Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
forkhead box H1
Synonyms:
Fast2

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Foxh1 mutations

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

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

The table below shows human diseases predicted to be associated to Foxh1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Right Atrial Isomerism
Right atrial isomerism, Situs inversus totalis, Single ventricle, Abdominal situs ambiguus, Aorto... OMIM:208530
Heterotaxy, Visceral, 7, Autosomal
Atrial septal defect, Situs inversus totalis, Interrupted aortic arch, Abnormal tricuspid valve m... OMIM:616749
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cryptorchidism, Ventricular septal defect, Micrognathia, Abnormal aortic morphology, Tooth agenes... ORPHA:1166
Aminopterin/Methotrexate Embryofetopathy
Aplasia/Hypoplasia of the cerebellum, Mandibular prognathia, Spinal dysraphism, Anencephaly, Micr... ORPHA:1908
Pseudotrisomy 13 Syndrome
Cryptorchidism, Omphalocele, Dextrocardia, Hydrocephalus, Postaxial hand polydactyly, Cyclopia, C... OMIM:264480
Mullegama-Klein-Martinez Syndrome
Bulbous nose, Polydactyly, Sensorineural hearing impairment, Congenital diaphragmatic hernia, Mic... OMIM:301022
Microphthalmia, Syndromic 9
Cryptorchidism, Single ventricle, Patent ductus arteriosus, Multilobulated spleen, Anophthalmia, ... OMIM:601186
Holoprosencephaly
Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Abnormality of the antihelix, Spinal dysrap... ORPHA:2162
Primary Ciliary Dyskinesia
Bronchiectasis, Nasal polyposis, Intestinal malrotation, Atrial situs ambiguous, Double outlet ri... ORPHA:244
Trisomy 18
Cryptorchidism, Narrow palate, Narrow mouth, Choanal atresia, Iris coloboma, Anencephaly, Omphalo... ORPHA:3380
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Atrial septal defect, Hypertelorism, Single ventricle, Ventricular septa... OMIM:306955
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Atrial septal defect, Pachygyria, Frontal bossing, Ventricular septal defect, Hypoplasia of the c... OMIM:603387
Chromosome 13Q33-Q34 Deletion Syndrome
Cryptorchidism, Open mouth, Camptodactyly, Patent ductus arteriosus, Choanal atresia, Anencephaly... OMIM:619148
Recombinant Chromosome 8 Syndrome
Cryptorchidism, Downturned corners of mouth, Camptodactyly, Patent ductus arteriosus, Double outl... OMIM:179613
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Mandibular aplasia, Aplasia/Hypoplasia of the cerebellum, Situs inversus totalis, Narrow mouth, N... ORPHA:990
14Q11.2 Microdeletion Syndrome
Long philtrum, Toe syndactyly, Short nose, Narrow mouth, Ventricular septal defect, Hypertelorism... ORPHA:261120
Cardiofacioneurodevelopmental Syndrome
Cryptorchidism, Hypertelorism, Hypotelorism, Ventricular septal defect, Micrognathia, Camptodacty... OMIM:619123
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Camptodactyly of finger, Cryptorchidism, Wormian bones, Abnormality of... ORPHA:2863
Partial Atrioventricular Septal Defect
Anomalous pulmonary venous return, Abnormal tricuspid valve morphology, Coarctation of aorta, Pat... ORPHA:1330
Microform Holoprosencephaly
EMG: myopathic abnormalities, Choanal atresia, Iris coloboma, Oral cleft, Solitary median maxilla... ORPHA:280200
Mosaic Trisomy 9
Cryptorchidism, Bulbous nose, Large fontanelles, Patent ductus arteriosus, Intestinal malrotation... ORPHA:99776
Hypoglossia With Situs Inversus
Situs inversus totalis, Narrow mouth, Polysplenia, Hypodontia, Microglossia, Asplenia, High palat... OMIM:612776
Heterotaxy, Visceral, 4, Autosomal
Ventricular septal defect, Dextrocardia, Atrioventricular canal defect, Right aortic arch, Ectopi... OMIM:613751
Cardioacrofacial Dysplasia 2
Genu valgum, Short philtrum, Accessory oral frenulum, Postaxial hand polydactyly, Hypertelorism, ... OMIM:619143
Genitopalatocardiac Syndrome
Ventricular septal defect, Micrognathia, Double outlet right ventricle, Cleft upper lip, Cleft pa... OMIM:231060
Emanuel Syndrome
Cryptorchidism, Congenital hip dislocation, Dental crowding, Patent ductus arteriosus, Broad jaw,... OMIM:609029
16P13.11 Microdeletion Syndrome
Cryptorchidism, Atresia of the external auditory canal, Sensorineural hearing impairment, Exagger... ORPHA:261236
Scimitar Syndrome
Single ventricle, Patent ductus arteriosus, Bronchogenic cyst, Dextrocardia, Left superior vena c... ORPHA:185
Lowry-Maclean Syndrome
Craniosynostosis, Downturned corners of mouth, Choanal atresia, Small anterior fontanelle, Trigon... ORPHA:2409
Heterotaxy, Visceral, 2, Autosomal
Situs inversus totalis, Polysplenia, Abdominal situs inversus, Intestinal malrotation, Dextrocard... OMIM:605376
Sweeney-Cox Syndrome
Narrow mouth, Underdeveloped nasal alae, Overfolded helix, Choanal atresia, Short clavicles, High... OMIM:617746
Cerebrooculonasal Syndrome
Craniosynostosis, Narrow palate, Downturned corners of mouth, Solitary median maxillary central i... OMIM:605627
Congenital Heart Defects, Multiple Types, 6
Hypoplastic pulmonary veins, Single ventricle, Ventricular septal defect, Complete atrioventricul... OMIM:613854
Holoprosencephaly 13, X-Linked
Patent ductus arteriosus, Solitary median maxillary central incisor, Double outlet right ventricl... OMIM:301043
Holoprosencephaly 2
Median cleft lip and palate, Absent nasal septal cartilage, Adrenal hypoplasia, Single ventricle,... OMIM:157170
Developmental Delay With Or Without Dysmorphic Facies And Autism
Cryptorchidism, Bulbous nose, Laryngotracheomalacia, Patent ductus arteriosus, Cerebral cortical ... OMIM:618454
Ritscher-Schinzel Syndrome 1
Coloboma, Double outlet right ventricle, Micrognathia, Hydrocephalus, Depressed nasal bridge, Aor... OMIM:220210
Ciliary Dyskinesia, Primary, 37
Situs inversus totalis, Goiter, Bronchiectasis, Hypothyroidism, Dextrocardia, Hearing impairment,... OMIM:617577
Fryns Syndrome
Cryptorchidism, Intestinal malrotation, Omphalocele, Short distal phalanx of finger, Cerebral cor... ORPHA:2059
Double Outlet Right Ventricle
Truncus arteriosus, Narrow mouth, Hypertelorism, Ventricular septal defect, Intestinal malrotatio... ORPHA:3426
Holoprosencephaly-Postaxial Polydactyly Syndrome
Cryptorchidism, Hypoplasia of the premaxilla, Narrow mouth, Intestinal malrotation, Omphalocele, ... ORPHA:2166
Trisomy 1Q
Cryptorchidism, Narrow mouth, Patent ductus arteriosus, Omphalocele, Anophthalmia, Abnormality of... ORPHA:261344
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Atresia of the external auditory canal, Iris coloboma, Omphalocele, Oral cleft, Phocomelia, Absen... ORPHA:3186
Mosaic Trisomy 1
Hepatic agenesis, Omphalocele, Small anterior fontanelle, Oral cleft, Long toe, Congenital diaphr... ORPHA:1692
Meckel Syndrome, Type 1
Cryptorchidism, Natal tooth, Patent ductus arteriosus, Intestinal malrotation, Anencephaly, Iris ... OMIM:249000
Johnson Neuroectodermal Syndrome
Carious teeth, Choanal stenosis, Ventricular septal defect, Conductive hearing impairment, Decrea... OMIM:147770
Gillessen-Kaesbach-Nishimura Syndrome
Underdeveloped nasal alae, Omphalocele, Narrow greater sciatic notch, Congenital diaphragmatic he... OMIM:263210
8P23.1 Microdeletion Syndrome
Cryptorchidism, Thin vermilion border, Broad thumb, Broad hallux phalanx, Patent ductus arteriosu... ORPHA:251071
Dextrocardia With Unusual Facies And Microphthalmia
Macrotia, Micrognathia, Anophthalmia, Dextrocardia, Microphthalmia, Cleft palate, Supernumerary r... OMIM:221950
Renpenning Syndrome
Narrow mouth, Mandibular prognathia, Iris coloboma, Sensorineural hearing impairment, Skeletal mu... ORPHA:3242
Tonne-Kalscheuer Syndrome
Cryptorchidism, Broad thumb, Narrow mouth, Downturned corners of mouth, Abnormal heart morphology... OMIM:300978
Microphthalmia, Syndromic 12
Cryptorchidism, Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Wide nasal brid... OMIM:615524
Trisomy 13
Cryptorchidism, Abnormality of the antihelix, Calvarial skull defect, Patent ductus arteriosus, I... ORPHA:3378
Stevenson-Carey Syndrome
Hip dysplasia, Atrial septal defect, Narrow mouth, Underdeveloped nasal alae, Downturned corners ... OMIM:611961
Catel-Manzke Syndrome
Cryptorchidism, Ventricular septal defect, Micrognathia, Coarctation of aorta, Pectus excavatum, ... OMIM:616145
Heart And Brain Malformation Syndrome
Global brain atrophy, High, narrow palate, Depressed nasal bridge, Wide anterior fontanel, Hypopl... OMIM:616920
Distal Monosomy 17Q
Abnormal thumb morphology, Narrow mouth, Abnormality of the philtrum, Aplasia/Hypoplasia of the u... ORPHA:1597
Renal-Hepatic-Pancreatic Dysplasia 2
Situs inversus totalis, Truncus arteriosus, Cholestasis, Hepatic fibrosis, Pulmonic stenosis, Aor... OMIM:615415
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Short distal phalanx of... OMIM:601355
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Cryptorchidism, Narrow mouth, Dental crowding, Camptodactyly, Mandibular prognathia, Decreased te... OMIM:300998
Progeroid Facial Appearance With Hand Anomalies
Thin vermilion border, Short philtrum, Narrow mouth, Frontal bossing, Conductive hearing impairme... OMIM:602249
Congenital Heart Defects And Skeletal Malformations Syndrome
Cryptorchidism, Carious teeth, Atrial septal defect, Short nose, Ventricular septal defect, Denta... OMIM:617602
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Clubbing of fingers, Cryptorchidism, Atrial septal defect, Hypertelorism, Macrotia, High palate, ... ORPHA:3304
Microgastria-Limb Reduction Defects Association
Cryptorchidism, Secundum atrial septal defect, Intestinal malrotation, Biliary tract abnormality,... OMIM:156810
Distal Monosomy 13Q
Hypertelorism, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Primary adrenal insu... ORPHA:1590
Emanuel Syndrome
Cryptorchidism, Congenital hip dislocation, Dental crowding, Submucous cleft lip, Patent ductus a... ORPHA:96170
Acitretin/Etretinate Embryopathy
Aplasia/hypoplasia involving bones of the upper limbs, Aplasia/Hypoplasia of the optic nerve, Hig... ORPHA:40366
Pentalogy Of Cantrell
Atrial septal defect, Abnormality of tibia morphology, Ventricular septal defect, Absent gallblad... ORPHA:1335
15Q24 Microdeletion Syndrome
Cryptorchidism, Narrow mouth, Coloboma, Congenital diaphragmatic hernia, Depressed nasal bridge, ... ORPHA:94065
Donnai-Barrow Syndrome
Hypertelorism, Short nose, Aplasia/Hypoplasia of the corpus callosum, Ventricular septal defect, ... ORPHA:2143
Marden-Walker Syndrome
Hypoplasia of the brainstem, Cryptorchidism, Narrow mouth, Camptodactyly, Dextrocardia, Inferior ... OMIM:248700
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Right aortic arch with mirror image branching, Dextrocardia, Pulmo... OMIM:606217
22Q11.2 Duplication Syndrome
Hypertelorism, Interrupted aortic arch, Ventricular septal defect, Midface retrusion, Depressed n... ORPHA:1727
Mental Retardation, Autosomal Dominant 21
Long philtrum, Thin vermilion border, Atrial septal defect, Cryptorchidism, Narrow mouth, Hyperte... OMIM:615502
Dextrocardia
Meckel diverticulum, Abnormality of the ribs, Situs inversus totalis, Congenital hip dislocation,... ORPHA:1666
Monosomy 13Q34
Postaxial hand polydactyly, Abnormality of earlobe, Hypertelorism, Hematochezia, Hepatic steatosi... ORPHA:96168
Solitary Median Maxillary Central Incisor
Abnormal nasopharynx morphology, Coloboma, Cyclopia, Holoprosencephaly, Pyriform aperture stenosi... OMIM:147250
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Cryptorchidism, Patent ductus arteriosus, Pulmonary artery atresia, Double outlet right ventricle... OMIM:618316
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Dextrocardia, Asplenia, Situs inversus totalis OMIM:618948
Xk Aprosencephaly Syndrome
Abnormal morphology of the radius, Atrial septal defect, Narrow mouth, Ventricular septal defect,... ORPHA:3469
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Long philtrum, Short philtrum, Cryptorchidism, Thickened helices, Hypertelorism, Macrocephaly, In... OMIM:618929
Donnai-Barrow Syndrome
Intestinal malrotation, Iris coloboma, Omphalocele, Sensorineural hearing impairment, Congenital ... OMIM:222448
Craniofrontonasal Dysplasia
Craniosynostosis, Broad hallux phalanx, Sandal gap, Oral cleft, Sensorineural hearing impairment,... ORPHA:1520
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormality of the ribs, Anomalous pulmonary venous return, Spina bifida, Atrial septal defect, P... ORPHA:1120
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Misalignment of the pulmonary veins, Posterior rib fusion, Patent ductus arteriosus, Intestinal m... OMIM:265380
Floating-Harbor Syndrome
Cryptorchidism, Thin vermilion border, Atrial septal defect, Downturned corners of mouth, Conduct... OMIM:136140
Microgastria-Limb Reduction Defect Syndrome
Absent hand, Congenital muscular torticollis, Intestinal malrotation, Abnormality of the metacarp... ORPHA:2538
Velocardiofacial Syndrome
Right aortic arch with mirror image branching, Cryptorchidism, Bulbous nose, Interrupted aortic a... OMIM:192430
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Convex nasal ridge, Carious teeth, Narrow mouth, Downturned corners of mouth, Macrotia, Abnormal ... ORPHA:1110
Chromosome 1Q41-Q42 Deletion Syndrome
Cryptorchidism, Frontal bossing, Holoprosencephaly, Deeply set eye, Congenital diaphragmatic hern... OMIM:612530
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Hip dysplasia, Thin vermilion border, Short nose, Narrow mouth, Low-set, posteriorly rotated ears... ORPHA:2370
8P Inverted Duplication/Deletion Syndrome
Cryptorchidism, Small hypothenar eminence, Dextrocardia, High, narrow palate, Micrognathia, Preco... ORPHA:96092
Chromosome 14Q11-Q22 Deletion Syndrome
Long philtrum, Cryptorchidism, Short nose, Narrow mouth, Ventricular septal defect, Hypoplasia of... OMIM:613457
Pseudoaminopterin Syndrome
Clubbing of fingers, Cryptorchidism, Hip subluxation, Postaxial polydactyly, Oral cleft, Clinodac... ORPHA:221120
Cooper-Jabs Syndrome
Camptodactyly of finger, Frontal bossing, Ventricular septal defect, Conductive hearing impairmen... ORPHA:1488
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Broad nasal tip, Ventricular septal defect, Patent ductus... OMIM:601927
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Spina bifida, Ventricular septal defect, Anencephaly, Non-midline cleft lip, Aplasia/Hypoplasia o... ORPHA:2476
Congenital Alveolar Capillary Dysplasia
Pulmonary valve atresia, Atrial septal defect, Ventricular septal defect, Absent gallbladder, Pat... ORPHA:210122
Short-Rib Thoracic Dysplasia 12
Natal tooth, Patent ductus arteriosus, Intestinal malrotation, Anencephaly, Hamartoma of tongue, ... OMIM:269860
Holoprosencephaly 3
Cyclopia, Hypotelorism, Midface retrusion, Holoprosencephaly, Short columella, Abnormality of the... OMIM:142945
Laterality Defects, Autosomal Dominant
Asplenia, Situs inversus totalis, Heterotaxy OMIM:601086
Opitz Gbbb Syndrome
Cryptorchidism, Craniosynostosis, Large fontanelles, Natal tooth, Patent ductus arteriosus, Ompha... ORPHA:2745
Distal Trisomy 5Q
Cryptorchidism, Thin vermilion border, Craniosynostosis, Carious teeth, Narrow mouth, Dextrocardi... ORPHA:96097
Meckel Syndrome
Cryptorchidism, Aplasia/Hypoplasia of the tongue, Anencephaly, Pancreatic fibrosis, Anophthalmia,... ORPHA:564
Cebalid Syndrome
Hypertelorism, Short nose, Midface retrusion, Platystencephaly, Abnormality of the pinna, Plagioc... OMIM:618774
Isotretinoin-Like Syndrome
Anotia, Aplasia/Hypoplasia of the inner ear, Atresia of the external auditory canal, Patent ductu... ORPHA:2306
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Craniosynostosis, Narrow mouth, Sandal gap, Shoulder dislocation, Metatarsus adductus, Cardiomega... OMIM:245600
Mycophenolate Mofetil Embryopathy
Anotia, Chorioretinal coloboma, Hypertelorism, Hydrocephalus, Ventricular septal defect, Microgna... ORPHA:268249
Autism Spectrum Disorder Due To Auts2 Deficiency
Cryptorchidism, Short philtrum, Atrial septal defect, Hypertelorism, Narrow mouth, Arthrogryposis... ORPHA:352490
2Q37 Microdeletion Syndrome
Thin vermilion border, Underdeveloped nasal alae, Downturned corners of mouth, Congenital diaphra... ORPHA:1001
Diprosopus
Abnormality of the nose, Non-midline cleft lip, Anencephaly, Cleft palate, Abnormal cardiac septu... ORPHA:1681
Hadziselimovic Syndrome
Prominent nasal bridge, Ventricular hypertrophy, Atrial septal defect, Hypotelorism, Ventricular ... OMIM:612946
Hydrolethalus
Cryptorchidism, Anencephaly, Gingival cleft, Anophthalmia, Micrognathia, Hydrocephalus, Postaxial... ORPHA:2189
Dislocation Of The Hip-Dysmorphism Syndrome
Prominence of the premaxilla, Hypertelorism, Narrow mouth, Congenital hip dislocation, Abnormal t... ORPHA:2412
Oculoauriculofrontonasal Syndrome
Hypertelorism, Narrow mouth, Underdeveloped nasal alae, Ventricular septal defect, Conductive hea... ORPHA:398156
Alobar Holoprosencephaly
Morphological abnormality of the gastrointestinal tract, Central hypothyroidism, Solitary median ... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Morphological abnormality of the gastrointestinal tract, Central hypothyroidism, Solitary median ... ORPHA:93926
Lobar Holoprosencephaly
Morphological abnormality of the gastrointestinal tract, Central hypothyroidism, Solitary median ... ORPHA:93924
Semilobar Holoprosencephaly
Morphological abnormality of the gastrointestinal tract, Central hypothyroidism, Solitary median ... ORPHA:220386
Fetal Alcohol Syndrome
Atrial septal defect, Biparietal narrowing, Short nose, Low-set, posteriorly rotated ears, Smooth... ORPHA:1915
Feingold Syndrome 1
Patent ductus arteriosus, Small anterior fontanelle, High palate, Micrognathia, Annular pancreas,... OMIM:164280
Pericardial And Diaphragmatic Defect
Pulmonary sequestration, Partial diaphragmatic absence of pericardium, Meckel diverticulum, Atria... ORPHA:2847
Floating-Harbor Syndrome
Cryptorchidism, Carious teeth, Oligodontia, Short clavicles, Short thumb, Broad fingertip, Precoc... ORPHA:2044
Triploidy
Cryptorchidism, Narrow mouth, Intestinal malrotation, Iris coloboma, Omphalocele, Micrognathia, H... ORPHA:3376
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Abnormal ilium morphology, Hydrocele testis, Thin vermilion border, Open mouth, Overfolded helix,... OMIM:614080
Neuronal Intestinal Pseudoobstruction
Natal tooth, Patent ductus arteriosus, Congenital diaphragmatic hernia, Abnormal cardiac septum m... ORPHA:99811
Intellectual Disability-Strabismus Syndrome
Cryptorchidism, Decreased serum insulin-like growth factor 1, Patent ductus arteriosus, Congenita... ORPHA:363528
Burn-Mckeown Syndrome
Thin vermilion border, Atrial septal defect, Short philtrum, Narrow mouth, Underdeveloped nasal a... OMIM:608572
Thakker-Donnai Syndrome
Communicating hydrocephalus, Bulbous nose, Narrow mouth, Ventricular septal defect, Downturned co... ORPHA:1780
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Epiphyseal stippling, Adrenal hypoplasia, Single ventricle, Congenital hip dislocation, Hypoplast... OMIM:308050
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Long philtrum, Hypertelorism, Short nose, Narrow mouth, Dental crowding, Midface retrusion, Front... OMIM:615539
Chromosome 15Q25 Deletion Syndrome
Cryptorchidism, Hypertelorism, Pectus excavatum, Tented upper lip vermilion, Dextrocardia, Inguin... OMIM:614294
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Dextrocardia, Spina bifida occulta, High palate, Micrognathia, Ectrodactyl... ORPHA:2437
Greig Cephalopolysyndactyly Syndrome
Postaxial hand polydactyly, Broad thumb, Preaxial hand polydactyly, Hydrocephalus, Toe syndactyly... ORPHA:380
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Abnormal heart morphology, Cerebral atrophy, Patent ductus arteriosus, Abnormality of the pinna, ... OMIM:618164
22Q11.2 Deletion Syndrome
Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Small earlobe, Bulbous nose, Na... ORPHA:567
Yunis-Varon Syndrome
Cryptorchidism, Thin vermilion border, Small earlobe, Large fontanelles, Tapered toe, Aplasia/Hyp... OMIM:216340
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Cryptorchidism, Craniosynostosis, Arthrogryposis multiplex congenita, Global brain atrophy, Doubl... OMIM:301056
Vacterl/Vater Association
Cryptorchidism, Large fontanelles, Omphalocele, Anencephaly, Aplasia/Hypoplasia of the lungs, Con... ORPHA:887
Catel-Manzke Syndrome
Camptodactyly of finger, Atrial septal defect, Hypertelorism, Ventricular septal defect, Abnormal... ORPHA:1388
Proximal 16P11.2 Microdeletion Syndrome
Atrial septal defect, Hand polydactyly, Hypertelorism, Craniosynostosis, Abnormal heart morpholog... ORPHA:261197
Autosomal Recessive Spondylocostal Dysostosis
Long philtrum, Anomalous pulmonary venous return, Camptodactyly of finger, Cryptorchidism, Macroc... ORPHA:2311
Spondylocostal Dysostosis 4, Autosomal Recessive
Situs inversus totalis, Rib fusion, Unilateral vertebral artery hypoplasia, Dextrocardia, Spina b... OMIM:613686
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Situs inversus totalis, Porencephalic cyst, Cerebellar hypoplasia, Tetralog... OMIM:601322
Maternal Phenylketonuria
Long philtrum, Deviated nasal septum, Hypoplastic helices, Abnormal heart morphology, Ventricular... ORPHA:2209
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, Dental crowding, Patent ductus arteriosus, Sensorineural hearing impairment, Patent... OMIM:612582
Arterial Tortuosity Syndrome
Hiatus hernia, Long philtrum, Ventricular hypertrophy, Aortic tortuosity, Hypertelorism, Convex n... OMIM:208050
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Hypertelorism, Narrow mouth, Camptodactyly, Irregular dentition, Hearing impairment, Intestinal l... OMIM:616006
Genitourinary And/Or Brain Malformation Syndrome
Cryptorchidism, Aplasia of the nasal bone, Acrania, Omphalocele, Micrognathia, Long philtrum, Str... OMIM:618820
Mosaic Variegated Aneuploidy Syndrome 2
Craniosynostosis, Bulbous nose, Narrow mouth, Micrognathia, Depressed nasal bridge, Duodenal atre... OMIM:614114
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Aplasia/Hypoplasia of the cerebellum, Camptodactyly of finger, Aplasia/Hypoplasia of the corpus c... ORPHA:2570
Lissencephaly Syndrome, Norman-Roberts Type
Rocker bottom foot, Atrial septal defect, Agenesis of corpus callosum, Hypertelorism, Microretrog... ORPHA:89844
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Postaxial hand polydactyly, Hypertelorism, Narrow mouth, Ventricular septal defect, Megalencephal... ORPHA:83473
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Genu valgum, Atrial septal defect, Postaxial hand polydactyly, Cryptor... OMIM:225500
Ciliary Dyskinesia, Primary, 39
Dextrocardia, Double outlet right ventricle, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Lethal Congenital Contracture Syndrome 10
Overlapping fingers, Long philtrum, Narrow palate, Broad ribs, Ventricular septal defect, Microgn... OMIM:617022
20P12.3 Microdeletion Syndrome
Long philtrum, Thickened helices, Atrial septal defect, Broad thumb, Narrow mouth, Hypertelorism,... ORPHA:261295
Seckel Syndrome 9
Convex nasal ridge, Atrial septal defect, Ventricular septal defect, Dolichocephaly, Pulmonary ar... OMIM:616777
Diets-Jongmans Syndrome
Hip dysplasia, Cryptorchidism, Ventricular septal defect, Interrupted inferior vena cava with azy... OMIM:618846
Sonoda Syndrome
Depressed nasal bridge, Narrow mouth, Ventricular septal defect OMIM:270460
Frontoocular Syndrome
Atrial septal defect, Narrow mouth, Micrognathia, Pectus excavatum, Proptosis, Posteriorly rotate... OMIM:605321
Frank-Ter Haar Syndrome
Wormian bones, Short phalanx of finger, Camptodactyly, Metatarsus adductus, Double outlet right v... OMIM:249420
17Q23.1Q23.2 Microdeletion Syndrome
Bulbous nose, Narrow mouth, Patent ductus arteriosus, Sandal gap, Long toe, Shallow acetabular fo... ORPHA:261279
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Cryptorchidism, Broad thumb, Patent ductus arteriosus, Neutropenia, Cor triatriatum, Leukopenia, ... OMIM:612541
Arthrogryposis, Distal, Type 2E
Absent antihelix, Arthrogryposis multiplex congenita, Narrow mouth, Joint contractures involving ... OMIM:121070
Meacham Syndrome
Pulmonary sequestration, Abnormal lung lobation, Anomalous pulmonary venous return, Atrial septal... ORPHA:3097
14Q24.1Q24.3 Microdeletion Syndrome
Long philtrum, Dislocated radial head, Atrial septal defect, Truncus arteriosus, Short nose, Cryp... ORPHA:401935
Yunis-Varon Syndrome
Cryptorchidism, Thin vermilion border, Slender long bones with narrow diaphyses, Metatarsus adduc... ORPHA:3472
Charge Syndrome
Cryptorchidism, Coloboma, Patent ductus arteriosus, Choanal atresia, Iris coloboma, Omphalocele, ... OMIM:214800
Focal Dermal Hypoplasia
Open bite, Abnormal dental enamel morphology, Split hand, Patent ductus arteriosus, Iris coloboma... ORPHA:2092
7Q11.23 Microduplication Syndrome
Cryptorchidism, Thin vermilion border, Craniosynostosis, Overfolded helix, Patent ductus arterios... ORPHA:96121
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cryptorchidism, Facial hypotonia, Narrow mouth, Coloboma, Patent ductus arteriosus, Exaggerated c... OMIM:618659
Fryns Syndrome
Cryptorchidism, Hypoplasia of the optic tract, Camptodactyly, Hypoplasia of olfactory tract, Inte... OMIM:229850
Whistling Face Syndrome, Recessive Form
Long philtrum, Hypertelorism, Narrow mouth, Underdeveloped nasal alae, Midface retrusion, Camptod... OMIM:277720
Truncus Arteriosus
Abnormal coronary artery morphology, Patent ductus arteriosus, Cardiomegaly, Pulmonary artery ste... ORPHA:3384
Meckel Syndrome, Type 4
Atrial septal defect, Postaxial hand polydactyly, Ventricular septal defect, Hypoplasia of the co... OMIM:611134
Craniotelencephalic Dysplasia
Craniosynostosis, Hydrocephalus, Frontal bossing, Arrhinencephaly, Low-set, posteriorly rotated e... ORPHA:1528
Aymé-Gripp Syndrome
Cryptorchidism, Oligodontia, Craniosynostosis, Pericarditis, Narrow mouth, Large fontanelles, Per... ORPHA:1272
Microphthalmia, Syndromic 3
Hypothalamic hamartoma, Cryptorchidism, Coloboma, Frontal bossing, Ventricular septal defect, Hyp... OMIM:206900
Insulin-Like Growth Factor I, Resistance To
Narrow mouth, Sandal gap, Patent foramen ovale, High palate, Micrognathia, Long philtrum, Hypopla... OMIM:270450
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Microcephaly, Right aortic arch with mirror image branching OMIM:107500
Microcephaly-Microcornea Syndrome, Seemanova Type
Narrow mouth, High palate, Retrognathia, Microphthalmia, Brachycephaly, Microcephaly, Hypogonadism ORPHA:2528
Genitopalatocardiac Syndrome
Abnormality of mesentery morphology, Cryptorchidism, Postaxial hand polydactyly, Hypertelorism, D... ORPHA:2075
Hypertelorism, Microtia, Facial Clefting Syndrome
Small thenar eminence, Hypertelorism, Broad nasal tip, Narrow mouth, Abnormal heart morphology, C... OMIM:239800
Ciliary Dyskinesia, Primary, 1
Situs inversus totalis, Bronchiectasis, Conductive hearing impairment, Nasal polyposis, Anosmia, ... OMIM:244400
Distal Monosomy 15Q
Cryptorchidism, Decreased serum insulin-like growth factor 1, Patent ductus arteriosus, Short dis... ORPHA:1596
Wolf-Hirschhorn Syndrome
Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Abnormality of the philtrum, Downturned cor... ORPHA:280
Congenitally Corrected Transposition Of The Great Arteries
Single ventricle, Patent ductus arteriosus, Atrial situs ambiguous, Dextrocardia, Gerbode ventric... ORPHA:216694
8p23.1 deletion syndrome
Cryptorchidism, Atrial septal defect, Abnormal heart morphology, Congenital diaphragmatic hernia,... DECIPHER:39
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Cryptorchidism, Oligodontia, Narrow palate, Narrow mouth, Pericardial effusion, Camptodactyly, Se... OMIM:235510
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Hypertelorism, Broad nasal tip, Narrow mouth, Overlapping toe, Micrognathia, Abnormal cerebral wh... OMIM:617755
Warburg Micro Syndrome 1
Cryptorchidism, Thin vermilion border, Narrow mouth, Overlapping toe, Macrotia, Micrognathia, Hyp... OMIM:600118
Linear Skin Defects With Multiple Congenital Anomalies 2
Long philtrum, Ventricular hypertrophy, Atrial septal defect, Short nose, Hypertelorism, Hypoplas... OMIM:300887
Microphthalmia, Syndromic 2
Cryptorchidism, Oligodontia, Asymmetry of the ears, Patent ductus arteriosus, Iris coloboma, Sand... OMIM:300166
Congenital Total Pulmonary Venous Return Anomaly
Cardiac total anomalous pulmonary venous connection, Single ventricle, Patent ductus arteriosus, ... ORPHA:99125
Diabetic Embryopathy
Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Aplasia/Hypoplasia of the corpus callosum, ... ORPHA:1926
Holoprosencephaly 1
Median cleft lip and palate, Adrenal hypoplasia, Single ventricle, Ethmocephaly, Cyclopia, Midfac... OMIM:236100
20Q13.33 Microdeletion Syndrome
Abnormality of limb bone morphology, Thin vermilion border, Atrial septal defect, Hypertelorism, ... ORPHA:261311
Heterotaxy, Visceral, 5, Autosomal
Atrial septal defect, Ventricular septal defect, Abdominal situs inversus, Dextrocardia, Transpos... OMIM:270100
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Long philtrum, Short philtrum, Hypertelorism, Narrow mouth, Hypoplasia of the corpus callosum, De... OMIM:618443
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short philtrum, Atrial septal defect, Hypertelorism, Narrow mouth, Ventricular septal defect, Hyp... OMIM:617360
Axial Mesodermal Dysplasia Spectrum
Abnormality of the ribs, Morphological abnormality of the gastrointestinal tract, Hypertelorism, ... ORPHA:1834
Hamel Cerebro-Palato-Cardiac Syndrome
Atrial septal defect, Bulbous nose, Narrow mouth, Micrognathia, Wide nasal bridge, Cupped ear, Cl... ORPHA:93946
Chromosome 9P Deletion Syndrome
Narrow mouth, Choanal atresia, Patent ductus arteriosus, Omphalocele, Trigonocephaly, High palate... OMIM:158170
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Midgut malrotation, Pulmonary... ORPHA:2326
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Rocker bottom foot, Thin vermilion border, Cryptorchidism, Arthrogryposis multiplex congenita, Bu... OMIM:618766
3C Syndrome
Aplasia/Hypoplasia of the cerebellum, Intestinal malrotation, Iris coloboma, Oral cleft, High, na... ORPHA:7
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Atrial septal defect, Retinal coloboma, Cerebellar vermis hypoplasia, Preaxial polydactyly, Posta... OMIM:616546
Fetal Trimethadione Syndrome
Atrial septal defect, Short nose, Ventricular septal defect, Overfolded helix, Midface retrusion,... ORPHA:1913
Thoracoabdominal Syndrome
Patent ductus arteriosus, Omphalocele, Anencephaly, Ectopia cordis, Pulmonary hypoplasia, Congeni... OMIM:313850
Trisomy 17P
Narrow mouth, Patent ductus arteriosus, Oral cleft, Skeletal muscle atrophy, High palate, Microgn... ORPHA:261290
Carpenter Syndrome 2
Cryptorchidism, Craniosynostosis, Narrow palate, Broad thumb, Oxycephaly, Camptodactyly, Patent d... OMIM:614976
White-Sutton Syndrome
Facial hypotonia, Narrow mouth, Open mouth, Downturned corners of mouth, Iris coloboma, Cerebral ... ORPHA:468678
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Hip dysplasia, Cryptorchidism, Narrow palate, Abnormal palate morphology, Tooth agenesis, Posteri... ORPHA:2063
8Q12 Microduplication Syndrome
Long philtrum, Atrial septal defect, Narrow mouth, Ventricular septal defect, Everted lower lip v... ORPHA:228399
Renpenning Syndrome 1
Bulbous nose, Narrow mouth, Coloboma, Camptodactyly, Mandibular prognathia, High palate, Decrease... OMIM:309500
Xp22.13P22.2 Duplication Syndrome
Hypertelorism, Recurrent upper respiratory tract infections, High palate, Pectus excavatum, 2-3 t... ORPHA:284180
Camptodactyly Syndrome, Guadalajara Type 1
Open bite, Narrow mouth, Downturned corners of mouth, Mandibular prognathia, Short distal phalanx... ORPHA:1327
Heart Defects, Congenital, And Other Congenital Anomalies
Patent ductus arteriosus, Intestinal malrotation, Pancreatic hypoplasia, Microcolon, Pulmonary ar... OMIM:600001
Alazami-Yuan Syndrome
Long philtrum, Cryptorchidism, Narrow mouth, Underdeveloped nasal alae, Dental crowding, High pal... OMIM:617126
Phaver Syndrome
Triphalangeal thumb, Abnormality of the ribs, Camptodactyly of finger, Broad thumb, Radioulnar sy... ORPHA:2876
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Cryptorchidism, Hydrocele testis, Open mouth, Dental crowding, Camptodactyly, Pyloric stenosis, I... ORPHA:261537
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Cryptorchidism, Hydrocephalus, Ventricular septal defect, Holoprosencephaly, Patent ductus arteri... ORPHA:77298
Holoprosencephaly-Caudal Dysgenesis Syndrome
Radial club hand, Hypertelorism, Cyclopia, Holoprosencephaly, Abnormality of the radius, Proptosi... ORPHA:2165
Distal Tetrasomy 15Q
Hydrocele testis, Craniosynostosis, Camptodactyly, Patent ductus arteriosus, Sensorineural hearin... ORPHA:314588
De Barsy Syndrome
Cryptorchidism, Delayed closure of the anterior fontanelle, Wormian bones, Prominent nasolabial f... ORPHA:2962
Primary Pulmonary Hypoplasia
Abnormal hemidiaphragm morphology, Secundum atrial septal defect, Abnormal pulmonary artery morph... ORPHA:2257
Acalvaria
Holoprosencephaly, Spina bifida, Hydrocephalus ORPHA:945
Fallot Complex With Severe Mental And Growth Retardation
Pulmonic stenosis, Tetralogy of Fallot, Double outlet right ventricle, Ventricular septal defect OMIM:601127
Rubinstein-Taybi Syndrome 1
Enamel hypoplasia, Cryptorchidism, Narrow palate, Narrow mouth, Broad thumb, Dental crowding, Fla... OMIM:180849
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Hyperplasia of the maxilla, Metatarsus adductus, Micrognathia, Depressed nasal bridge, Hip dyspla... ORPHA:513456
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypertelorism, Abnormal mitral valve morphology, Mandibular progna... ORPHA:1919
Heterotaxy, Visceral, 8, Autosomal
Unbalanced atrioventricular canal defect, Ventricular septal defect, Abdominal situs inversus, At... OMIM:617205
Pallister-Hall Syndrome
Cryptorchidism, Broad thumb, Atresia of the external auditory canal, Natal tooth, Patent ductus a... ORPHA:672
Acrocallosal Syndrome
Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Postaxial hand polydactyly, Hypertelorism, ... ORPHA:36
Monosomy 18Q
Left aortic arch with right descending aorta and right ductus arteriosus, Bulbous nose, Open mout... ORPHA:1600
Agnathia-Otocephaly Complex
Mandibular aplasia, Situs inversus totalis, Narrow mouth, Aglossia, Laryngeal hypoplasia, Conduct... OMIM:202650
Simpson-Golabi-Behmel Syndrome, Type 1
Cryptorchidism, Broad thumb, Two carpal ossification centers present at birth, Flared iliac wing,... OMIM:312870
3P25.3 Microdeletion Syndrome
Broad thumb, Cerebral white matter atrophy, Downturned corners of mouth, Mandibular prognathia, P... ORPHA:435638
17P13.3 Microduplication Syndrome
Hypertelorism, Short nose, Narrow mouth, Congenital hip dislocation, Frontal bossing, Hypoplasia ... ORPHA:217385
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Long philtrum, Overriding aorta, Atrial septal defect, Abnormal heart morphology, Ventricular sep... ORPHA:477817
Immunodeficiency, Developmental Delay, And Hypohomocysteinemia
Atrial septal defect, Recurrent respiratory infections, Leukoencephalopathy, Abnormal heart morph... OMIM:617744
Smith-Lemli-Opitz Syndrome
Aplasia/Hypoplasia of the cerebellum, Abnormal dental enamel morphology, Cryptorchidism, Split ha... ORPHA:818
Fibrochondrogenesis 1
Narrow mouth, Camptodactyly, Omphalocele, Hypoplastic ischia, Narrow greater sciatic notch, Paten... OMIM:228520
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Bronchiectasis, Absent outer dynein arms, Recurrent sinusitis, Atelectasi... OMIM:615067
Renal-Hepatic-Pancreatic Dysplasia 1
Cirrhosis, Atrial septal defect, Hepatic cysts, Pancreatic cysts, Polysplenia, Patent ductus arte... OMIM:208540
Congenital Heart Defects, Multiple Types, 7
Aortopulmonary collateral arteries, Double aortic arch, Pulmonic stenosis, Absence of the pulmona... OMIM:618780
Fg Syndrome Type 1
Cryptorchidism, Craniosynostosis, Open mouth, Dental crowding, Choanal atresia, Sensorineural hea... ORPHA:93932
Ciliary Dyskinesia, Primary, 25
Situs inversus totalis, Bronchiectasis, Recurrent sinusitis, Dextrocardia, Sinusitis, Recurrent r... OMIM:615482
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Overlapping fingers, Atrial septal defect, Hypertelorism, Ventricular septal defect, Macrotia, Hi... OMIM:618142
Limb Body Wall Complex
Choanal atresia, Iris coloboma, Anencephaly, Spina bifida occulta, Congenital diaphragmatic herni... ORPHA:2369
Poland Syndrome
Absence of pectoralis minor muscle, Hypoplasia of serratus anterior muscle, Hypoplasia of latissi... OMIM:173800
Holoprosencephaly With Fetal Akinesia/Hypokinesia Sequence
Intrauterine growth retardation, Holoprosencephaly, Multiple joint contractures OMIM:306990
Myhre Syndrome
Cryptorchidism, Narrow mouth, Pericardial effusion, Camptodactyly, Patent ductus arteriosus, Mand... OMIM:139210
Frontonasal Dysplasia 1
Frontal cutaneous lipoma, Coloboma, Hypoplastic frontal sinuses, Camptodactyly, Lipoma of corpus ... OMIM:136760
Charge Syndrome
Aplasia/Hypoplasia of the cerebellum, Cryptorchidism, Abnormality of tibia morphology, Narrow mou... ORPHA:138
Diamond-Blackfan Anemia 10
Ventricular septal defect, Conductive hearing impairment, Atresia of the external auditory canal,... OMIM:613309
Congenital Pseudoarthrosis Of The Clavicle
Dextrocardia, Cervical ribs, Situs inversus totalis, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Microphthalmia With Limb Anomalies
Cryptorchidism, Thin vermilion border, Hypoplasia of the premaxilla, Tarsal synostosis, Broad thu... ORPHA:1106
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Truncus arteriosus, Bulbous nose, Broad thumb, Frontal bossing, Coarctation of aorta, Deeply set ... OMIM:612474
Lambotte Syndrome
Semilobar holoprosencephaly, Convex nasal ridge, Hypertelorism, Narrow mouth, Ventricular septal ... OMIM:245552
Auriculocondylar Syndrome 2
Narrow mouth, Dental crowding, Micrognathia, Overfolding of the superior helices, Mandibular cond... OMIM:614669
Desmosterolosis
Narrow mouth, Patent ductus arteriosus, Intestinal malrotation, Metatarsus adductus, Micrognathia... ORPHA:35107
Mowat-Wilson Syndrome
Cryptorchidism, Hydrocele testis, Open mouth, Dental crowding, Anterior plagiocephaly, Camptodact... ORPHA:2152
White Forelock With Malformations
Atrial septal defect, Hypertelorism, Prominent veins on trunk, Aplasia/Hypoplasia of the distal p... OMIM:277740
Cleft Palate, Cardiac Defects, And Mental Retardation
Atrial septal defect, Broad thumb, Ventricular septal defect, Deeply set eye, Gastroesophageal re... OMIM:600987
Mental Retardation, Autosomal Dominant 43
Narrow mouth, Hypoplasia of the corpus callosum, Cerebral atrophy, Gastroesophageal reflux, Wide ... OMIM:616977
Microphthalmia With Limb Anomalies
Sandal gap, Anophthalmia, High palate, Depressed nasal bridge, Postaxial hand polydactyly, Foot o... OMIM:206920
Hydrolethalus Syndrome 1
Omphalocele, Anencephaly, Micrognathia, Median cleft lip, Postaxial hand polydactyly, Preaxial ha... OMIM:236680
Distal 7Q11.23 Microduplication Syndrome
Cryptorchidism, Hydrocephalus, Patent ductus arteriosus, Congenital diaphragmatic hernia, Aortic ... ORPHA:261102
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Cryptorchidism, Hydrocele testis, Open mouth, Dental crowding, Camptodactyly, Pyloric stenosis, P... ORPHA:261552
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Cryptorchidism, Absent glenoid fossa, Epiphyseal stippling, Wormian bones, Narrow mouth, Camptoda... ORPHA:96334
Coffin-Siris Syndrome 1
Cryptorchidism, Patent ductus arteriosus, Choanal atresia, Intestinal malrotation, Sandal gap, Ap... OMIM:135900
Cornelia De Lange Syndrome 1
Cryptorchidism, Downturned corners of mouth, Choanal atresia, Pneumonia, Sensorineural hearing im... OMIM:122470
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Camptodactyly of finger, Short nose, Narrow mouth, Hypoplasia of the corpus callosum, Abnormal pa... ORPHA:1495
Tetralogy Of Fallot
Cryptorchidism, Thin vermilion border, Dolichocephaly, Proptosis, Tetralogy of Fallot, Clinodacty... ORPHA:3303
Schisis Association
Spina bifida, Omphalocele, Anencephaly, Unilateral cleft lip, Anal atresia, Congenital diaphragma... ORPHA:63862
Marbach-Rustad Progeroid Syndrome
Wormian bones, Delayed eruption of primary teeth, Convex nasal ridge, Narrow mouth, Femur fractur... OMIM:619322
Joubert Syndrome With Ocular Defect
Hand polydactyly, Biparietal narrowing, Hydrocephalus, Abnormality of the hypothalamus-pituitary ... ORPHA:220493
Pagod Syndrome
Abnormality of the ribs, Spina bifida, Situs inversus totalis, Abnormal testis morphology, Abnorm... ORPHA:991
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Cryptorchidism, Broad thumb, Bulbous nose, Downturned corners of mouth, Coloboma, Patent ductus a... ORPHA:329224
Ring Chromosome 21 Syndrome
Holoprosencephaly, Short stature, Abnormal heart morphology ORPHA:1445
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Cryptorchidism, Carious teeth, Narrow palate, Abnormal proximal phalanx morphology of the hand, B... ORPHA:353281
Chromosome 1P35 Deletion Syndrome
Cryptorchidism, Hypertelorism, Narrow mouth, High palate, Wide nasal bridge, Thin upper lip vermi... OMIM:617930
1Q21.1 Microduplication Syndrome
Hip dysplasia, Cryptorchidism, Arthrogryposis multiplex congenita, Hypertelorism, Frontal bossing... ORPHA:250994
Hypermethioninemia Due To Adenosine Kinase Deficiency
Atrial septal defect, Hypertelorism, Frontal bossing, Hepatic steatosis, Cerebral atrophy, Choles... OMIM:614300
Thanatophoric Dysplasia Type 2
Polyhydramnios, Atrial septal defect, Holoprosencephaly, Patent ductus arteriosus, Increased nuch... ORPHA:93274
49,Xxxxy Syndrome
Open bite, Cryptorchidism, Carious teeth, Abnormal dental enamel morphology, Mandibular prognathi... ORPHA:96264
Distal 7Q11.23 Microdeletion Syndrome
Microcephaly, Porencephalic cyst, Patent ductus arteriosus, Atrial septal defect ORPHA:254351
Ciliary Dyskinesia, Primary, 38
Situs inversus totalis, Bronchiectasis, Conductive hearing impairment, Absent inner and outer dyn... OMIM:618063
Doors Syndrome
Narrow palate, Bulbous nose, Open mouth, Downturned corners of mouth, Anterior plagiocephaly, Atr... ORPHA:79500
Craniofacioskeletal Syndrome
Cryptorchidism, Large fontanelles, Hypoplastic frontal sinuses, Patent ductus arteriosus, Choanal... OMIM:300712
Chromosome 16P13.3 Duplication Syndrome
Atrial septal defect, Short nose, Bulbous nose, Ventricular septal defect, Short phalanx of finge... OMIM:613458
Ciliary Dyskinesia, Primary, 14
Recurrent pneumonia, Situs inversus totalis, Bronchiectasis, Absent inner dynein arms, Polyspleni... OMIM:613807
Bardet-Biedl Syndrome 17
Situs inversus totalis, Mesoaxial polydactyly, Polydactyly, Dextrocardia, Hypogonadism, Brachydac... OMIM:615994
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Oligodontia, Short nose, Underdeveloped nasal alae, Exocrine pancreati... ORPHA:2315
Neu-Laxova Syndrome 1
Cryptorchidism, Camptodactyly, Patent ductus arteriosus, Patent foramen ovale, Micrognathia, Rock... OMIM:256520
Kaufman Oculocerebrofacial Syndrome
Carious teeth, Narrow mouth, Congenital hip dislocation, Intestinal malrotation, Laryngeal strido... OMIM:244450
Peroxisome Biogenesis Disorder 12A (Zellweger)
Delayed closure of the anterior fontanelle, Atrial septal defect, Wide anterior fontanel, Cerebra... OMIM:614886
16P13.11 Microduplication Syndrome
Atrial septal defect, Hand polydactyly, Craniosynostosis, Ventricular septal defect, Pectus excav... ORPHA:261243
Marden-Walker Syndrome
Arthrogryposis multiplex congenita, Narrow mouth, Muscular dystrophy, Dextrocardia, Metatarsus ad... ORPHA:2461
Carpenter Syndrome 1
Cryptorchidism, Lambdoidal craniosynostosis, Flared iliac wing, Camptodactyly, Patent ductus arte... OMIM:201000
Baraitser-Winter Syndrome 1
Cryptorchidism, Overfolded helix, Patent ductus arteriosus, Iris coloboma, Oral cleft, Sensorineu... OMIM:243310
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Broad thumb, Open mouth, Dental crowding, High palate, Micrognathia, Ascending tubular aorta aneu... OMIM:309520
Lessel-Kreienkamp Syndrome
Atrial septal defect, Open mouth, Overfolded helix, Hypoplastic helices, Frontal bossing, Deeply ... OMIM:619149
Mental Retardation, Autosomal Dominant 26
Wide nasal base, Short philtrum, Arthrogryposis multiplex congenita, Hypertelorism, Narrow mouth,... OMIM:615834
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cryptorchidism, Carious teeth, Hydrocele testis, Narrow palate, Abnormal proximal phalanx morphol... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cryptorchidism, Carious teeth, Hydrocele testis, Narrow palate, Abnormal proximal phalanx morphol... ORPHA:353277
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Short philtrum, Occipital cortical atrophy, Bulbous nose, Broad nasal tip, Hypoplasia of the corp... ORPHA:411986
Turnpenny-Fry Syndrome
Facial hypotonia, Narrow mouth, Dental crowding, Mandibular prognathia, Patent ductus arteriosus,... OMIM:618371
Lujan-Fryns Syndrome
Camptodactyly of finger, Short philtrum, Atrial septal defect, Aplasia/Hypoplasia of the corpus c... ORPHA:776
Hemifacial Microsomia
Anotia, Hypoplasia of facial musculature, Atresia of the external auditory canal, Patent ductus a... OMIM:164210
Teebi-Shaltout Syndrome
Small earlobe, Oligodontia, Narrow mouth, Underdeveloped nasal alae, Camptodactyly, Metatarsus ad... OMIM:272950
Linear Skin Defects With Multiple Congenital Anomalies 1
Atrial septal defect, Colpocephaly, Hydrocephalus, Absent septum pellucidum, Ventricular septal d... OMIM:309801
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Narrow nasal ridge, Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Bulbous nose... OMIM:236500
Thoraco-Abdominal Enteric Duplication
Camptodactyly of finger, Abnormal tricuspid valve morphology, Intestinal malrotation, Meningocele... ORPHA:1759
Charlie M Syndrome
Short philtrum, Thin vermilion border, Hypertelorism, Narrow mouth, Finger syndactyly, Macrotia, ... ORPHA:1406
Distal 22Q11.2 Microdeletion Syndrome
Narrow mouth, Underdeveloped nasal alae, Choanal atresia, Sandal gap, Short distal phalanx of fin... ORPHA:261330
Nemaline Myopathy 2
EMG: myopathic abnormalities, Arthrogryposis multiplex congenita, Narrow mouth, Skeletal muscle a... OMIM:256030
2Q32Q33 Microdeletion Syndrome
Long philtrum, Thin vermilion border, Oligodontia, Broad thumb, Narrow mouth, Anteverted nares, D... ORPHA:251019
Oculocerebrocutaneous Syndrome
Cryptorchidism, Hand polydactyly, Aplasia/Hypoplasia of the corpus callosum, Congenital hip dislo... ORPHA:1647
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Narrow mouth, Cardiomegaly, Thin metatarsal cortices, High palate, Bro... ORPHA:2463
Craniotelencephalic Dysplasia
Craniosynostosis, Absent septum pellucidum, Arrhinencephaly, Cerebellar hypoplasia, Optic nerve h... OMIM:218670
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Patent ductus arteriosus, Intestinal malrotation, Congenital hypothyroidism, Pancreatic hypoplasi... ORPHA:2255
Arthrogryposis, Distal, Type 1C
Pursed lips, Rocker bottom foot, Thin vermilion border, Shoulder flexion contracture, Camptodacty... OMIM:619110
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Downturned corners of mouth, Dental crowding, Overfolded helix, Camptodactyly, Choanal atresia, S... OMIM:301044
Treacher-Collins Syndrome
Open bite, Cryptorchidism, Abnormal dental enamel morphology, Narrow mouth, Narrow internal audit... ORPHA:861
Ciliary Dyskinesia, Primary, 7
Dextrocardia, Situs inversus totalis, Bronchiectasis, Recurrent pneumonia OMIM:611884
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Toe syndactyly, Hypertelorism, Intestinal malrotation, Omphalocele, Testicular atrophy, Syndactyl... OMIM:601163
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Pseudocoarctation of the aorta, Short finger, Short 5th metacarpal, Patent ductus arte... OMIM:604381
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Pseudocoarctation of the aorta, Short 5th metacarpal, Patent ductus arteriosus, Bicuspid aortic v... ORPHA:228190
Congenital Rubella Syndrome
Atrial septal defect, Ventricular septal defect, Abnormality of the fontanelles or cranial suture... ORPHA:290
Mental Retardation, Buenos Aires Type
Carious teeth, Atrial septal defect, Hypertelorism, High palate, Pectus excavatum, Mandibular pro... OMIM:249630
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Atrial septal defect, Truncus arteriosus, Interrupted aortic arch, Ventricular... OMIM:617478
Otopalatodigital Syndrome Type 2
Oligodontia, Tarsal synostosis, Narrow mouth, Large fontanelles, Flared iliac wing, Hypoplastic f... ORPHA:90652
Gm1 Gangliosidosis
Narrow mouth, Mandibular prognathia, Patent ductus arteriosus, Abnormality of the metaphysis, Car... ORPHA:354
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Cryptorchidism, Macroglossia, Hypertelorism, Bulbous nose, Open mouth, Macrotia, Coloboma, Fronta... OMIM:616789
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Hypoplasia of the brainstem, Oligodontia, Narrow mouth, Hypoplasia of teeth, Downturned corners o... ORPHA:391408
Cerebrofacioarticular Syndrome
Narrow mouth, Large fontanelles, Camptodactyly, Micrognathia, Hypoplasia of the maxilla, Anal ste... ORPHA:314679
Faciocardiomelic Syndrome
Long philtrum, Hyperplasia of the maxilla, Hypoplastic pelvis, Polydactyly, Wide mouth, Slender l... OMIM:612731
Raine Syndrome
Enamel hypoplasia, Arthrogryposis multiplex congenita, Narrow mouth, Large fontanelles, Choanal s... OMIM:259775
Zechi-Ceide Syndrome
Thin vermilion border, Atrial septal defect, Oligodontia, Short philtrum, Downturned corners of m... ORPHA:217017
Trisomy 18P
Thin vermilion border, Narrow mouth, Underdeveloped nasal alae, Abnormality of finger, Hypotelori... ORPHA:1715
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Cryptorchidism, Broad thumb, Narrow mouth, Coloboma, Dental crowding, High palate, Decreased test... ORPHA:251028
Cerebrooculonasal Syndrome
Long philtrum, Postaxial hand polydactyly, Hypertelorism, Macrotia, Low-set, posteriorly rotated ... ORPHA:66625
Coffin-Siris Syndrome 6
Wormian bones, Short philtrum, Atrial septal defect, Frontal bossing, Conductive hearing impairme... OMIM:617808
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Hand polydactyly, Hydrocephalus, Short humerus, Anal atresia, Isomerism, Absent radius, Atriovent... OMIM:314390
Kabuki Syndrome
Cryptorchidism, Coloboma, Lip pit, Oral cleft, Cerebral cortical atrophy, Sensorineural hearing i... ORPHA:2322
X-Linked Intellectual Disability, Nascimento Type
Cryptorchidism, Thin vermilion border, Underdeveloped nasal alae, Downturned corners of mouth, Pa... ORPHA:163956
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cryptorchidism, Hypertelorism, Large fontanelles, Abnormal heart morphology, Camptodactyly, Intra... OMIM:214110
Monosomy 9P
Anotia, Cryptorchidism, Abnormality of the antihelix, Narrow mouth, Calvarial skull defect, Atres... ORPHA:261112
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Hypoplasia of the brainstem, Oligodontia, Cryptorchidism, Narrow mouth, Downturned corners of mou... OMIM:616817
Cutis Laxa-Marfanoid Syndrome
Abnormal heart valve morphology, Emphysema, Flexion contracture, Congenital diaphragmatic hernia,... ORPHA:171719
Mosaic Trisomy 14
Camptodactyly of finger, Cryptorchidism, Hypertelorism, Anteverted nares, Frontal bossing, Microg... ORPHA:1703
Ciliary Dyskinesia, Primary, 30
Situs inversus totalis, Bronchiectasis, Nasal congestion, Absent outer dynein arms, Nasal polypos... OMIM:616037
19P13.3 Microduplication Syndrome
Hip dysplasia, Short philtrum, Hip subluxation, Narrow mouth, Underdeveloped nasal alae, Ventricu... ORPHA:447980
Pelvis-Shoulder Dysplasia
Iris coloboma, Hypoplastic ischia, Acetabular dysplasia, Micrognathia, Fifth finger distal phalan... ORPHA:2839
Meckel Syndrome, Type 8
Postaxial hand polydactyly, Short nose, Polydactyly, Anophthalmia, Microphthalmia, Cleft upper li... OMIM:613885
Proximal 16P11.2 Microduplication Syndrome
Hypertelorism, Frontal bossing, Deeply set eye, Smooth philtrum, Thin upper lip vermilion, Microt... ORPHA:370079
Coffin-Siris Syndrome 10
Ventricular septal defect, Wide mouth, Persistence of primary teeth, Laryngomalacia, Posteriorly ... OMIM:618506
Ciliary Dyskinesia, Primary, 2
Situs inversus totalis, Bronchiectasis, Nasal polyposis, Absent inner and outer dynein arms, Dext... OMIM:606763
Coffin-Siris Syndrome 7
Short philtrum, Hypertelorism, Abnormal heart morphology, Macrotia, Wide mouth, Abnormal cardiac ... OMIM:618027
Simpson-Golabi-Behmel Syndrome
Cryptorchidism, Broad thumb, Congenital hip dislocation, Mandibular prognathia, Omphalocele, Abno... ORPHA:373
Myopathy, Centronuclear, 5
Narrow mouth, Facial palsy, Hip contracture, Dilated cardiomyopathy, High palate, Retrognathia, M... OMIM:615959
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Anomalous origin of right pulmonary artery from ascending aorta, Atrial septal defect, Anomalous ... ORPHA:99050
Meckel Syndrome, Type 10
Frontal bossing, Abnormality of the pinna, Postaxial polydactyly, Anencephaly, Cleft palate OMIM:614175
Fraser Syndrome 1
Cryptorchidism, Underdeveloped nasal alae, Dental crowding, Choanal stenosis, Calvarial skull def... OMIM:219000
Meier-Gorlin Syndrome 7
Cryptorchidism, Craniosynostosis, Narrow mouth, Choanal atresia, Bowing of the legs, High palate,... OMIM:617063
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Hydrocele testis, Narrow mouth, Overfolded helix, Patent ductus arteriosus, Peripheral pulmonary ... ORPHA:280633
Chondrodysplasia With Joint Dislocations, Gpapp Type
Genu valgum, Short toe, Narrow mouth, Short nose, Short foot, Wide nasal bridge, Short metacarpal... OMIM:614078
Cutis Laxa, Autosomal Recessive, Type Ib
Convex nasal ridge, Arterial tortuosity, Prominence of the premaxilla, Hypertelorism, Bulbous nos... OMIM:614437
Hypomandibular Faciocranial Dysostosis
Pursed lips, Atrial septal defect, Aglossia, Choanal stenosis, Patent ductus arteriosus, Coronal ... OMIM:241310
Congenital Heart Defects, Multiple Types, 5
Atrial septal defect, Ventricular septal defect, Aortic valve stenosis, Double outlet right ventr... OMIM:617912
Tetrasomy 9P
Cryptorchidism, Abnormal dental enamel morphology, Pericarditis, Bulbous nose, Dental crowding, D... ORPHA:3310
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Wormian bones, Narrow mouth, Midface retrusion, Brachyturricephaly, Hi... OMIM:613849
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Cryptorchidism, Underdeveloped nasal alae, Patent ductus arteriosus, Choanal atresia, Long toe, T... ORPHA:163979
Gastrointestinal Defects And Immunodeficiency Syndrome
Enamel hypoplasia, Hypertelorism, Interface hepatitis, Hematochezia, Ventricular septal defect, A... OMIM:243150
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Atrial septal defect, Sclerotic cranial sutures, Ventricular septal defect, Osteolysis involving ... ORPHA:371428
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Long philtrum, Hypertelorism, Narrow mouth, Downturned corners of mouth, Everted lower lip vermil... OMIM:618089
Fontaine Progeroid Syndrome
Cryptorchidism, Oligodontia, Craniosynostosis, Narrow mouth, Mandibular prognathia, Patent ductus... OMIM:612289
1Q21.1 Microdeletion Syndrome
Cryptorchidism, Broad thumb, Bulbous nose, Broad hallux phalanx, Patent ductus arteriosus, Iris c... ORPHA:250989
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Abnormal heart morphology, Emphysema, Congenital diaphragmatic hernia, Hip dislocation, Arachnoda... OMIM:614100
Lethal Faciocardiomelic Dysplasia
Radial club hand, Hypoplasia of the radius, Narrow mouth, Microretrognathia, Patent ductus arteri... ORPHA:1972
Fetal Encasement Syndrome
Anotia, Aplasia of the sweat glands, Mandibular aplasia, Upper limb undergrowth, Bilateral trilob... OMIM:613630
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Hypertelorism, Coloboma, Downturned corners of mouth, Ventricular septal de... OMIM:618652
Baller-Gerold Syndrome
Narrow mouth, Large fontanelles, Abnormality of the metacarpal bones, Abnormality of the carpal b... ORPHA:1225
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Patent foramen ovale, Ventricular septal defect, Persist... ORPHA:1209
Juvenile Polyposis Of Infancy
Clubbing of fingers, Broad thumb, Narrow mouth, Patent ductus arteriosus, Midclavicular hypoplasi... ORPHA:79076
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Atrial septal defect, Narrow palate, Hypertelorism, Depressed nasal tip, Overfolded helix, Patent... OMIM:618223
Conotruncal Heart Malformations
Truncus arteriosus, Hypertelorism, Complete atrioventricular canal defect, Postaxial polydactyly,... OMIM:217095
Hajdu-Cheney Syndrome
Open bite, Wormian bones, Thin vermilion border, Narrow mouth, Downturned corners of mouth, Paten... ORPHA:955
1Q41Q42 Microdeletion Syndrome
Cryptorchidism, Underdeveloped nasal alae, Frontal bossing, Hypergonadotropic hypogonadism, Holop... ORPHA:250999
Temtamy Syndrome
Chorioretinal coloboma, Convex nasal ridge, Hypertelorism, Aplasia/Hypoplasia of the corpus callo... ORPHA:1777
Hydrolethalus Syndrome 2
Hydrocephalus, Preaxial polydactyly, Postaxial polydactyly, Anencephaly, Cleft palate, Micrognath... OMIM:614120
Ellis Van Creveld Syndrome
Cryptorchidism, Thin vermilion border, Short distal phalanx of finger, Dextrocardia, Aplasia/Hypo... ORPHA:289
Diamond-Blackfan Anemia 6
Triphalangeal thumb, Ventricular hypertrophy, Atrial septal defect, Macrocytic anemia, Persistenc... OMIM:612561
Perlman Syndrome
Cryptorchidism, Interrupted aortic arch, Open mouth, Long upper lip, Hypoplasia of the abdominal ... OMIM:267000
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Long philtrum, Cryptorchidism, Hypertelorism, Short phalanx of finger, Overfolded helix, Pericard... OMIM:614684
Isolated Dandy-Walker Malformation
Aplasia/Hypoplasia of the corpus callosum, Frontal bossing, Platybasia, Prominent occiput, Cleft ... ORPHA:217
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Bronchiectasis, Dextrocardia, Chronic rhinitis, Chronic sinusitis, Abnorm... OMIM:614679
Kniest-Like Dysplasia, Lethal
Atrial septal defect, Hypertelorism, Narrow mouth, Metaphyseal irregularity, Broad ribs, Short di... OMIM:245190
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Hypoplasia of the brainstem, Cryptorchidism, Abnormal periventricular white matter morphology, Op... ORPHA:500159
Distal Trisomy 14Q
Aplasia/Hypoplasia of the corpus callosum, Abnormal aortic morphology, Patent ductus arteriosus, ... ORPHA:1705
Hypomandibular Faciocranial Dysostosis
Atrial septal defect, Craniosynostosis, Short nose, Narrow mouth, Laryngeal hypoplasia, Optic dis... ORPHA:1790
Walker-Warburg Syndrome
Cryptorchidism, Muscular dystrophy, Iris coloboma, Aplasia/Hypoplasia involving the skeletal musc... ORPHA:899
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Macrotia, Cerebellar hypoplasia, Proptosis, Hydranenceph... OMIM:605013
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Dental crowding, Sandal gap, Spina bifida occulta, High palate, Long philtrum, Pectus excavatum, ... OMIM:617877
Hyperphosphatasia With Mental Retardation Syndrome 6
Hip dysplasia, Shortening of all distal phalanges of the fingers, Thickened helices, Bulbous nose... OMIM:616809
Spinal Muscular Atrophy, Type I
Atrial septal defect, Spinal muscular atrophy, Ventricular septal defect, Proximal amyotrophy, Pr... OMIM:253300
Cerebrocostomandibular Syndrome
Spina bifida, Porencephalic cyst, Ventricular septal defect, Posterior rib gap, Conductive hearin... ORPHA:1393
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Anomalous origin of left coronary artery from the pulmonary artery, Patent ductus arteriosus, Sho... OMIM:618845
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Truncus arteriosus, Underdeveloped nasal alae, Ventricular septal defect, Abnormal aortic morphol... ORPHA:2516
Heterotaxy, Visceral, 6, Autosomal
Dextrocardia, Abdominal situs inversus, Transposition of the great arteries OMIM:614779
Schuurs-Hoeijmakers Syndrome
Cavum septum pellucidum, Cryptorchidism, Hypertelorism, Bulbous nose, Downturned corners of mouth... OMIM:615009
Hennekam Syndrome
Craniosynostosis, Narrow mouth, Pericardial effusion, Lymphangioma, Lymphadenopathy, Depressed na... ORPHA:2136
Heart Defects-Limb Shortening Syndrome
Abnormality of the ribs, Atrial septal defect, Abnormal mitral valve morphology, Abnormal tricusp... ORPHA:1354
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Arthrogryposis multiplex congenita, Hypertelorism, Narrow mouth, Spinal muscular atrophy, Microre... OMIM:616866
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Thin vermilion border, Narrow mouth, Downturned corners of mouth, Pierre-Robin sequence, Low-set,... ORPHA:1150
Cousin Syndrome
Camptodactyly, Hypoplastic ischia, Wrist flexion contracture, Alveolar ridge overgrowth, Microgna... OMIM:260660
Hallermann-Streiff Syndrome
Cryptorchidism, Thin vermilion border, Wormian bones, Narrow palate, Narrow mouth, Underdeveloped... OMIM:234100
Chromosome 18Q Deletion Syndrome
Cryptorchidism, Downturned corners of mouth, Choanal stenosis, Atresia of the external auditory c... OMIM:601808
Syndromic Diarrhea
Patent ductus arteriosus, Peripheral pulmonary artery stenosis, Cirrhosis, Villous atrophy, Hypop... ORPHA:84064
8P23.1 Duplication Syndrome
Long philtrum, Toe syndactyly, Hypertelorism, Ventricular septal defect, Deeply set eye, Thick ve... ORPHA:251076
Congenital Disorder Of Glycosylation, Type Iie
Narrow mouth, Jaundice, Skeletal muscle atrophy, Micrognathia, Wide nose, Hypoplasia of the corpu... OMIM:608779
Dyssegmental Dysplasia, Silverman-Handmaker Type
Clubbing of fingers, Cryptorchidism, Narrow mouth, Abnormal heart morphology, Broad long bones, H... ORPHA:1865
Microphthalmia, Isolated, With Coloboma 5
Chorioretinal coloboma, Holoprosencephaly, Iris coloboma, Bilateral microphthalmos, Oral cleft, M... OMIM:611638
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Long philtrum, Short philtrum, Hypertelorism, Narrow mouth, Downturned corners of mouth, Camptoda... OMIM:617333
Anophthalmia Plus Syndrome
Spina bifida, Hypertelorism, Low-set, posteriorly rotated ears, Choanal atresia, Bilateral cleft ... ORPHA:1104
Li-Ghorbani-Weisz-Hubshman Syndrome
Atrial septal defect, Downturned corners of mouth, Ventricular septal defect, Overlapping toe, Hy... OMIM:618974
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Carious teeth, Camptodactyly, Patent ductus arteriosus, Thin lower lip vermilion, Anal atresia, D... ORPHA:363444
Sifrim-Hitz-Weiss Syndrome
Cryptorchidism, Wormian bones, Atrial septal defect, Hypertelorism, Ventricular septal defect, Ab... OMIM:617159
Otopalatodigital Syndrome, Type I
Abnormality of the fifth metatarsal bone, Delayed closure of the anterior fontanelle, Narrow mout... OMIM:311300
Zttk Syndrome
Thin vermilion border, Craniosynostosis, Narrow mouth, Downturned corners of mouth, Patent ductus... OMIM:617140
Muscle-Eye-Brain Disease
Meningocele, Holoprosencephaly, Myopathy, Hydrocephalus ORPHA:588
Ctcf-Related Neurodevelopmental Disorder
Cryptorchidism, Thin vermilion border, Craniosynostosis, Narrow mouth, Broad hallux phalanx, Pate... ORPHA:363611
Skin Creases, Congenital Symmetric Circumferential, 2
Cryptorchidism, Carious teeth, Hypertelorism, Narrow mouth, Hypoplasia of the corpus callosum, Pe... OMIM:616734
Serkal Syndrome
Malrotation of small bowel, Ventricular septal defect, Oral cleft, Pulmonic stenosis, Pulmonary h... ORPHA:139466
Autosomal Recessive Centronuclear Myopathy
Scapular winging, Narrow mouth, Abnormal heart valve morphology, Centrally nucleated skeletal mus... ORPHA:169186
Shashi-Pena Syndrome
Atrial septal defect, Hypertelorism, Proptosis, Posteriorly rotated ears, Broad nasal tip, Macroc... OMIM:617190
Mental Retardation, Autosomal Dominant 57
Craniosynostosis, Narrow mouth, High palate, Posteriorly rotated ears, Broad nasal tip, Microceph... OMIM:618050
Acromicric Dysplasia
Long philtrum, Narrow mouth, Bulbous nose, Short phalanx of finger, Deep philtrum, Cone-shaped ep... OMIM:102370
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Cryptorchidism, Arthrogryposis multiplex congenita, Narrow mouth, Large fontanelles, Intestinal m... OMIM:601776
Congenital unilateral pulmonary hypoplasia
Abnormality of the pulmonary artery, Anomalous pulmonary venous return, Aplasia/Hypoplasia of the... ORPHA:2258
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
EMG: myopathic abnormalities, Carious teeth, Narrow palate, Narrow mouth, Overlapping toe, Deeply... ORPHA:457365
Myopathy, Congenital, With Tremor
EMG: myopathic abnormalities, Scapular winging, Prominent nasolabial fold, Narrow mouth, Flexion ... OMIM:618524
Ververi-Brady Syndrome
Hypertelorism, Bulbous nose, Metaphyseal irregularity, Macrotia, High palate, Everted lower lip v... OMIM:617982
Mandibulofacial Dysostosis-Microcephaly Syndrome
Abnormality of the antihelix, Atrial septal defect, Preaxial hand polydactyly, Short nose, Absent... ORPHA:79113
Arthrogryposis, Distal, Type 2A
Pursed lips, Hypoplasia of the brainstem, Cryptorchidism, Restricted neck movement due to contrac... OMIM:193700
1P36 Deletion Syndrome
Cryptorchidism, Narrow mouth, Patent ductus arteriosus, Cerebral cortical atrophy, Sensorineural ... ORPHA:1606
Suleiman-El-Hattab Syndrome
Cryptorchidism, Downturned corners of mouth, Overfolded helix, Polydactyly, Patent foramen ovale,... OMIM:618950
Opitz Gbbb Syndrome, Type Ii
Cryptorchidism, Craniosynostosis, Patent ductus arteriosus, Cerebral cortical atrophy, Aplasia/Hy... OMIM:145410
Pallister-Hall Syndrome
Cryptorchidism, Y-shaped metacarpals, Atresia of the external auditory canal, Natal tooth, Patent... OMIM:146510
Holoprosencephaly 5
Semilobar holoprosencephaly, Holoprosencephaly, Alobar holoprosencephaly, Lobar holoprosencephaly... OMIM:609637
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Omphalocele, Aplasia/Hypoplasia of the radius, Pulmonary hypoplasia, Aplasia/H... ORPHA:2141
Noonan Syndrome 11
Atrial septal defect, Hypertelorism, Bulbous nose, Pectus excavatum, Thick vermilion border, Post... OMIM:618499
Autosomal Recessive Robinow Syndrome
Open bite, Cryptorchidism, Broad thumb, Downturned corners of mouth, Split hand, Broad hallux pha... ORPHA:1507
Tarp Syndrome
Cryptorchidism, Small earlobe, Abnormality of the antihelix, Large fontanelles, Tongue nodules, P... ORPHA:2886
Oculocerebrocutaneous Syndrome
Cryptorchidism, Congenital hip dislocation, Hypoplasia of the corpus callosum, Cleft ala nasi, Cl... OMIM:164180
Developmental And Epileptic Encephalopathy 70
Cryptorchidism, Hypertelorism, Narrow mouth, Flexion contracture, Cerebral cortical atrophy, Micr... OMIM:618298
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Cryptorchidism, Narrow mouth, Open mouth, Dental crowding, Patent ductus arteriosus, Increased he... OMIM:300967
Adams-Oliver Syndrome 4
Atrial septal defect, Ventricular septal defect, Patent ductus arteriosus, Umbilical hernia, Shor... OMIM:615297
Multiple Pterygium-Malignant Hyperthermia Syndrome
Cryptorchidism, Arthrogryposis multiplex congenita, Narrow mouth, Downturned corners of mouth, Co... ORPHA:2215
19P13.13 Microdeletion Syndrome
Narrow mouth, Sandal gap, High palate, Depressed nasal bridge, Macroglossia, Corpus callosum atro... ORPHA:357001
Osteopathia Striata With Cranial Sclerosis
Delayed closure of the anterior fontanelle, Large fontanelles, Dental crowding, Overfolded helix,... OMIM:300373
10Q22.3Q23.3 Microduplication Syndrome
Abnormality of the philtrum, Microretrognathia, Deeply set eye, Abnormality of the dentition, Abn... ORPHA:276422
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Narrow mouth, Frontal bossing, Optic disc hypoplasia, Hypoplasia of ... ORPHA:420179
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Holoprosencephaly, Ventricular septal defect OMIM:601357
Al Kaissi Syndrome
Long philtrum, Decreased head circumference, Atrial septal defect, Hypertelorism, Hypoplasia of t... OMIM:617694
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Chorioretinal coloboma, Ventricular hypertrophy, Bulbous nose, Short nose, Abnormal heart morphol... ORPHA:284169
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Hypoplastic right heart, Ventricular septal defect, Split foot, Tetralogy of Fallot, Micrognathia OMIM:601348
Vissers-Bodmer Syndrome
Intrauterine growth retardation, Holoprosencephaly, Short stature OMIM:619033
Witteveen-Kolk Syndrome
Cryptorchidism, Gastrointestinal atresia, Thin vermilion border, Narrow mouth, Underdeveloped nas... OMIM:613406
Kagami-Ogata Syndrome
Patent ductus arteriosus, Omphalocele, Micrognathia, Hypoplasia of the maxilla, Depressed nasal b... OMIM:608149
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Short phalanx of finger, Barrel-shaped chest, Hypoplasia of the maxilla, Broad toe,... OMIM:271960
Arboleda-Tham Syndrome
Small earlobe, Craniosynostosis, Narrow mouth, Downturned corners of mouth, Mandibular prognathia... OMIM:616268
Inverted Duplicated Chromosome 15 Syndrome
Cryptorchidism, Short philtrum, Drooling, Ventricular septal defect, Low-set, posteriorly rotated... ORPHA:3306
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Hypertelorism, Decreased proportion of CD8-positive T cells, Wide anterior fontanel, Midface retr... OMIM:617241
Gracile Bone Dysplasia
Aniridia, Ankyloglossia, Thin ribs, Slender long bone, Asplenia, Flared metaphysis, Microphthalmi... OMIM:602361
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Narrow mouth, Calvarial skull defect, Bowing of the long bones, Wide nasal bridge... OMIM:224410
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Narrow mouth, Downturned corners of mouth, Overfolded helix, Large fontanelles, Increased head ci... OMIM:300868
Holoprosencephaly 9
Cryptorchidism, Hypoplasia of the premaxilla, Anterior pituitary hypoplasia, Solitary median maxi... OMIM:610829
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome
Broad thumb, Hypertelorism, Micrognathia, Abnormal aortic morphology, Patent ductus arteriosus, B... ORPHA:2001
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Aplasia/Hypoplasia of the cerebellum, Dental crowding, Camptodactyly, Patent ductus arteriosus, S... ORPHA:397709
Musculocontractural Ehlers-Danlos Syndrome
Abnormality of mesentery morphology, Cryptorchidism, Craniosynostosis, Malrotation of small bowel... ORPHA:2953
Contractures-Developmental Delay-Pierre Robin Syndrome
Underdeveloped nasal alae, Overfolded helix, Peripheral pulmonary artery stenosis, Cerebral white... ORPHA:436003
Xq28 (MECP2) duplication
Narrow mouth, Drooling, Macrotia, Hypoplasia of the corpus callosum, Dysphagia, Gastroesophageal ... DECIPHER:45
Acrofacial Dysostosis Syndrome Of Rodriguez
Oligodactyly, Short philtrum, Hypertelorism, Narrow mouth, Overlapping toe, Wide anterior fontane... OMIM:201170
Ritscher-Schinzel Syndrome 2
Cryptorchidism, Short philtrum, Atrial septal defect, Hypertelorism, Overlapping toe, Ventricular... OMIM:300963
Antley-Bixler Syndrome
Long philtrum, Femoral bowing, Camptodactyly of finger, Hypertelorism, Narrow mouth, Short nose, ... ORPHA:83
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Cryptorchidism, Craniosynostosis, Narrow palate, Narrow mouth, Choanal atresia, Hydrocephalus, Tu... ORPHA:1555
Distal Monosomy 10Q
Craniosynostosis, Short metatarsal, Patent ductus arteriosus, Sandal gap, Inferior vermis hypopla... ORPHA:96148
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Cryptorchidism, Bulbous nose, Open mouth, Downturned corners of mouth, Camptodactyly, Mandibular ... ORPHA:369891
Nablus Mask-Like Facial Syndrome
Cryptorchidism, Craniosynostosis, Narrow mouth, Camptodactyly, High palate, Hypoplasia of the max... OMIM:608156
Simpson-Golabi-Behmel Syndrome, Type 2
Congenital hip dislocation, Pneumonia, High palate, Scaphocephaly, Wide nose, Recurrent upper res... OMIM:300209
Alzahrani-Kuwahara Syndrome
Bulbous nose, Coronary sinus enlargement, Patent foramen ovale, Micrognathia, Cavum septum pelluc... OMIM:619268
Coffin-Siris Syndrome 5
Short philtrum, Atrial septal defect, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, W... OMIM:616938
Thanatophoric Dysplasia
Abnormal ilium morphology, Hip dysplasia, Abnormal sacroiliac joint morphology, Atrial septal def... ORPHA:2655
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Cryptorchidism, Atrial septal defect, Craniosynostosis, Downturned corners of mouth, Ventricular ... ORPHA:457193
15Q14 Microdeletion Syndrome
Long philtrum, Short philtrum, Atrial septal defect, Biparietal narrowing, Convex nasal ridge, Ve... ORPHA:261190
German Syndrome
Camptodactyly of finger, Cryptorchidism, Arthrogryposis multiplex congenita, Open mouth, Midface ... ORPHA:2077
Ramos-Arroyo Syndrome
Long philtrum, Carious teeth, Atrial septal defect, Hypertelorism, Narrow mouth, Choanal stenosis... ORPHA:1051
Atrioventricular Septal Defect With Blepharophimosis And Anal And Radial Defects
Aplasia of the 1st metacarpal, Atrial septal defect, Ventricular septal defect, Micrognathia, Gas... OMIM:600123
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Holoprosencephaly, Hydranencephaly, Hydrocephalus OMIM:617967
Contractural Arachnodactyly, Congenital