear Anomalies
Abnormality of the middle ear ossicles, Hearing impairment OMIM:267400
Pseudohypoparathyroidism, Type Ib
Elevated circulating parathyroid hormone level, Pseudohypoparathyroidism OMIM:603233
Ethylmalonic Encephalopathy
Petechiae, Acrocyanosis, Abnormal basal ganglia MRI signal intensity ORPHA:51188
Rhizomelic Dysplasia, Patterson-Lowry Type
Platyspondyly OMIM:601438
Bent Bone Dysplasia Syndrome 2
Platyspondyly, Webbed neck, Thin ribs, Hypoplastic acetabulae, Intrauterine growth retardation, B... OMIM:620076
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Intestinal pseudo-obstruction, Abnormal gastric mucosa morphology, Abnor... ORPHA:1876
Dyskeratosis Congenita, Autosomal Recessive 5
Bone marrow hypocellularity, Intrauterine growth retardation, Leukopenia, Cerebellar hypoplasia, ... OMIM:615190
Non-Syndromic Posterior Hypospadias
Androgen insufficiency, Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of the endoc... ORPHA:95706
Bencze Syndrome
Open bite, Submucous cleft hard palate ORPHA:1241
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Kindler Syndrome
Anal stenosis, Carious teeth, Periodontitis, Oral leukoplakia, Amniotic constriction ring, Telang... OMIM:173650
Bruck Syndrome 2
Platyspondyly, Elbow flexion contracture, Pterygium, Knee flexion contracture, Wormian bones, Fle... OMIM:609220
Cowden Syndrome 7
Goiter, Intestinal polyposis, Hashimoto thyroiditis, Ductal carcinoma in situ, Macrocephaly, Papi... OMIM:616858
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Progressive congenital scoliosis, Congenital hip dislocation, Platyspondyly, Gastrointestinal hem... OMIM:225400
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Polycythemia, Hypertrophic cardiomyopathy, Portal hypertension, Splenomegaly, Microcephaly, Jaund... ORPHA:309854
Visceral Myopathy, Familial, With External Ophthalmoplegia
Vascular dilatation, Spontaneous esophageal perforation OMIM:277320
Senior-Boichis Syndrome
Ascites, Hepatosplenomegaly, Portal hypertension, Diffuse cerebral atrophy, Carotid artery dilata... ORPHA:84081
Cholestasis, Progressive Familial Intrahepatic, 8
Portal hypertension, Hepatomegaly, Jaundice, Bile duct proliferation, Esophageal varix OMIM:619662
Plummer-Vinson Syndrome
Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Iron deficiency anemia, Hypochromic m... ORPHA:54028
Geleophysic Dysplasia 3
Long philtrum, Tracheal stenosis, Subglottic stenosis, Polyhydramnios, Mitral regurgitation, Limi... OMIM:617809
Chronic Pneumonitis Of Infancy
Hypoxemia, Mediastinal lymphadenopathy, Cyanosis ORPHA:91359
Caroli Disease
Cholelithiasis, Ascites, Portal hypertension, Splenomegaly, Leukocytosis, Cholangiocarcinoma, Hep... ORPHA:53035
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8
Increased mean corpuscular volume, Premature graying of hair, Portal hypertension, Splenomegaly, ... OMIM:620367
Tracheobronchopathia Osteochondroplastica
Calcification of cartilage, Tracheal stenosis, Esophagitis ORPHA:3348
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, 11 pairs of ribs, Porencephalic cyst, Short ribs, Cupped ribs, Arrhythmia, Short n... OMIM:250220
Hemifacial Hyperplasia With Strabismus
Submucous cleft hard palate OMIM:141350
Laryngotracheoesophageal Cleft
Cyanosis, Impaired oropharyngeal swallow response ORPHA:2004
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Bifid uvula, Tooth malposition, Hypoplasia of the olfactory bulb, Failure of eruption of permanen... ORPHA:2250
Severe Generalized Junctional Epidermolysis Bullosa
Abnormal oral mucosa morphology, Dilated cardiomyopathy, Edema, Dehydration, Erosion of oral muco... ORPHA:79404
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Cerebral atrophy, Thick lower lip vermilion, Wide mouth, Mitral reg... OMIM:208400
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Conjunctival telangiectasia, Multinodular goiter, Premature loss of teeth OMIM:618373
Spondyloepimetaphyseal Dysplasia, Missouri Type
Pear-shaped vertebrae, Platyspondyly, Limited elbow extension, Genu varum, Osteoarthritis, Flared... OMIM:602111
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck OMIM:184095
Dyskeratosis Congenita, Autosomal Recessive 8
Bone marrow hypocellularity, Inflammation of the large intestine, Reduced natural killer cell cou... OMIM:620133
Lowry-Wood Syndrome
Platyspondyly, Elbow dislocation, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Patell... ORPHA:1824
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Carious teeth, Dilated cardiomyopathy, Foot joint contracture, Gastroesophageal reflux, Anal fiss... ORPHA:79408
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Cyanosis, Death in infancy, Neonatal death OMIM:610921
Tracheal Agenesis
Tracheal atresia, Polyhydramnios, Abnormal cardiac septum morphology ORPHA:3346
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Cirrhosis, Familial
Ascites, Pulmonary arterial hypertension, Jaundice, Hypertension, Esophageal varix OMIM:215600
Brachyolmia Type 3
Platyspondyly, Short neck, Scoliosis, Kyphosis OMIM:113500
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Joint dislocation, Thoracic platyspondyly, Genu valgum, Li... OMIM:618019
Chronic Graft Versus Host Disease
Erythema, Gastroesophageal reflux, Xerostomia, Poor wound healing, Ascites, Pancytopenia, Abnorma... ORPHA:99921
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Elevated circulating parathyroid hormone level, Cerebral calcification, Calvarial osteosclerosis,... OMIM:617994
Multiple Epiphyseal Dysplasia Type 5
Multiple small vertebral fractures, Premature osteoarthritis, Abnormal hip joint morphology, Genu... ORPHA:93311
Familial Multinodular Goiter
Sertoli cell neoplasm, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Multinodular goiter, Testicu... ORPHA:276399
Caroli Syndrome
Hypersplenism, Leukopenia, Portal hypertension, Leukocytosis, Jaundice, Hematemesis, Cholangiocar... ORPHA:480520
Thalidomide Embryopathy
Abnormality of the outer ear, Anotia, Hearing impairment ORPHA:3312
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Pulmonary arterial hypertension, Cyanosis OMIM:610913
Osteogenesis Imperfecta, Type Xxi
Platyspondyly, Wormian bones, Scoliosis OMIM:619131
Hypophosphatemic Rickets And Hyperparathyroidism
Hyperparathyroidism, Rachitic rosary, Elevated circulating parathyroid hormone level, Macrocephal... OMIM:612089
Sillence Syndrome
Abnormal vertebral morphology, Platyspondyly, Intervertebral disk degeneration, Camptodactyly, Fl... ORPHA:3168
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Global brain atrophy, Gastroesophageal reflux, Cerebral atrophy, Death in childhood, Cyanosis, De... OMIM:618426
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Knee flexion contracture, Weakness of facial musculature, Hyperintensity of cerebral wh... OMIM:617239
Stevens-Johnson Syndrome
Erythema, Gastrointestinal hemorrhage, Abnormal myocardium morphology, Dysphagia, Thrombocytopeni... ORPHA:36426
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Parathyroid agenesis, Congenital hypoparathyroidism ORPHA:2239
Tracheoesophageal Fistula With Or Without Esophageal Atresia
Tracheoesophageal fistula, Esophageal atresia OMIM:189960
Immunodeficiency 12
Recurrent aphthous stomatitis, Death in adolescence, Abnormal lymphocyte count, Cheilitis, Esopha... OMIM:615468
Mounier-Kühn Syndrome
Tracheal stenosis ORPHA:3347
Congenital Respiratory-Biliary Fistula
Tracheal stenosis ORPHA:2040
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Cupped ribs, Scoliosis, Ovoid vertebral bodies ORPHA:85167
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Joint contracture of the hand, Kyphosis, Wrist swelling, Camptodactyly of finger, ... OMIM:309000
Spondylometaphyseal Dysplasia, Sedaghatian Type
Platyspondyly, Atrioventricular block, Pachygyria, Agenesis of corpus callosum, Cerebellar hypopl... ORPHA:93317
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Biconcave vertebral bodies, Kyphoscoliosis, Ventricular septal defect, Microcephal... OMIM:259770
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Genu valgum, Kyphoscoliosis, Carpal bone hypoplasia, Anterio... OMIM:184253
Bifid Uvula
Bifid uvula, Cleft lip, Submucous cleft soft palate ORPHA:99771
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome
Parathyroid hypoplasia, Progressive sensorineural hearing impairment, Abnormal heart morphology, ... ORPHA:2237
Czech Dysplasia
Platyspondyly, Thoracic kyphosis, Intervertebral space narrowing, Flexion contracture, Scoliosis,... OMIM:609162
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Anterior wedging of T12, Hypoplasia of the maxilla, Kyphosis, Hypoplasia of the od... OMIM:300106
Familial Bicuspid Aortic Valve
Aortic valve stenosis, Aortic regurgitation, Aortic valve calcification, Hypoplastic left heart, ... ORPHA:402075
Barrett Esophagus
Barrett esophagus, Esophageal carcinoma, Gastroesophageal reflux, Esophageal ulceration OMIM:614266
Goodpasture Syndrome
Anemia, Pulmonary hemorrhage, Cyanosis OMIM:233450
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets
Duodenal ulcer, Gastric ulcer, Iron deficiency anemia, Esophageal ulceration OMIM:618372

Histopathology

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

There is no histopathology data for Chrd

IMPC related publications

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

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

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MGI Allele Allele Type Produced
Chrdtm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells
Chrdtm1e(KOMP)Mbp Targeted, non-conditional allele ES Cells
Chrdtm1a(KOMP)Mbp KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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