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Gene: Foxh1 MGI:1347465

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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:
forkhead box H1
Synonyms:
Fast2

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 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
Atrial septal defect, Inguinal hernia, Pulmonic stenosis, Single ventricle, Right atrial isomeris... OMIM:208530
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
High palate, Anomalous pulmonary venous return, Ventricular septal defect, Solitary median maxill... OMIM:619657
Aminopterin/Methotrexate Embryofetopathy
Hydrocephalus, Cleft palate, Anencephaly, Aplasia/Hypoplasia of the cerebellum, Ventricular septa... ORPHA:1908
Pseudotrisomy 13 Syndrome
Tricuspid atresia, Hydrocephalus, 11 pairs of ribs, Polymicrogyria, Ventricular septal defect, Me... OMIM:264480
Heterotaxy, Visceral, 1, X-Linked
Posteriorly placed anus, Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Biliary atre... OMIM:306955
Heterotaxy, Visceral, 7, Autosomal
Abnormal cardiac septum morphology, Atrial septal defect, Atrioventricular canal defect, Heterota... OMIM:616749
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Protruding ear, Tooth agenesis, Cerebral cortical atrophy, Congenital diaphragmatic hernia, Cleft... ORPHA:1166
Microphthalmia, Syndromic 9
Multilobulated spleen, Hypoplastic left atrium, Ventricular septal defect, Pulmonary hypoplasia, ... OMIM:601186
Mullegama-Klein-Martinez Syndrome
Abnormal cardiac septum morphology, Bulbous nose, Cleft palate, Depressed nasal bridge, Short phi... OMIM:301022
Holoprosencephaly
Abnormal antihelix morphology, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Depressed nasa... ORPHA:2162
Heterotaxy, Visceral, 6, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Unbalanced atrioventricular canal defect, ... OMIM:614779
Primary Ciliary Dyskinesia
Hydrocephalus, Anomalous pulmonary venous return, Clubbing, Chronic sinusitis, Polysplenia, Abnor... ORPHA:244
Heterotaxy, Visceral, 4, Autosomal
Atrioventricular canal defect, Dextrotransposition of the great arteries, Pulmonary artery atresi... OMIM:613751
Heterotaxy, Visceral, 12, Autosomal
Left Isomerism, Single coronary artery origin, Ventricular septal defect, Double outlet right ven... OMIM:619702
Trisomy 18
Cleft palate, Anencephaly, Ventricular septal defect, Short nose, Omphalocele, Microphthalmia, An... ORPHA:3380
Chromosome 13Q33-Q34 Deletion Syndrome
High palate, Distally placed thumb, Short philtrum, Cutaneous syndactyly, Anencephaly, Delayed er... OMIM:619148
Partial Atrioventricular Septal Defect
Double outlet right ventricle, Partial atrioventricular canal defect, Bacterial endocarditis, Ano... ORPHA:1330
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Narrow mouth, Aplasia/Hypoplasia involving the nose, Holoprosencephaly, Low-set, posteriorly rota... ORPHA:990
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Thick corpus callosum, Hydrocephalus, Macrocephaly, Atrial septal defect, Postaxial polydactyly, ... OMIM:603387
Hypoglossia With Situs Inversus
High palate, Narrow mouth, Hypodontia, Micrognathia, Situs inversus totalis, Microglossia, Low-se... OMIM:612776
Recombinant Chromosome 8 Syndrome
Pectus excavatum, Depressed nasal bridge, Abnormality of the dentition, Ventricular septal defect... OMIM:179613
Cardiofacioneurodevelopmental Syndrome
Protruding ear, Hypotelorism, Clinodactyly of the 5th finger, Cryptorchidism, Cleft palate, Atrio... OMIM:619123
14Q11.2 Microdeletion Syndrome
High palate, Narrow mouth, Deeply set eye, Toe clinodactyly, Everted lower lip vermilion, Depress... ORPHA:261120
Genitopalatocardiac Syndrome
Double outlet right ventricle, Cleft upper lip, Cleft palate, Micrognathia, Ventricular septal de... OMIM:231060
Mosaic Trisomy 9
High palate, Bulbous nose, Cleft palate, Abnormal liver lobulation, Finger clinodactyly, Ventricu... ORPHA:99776
Ciliary Dyskinesia, Primary, 40
Left Isomerism, Atrioventricular canal defect, Unbalanced atrioventricular canal defect, Situs in... OMIM:618300
Scimitar Syndrome
Tricuspid atresia, Pulmonary sequestration, Anomalous pulmonary venous return, Ventricular septal... ORPHA:185
Holoprosencephaly 14
Hydrocephalus, Macrocephaly, Cleft palate, Ventricular septal defect, Proboscis, Double outlet ri... OMIM:619895
Microform Holoprosencephaly
Cleft palate, Short philtrum, Short nose, Solitary median maxillary central incisor, Tented upper... ORPHA:280200
Cardioacrofacial Dysplasia 2
Accessory oral frenulum, Prominent nasal tip, Clinodactyly of the 5th finger, Hypodontia, Atriove... OMIM:619143
Heterotaxy, Visceral, 5, Autosomal
Atrioventricular canal defect, Ventricular septal defect, Double outlet right ventricle, Dextrotr... OMIM:270100
Emanuel Syndrome
High palate, Cleft palate, Congenital hip dislocation, Hypoplasia of the corpus callosum, Ventric... OMIM:609029
16P13.11 Microdeletion Syndrome
Wide mouth, Pectus excavatum, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Sh... ORPHA:261236
Heterotaxy, Visceral, 2, Autosomal
Double outlet right ventricle, Atrioventricular canal defect, Intestinal malrotation, Abdominal s... OMIM:605376
Short Stature-Wormian Bones-Dextrocardia Syndrome
High palate, Anal atresia, Tooth agenesis, Cryptorchidism, Micrognathia, Depressed nasal tip, Cam... ORPHA:2863
Congenital Heart Defects, Multiple Types, 6
Double outlet right ventricle, Secundum atrial septal defect, Pulmonic stenosis, Single ventricle... OMIM:613854
Meacham Syndrome
Congenital alveolar dysplasia, Ventricular septal defect, Pulmonary hypoplasia, Cardiac total ano... OMIM:608978
Lowry-Maclean Syndrome
Hydrocephalus, Cleft palate, Craniosynostosis, Atrioventricular canal defect, Pyloric stenosis, S... ORPHA:2409
Ritscher-Schinzel Syndrome 1
Hydrocephalus, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Double outlet rig... OMIM:220210
Cerebrooculonasal Syndrome
High palate, Hydrocephalus, Macrocephaly, Cleft palate, Craniosynostosis, Hypoplasia of the corpu... OMIM:605627
8P23.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Atrioventricular canal defect, Tapered finger, S... ORPHA:251071
Developmental Delay With Or Without Dysmorphic Facies And Autism
Abnormal cardiac septum morphology, Bulbous nose, Wide mouth, Cleft palate, Depressed nasal bridg... OMIM:618454
Double Outlet Right Ventricle
Double outlet right ventricle, Hypoparathyroidism, Narrow mouth, Abnormality of cartilage of exte... ORPHA:3426
Holoprosencephaly-Postaxial Polydactyly Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Thyroid hypoplasia, Umbilical he... ORPHA:2166
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Cleft palate, Atrioventricular canal defect, Tracheoesophageal fistula, Ventricular septal defect... OMIM:265380
Trisomy 1Q
Hydrocephalus, Macrocephaly, Cleft palate, Depressed nasal bridge, Ventricular septal defect, Omp... ORPHA:261344
Chromosome 1Q41-Q42 Deletion Syndrome
High palate, Pectus excavatum, Cleft palate, Broad nasal tip, Depressed nasal bridge, Short philt... OMIM:612530
Fryns Syndrome
High palate, Abnormal cardiac septum morphology, Wide mouth, Cleft palate, Pulmonary hypoplasia, ... ORPHA:2059
Ciliary Dyskinesia, Primary, 37
Goiter, Situs inversus totalis, Dextrocardia, Chronic rhinitis, Hypothyroidism, Bronchiectasis, H... OMIM:617577
Sweeney-Cox Syndrome
High palate, Cleft palate, Overfolded helix, Short philtrum, Cutaneous syndactyly, Bilateral cryp... OMIM:617746
Tonne-Kalscheuer Syndrome
Narrow mouth, Hypotelorism, Velopharyngeal insufficiency, Congenital diaphragmatic hernia, Crypto... OMIM:300978
Gillessen-Kaesbach-Nishimura Syndrome
Proptosis, Pulmonary hypoplasia, Omphalocele, Short long bone, Abnormal heart morphology, Flexion... OMIM:263210
Renpenning Syndrome
Pectus excavatum, Cleft palate, Short philtrum, Macrodontia, Mandibular prognathia, Skeletal musc... ORPHA:3242
Johnson Neuroectodermal Syndrome
Conductive hearing impairment, Protruding ear, Cleft palate, Microtia, Retrognathia, Hypogonadotr... OMIM:147770
Holoprosencephaly 13, X-Linked
Median cleft palate, Cleft palate, Ventricular septal defect, Solitary median maxillary central i... OMIM:301043
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Retrognathia, Broad nasal tip, Micrognathia, Anophthalmia, Hypop... OMIM:615524
Catel-Manzke Syndrome
High palate, Cleft upper lip, Abnormal pinna morphology, Pectus excavatum, Clinodactyly of the 5t... OMIM:616145
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Macrocephaly, Depressed nasal bridge, Cutaneous syndactyly, Ventricular septal defect, Pulmonary ... OMIM:618316
Trisomy 13
Abnormal antihelix morphology, Abnormal helix morphology, Cleft palate, Abnormality of the dentit... ORPHA:3378
Mosaic Trisomy 1
Wide mouth, Abnormal pinna morphology, Macrocephaly, Cleft palate, Depressed nasal bridge, 2-3 fi... ORPHA:1692
Stevenson-Carey Syndrome
Narrow mouth, Prominent nasal tip, Atrial septal defect, Joint contracture of the hand, Gastroeso... OMIM:611961
Microcephaly, Congenital Heart Disease, Unilateral Renal Agenesis, And Hyposegmented Lungs
Short distal phalanx of finger, Cleft palate, Microcephaly, Ventricular septal defect, Hydranence... OMIM:601355
15Q24 Microdeletion Syndrome
Depressed nasal bridge, Abnormality of the dentition, Abnormal heart morphology, Thick lower lip ... ORPHA:94065
Dextrocardia With Unusual Facies And Microphthalmia
Microphthalmia, Cleft palate, Micrognathia, Anophthalmia, Dextrocardia, Prominent nose, Macrotia,... OMIM:221950
Distal Monosomy 13Q
Aplasia/Hypoplasia affecting the eye, Abnormal cardiac septum morphology, Anal atresia, Hypertelo... ORPHA:1590
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Hypoplasia of the radius, Abnormality of the humerus, Hypoplasia of the ulna, Omphalocele, Microp... ORPHA:3186
Congenital Heart Defects And Skeletal Malformations Syndrome
High palate, Dental crowding, Anal atresia, Deeply set eye, Atrial septal defect, Congenital diap... OMIM:617602
Progeroid Facial Appearance With Hand Anomalies
Reduced subcutaneous adipose tissue, Conductive hearing impairment, Protruding ear, Narrow mouth,... OMIM:602249
Meckel Syndrome, Type 1
Abnormal cardiac septum morphology, Wide mouth, Hydrocephalus, Cleft palate, Anencephaly, Malform... OMIM:249000
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Double outlet right ventricle, High palate, Protruding ear, 2-3 toe syndactyly, Atrial septal def... ORPHA:3304
Renal-Hepatic-Pancreatic Dysplasia 2
Aortic valve stenosis, Hepatomegaly, Pulmonic stenosis, Femoral bowing, Cholestasis, Situs invers... OMIM:615415
Emanuel Syndrome
High palate, Multiple joint contractures, Hydrocephalus, Cleft palate, Congenital hip dislocation... ORPHA:96170
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Wide mouth, Macrocephaly, Depressed nasal bridge, Tapered finger, Tented upper lip vermilion, Ope... OMIM:619720
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Short distal phalanx of finger, Bicuspid aortic valve, Anomalous pulmonary venous return, Atrial ... ORPHA:1120
Pentalogy Of Cantrell
Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Abnormal pericardium morpho... ORPHA:1335
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Atrial septal defect, Cryptorchidism, Cleft palate, Thin vermilion border, Microcep... OMIM:615502
Acitretin/Etretinate Embryopathy
High palate, Hypoplastic nasal septum, Median cleft palate, Aplasia/Hypoplasia of the maxilla, Mi... ORPHA:40366
Microgastria-Limb Reduction Defect Syndrome
Hiatus hernia, Hepatomegaly, Tracheoesophageal fistula, Abnormality of the humerus, Microphthalmi... ORPHA:2538
Proboscis Lateralis
High palate, Macrocephaly, Optic disc coloboma, Ventricular septal defect, Proptosis, Abnormal pa... ORPHA:141099
Floating-Harbor Syndrome
Wide mouth, Bulbous nose, Cone-shaped epiphyses of the phalanges of the hand, Short 1st metacarpa... OMIM:136140
Rubinstein-Taybi Syndrome 1
High palate, Pectus excavatum, Cleft palate, Prominent fingertip pads, Premature thelarche, Ventr... OMIM:180849
Holoprosencephaly 2
Proptosis, Median cleft lip and palate, Absent nasal septal cartilage, Solitary median maxillary ... OMIM:157170
Chromosome 14Q11-Q22 Deletion Syndrome
High palate, Plagiocephaly, Abnormal pinna morphology, Narrow mouth, Deeply set eye, Cryptorchidi... OMIM:613457
Microgastria-Limb Reduction Defects Association
Type I truncus arteriosus, Absent thumb, Hypoplasia of the radius, Polymicrogyria, Biliary tract ... OMIM:156810
Atrioventricular Septal Defect, Susceptibility To, 2
Dextrocardia, Right aortic arch with mirror image branching, Pulmonary artery atresia, Atrioventr... OMIM:606217
Craniofrontonasal Dysplasia
High palate, Pectus excavatum, Depressed nasal ridge, Craniosynostosis, Abnormality of the dentit... ORPHA:1520
Marden-Walker Syndrome
High palate, Cleft palate, Radioulnar synostosis, Pyloric stenosis, Pulmonary hypoplasia, Microph... OMIM:248700
Chromosome 15Q25 Deletion Syndrome
Cleft upper lip, Abnormal cardiac septum morphology, Pectus excavatum, Hypertelorism, Congenital ... OMIM:614294
Heart And Brain Malformation Syndrome
Attached earlobe, Depressed nasal bridge, Limb hypertonia, Hypoplasia of the corpus callosum, Ven... OMIM:616920
Cardiac-Urogenital Syndrome
Ventricular septal defect, Pulmonary hypoplasia, Patent urachus, Unilateral cryptorchidism, Hepat... OMIM:618280
Holoprosencephaly-Caudal Dysgenesis Syndrome
Hypertelorism, Cleft palate, Holoprosencephaly, Radial club hand, Microcephaly, Abnormal morpholo... ORPHA:2165
Intellectual Disability-Strabismus Syndrome
High palate, Wide mouth, Recurrent gastroenteritis, Depressed nasal bridge, Abnormality of the de... ORPHA:363528
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility
Situs inversus totalis, Dextrocardia, Asplenia OMIM:618948
Diprosopus
Abnormal cardiac septum morphology, Cleft palate, External ear malformation, Anencephaly, Abnorma... ORPHA:1681
Short-Rib Thoracic Dysplasia 12
Abnormal pinna morphology, Hydrocephalus, Hepatomegaly, Macrocephaly, Anencephaly, Lobulated tong... OMIM:269860
Velocardiofacial Syndrome
Unilateral primary pulmonary dysgenesis, Hypoparathyroidism, Bulbous nose, Velopharyngeal insuffi... OMIM:192430
Monosomy 13Q34
Pulmonic stenosis, Broad nasal tip, Microcephaly, Micrognathia, Agenesis of corpus callosum, Hema... ORPHA:96168
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
High palate, Deeply set eye, Hypertelorism, Cryptorchidism, Supernumerary nipple, Atrioventricula... OMIM:618929
Donnai-Barrow Syndrome
Macrocephaly, Short sternum, Broad nasal tip, Depressed nasal bridge, Ventricular septal defect, ... OMIM:222448
Solitary Median Maxillary Central Incisor
Cleft upper lip, Abnormal nasopharynx morphology, Hypotelorism, Prominent median palatal raphe, D... OMIM:147250
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Hydrocele testis, Atrial septal defect, Broad nasal tip, Depressed nasal bridge, Ventricular sept... OMIM:601927
Xk Aprosencephaly Syndrome
Anal atresia, Narrow mouth, Hypotelorism, Atrial septal defect, Abnormality of the nares, Microce... ORPHA:3469
22Q11.2 Duplication Syndrome
Hypertelorism, Hypoplastic left heart, Depressed nasal ridge, Cleft palate, Micrognathia, Microce... ORPHA:1727
Meckel Syndrome 14
Hypertelorism, Microretrognathia, Holoprosencephaly, Retrognathia, Single ventricle, Decreased ca... OMIM:619879
Autism Spectrum Disorder Due To Auts2 Deficiency
Narrow mouth, Prominent nasal tip, Atrial septal defect, Joint contracture of the hand, Inguinal ... ORPHA:352490
Dextrocardia
Hydrocephalus, Congenital malformation of the great arteries, Intestinal malrotation, Congenital ... ORPHA:1666
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome
Ectopic anus, Hypoplastic left heart, Cleft palate, Anencephaly, Ventricular septal defect, Aplas... ORPHA:2476
Pseudoaminopterin Syndrome
High palate, Hydrocephalus, Pectus excavatum, Macrocephaly, Slender finger, Short philtrum, Clino... ORPHA:221120
Meckel Syndrome
Hydrocephalus, Aplasia/Hypoplasia of the tongue, Cleft palate, Depressed nasal ridge, Anencephaly... ORPHA:564
Zaki Syndrome
High palate, Wide mouth, Ectrodactyly, Congenital diaphragmatic hernia, Micrognathia, Cupped ear,... OMIM:619648
Distal Monosomy 17Q
Abnormal cardiac septum morphology, Narrow mouth, Hepatomegaly, Hypertelorism, Microtia, Abnormal... ORPHA:1597
Heterotaxy, Visceral, 8, Autosomal
Double outlet right ventricle, Hypoplastic left heart, Atrial situs inversus, Unbalanced atrioven... OMIM:617205
Chromosome 6Pter-P24 Deletion Syndrome
High palate, Hydrocephalus, Pectus excavatum, Macrocephaly, Depressed nasal bridge, Ventricular s... OMIM:612582
Laterality Defects, Autosomal Dominant
Situs inversus totalis, Asplenia, Heterotaxy OMIM:601086
Opitz Gbbb Syndrome
High palate, Cleft palate, Craniosynostosis, Aplasia/Hypoplasia of the cerebellar vermis, Tracheo... ORPHA:2745
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome
Arteriovenous malformation, Narrow mouth, Convex nasal ridge, Abnormal hip bone morphology, Micro... ORPHA:1110
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Hydrocephalus, Cleft palate, Craniosynostosis, Depressed nasal bridge, Metacarpophalangeal joint ... OMIM:245600
Oculoauriculofrontonasal Syndrome
Conductive hearing impairment, Narrow mouth, Macrocephaly, Hypertelorism, Cleft palate, Microtia,... ORPHA:398156
Cooper-Jabs Syndrome
Conductive hearing impairment, Congenital diaphragmatic hernia, Malar flattening, Abnormal hip bo... ORPHA:1488
Cebalid Syndrome
High palate, Plagiocephaly, Abnormal pinna morphology, Hypertelorism, Congenital diaphragmatic he... OMIM:618774
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Clinodactyly of the 5th finger, Thin vermilion ... ORPHA:2370
Alg3-Cdg
High palate, Abnormal pinna morphology, Hypoplasia of the corpus callosum, Lipodystrophy, Pulmona... ORPHA:79321
Hadziselimovic Syndrome
High palate, U-Shaped upper lip vermilion, Anal atresia, Hypotelorism, Atrial septal defect, Micr... OMIM:612946
Feingold Syndrome 1
High palate, Tracheoesophageal fistula, Depressed nasal tip, Aplasia/Hypoplasia of the middle pha... OMIM:164280
Autosomal Recessive Spondylocostal Dysostosis
Rib fusion, Anomalous pulmonary venous return, Macrocephaly, Congenital diaphragmatic hernia, Ing... ORPHA:2311
Donnai-Barrow Syndrome
Sensorineural hearing impairment, Macrocephaly, Congenital diaphragmatic hernia, Intestinal malro... ORPHA:2143
Arterial Tortuosity Syndrome
High palate, Pectus excavatum, Aortic valve stenosis, Convex nasal ridge, Pulmonary artery stenos... OMIM:208050
Distal Trisomy 5Q
Absent thumb, Craniosynostosis, Hypoplasia of the radius, Carious teeth, Ventricular septal defec... ORPHA:96097
Congenital Tracheomalacia
Atrial septal defect, Gastroesophageal reflux, Single ventricle, Double aortic arch, Recurrent up... ORPHA:95430
22Q11.2 Deletion Syndrome
Tricuspid atresia, Cholelithiasis, Bulbous nose, Hydrocephalus, Cleft palate, Overfolded helix, A... ORPHA:567
8P Inverted Duplication/Deletion Syndrome
Wide mouth, Pectus excavatum, Aplasia/Hypoplasia of the gallbladder, Abnormal heart morphology, P... ORPHA:96092
Czeizel-Losonci Syndrome
High palate, Hydrocephalus, Thin calvarium, Tracheoesophageal fistula, 2-3 finger syndactyly, Pul... ORPHA:2437
Alobar Holoprosencephaly
High palate, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Cleft palate, Abnormal hypothala... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
High palate, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Cleft palate, Abnormal hypothala... ORPHA:93926
Lobar Holoprosencephaly
High palate, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Cleft palate, Abnormal hypothala... ORPHA:93924
Semilobar Holoprosencephaly
High palate, Hydrocephalus, Macrocephaly, Depressed nasal ridge, Cleft palate, Abnormal hypothala... ORPHA:220386
Holoprosencephaly 3
Hypotelorism, Cleft palate, Holoprosencephaly, Malar flattening, Depressed nasal bridge, Microcep... OMIM:142945
Spondylocostal Dysostosis 4, Autosomal Recessive
Myelomeningocele, Rib fusion, Unilateral vertebral artery hypoplasia, Spina bifida occulta, Situs... OMIM:613686
Congenital Alveolar Capillary Dysplasia
Annular pancreas, Pulmonary valve atresia, Bicuspid aortic valve, Anal atresia, Atrial septal def... ORPHA:210122
Lissencephaly Syndrome, Norman-Roberts Type
Low-set ears, Atrial septal defect, Hypertelorism, Microretrognathia, Adducted thumb, Dolichoceph... ORPHA:89844
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Double outlet right ventricle, Abnormal pinna morphology, Hypoplastic left heart, Cerebral atroph... OMIM:618164
Meckel Syndrome, Type 4
Hydrocephalus, Atrial septal defect, Microphthalmia, Cleft palate, Microcephaly, Anencephaly, Hyp... OMIM:611134
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
High palate, Hydrocele testis, Macrocephaly, Cleft palate, Overfolded helix, Depressed nasal brid... OMIM:614080
Hydrolethalus
Hydrocephalus, Deeply set eye, Cryptorchidism, Cleft palate, Abnormality of the sense of smell, R... ORPHA:2189
Floating-Harbor Syndrome
Wide mouth, Short metacarpal, Broad nasal tip, Long nose, Short philtrum, 11 pairs of ribs, Micro... ORPHA:2044
Pericardial And Diaphragmatic Defect
Mitral stenosis, Bicuspid aortic valve, Pulmonary sequestration, Atrial septal defect, Congenital... ORPHA:2847
Ehlers-Danlos Syndrome, Musculocontractural Type, 2
Facial hypotonia, High palate, Protruding ear, Narrow mouth, Cerebral atrophy, Inguinal hernia, A... OMIM:615539
Fetal Alcohol Syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate, Microphthalmia, Micrognathia... ORPHA:1915
Isotretinoin-Like Syndrome
Hydrocephalus, Cleft palate, Anotia, Abnormality of the pulmonary veins, Abnormal cardiac ventric... ORPHA:2306
Neuronal Intestinal Pseudoobstruction
Abnormal cardiac septum morphology, Malabsorption, Congenital diaphragmatic hernia, Patent ductus... ORPHA:99811
2Q37 Microdeletion Syndrome
Macrocephaly, Depressed nasal bridge, Pyloric stenosis, Abnormal aortic morphology, Umbilical her... ORPHA:1001
Frontoocular Syndrome
High palate, Narrow mouth, Hypotelorism, Atrial septal defect, Pectus excavatum, Narrow philtrum,... OMIM:605321
Mosaic Variegated Aneuploidy Syndrome 2
Bulbous nose, Craniosynostosis, Depressed nasal bridge, Ventricular septal defect, Short nose, De... OMIM:614114
Yunis-Varon Syndrome
Abnormal pinna morphology, Hydrocephalus, Slender long bones with narrow diaphyses, Absent thumb,... ORPHA:3472
Biliary, Renal, Neurologic, And Skeletal Syndrome
Hydrocephalus, Hepatomegaly, Atrioventricular canal defect, Depressed nasal bridge, Cholestasis, ... OMIM:619534
Proximal 16P11.2 Microdeletion Syndrome
Sensorineural hearing impairment, Conductive hearing impairment, Rib fusion, Macrocephaly, Atrial... ORPHA:261197
Mycophenolate Mofetil Embryopathy
Short palm, Hydrocephalus, Hypertelorism, Congenital diaphragmatic hernia, Microtia, Tracheoesoph... ORPHA:268249
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Macrocephaly, Hepatomegaly, Craniosynostosis, Hypoplasia of the corpus callosum, Ventricular sept... OMIM:301056
Cog7-Cdg
Narrow mouth, Abnormality of finger, Hepatomegaly, Adducted thumb, Retrognathia, Micrognathia, He... ORPHA:79333
Diets-Jongmans Syndrome
Thick corpus callosum, Wide mouth, Duodenal atresia, Congenital diaphragmatic hernia, Low hanging... OMIM:618846
Thakker-Donnai Syndrome
Anal atresia, Bulbous nose, Narrow mouth, Congenital diaphragmatic hernia, Tracheoesophageal fist... ORPHA:1780
Fryns Syndrome
Wide mouth, Abnormal helix morphology, Cleft palate, Hypoplasia of the optic tract, Prominent fin... OMIM:229850
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Abnormal cardiac septum morphology, Depressed nasal bridge, Congenital hip dislocation, Hypoplast... OMIM:308050
Focal Dermal Hypoplasia
Abnormal cardiac septum morphology, Abnormality of the dentition, Ventricular septal defect, Hypo... ORPHA:2092
Charge Syndrome
Aplasia of the semicircular canal, Cleft palate, Tracheoesophageal fistula, Down-sloping shoulder... OMIM:214800
Lethal Congenital Contracture Syndrome 10
Torticollis, High palate, Narrow palate, Adducted thumb, Micrognathia, Hypoplasia of the thymus, ... OMIM:617022
Thanatophoric Dysplasia Type 2
Hydrocephalus, Atrial septal defect, Holoprosencephaly, Short stature, Polyhydramnios, Patent duc... ORPHA:93274
Catel-Manzke Syndrome
Pectus excavatum, Atrial septal defect, Clinodactyly of the 5th finger, Cleft palate, Malar flatt... ORPHA:1388
Ciliary Dyskinesia, Primary, 39
Double outlet right ventricle, Dextrocardia, Recurrent lower respiratory tract infections, Bronch... OMIM:618254
Renal-Hepatic-Pancreatic Dysplasia 1
Hepatomegaly, Malformation of the hepatic ductal plate, Cholestasis, Hepatic cysts, Pulmonary hyp... OMIM:208540
Intellectual Developmental Disorder, Autosomal Dominant 26
Wide mouth, Narrow mouth, Prominent nasal tip, Hypertelorism, Clinodactyly of the 5th finger, Ing... OMIM:615834
Burn-Mckeown Syndrome
Cleft palate, Short philtrum, Ventricular septal defect, Mandibular prognathia, Cleft upper lip, ... OMIM:608572
Greig Cephalopolysyndactyly Syndrome
Hydrocephalus, Macrocephaly, Congenital diaphragmatic hernia, Finger syndactyly, Craniosynostosis... ORPHA:380
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Low-set ears, Cerebral cortical atrophy, Deeply set eye, Holoprosenc... ORPHA:2570
White-Sutton Syndrome
High palate, Cleft palate, Broad nasal tip, Depressed nasal bridge, Depressed nasal tip, Short ph... OMIM:616364
Maternal Phenylketonuria
Double outlet right ventricle, High palate, Hypotelorism, Hypoplastic left heart, Micrognathia, M... ORPHA:2209
Seckel Syndrome 9
Protruding ear, Atrial septal defect, Convex nasal ridge, Congenital diaphragmatic hernia, Dolich... OMIM:616777
Craniotelencephalic Dysplasia
Hydrocephalus, Craniosynostosis, Microcephaly, Low-set, posteriorly rotated ears, Cerebellar hypo... ORPHA:1528
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Wide mouth, Pectus excavatum, Cone-shaped epiphysis, Hypoplasia of the corpus callosum, Tapered f... OMIM:618659
Hennekam Lymphangiectasia-Lymphedema Syndrome 2
Narrow mouth, Hypertelorism, Microtia, Pulmonary lymphangiectasia, Depressed nasal bridge, Syndac... OMIM:616006
Chromosome 9P Deletion Syndrome
High palate, Clinodactyly of the 4th toe, Depressed nasal bridge, Tapered finger, Ventricular sep... OMIM:158170
Porencephaly, Cerebellar Hypoplasia, And Internal Malformations
Atrial septal defect, Cerebellar hypoplasia, Agenesis of cerebellar vermis, Tetralogy of Fallot, ... OMIM:601322
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Abnormal cardiac septum morphology, Narrow mouth, Hypertelorism, Depr... ORPHA:2412
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Abnormal cardiac septum morphology, Narrow mouth, Hydrocephalus, Macrocephaly, Depressed nasal br... ORPHA:83473
Insulin-Like Growth Factor I, Resistance To
Reduced subcutaneous adipose tissue, High palate, Pectus excavatum, Hypoplasia of the corpus call... OMIM:270450
Genitourinary And/Or Brain Malformation Syndrome
Macrocephaly, Streak ovary, Polymicrogyria, Short nose, Omphalocele, Acrania, Dysplastic corpus c... OMIM:618820
Ellis-Van Creveld Syndrome
Cleft upper lip, Acetabular spurs, Abnormality of the alveolar ridges, Atrial septal defect, Hypo... OMIM:225500
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Bulbous nose, Narrow mouth, Frontal cortical atrophy, Cryptorchidism, Thin vermilion border, Depr... OMIM:618766
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 3rd toe, Radiculomegaly, Broad nasal tip... OMIM:300166
Distal Monosomy 15Q
Abnormal cardiac septum morphology, Double outlet right ventricle with doubly committed ventricul... ORPHA:1596
Genitopalatocardiac Syndrome
Abnormal cardiac septum morphology, Hydrocephalus, Hypertelorism, Congenital diaphragmatic hernia... ORPHA:2075
Ferguson-Bonni Neurodevelopmental Syndrome
High palate, Pectus excavatum, Hypertelorism, Congenital diaphragmatic hernia, Micrognathia, Coro... OMIM:619699
20P12.3 Microdeletion Syndrome
Narrow mouth, Macrocephaly, Atrial septal defect, Malar flattening, Microtia, Depressed nasal bri... ORPHA:261295
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Pectus excavatum, Depressed nasal bridge, Delayed eruption of teeth, Ventricular septal defect, R... OMIM:235510
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Limb Anomalies
Overlapping toe, Narrow mouth, Clinodactyly of the 5th finger, Slender finger, Small hand, Broad ... OMIM:617755
14Q24.1Q24.3 Microdeletion Syndrome
Dislocated radial head, Atrial septal defect, Cryptorchidism, Intestinal malrotation, Wide nasal ... ORPHA:401935
Aortic Arch Anomaly With Peculiar Facies And Mental Retardation
Microcephaly, Right aortic arch with mirror image branching OMIM:107500
Microcephaly-Microcornea Syndrome, Seemanova Type
High palate, Narrow mouth, Microphthalmia, Retrognathia, Microcephaly, Hypogonadism, Brachycephaly ORPHA:2528
Primary Pulmonary Hypoplasia
Secundum atrial septal defect, Cleft palate, Micrognathia, Microcephaly, Dextrocardia, Abnormal h... ORPHA:2257
17Q23.1Q23.2 Microdeletion Syndrome
Bulbous nose, Depressed nasal bridge, Coxa magna, Sandal gap, Abnormal epiphysis morphology, Clin... ORPHA:261279
Triploidy
Abnormal cardiac septum morphology, Wide mouth, Hydrocephalus, Hepatomegaly, Macrocephaly, Cleft ... ORPHA:3376
Structural Heart Defects And Renal Anomalies Syndrome
Tricuspid atresia, Low-set ears, Overlapping toe, Atrial septal defect, Microcephaly, Tetralogy o... OMIM:617478
Sonoda Syndrome
Ventricular septal defect, Depressed nasal bridge, Narrow mouth OMIM:270460
Whistling Face Syndrome, Recessive Form
High palate, Narrow mouth, Hypertelorism, Inguinal hernia, Malar flattening, Micrognathia, Long p... OMIM:277720
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Ventricular septal defect, Holoprosencephaly, Anterior encephalocele OMIM:601357
Congenitally Corrected Transposition Of The Great Arteries
Ventricular septal defect, Abnormal aortic valve cusp morphology, Abnormal heart morphology, Righ... ORPHA:216694
Vacterl/Vater Association
Abnormal cardiac septum morphology, Anal atresia, Congenital diaphragmatic hernia, Cleft palate, ... ORPHA:887
Meacham Syndrome
Pulmonary sequestration, Anomalous pulmonary venous return, Atrial septal defect, Aortic valve st... ORPHA:3097
Truncus Arteriosus
Single coronary artery origin, Abnormal coronary artery morphology, Ventricular septal defect, In... ORPHA:3384
8p23.1 deletion syndrome
Atrial septal defect, Congenital diaphragmatic hernia, Atrioventricular canal defect, Cryptorchid... DECIPHER:39
Hydrocephalus, Congenital, 3, With Brain Anomalies
Polyhydramnios, Hydrocephalus, Hydranencephaly, Holoprosencephaly OMIM:617967
Phenobarbital Embryopathy
Abnormal mitral valve morphology, Hypertelorism, Malar flattening, Microcephaly, Brachydactyly, T... ORPHA:1919
Wolf-Hirschhorn Syndrome
Abnormal cardiac septum morphology, Cleft palate, Short philtrum, Aplasia/Hypoplasia of the cereb... ORPHA:280
20Q13.33 Microdeletion Syndrome
Bulbous nose, Abnormal cardiac ventricle morphology, Atrial septal defect, Thin vermilion border,... ORPHA:261311
Diabetic Embryopathy
Aplasia/Hypoplasia affecting the eye, Hydrocephalus, Cryptorchidism, Cleft palate, Microtia, Micr... ORPHA:1926
Arthrogryposis, Distal, Type 2E
Narrow mouth, Joint contracture of the hand, Micrognathia, Microcephaly, Mild microcephaly, Absen... OMIM:121070
Phaver Syndrome
Myelomeningocele, Conductive hearing impairment, Overfolded helix, Depressed nasal bridge, Campto... ORPHA:2876
Frank-Ter Haar Syndrome
High palate, Wide mouth, Pectus excavatum, Broad nasal tip, Depressed nasal bridge, Hypoplasia of... OMIM:249420
Warburg Micro Syndrome 1
Perisylvian polymicrogyria, Overlapping toe, Narrow mouth, Deeply set eye, Microphthalmia, Cerebr... OMIM:600118
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Frontonasal Dysplasia 1
Median cleft palate, Broad nasal tip, Cranium bifidum occultum, Hypoplasia of the maxilla, Microp... OMIM:136760
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Upper limb undergrowth, Tetralogy of Fallot, Omphalocele, Lower ... OMIM:613630
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Abnormal pinna morphology, Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, ... OMIM:616546
Diamond-Blackfan Anemia 10
Conductive hearing impairment, Steroid-responsive anemia, Congenital diaphragmatic hernia, Cleft ... OMIM:613309
Distal Tetrasomy 15Q
High palate, Hydrocele testis, Hydrocephalus, Abnormal helix morphology, Craniosynostosis, Pulmon... ORPHA:314588
Ciliary Dyskinesia, Primary, 1
Conductive hearing impairment, Nasal polyposis, Absent frontal sinuses, Communicating hydrocephal... OMIM:244400
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Cleft palate, Overfolded helix, Short philtrum, Hypoplasia of the corpus callosum, Tapered finger... OMIM:301044
Hypertelorism, Microtia, Facial Clefting Syndrome
Cleft upper lip, Conductive hearing impairment, Narrow mouth, 2-3 toe syndactyly, Cleft palate, M... OMIM:239800
Acrocallosal Syndrome
High palate, Abnormal cardiac septum morphology, Abnormal pinna morphology, Wide mouth, Macroceph... OMIM:200990
7Q11.23 Microduplication Syndrome
High palate, Hydrocephalus, Pectus excavatum, Macrocephaly, Craniosynostosis, Overfolded helix, B... ORPHA:96121
Monosomy 18Q
High palate, Wide mouth, Bulbous nose, Hydrocephalus, Pectus excavatum, Depressed nasal bridge, S... ORPHA:1600
Kallmann Syndrome-Heart Disease Syndrome
Double outlet right ventricle, Sensorineural hearing impairment, Cleft palate, Hypogonadotropic h... ORPHA:2326
Pallister-Hall Syndrome
Macrocephaly, Central adrenal insufficiency, Depressed nasal ridge, Atrioventricular canal defect... ORPHA:672
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Pectus excavatum, Attached earlobe, Depressed nasal bridge, Short nose, Mandibular p... ORPHA:1327
Intellectual Developmental Disorder, X-Linked, Syndromic, 35
Tapered finger, Ventricular septal defect, Mandibular prognathia, Bilateral cryptorchidism, Clino... OMIM:300998
Fetal Trimethadione Syndrome
High palate, Atrial septal defect, Abnormal helix morphology, Overfolded helix, Depressed nasal b... ORPHA:1913
Hamel Cerebro-Palato-Cardiac Syndrome
Bulbous nose, Narrow mouth, Atrial septal defect, Cleft palate, Malar flattening, Arachnodactyly,... ORPHA:93946
Xp22.13P22.2 Duplication Syndrome
Flared nostrils, High palate, Pectus excavatum, Hypertelorism, Congenital diaphragmatic hernia, 2... ORPHA:284180
Linear Skin Defects With Multiple Congenital Anomalies 2
Atrial septal defect, Microcephaly, Long philtrum, Tetralogy of Fallot, Hypoplasia of the corpus ... OMIM:300887
3C Syndrome
Abnormal mitral valve morphology, Hydrocephalus, Macrocephaly, Cleft palate, Atrioventricular can... ORPHA:7
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Anal atresia, Plagiocephaly, Tooth agenesis, Narrow palate, Congenital diaphragmatic hernia, Ingu... ORPHA:2063
17P13.3 Microduplication Syndrome
High palate, Narrow mouth, Clinodactyly of the 5th finger, Hypertelorism, Inguinal hernia, Congen... ORPHA:217385
Axial Mesodermal Dysplasia Spectrum
Anal atresia, Gingival overgrowth, Hydrocephalus, Cerebral cortical atrophy, Congenital diaphragm... ORPHA:1834
Congenital Total Pulmonary Venous Return Anomaly
Hepatomegaly, Supracardiac total anomalous pulmonary venous connection, Ventricular septal defect... ORPHA:99125
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Patent ductus arteriosus, Aortic aneurysm, Crypto... ORPHA:261102
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
High palate, Overlapping toe, Atrial septal defect, Hypertelorism, Postaxial polydactyly, Retrogn... OMIM:618142
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Bulbous nose, Overfolded helix, Small cerebral cortex, Short philtrum, Microdontia, Hypoplasia of... OMIM:617360
Neutropenia, Severe Congenital, 4, Autosomal Recessive
High palate, Hepatomegaly, Cleft palate, Cor triatriatum, Splenomegaly, Erythroid hypoplasia, Rec... OMIM:612541
Limb Body Wall Complex
Hydrocephalus, Cleft palate, Depressed nasal bridge, Aplasia of the proximal phalanges of the han... ORPHA:2369
Auriculocondylar Syndrome 2
Cleft at the superior portion of the pinna, Dental malocclusion, Abnormal pinna morphology, Narro... OMIM:614669
Fallot Complex With Severe Mental And Growth Retardation
Double outlet right ventricle, Ventricular septal defect, Pulmonic stenosis, Tetralogy of Fallot OMIM:601127
Meckel Syndrome, Type 10
Abnormal pinna morphology, Cleft palate, Postaxial polydactyly, Anencephaly, Bifid uvula, Cerebel... OMIM:614175
8Q12 Microduplication Syndrome
Sensorineural hearing impairment, Narrow mouth, Atrial septal defect, Gastroesophageal reflux, Ev... ORPHA:228399
Acalvaria
Hydrocephalus, Spina bifida, Holoprosencephaly ORPHA:945
Renpenning Syndrome 1
High palate, Bulbous nose, Pectus excavatum, Cleft palate, Short philtrum, Macrodontia, Ventricul... OMIM:309500
Doors Syndrome
High palate, Bulbous nose, Macrodontia of permanent maxillary central incisor, Cleft palate, Broa... ORPHA:79500
Heart Defects, Congenital, And Other Congenital Anomalies
Hypoplastic tricuspid valve, Biliary atresia, Ventricular septal defect, Pancreatic hypoplasia, U... OMIM:600001
Alazami-Yuan Syndrome
High palate, Narrow mouth, Microcephaly, Long philtrum, Broad hallux, Prominent nose, Dental crow... OMIM:617126
White-Sutton Syndrome
High palate, Broad nasal tip, Depressed nasal bridge, Short philtrum, Hypoplasia of the corpus ca... ORPHA:468678
Thoracoabdominal Syndrome
Cleft upper lip, Hydrocephalus, Congenital diaphragmatic hernia, Cleft palate, Anencephaly, Ectop... OMIM:313850
Aymé-Gripp Syndrome
Hydrocephalus, Cleft palate, Craniosynostosis, Depressed nasal bridge, Shallow orbits, Hypoplasia... ORPHA:1272
Trisomy 17P
High palate, Wide mouth, Hydrocephalus, Cleft palate, Tapered finger, Thick nasal alae, Skeletal ... ORPHA:261290
49,Xxxxy Syndrome
Depressed nasal ridge, Cleft palate, Depressed nasal bridge, Down-sloping shoulders, Delayed erup... ORPHA:96264
Pagod Syndrome
Hypoplastic left heart, Congenital diaphragmatic hernia, Microcephaly, Abnormality of the spleen,... ORPHA:991
Desmosterolosis
Hydrocephalus, Anomalous pulmonary venous return, Macrocephaly, Cleft palate, Depressed nasal bri... ORPHA:35107
Intellectual Developmental Disorder, Autosomal Dominant 43
High palate, Frontal cortical atrophy, Attached earlobe, Short philtrum, Hypoplasia of the corpus... OMIM:616977
Craniotelencephalic Dysplasia
Hypotelorism, Absent septum pellucidum, Craniosynostosis, Optic nerve hypoplasia, Cerebellar hypo... OMIM:218670
Schisis Association
Anal atresia, Congenital diaphragmatic hernia, Cleft palate, Tracheoesophageal fistula, Microceph... ORPHA:63862
Holoprosencephaly 1
Hypotelorism, Alobar holoprosencephaly, Single ventricle, Aplasia of the nose, Microcephaly, Ethm... OMIM:236100
Microhydranencephaly
Multiple joint contractures, Microcephaly, Cerebellar hypoplasia, Proptosis, Macrotia, Skeletal m... OMIM:605013
Cornelia De Lange Syndrome 1
High palate, Malrotation of colon, Hiatus hernia, Short sternum, Cleft palate, Hypoplasia of the ... OMIM:122470
Microphthalmia With Limb Anomalies
High palate, Hydrocephalus, Cleft palate, Depressed nasal bridge, Macrodontia, True anophthalmia,... ORPHA:1106
Ciliary Dyskinesia, Primary, 25
Sinusitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Recurrent r... OMIM:615482
Meckel Syndrome, Type 8
Cleft upper lip, Cleft palate, Depressed nasal ridge, Encephalocele, Microcephaly, Anophthalmia, ... OMIM:613885
Bohring-Opitz Syndrome
Depressed nasal bridge, Hypoplasia of the corpus callosum, Tapered finger, Ventricular septal def... OMIM:605039
Congenital Heart Defects, Multiple Types, 7
Absence of the pulmonary valve, Pulmonic stenosis, Double aortic arch, Tetralogy of Fallot, Pulmo... OMIM:618780
De Barsy Syndrome
High palate, Pectus excavatum, Congenital hip dislocation, Delayed eruption of teeth, Ventricular... ORPHA:2962
Nemaline Myopathy 2
High palate, Cleft palate, Weakness of facial musculature, Increased variability in muscle fiber ... OMIM:256030
Distal 22Q11.2 Microdeletion Syndrome
Cleft palate, Branchial fistula, Ulnar deviation of finger, Ventricular septal defect, Pyloric st... ORPHA:261330
Neu-Laxova Syndrome 1
Cleft palate, Ventricular septal defect, Small placenta, Proptosis, Pulmonary hypoplasia, Microph... OMIM:256520
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Bulbous nose, Clinodactyly of the 5th finger, Microretrognathia, 2-3 toe syndactyly, Cutaneous sy... OMIM:236500
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Hydrocephalus, Cryptorchidism, Holoprosencephaly, Tracheoesophageal fistula, Anophthalmia, 11 pai... ORPHA:77298
Smith-Lemli-Opitz Syndrome
Wide mouth, Cleft palate, Atrioventricular canal defect, Advanced eruption of teeth, Aplasia/Hypo... ORPHA:818
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Double outlet right ventricle, Bicuspid aortic valve, Abnormal pinna morphology, Atrial septal de... ORPHA:477817
Agnathia-Otocephaly Complex
Conductive hearing impairment, Narrow mouth, Secundum atrial septal defect, Cleft palate, Holopro... OMIM:202650
Simpson-Golabi-Behmel Syndrome, Type 1
Posterior helix pit, Wide mouth, Hydrocephalus, Hepatomegaly, Hepatoblastoma, Cleft palate, Pectu... OMIM:312870
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Wide mouth, Bulbous nose, Pectus excavatum, Slender finger, Ventricular septal defect, Umbilical ... ORPHA:329224
Congenital Pseudoarthrosis Of The Clavicle
Situs inversus totalis, Dextrocardia, Cervical ribs, Congenital pseudoarthrosis of the clavicle ORPHA:66630
Coffin-Siris Syndrome 1
High palate, Wide mouth, Abnormal pinna morphology, Short sternum, Cleft palate, Prominent finger... OMIM:135900
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Clinodactyly of the 5th finger, Hypertelorism, Congenital diaphragmatic herni... OMIM:601163
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Hydrocele testis, Pectus excavatum, Cleft palate, Large basal ganglia, Depressed nasal tip, Pulmo... ORPHA:261537
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome
Narrow mouth, Protruding ear, Gastroesophageal reflux, Micrognathia, Camptodactyly of finger, Mic... ORPHA:1495
1Q21.1 Microduplication Syndrome
Hydrocephalus, Macrocephaly, Gastroesophageal reflux, Cryptorchidism, Tetralogy of Fallot, Fronta... ORPHA:250994
Microhydranencephaly, X-Linked
Multiple joint contractures, Intrauterine growth retardation, Holoprosencephaly OMIM:306990
Joubert Syndrome With Ocular Defect
Hydrocephalus, Aganglionic megacolon, Cleft palate, Hand polydactyly, Retinal coloboma, Abnormali... ORPHA:220493
Gastrointestinal Defects And Immunodeficiency Syndrome 1
Hematochezia, Ventricular septal defect, Omphalocele, Colonic atresia, Jejunal atresia, Hypertelo... OMIM:243150
Microphthalmia With Limb Anomalies
High palate, Cleft palate, Depressed nasal bridge, Short nose, Sandal gap, Microphthalmia, Cleft ... OMIM:206920
Pelvis-Shoulder Dysplasia
Abnormal pinna morphology, Hydrocephalus, Cleft palate, Absent proximal finger flexion creases, M... ORPHA:2839
Poland Syndrome
Rib fusion, Unilateral oligodactyly, Hypoplasia of latissimus dorsi muscle, Unilateral absence of... OMIM:173800
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Branchial fistula, Tracheoes... ORPHA:861
Ring Chromosome 21 Syndrome
Short stature, Holoprosencephaly, Abnormal heart morphology ORPHA:1445
2Q32Q33 Microdeletion Syndrome
High palate, Dental crowding, Narrow mouth, Clinodactyly of the 5th finger, Convex nasal ridge, T... ORPHA:251019
Charge Syndrome
Abnormal cardiac septum morphology, Cleft palate, Overfolded helix, Depressed nasal bridge, Trach... ORPHA:138
Carpenter Syndrome 2
High palate, Pectus excavatum, Craniosynostosis, Depressed nasal bridge, Carious teeth, Umbilical... OMIM:614976
Myhre Syndrome
Macrocephaly, Cleft palate, Short philtrum, Cone-shaped epiphysis, Ventricular septal defect, Hyp... OMIM:139210
Anencephaly 2
Median cleft palate, Anencephaly, Bifid nose, Anophthalmia, Median cleft lip, Cleft of alveolar r... OMIM:619452
Acrocallosal Syndrome
Sensorineural hearing impairment, Macrocephaly, Congenital diaphragmatic hernia, Inguinal hernia,... ORPHA:36
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Carious teeth, Ventricular septal defect, Broad hallux, Pneumonia, Abnormal heart morphology, Pat... ORPHA:353281
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Cleft palate, Depressed nasal bridge, Hypoplasia of the corpus call... ORPHA:513456
Carpenter Syndrome 1
High palate, Abnormal pinna morphology, Aplasia/Hypoplasia of the middle phalanges of the toes, D... OMIM:201000
Lambotte Syndrome
Preaxial foot polydactyly, Narrow mouth, Convex nasal ridge, Retrognathia, Microcephaly, Ventricu... OMIM:245552
Ciliary Dyskinesia, Primary, 20
Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Recurrent pneumonia, Bronchiectasis, R... OMIM:615067
3P25.3 Microdeletion Syndrome
Cleft palate, Depressed nasal bridge, Short philtrum, 2-3 finger syndactyly, Tapered finger, Pylo... ORPHA:435638
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Bicuspid aortic valve, Bulbous nose, Deeply set eye, Microcephaly, Coarctation of aorta, Broad ha... OMIM:612474
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Large earlobe, Prominent ear helix, Bulbous nose, Abnormal spaced incisors, Everted lower lip ver... ORPHA:411986
Chromosome 1P35 Deletion Syndrome
High palate, Narrow mouth, Hypertelorism, Cryptorchidism, Micrognathia, Microcephaly, Hearing imp... OMIM:617930
Distal 7Q11.23 Microdeletion Syndrome
Microcephaly, Patent ductus arteriosus, Atrial septal defect, Porencephalic cyst ORPHA:254351
Chromosome 16P13.3 Duplication Syndrome
Bulbous nose, Protruding ear, Atrial septal defect, Pectus excavatum, Malar flattening, Short toe... OMIM:613458
Hydrolethalus Syndrome 1
Abnormal pinna morphology, Cleft palate, Anencephaly, Upper limb undergrowth, Ventricular septal ... OMIM:236680
Atrial Septal Defect 2
Atrial septal defect, Atrioventricular canal defect, Pulmonic stenosis, Ventricular septal defect... OMIM:607941
Thoraco-Abdominal Enteric Duplication
Hepatomegaly, Intestinal malrotation, Camptodactyly of finger, Dextrocardia, Meningocele, Missing... ORPHA:1759
Hypomandibular Faciocranial Dysostosis
Narrow mouth, Trigonocephaly, Atrial septal defect, Aplasia/Hypoplasia of the tongue, Cleft palat... ORPHA:1790
Tetralogy Of Fallot
Clinodactyly of the 5th finger, Dolichocephaly, Abnormal nasal morphology, Thin vermilion border,... ORPHA:3303
Johanson-Blizzard Syndrome
Sensorineural hearing impairment, Abnormal cardiac septum morphology, Anal atresia, Malabsorption... ORPHA:2315
Teebi-Shaltout Syndrome
Wide mouth, Pectus excavatum, Cleft palate, Broad nasal tip, Ventricular septal defect, Microphth... OMIM:272950
Mowat-Wilson Syndrome
Hydrocele testis, Abnormal cardiac septum morphology, Pectus excavatum, Cleft palate, Large basal... ORPHA:2152
Viss Syndrome
High palate, Tortuous cerebral arteries, Chronic gastritis, Celiac disease, Pectus excavatum, Dep... OMIM:619472
16P13.11 Microduplication Syndrome
Pectus excavatum, Atrial septal defect, Craniosynostosis, Dolichocephaly, Arachnodactyly, Coarcta... ORPHA:261243
Oculocerebrocutaneous Syndrome
Wide mouth, Hydrocephalus, Congenital hip dislocation, Polymicrogyria, Aplasia/Hypoplasia of the ... ORPHA:1647
Marbach-Rustad Progeroid Syndrome
Reduced subcutaneous adipose tissue, Eruption failure, Narrow mouth, Convex nasal ridge, Hypodont... OMIM:619322
Patent Ductus Arteriosus-Bicuspid Aortic Valve-Hand Anomalies Syndrome
Bicuspid aortic valve, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta, Patent duc... ORPHA:228190
Hypermethioninemia Due To Adenosine Kinase Deficiency
Sensorineural hearing impairment, Macrocephaly, Atrial septal defect, Cerebral atrophy, Pulmonic ... OMIM:614300
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral triphalangeal thumbs, Short distal phalanx of finger, Narrow mouth, Precocious puberty,... OMIM:619356
Patent Ductus Arteriosus And Bicuspid Aortic Valve With Hand Anomalies
Short toe, Bicuspid aortic valve, Clinodactyly of the 5th finger, Pseudocoarctation of the aorta,... OMIM:604381
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Flexion contracture of thumb, Pectus excavatum, Hepatomegaly, Hepatoblastoma, Absent glenoid foss... ORPHA:96334
Marden-Walker Syndrome
Hydrocephalus, Pectus excavatum, Cleft palate, Radioulnar synostosis, Ventricular septal defect, ... ORPHA:2461
Baraitser-Winter Syndrome 1
Wide mouth, Overfolded helix, Short nose, Microphthalmia, Pachygyria, Midface retrusion, Cleft up... OMIM:243310
Gm1 Gangliosidosis
Depressed nasal ridge, Broad nasal tip, Depressed nasal bridge, Aplasia/Hypoplasia of the abdomin... ORPHA:354
19P13.3 Microduplication Syndrome
Cleft palate, Short philtrum, Ventricular septal defect, Hip subluxation, Precocious puberty, Mic... ORPHA:447980
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
High palate, Hydrocele testis, Abnormal subclavian artery morphology, Carious teeth, Ventricular ... ORPHA:353277
Ciliary Dyskinesia, Primary, 38
Conductive hearing impairment, Situs inversus totalis, Dextrocardia, Chronic sinusitis, Bronchiec... OMIM:618063
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hydrocele testis, Pectus excavatum, Cleft palate, Large basal ganglia, Depressed nasal tip, Pulmo... ORPHA:261552
Arthrogryposis, Distal, Type 1C
High palate, Hip contracture, Narrow mouth, Clinodactyly of the 5th finger, Metacarpophalangeal j... OMIM:619110
Kaufman Oculocerebrofacial Syndrome
High palate, Abnormal pinna morphology, Depressed nasal bridge, Congenital hip dislocation, Hypop... OMIM:244450
Otopalatodigital Syndrome Type 2
Abnormal cardiac septum morphology, Abnormal pinna morphology, Hydrocephalus, Cleft palate, Depre... ORPHA:90652
Turnpenny-Fry Syndrome
Tricuspid valve prolapse, High palate, Pectus excavatum, Short sternum, Abnormality of the dentit... OMIM:618371
Fg Syndrome Type 1
High palate, Wide mouth, Hydrocephalus, Malrotation of colon, Macrocephaly, Craniosynostosis, Pyl... ORPHA:93932
Neurooculocardiogenitourinary Syndrome
Sensorineural hearing impairment, Bilateral cryptorchidism, Atrial septal defect, Hypertelorism, ... OMIM:618652
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Plagiocephaly, Narrow mouth, Deeply set eye, Hypertelorism, Microtia, Everted lower lip vermilion... OMIM:618089
Fibrochondrogenesis 1
Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Short nose, Proptosis, Omphaloce... OMIM:228520
Ciliary Dyskinesia, Primary, 14
Chronic bronchitis, Heterotaxy, Situs inversus totalis, Chronic sinusitis, Recurrent pneumonia, B... OMIM:613807
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Wide mouth, Bulbous nose, Plagiocephaly, Hypertelorism, Cryptorchidism, Macroglossia, Everted low... OMIM:616789
Stormorken Syndrome
Deeply set eye, Hypotelorism, Prominent nose, Asplenia, Anemia, Thrombocytopenia, Epistaxis, Stro... OMIM:185070
Juvenile Polyposis Of Infancy
Melena, Macrocephaly, Depressed nasal bridge, Hematochezia, Rectal prolapse, Subcutaneous lipoma,... ORPHA:79076
Yunis-Varon Syndrome
High palate, Absent nipple, Absent thumb, Decreased calvarial ossification, Short philtrum, Conge... OMIM:216340
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Macrocephaly, Slender finger, Cleft palate, Abnormality of the dentition, Short phil... ORPHA:251028
Lessel-Kreienkamp Syndrome
Dental malocclusion, Bicuspid aortic valve, Plagiocephaly, Atrial septal defect, Gastroesophageal... OMIM:619149
Lujan-Fryns Syndrome
High palate, Protruding ear, Pectus excavatum, Atrial septal defect, Macroorchidism, Macrocephaly... ORPHA:776
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Atrial septal defect, Hypoplastic left heart, Abnormal descending aorta morphology, Anomalous ori... ORPHA:99050
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
High palate, Pectus excavatum, Thin metacarpal cortices, Abnormality of the thymus, Cardiomegaly,... ORPHA:2463
X-Linked Intellectual Disability, Nascimento Type
Wide mouth, Macrocephaly, Depressed nasal bridge, Ventricular septal defect, Abnormal cerebral wh... ORPHA:163956
Cerebrooculonasal Syndrome
High palate, U-Shaped upper lip vermilion, Abnormality of the nares, Long philtrum, Low-set, post... ORPHA:66625
Ciliary Dyskinesia, Primary, 7
Situs inversus totalis, Dextrocardia, Chronic rhinitis, Recurrent pneumonia, Bronchiectasis OMIM:611884
Aortic Arch Interruption
Double outlet right ventricle, Abnormal ascending aorta morphology, Bicuspid aortic valve, Aortic... ORPHA:2299
Mental Retardation, Buenos Aires Type
High palate, Wide mouth, Protruding ear, Dental malocclusion, Atrial septal defect, Hydrocephalus... OMIM:249630
Charlie M Syndrome
Narrow mouth, Tooth agenesis, Finger syndactyly, Thin vermilion border, Micrognathia, Short philt... ORPHA:1406
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hypoplastic tricuspid valve, Exocrine pancreatic insufficiency, Biliary atresia, Ventricular sept... ORPHA:2255
Cutis Laxa, Autosomal Recessive, Type Ib
High palate, Bulbous nose, Abnormal pinna morphology, Pectus excavatum, Depressed nasal bridge, P... OMIM:614437
Dyssegmental Dysplasia, Silverman-Handmaker Type
Hydrocephalus, Cleft palate, Proptosis, Pulmonary hypoplasia, Encephalocele, Short long bone, Abn... ORPHA:1865
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Pectus excavatum, Macrocephaly, Long nose, Short philtrum, Ventricular septal defect... OMIM:309520
Trisomy 18P
Abnormal pinna morphology, Narrow mouth, Hypotelorism, High, narrow palate, Abnormality of finger... ORPHA:1715
Spinal Muscular Atrophy With Congenital Bone Fractures 1
High palate, Narrow mouth, Muscle fiber atrophy, Secundum atrial septal defect, Microretrognathia... OMIM:616866
Isolated Dandy-Walker Malformation
Cleft palate, Prominent occiput, Tetralogy of Fallot, Frontal bossing, Encephalocele, Platybasia,... ORPHA:217
Zechi-Ceide Syndrome
Abnormal helix morphology, Cleft palate, Short philtrum, Sandal gap, Mandibular prognathia, Midfa... ORPHA:217017
Developmental And Epileptic Encephalopathy 70
Narrow mouth, Cerebral cortical atrophy, Hypertelorism, Cryptorchidism, Flexion contracture, Micr... OMIM:618298
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Pectus excavatum, Slender finger, Short philtrum, Down-sloping shoulders, Hypoplasia of the corpu... ORPHA:391408
Cleft Palate, Cardiac Defects, And Mental Retardation
Cleft palate, Cutaneous syndactyly, Ventricular septal defect, Broad hallux, Tented upper lip ver... OMIM:600987
1Q21.1 Microdeletion Syndrome
High palate, Abnormal cardiac septum morphology, Bulbous nose, Hydrocephalus, Microphthalmia, Ank... ORPHA:250989
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Sensorineural hearing impairment, Narrow mouth, Hypotelorism, Pectus excavatum, Cryptorchidism, M... OMIM:616817
Linear Skin Defects With Multiple Congenital Anomalies 1
Anal atresia, Hydrocephalus, Atrial septal defect, Congenital diaphragmatic hernia, Cleft palate,... OMIM:309801
Congenital Heart Defects, Multiple Types, 5
Double outlet right ventricle, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis... OMIM:617912
Meckel Syndrome, Type 2
Microphthalmia, Cleft palate, Intestinal malrotation, Anencephaly, Polydactyly, Postaxial hand po... OMIM:603194
Kabuki Syndrome
High palate, Abnormal cardiac septum morphology, Hydrocephalus, Cleft palate, Abnormality of the ... ORPHA:2322
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
High palate, Wide mouth, Hydrocele testis, Proportionate shortening of all digits, Overfolded hel... ORPHA:280633
Monosomy 9P
Abnormal antihelix morphology, High palate, Cleft palate, Depressed nasal bridge, Abnormality of ... ORPHA:261112
Cutis Laxa-Marfanoid Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Arachnodactyly, Emphysema, Abnormal heart v... ORPHA:171719
Down Syndrome
Atrioventricular canal defect, Ventricular septal defect, Sandal gap, Double outlet right ventric... OMIM:190685
Myopathy, Centronuclear, 5
High palate, Hip contracture, Narrow mouth, Retrognathia, Micrognathia, Dilated cardiomyopathy, F... OMIM:615959
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
High palate, Bulbous nose, Pectus excavatum, Overfolded helix, Depressed nasal bridge, Short phil... OMIM:617061
Hennekam Syndrome
Arteriovenous malformation, Lymphangioma, Craniosynostosis, Depressed nasal bridge, Short philtru... ORPHA:2136
Adams-Oliver Syndrome 4
Short toe, Absent middle phalanx of the 3rd toe, Atrial septal defect, Aplasia of the middle phal... OMIM:615297
Coffin-Siris Syndrome 10
Wide mouth, Persistence of primary teeth, Microcephaly, Ventricular septal defect, Clinodactyly, ... OMIM:618506
Proximal 16P11.2 Microduplication Syndrome
Deeply set eye, Congenital diaphragmatic hernia, Microtia, Arachnodactyly, Abnormal basal ganglia... ORPHA:370079
Peroxisome Biogenesis Disorder 2A (Zellweger)
Abnormal helix morphology, Joint contracture of the hand, Cleft palate, Hepatomegaly, Dolichoceph... OMIM:214110
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum
Atrioventricular canal defect, Broad nasal tip, Tapered finger, Thin corpus callosum, Cyst of the... OMIM:619480
Holoprosencephaly 5
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Syntelencephaly, Semilobar holoprosen... OMIM:609637
Simpson-Golabi-Behmel Syndrome
Wide mouth, Pectus excavatum, Abnormal helix morphology, Hepatoblastoma, Cleft palate, Hepatomega... ORPHA:373
Conotruncal Heart Malformations
Double outlet right ventricle, Postaxial polydactyly, Coarctation of aorta, Broad hallux, Complet... OMIM:217095
Perlman Syndrome
Congenital diaphragmatic hernia, Long upper lip, Cryptorchidism, Depressed nasal bridge, Microgna... OMIM:267000
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Anal atresia, Hydrocephalus, Atrioventricular canal defect, Tracheoesophageal fistula, Short hume... OMIM:314390
Hajdu-Cheney Syndrome
Hydrocephalus, Macrocephaly, Hepatomegaly, Cleft palate, Abnormality of the dentition, Ventricula... ORPHA:955
Lethal Faciocardiomelic Dysplasia
Narrow mouth, Microretrognathia, Hypoplastic left heart, Hypoplasia of the radius, Radial club ha... ORPHA:1972
Cardiac Diverticulum
Tricuspid atresia, Tricuspid stenosis, Ventricular septal defect, Omphalocele, Umbilical hernia, ... ORPHA:1686
Hydrolethalus Syndrome 2
Hydrocephalus, Cleft palate, Micrognathia, Anencephaly, Postaxial hand polydactyly, Postaxial foo... OMIM:614120
Microphthalmia, Syndromic 3
Sensorineural hearing impairment, Optic nerve aplasia, Rib fusion, Anterior pituitary hypoplasia,... OMIM:206900
Absence Of The Pulmonary Artery
Abnormal cardiac septum morphology, Atrial septal defect, Pulmonary edema, Abnormal coronary arte... ORPHA:980
10Q22.3Q23.3 Microduplication Syndrome
Deeply set eye, Hypotelorism, Microretrognathia, Abnormality of the dentition, Microcephaly, Tetr... ORPHA:276422
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
High palate, Bulbous nose, Hydrocephalus, Macrocephaly, Short philtrum, Congenital hip dislocatio... OMIM:619512
Walker-Warburg Syndrome
Hydrocephalus, Macrocephaly, Cleft palate, Polymicrogyria, Microphthalmia, Pachygyria, Skeletal m... ORPHA:899
Cardiospondylocarpofacial Syndrome
Wide mouth, Bulbous nose, Muscular ventricular septal defect, Cone-shaped epiphysis, Ventricular ... OMIM:157800
Faciocardiomelic Syndrome
Wide mouth, Dental malocclusion, Depressed nasal bridge, Microcephaly, Micrognathia, Long philtru... OMIM:612731
Fraser Syndrome 1
Abnormal pinna morphology, Hydrocephalus, Cleft palate, Depressed nasal bridge, Cleft ala nasi, P... OMIM:219000
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Double outlet right ventricle, Hypoparathyroidism, Narrow palate, Atrial septal defect, Hypertelo... OMIM:618223
1Q41Q42 Microdeletion Syndrome
Deeply set eye, Hypotelorism, Congenital diaphragmatic hernia, Cleft palate, Holoprosencephaly, H... ORPHA:250999
Mosaic Trisomy 14
High palate, Wide mouth, Ectopic anus, Aplasia/Hypoplasia affecting the eye, Cryptorchidism, Clef... ORPHA:1703
Schuurs-Hoeijmakers Syndrome
Abnormal cardiac septum morphology, Bicuspid aortic valve, Bulbous nose, Wide mouth, Hyperteloris... OMIM:615009
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Pectus excavatum, 11 pairs of ribs, Short nose, Sandal gap, Midface retrusion, Clino... OMIM:617877
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Double outlet right ventricle, Bicuspid aortic valve, Hypoplastic left heart, Anomalous origin of... OMIM:618845
Peroxisome Biogenesis Disorder 12A (Zellweger)
Double outlet right ventricle, Cholelithiasis, Hydrocephalus, Atrial septal defect, Cerebral atro... OMIM:614886
White Forelock With Malformations
Prominent veins on trunk, Hypertelorism, Atrial septal defect, Aplasia/Hypoplasia of the distal p... OMIM:277740
Coffin-Siris Syndrome 6
Conductive hearing impairment, Plagiocephaly, Pectus excavatum, Atrial septal defect, High, narro... OMIM:617808
Li-Ghorbani-Weisz-Hubshman Syndrome
Overlapping toe, Hypotelorism, Atrial septal defect, Clinodactyly of the 5th finger, Depressed na... OMIM:618974
Gracile Bone Dysplasia
Hydrocephalus, Thin ribs, Flared metaphysis, Brachydactyly, Slender long bone, Hypoplastic spleen... OMIM:602361
Chondrodysplasia With Joint Dislocations, Gpapp Type
Narrow mouth, Short toe, Cleft palate, Coronal craniosynostosis, Micrognathia, Brachydactyly, Sho... OMIM:614078
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Slender long bones with narrow diaphyses, Cleft palate, Depressed na... ORPHA:536471
Ciliary Dyskinesia, Primary, 30
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Nasal congestion, Bronchiectasis, Nasal... OMIM:616037
Chromosome 1P36 Deletion Syndrome, Proximal
High palate, Cleft palate, Ventricular septal defect, Midface retrusion, Parietal bossing, Microg... OMIM:619343
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia, Arachnodactyly, Emphysema, Hip dislocation, Abnormal heart morph... OMIM:614100
Oculocerebrocutaneous Syndrome
Orbital encephalocele, Cleft palate, Cleft ala nasi, Congenital hip dislocation, Anophthalmia, Hy... OMIM:164180
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
High palate, Pectus excavatum, Macrocephaly, Triangular mouth, Craniosynostosis, Overfolded helix... OMIM:617506
Ciliary Dyskinesia, Primary, 2
Sinusitis, Situs inversus totalis, Dextrocardia, Bronchiectasis, Hearing impairment, Nasal polypo... OMIM:606763
Cousin Syndrome
Hydrocephalus, Cleft palate, Microtia, first degree, Microphthalmia, Absent proximal finger flexi... OMIM:260660
Fontaine Progeroid Syndrome
Reduced subcutaneous adipose tissue, Absent nipple, Hydrocephalus, Craniosynostosis, Depressed na... OMIM:612289
Meier-Gorlin Syndrome 7
High palate, Cleft palate, Craniosynostosis, Ventricular septal defect, Sagittal craniosynostosis... OMIM:617063
Tricuspid Atresia
Tricuspid atresia, Atrial septal defect, Coarctation of aorta, Pulmonary artery atresia, Ventricu... ORPHA:1209
Autosomal Recessive Robinow Syndrome
Wide mouth, Pectus excavatum, Macrocephaly, Depressed nasal bridge, Abnormality of the dentition,... ORPHA:1507
Arthrogryposis Multiplex Congenita-Whistling Face Syndrome
Narrow mouth, Adducted thumb, Thin vermilion border, Micrognathia, Low-set, posteriorly rotated e... ORPHA:1150
Iniencephaly
Myelomeningocele, Anal atresia, Narrow mouth, Hydrocephalus, Duodenal atresia, Congenital diaphra... ORPHA:63259
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Hydrocephalus, Cleft palate, Short philtrum, Ventricular septal defect, Broad skull, Proptosis, I... ORPHA:163979
Suleiman-El-Hattab Syndrome
High palate, Wide mouth, Overfolded helix, Ventricular septal defect, Thick lower lip vermilion, ... OMIM:618950
Syndromic Diarrhea
Gastritis, Hepatoblastoma, Hepatomegaly, Ventricular septal defect, Abnormal heart morphology, Pe... ORPHA:84064
Craniofacioskeletal Syndrome
Cleft palate, Short philtrum, Barrel-shaped chest, Ventricular septal defect, Clinodactyly of the... OMIM:300712
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Double outlet right ventricle, Broad metacarpals, Bicuspid aortic valve, Atrial septal defect, No... ORPHA:371428
Raine Syndrome
High palate, Wide mouth, Abnormal pinna morphology, Hydrocephalus, Pectus excavatum, Cleft palate... OMIM:259775
Cerebrocostomandibular Syndrome
Myelomeningocele, Conductive hearing impairment, Posterior rib gap, Clinodactyly of the 5th finge... ORPHA:1393
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom
Macrocephaly, Hypoplasia of the corpus callosum, Polymicrogyria, Ventricular septal defect, Umbil... ORPHA:500159
Ellis Van Creveld Syndrome
Atrioventricular canal defect, Abnormality of the dentition, Delayed eruption of teeth, Microdont... ORPHA:289
Microcephaly-Cardiac Defect-Lung Malsegmentation Syndrome
Short distal phalanx of finger, High, narrow palate, Cleft palate, Micrognathia, Microcephaly, Ab... ORPHA:2516
Congenital Disorder Of Glycosylation, Type Iie
Abnormal pinna morphology, Hepatomegaly, Hypoplasia of the corpus callosum, Short nose, Jaundice,... OMIM:608779
Distal Trisomy 14Q
Abnormal lung lobation, Patent ductus arteriosus, Hearing impairment, Abnormal aortic morphology,... ORPHA:1705
Bardet-Biedl Syndrome 7
Narrow mouth, Deeply set eye, 2-3 toe syndactyly, Malar flattening, Postaxial polydactyly, Depres... OMIM:615984
Anophthalmia Plus Syndrome
Cleft palate, Abnormal nasal morphology, Anophthalmia, Low-set, posteriorly rotated ears, Deviati... ORPHA:1104
Ververi-Brady Syndrome
High palate, Wide mouth, Bulbous nose, Metaphyseal irregularity, Hypertelorism, Clinodactyly of t... OMIM:617982
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
High palate, Wide mouth, Bulbous nose, Depressed nasal bridge, Ventricular septal defect, Short n... ORPHA:369891
Skin Creases, Congenital Symmetric Circumferential, 2
Narrow mouth, Pectus excavatum, Hypertelorism, Cryptorchidism, Cleft palate, Microtia, Depressed ... OMIM:616734
Hypertelorism And Other Facial Dysmorphism, Brachydactyly, Genital Abnormalities, Mental Retardation, And Recurrent Inflammatory Episodes
Wide mouth, Abnormal pinna morphology, Pectus excavatum, Cryptorchidism, Overfolded helix, Small ... OMIM:614684
Microphthalmia, Isolated, With Coloboma 5
Holoprosencephaly, Anophthalmia, Oral cleft, Iris coloboma, Bilateral microphthalmos, Microphthal... OMIM:611638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Myocardial fibrosis, Hydrocephalus, Atrial septal defect, Flexion contracture, Holoprosencephaly,... OMIM:253800
Myopathy, Congenital, With Tremor
High palate, Narrow mouth, Flexion contracture, EMG: myopathic abnormalities, Scapular winging, M... OMIM:618524
Ciliary Dyskinesia, Primary, 17
Situs inversus totalis, Dextrocardia, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Recurr... OMIM:614679
Arboleda-Tham Syndrome
Wide mouth, Pectus excavatum, Cleft palate, Craniosynostosis, Broad nasal tip, Short philtrum, Un... OMIM:616268
Proteus Syndrome
Lipoma, Lymphangioma, Macrocephaly, Calvarial hyperostosis, Dolichocephaly, Depressed nasal bridg... OMIM:176920
Simpson-Golabi-Behmel Syndrome, Type 2
High palate, Wide mouth, Macrocephaly, Cleft palate, Congenital hip dislocation, Tapered finger, ... OMIM:300209
Autosomal Recessive Centronuclear Myopathy
Facial diplegia, Hip contracture, Protruding ear, High palate, Narrow mouth, Retrognathia, Left v... ORPHA:169186
Zttk Syndrome
High palate, Macrocephaly, Craniosynostosis, Depressed nasal bridge, Abnormality of the dentition... OMIM:617140
Wiedemann-Rautenstrauch Syndrome
Reduced subcutaneous adipose tissue, Hydrocephalus, Macrocephaly, Depressed nasal bridge, Delayed... OMIM:264090
Bardet-Biedl Syndrome 17
Mesoaxial hand polydactyly, Hyposmia, Short fourth metatarsal, Brachydactyly, Polydactyly, Situs ... OMIM:615994
Aicardi-Goutières Syndrome
Multiple joint contractures, Neonatal alloimmune thrombocytopenia, Cerebral calcification, Hypopl... ORPHA:51
Tetrasomy 9P
High palate, Abnormal mitral valve morphology, Abnormal cardiac septum morphology, Bulbous nose, ... ORPHA:3310
Ciliary Dyskinesia, Primary, 22
Chronic bronchitis, Situs inversus totalis, Dextrocardia, Recurrent sinusitis, Bronchiectasis, Rh... OMIM:615444
8P23.1 Duplication Syndrome
Adrenal insufficiency, Deeply set eye, Hypertelorism, Pulmonic stenosis, Long philtrum, Tetralogy... ORPHA:251076
Baller-Gerold Syndrome
High palate, Abnormal cardiac septum morphology, Cleft palate, Brachyturricephaly, Short nose, Pr... ORPHA:1225
Ctcf-Related Neurodevelopmental Disorder
Macrodontia of permanent maxillary central incisor, Cleft palate, Craniosynostosis, Prominent fin... ORPHA:363611
Muscle-Eye-Brain Disease
Hydrocephalus, Holoprosencephaly, Myopathy, Meningocele ORPHA:588
Subaortic Stenosis--Short Stature Syndrome
Pectus excavatum, Membranous subvalvular aortic stenosis, Barrel-shaped chest, Broad finger, Shor... OMIM:271960
Heart Defects-Limb Shortening Syndrome
Abnormal mitral valve morphology, Atrial septal defect, Ventricular septal defect, Abnormal rib m... ORPHA:1354
Osteogenesis Imperfecta, Type Xii
High palate, Narrow mouth, Malar flattening, Depressed nasal bridge, Micrognathia, Brachyturricep... OMIM:613849
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Wide mouth, Abnormal pinna morphology, Narrow mouth, Short philtrum, Microcephaly, Long philtrum,... OMIM:617333
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Thick corpus callosum, Wide mouth, Macrocephaly, Short philtrum, Ventricular septal defect, Open ... OMIM:300967
Vissers-Bodmer Syndrome
Short stature, Intrauterine growth retardation, Holoprosencephaly OMIM:619033
Arthrogryposis, Distal, Type 2A
High palate, Flexion contracture of finger, Pursed lips, Short nose, Rocker bottom foot, Mandibul... OMIM:193700
Cat Eye Syndrome
Tricuspid atresia, Cleft palate, Biliary atresia, Ventricular septal defect, Umbilical hernia, Mi... OMIM:115470
19P13.13 Microdeletion Syndrome
High palate, Pectus excavatum, Macrocephaly, Depressed nasal bridge, Short nose, Sandal gap, Deep... ORPHA:357001
Musculocontractural Ehlers-Danlos Syndrome
High palate, Slender finger, Cleft palate, Craniosynostosis, Malrotation of small bowel, Tapered ... ORPHA:2953
Digeorge Syndrome
High palate, Cholelithiasis, Hydrocele testis, Cleft palate, Ovarian cyst, Short philtrum, Thromb... OMIM:188400
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies
High palate, Abnormal pinna morphology, Down-sloping shoulders, Hypoplasia of the corpus callosum... OMIM:617452
Edinburgh Malformation Syndrome
Aplasia/Hypoplasia affecting the eye, Narrow mouth, Hydrocephalus, Slender finger, Thin vermilion... ORPHA:1895
Congenital Rubella Syndrome
Sensorineural hearing impairment, Atrial septal defect, Hepatomegaly, Splenomegaly, Microcephaly,... ORPHA:290
Noonan Syndrome 11
Bulbous nose, Pectus excavatum, Atrial septal defect, Hypertelorism, Relative macrocephaly, Pulmo... OMIM:618499
Shashi-Pena Syndrome
Macrocephaly, Atrial septal defect, Hypertelorism, Retrognathia, Broad nasal tip, Proptosis, Low-... OMIM:617190
Chromosome 18Q Deletion Syndrome
Cleft palate, Depressed nasal bridge, Short philtrum, Ventricular septal defect, Abnormal cerebra... OMIM:601808
Coffin-Siris Syndrome 2
High palate, Wide mouth, Abnormal pinna morphology, Cleft palate, Depressed nasal bridge, Short p... OMIM:614607
Acromicric Dysplasia
Bulbous nose, Narrow mouth, Fifth metacarpal with ulnar notch, Short metacarpal, Cone-shaped epip... OMIM:102370
Kniest-Like Dysplasia, Lethal
Metaphyseal irregularity, Abnormal pinna morphology, Narrow mouth, Atrial septal defect, Hypertel... OMIM:245190
Serkal Syndrome
Congenital diaphragmatic hernia, Pulmonic stenosis, Malrotation of small bowel, Abnormality of th... ORPHA:139466
Clark-Baraitser Syndrome
Large earlobe, High palate, Wide mouth, Hypertelorism, Low hanging columella, Dolichocephaly, Dep... OMIM:617752
Dyssegmental Dysplasia, Silverman-Handmaker Type
Narrow mouth, Calvarial skull defect, Malar flattening, Micrognathia, Pulmonary hypoplasia, Bowin... OMIM:224410
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Leukoencephalopathy, Narrow mouth, Narrow palate, Deeply set eye, Overlapping toe, EMG: myopathic... ORPHA:457365
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Hypoplasia of the maxilla, Anteriorly placed anus, Abnormal he... ORPHA:314679
Glass Syndrome
High palate, Bulbous nose, Narrow mouth, Inguinal hernia, Cleft palate, Malar flattening, Long no... OMIM:612313
Ectrodactyly Of Lower Limbs, Congenital Heart Defect, And Micrognathia
Split foot, Micrognathia, Hypoplastic right heart, Tetralogy of Fallot, Ventricular septal defect OMIM:601348
Nablus Mask-Like Facial Syndrome
High palate, Craniosynostosis, Depressed nasal bridge, Abnormality of the dentition, Tapered fing... OMIM:608156
Xq28 (MECP2) duplication
Narrow mouth, Gastroesophageal reflux, Malar flattening, Depressed nasal bridge, Microcephaly, Hy...