Gene Summary

Name:
Rpgrip1-like
Synonyms:
1700047E16Rik,  Nphp8,  Ftm,  fantom

IMPC Data Collections

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.

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Rpgrip1ltm1a(EUCOMM)Wtsi HOM   Early adult 0.00

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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.

X-ray

XRay Images Skull Lateral Orientation

12 Images

Histopathology

Images

3 Images

X-ray

XRay Images Whole Body Dorso Ventral

14 Images

X-ray

XRay Images Whole Body Lateral Orientation

13 Images

X-ray

XRay Images Skull Dorso Ventral Orientation

11 Images

X-ray

XRay Images Forepaw

12 Images

Legacy Phenotype Associated Images

View all 247 images

Human diseases caused by Rpgrip1l 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 Rpgrip1l by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Diabetic Embryopathy
Hearing impairment, Micrognathia, Cryptorchidism, Abnormality of the neck, Ventricular septal def... ORPHA:1926
Carpenter Syndrome 1
Low-set ears, Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular foss... OMIM:201000
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal vertebral morphology, Low-set ears, Sparse scalp hair, Hearing im... ORPHA:536471
Meckel Syndrome, Type 1
Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Natal tooth, Chiari malformati... OMIM:249000
Holoprosencephaly
Chorioretinal coloboma, Abnormality of the spleen, Encephalocele, Cryptorchidism, Ventricular sep... ORPHA:2162
Mosaic Trisomy 9
Low-set ears, Limitation of joint mobility, Elbow dislocation, Endocardial fibroelastosis, Microg... ORPHA:99776
Heterotaxy, Visceral, 1, X-Linked
Low-set ears, Posteriorly placed anus, Ventricular septal defect, Bilateral trilobed lung, Atrial... OMIM:306955
Trisomy 13
Low-set ears, Abnormal helix morphology, Chiari malformation, Abnormality of the ureter, Cryptorc... ORPHA:3378
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Hearing impairment, Thoracic hemivertebrae, Overlapping toe, Micrognathia, Ventricul... ORPHA:508498
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Low-set ears, Congenital shortened small intestine, Chiari malformation, Dilatation of the renal ... OMIM:265380
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Congenital diaphragmatic hernia, Ventricular septal defect, Atrial septal defect, Patent ductus a... ORPHA:2255
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Abnormal helix morphology, Congenital diaphragmatic hernia, Bilateral single transverse palmar cr... ORPHA:1120
Heart Defects, Congenital, And Other Congenital Anomalies
Total absence of the pericardium, Absent gallbladder, Congenital diaphragmatic hernia, Ventricula... OMIM:600001
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Low-set ears, Overlapping toe, Overlapping fingers, Cryptorchidism, Ventricular septal defect, At... OMIM:618316
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Dilatation of the renal pelvis, Finger syndactyly, Carpal synostosis,... OMIM:274000
Focal Dermal Hypoplasia
Low-set ears, Toe syndactyly, Chiari malformation, Midclavicular aplasia, Chorioretinal coloboma,... OMIM:305600
Rubinstein-Taybi Syndrome 1
Low-set ears, Broad thumb, Micrognathia, Ventricular septal defect, Agenesis of corpus callosum, ... OMIM:180849
Alg9-Cdg
Low-set ears, Hypoplasia of the musculature, Large fleshy ears, Delayed cranial suture closure, M... ORPHA:79328
Holt-Oram Syndrome
Broad thumb, Finger syndactyly, Ventricular septal defect, Radioulnar synostosis, Abnormal metaca... ORPHA:392
Cerebrooculofacioskeletal Syndrome 3
Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasia, Talipes equin... OMIM:616570
Microphthalmia, Syndromic 12
Hypoplastic left atrium, Retrognathia, Micrognathia, Cryptorchidism, Anophthalmia, Ventricular se... OMIM:615524
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Overlapping fingers, Cryptorchidism... OMIM:301056
Mmep Syndrome
Cryptorchidism, Ventricular septal defect, Median cleft upper lip, Microcephaly, Orofacial cleft,... ORPHA:3434
Orofaciodigital Syndrome I
Low-set ears, Carious teeth, Dry hair, Hearing impairment, Clinodactyly, Ankyloglossia, Ovarian c... OMIM:311200
Charge Syndrome
Aplasia/Hypoplasia of the earlobes, Hearing impairment, Chorioretinal coloboma, Abnormal tibia mo... ORPHA:138
Sweeney-Cox Syndrome
Low-set ears, Crumpled ear, Velopharyngeal insufficiency, Hearing impairment, Micrognathia, Narro... OMIM:617746
Stankiewicz-Isidor Syndrome
Low-set ears, Absent thumb, Retrognathia, Hearing impairment, Short thumb, Prominent nose, Microg... OMIM:617516
Congenitally Corrected Transposition Of The Great Arteries
Atrial situs ambiguous, Ventricular septal defect, Discordant atrioventricular connection, Arrhyt... ORPHA:216694
Autosomal Recessive Spondylocostal Dysostosis
Finger syndactyly, Abnormality of the ureter, Cryptorchidism, Congenital diaphragmatic hernia, Sh... ORPHA:2311
Pallister-Hall Syndrome
Toe syndactyly, Natal tooth, Atresia of the external auditory canal, Postaxial foot polydactyly, ... OMIM:146510
Koolen-De Vries Syndrome Due To A Point Mutation
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Cryptorchidism, Open mouth, Ventric... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hearing impairment, Recurrent otitis media, Pear-shaped nose, Cryptorchidism, Open mouth, Ventric... ORPHA:363958
Primary Ciliary Dyskinesia
Hearing impairment, Atrial situs ambiguous, Recurrent otitis media, Pulmonary situs ambiguus, Rod... ORPHA:244
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome
Unilateral renal agenesis, Retrognathia, Preaxial polydactyly, Overlapping fingers, Overlapping t... OMIM:618142
22Q11.2 Duplication Syndrome
Hypoplastic left heart, Depressed nasal ridge, Interrupted aortic arch, Aplasia/Hypoplasia of the... ORPHA:1727
Chromosome 18Q Deletion Syndrome
Aortic valve stenosis, Toe syndactyly, Hearing impairment, Atresia of the external auditory canal... OMIM:601808
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal coronary artery morphology, Biventricular hypertrophy, Abnormal mitral valve morphology,... ORPHA:860
8P23.1 Microdeletion Syndrome
Low-set ears, Broad thumb, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Short n... ORPHA:251071
Sandestig-Stefanova Syndrome
Ventriculomegaly, Clinodactyly, Retrognathia, Muscular ventricular septal defect, Bilateral singl... OMIM:618804
Pseudotrisomy 13 Syndrome
Low-set ears, Postaxial foot polydactyly, Encephalocele, Cryptorchidism, Ventricular septal defec... OMIM:264480
Frontonasal Dysplasia 1
Cranium bifidum occultum, Joint contracture of the hand, Hypoplasia of the maxilla, Clinodactyly,... OMIM:136760
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Encephalocele, Hypoplasia of the corpus callosum, Ventricular sept... OMIM:611134
Biliary, Renal, Neurologic, And Skeletal Syndrome
Low-set ears, Elevated gamma-glutamyltransferase level, Unbalanced atrioventricular canal defect,... OMIM:619534
Chops Syndrome
Hearing impairment, Aspiration pneumonia, Cryptorchidism, Ventricular septal defect, Curly hair, ... OMIM:616368
Peters Plus Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Cryptorchidism, Renal hypoplasia/apla... ORPHA:709
Ventriculomegaly And Arthrogryposis
Hand clenching, Ventriculomegaly, Micrognathia, Agenesis of corpus callosum, Cerebellar hypoplasi... OMIM:619501
Congenital Absence Of Upper Arm And Forearm With Hand Present
Abnormality of the vertebral column, Renal agenesis, Stillbirth, Abnormal heart morphology, Abnor... ORPHA:294975
Smith-Lemli-Opitz Syndrome
Low-set ears, Small scrotum, Postaxial foot polydactyly, Hearing impairment, Recurrent otitis med... OMIM:270400
Skraban-Deardorff Syndrome
Depressed nasal bridge, Sparse lateral eyebrow, Hyperplasia of the maxilla, Widely spaced teeth, ... OMIM:617616
Congenital Heart Defects, Multiple Types, 8, With Or Without Heterotaxy
Low-set ears, Unbalanced atrioventricular canal defect, Toe syndactyly, Bilateral single transver... OMIM:619657
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Low-set ears, Arrhythmia, Everted lower lip vermilion, High palate, Anterior open-bite malocclusi... OMIM:617877
Charge Syndrome
Low-set ears, Lymphopenia, Unilateral microphthalmos, Micrognathia, Cryptorchidism, Anophthalmia,... OMIM:214800
Joubert Syndrome 18
Occipital encephalocele, Retrognathia, Horseshoe kidney, Trident pelvis, Agenesis of corpus callo... OMIM:614815
Fryns Syndrome
Low-set ears, Thin ribs, Abnormal helix morphology, Joint contracture of the hand, Cryptorchidism... OMIM:229850
Genitopalatocardiac Syndrome
Low-set ears, Cleft upper lip, Micrognathia, Right aortic arch, Ventricular septal defect, Renal ... OMIM:231060
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Abnormality of the dentition, Unilateral renal agenesis, Carious teeth, Dental malocclusion, Velo... ORPHA:363444
Heterotaxy, Visceral, 8, Autosomal
Hypoplastic left heart, Aortopulmonary collateral arteries, Unbalanced atrioventricular canal def... OMIM:617205
Right Atrial Isomerism
Aortopulmonary collateral arteries, Common atrium, Total anomalous pulmonary venous return, Pulmo... OMIM:208530
Ciliary Dyskinesia, Primary, 53
Cerebellar vermis hypoplasia, Recurrent pneumonia, Abdominal situs inversus, Polysplenia, Ductus ... OMIM:620642
Simpson-Golabi-Behmel Syndrome, Type 1
Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Cryptorc... OMIM:312870
Smith-Lemli-Opitz Syndrome
Clitoral hypertrophy, Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly... ORPHA:818
Hardikar Syndrome
Portal inflammation, Cholestasis, Hypersplenism, Hepatosplenomegaly, Cleft soft palate, Ventricul... OMIM:301068
Partial Atrioventricular Septal Defect
Aortic valve stenosis, Mitral regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, Hyp... ORPHA:1330
Sotos Syndrome
Low-set ears, Long metacarpals, Genu valgum, Cryptorchidism, Ventricular septal defect, Long phal... OMIM:117550
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Low-set ears, Broad thumb, Ventricular septal defect, Achalasia, Atrial septal defect, Short 5th ... OMIM:600987
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Flared nostrils, Hearing impairment, Clinodactyly, Overlapping toe, Hypospadias, Patent ductus ar... ORPHA:487796
Alg12-Cdg
Abnormal peripheral nervous system morphology, Biventricular hypertrophy, Overlapping fingers, Mi... ORPHA:79324
Intellectual Developmental Disorder, Autosomal Dominant 21
Low-set ears, Long philtrum, Long eyelashes, Narrow mouth, Cryptorchidism, Single transverse palm... OMIM:615502
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Low-set ears, Elevated circulating luteinizing hormone level, Small hand, Premature graying of ha... OMIM:300845
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Low-set ears, Recurrent otitis media, Hepatosplenomegaly, Cleft soft palate, Micrognathia, Hepati... OMIM:619503
Cardioacrofacial Dysplasia 2
Postaxial foot polydactyly, Genu valgum, Prominent nasal tip, Left superior vena cava draining to... OMIM:619143
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Broad 2nd toe, Open mouth, E... OMIM:280000
Recombinant Chromosome 8 Syndrome
Low-set ears, Joint contracture of the hand, Hearing impairment, Micrognathia, Cryptorchidism, Ve... OMIM:179613
Hydrolethalus
Bifid uvula, Gingival cleft, Unilateral cleft lip, Micromelia, Retrognathia, Micrognathia, Crypto... ORPHA:2189
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Multicystic kidney dysplasia, Long hallux, Mitral valve prolapse, Ventricular septal defect, Sens... ORPHA:500095
Pallister-Hall-Like Syndrome
Microglossia, Postaxial foot polydactyly, Toe syndactyly, Micromelia, Occipital encephalocele, An... OMIM:241800
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Wide nasal bridge, Cerebellar vermis hypoplasia, Sparse eyebrow, Carious teeth, Gastroesophageal ... OMIM:620070
Aminopterin/Methotrexate Embryofetopathy
Finger syndactyly, Micrognathia, Encephalocele, Ventricular septal defect, Aplasia/Hypoplasia of ... ORPHA:1908
Heterotaxy, Visceral, 4, Autosomal
Total anomalous pulmonary venous return, Pulmonary artery atresia, Bilateral superior vena cava, ... OMIM:613751
Fryns Syndrome
Multicystic kidney dysplasia, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Agen... ORPHA:2059
Meacham Syndrome
Ventricular septal defect, Neonatal death, Bicuspid aortic valve, Male pseudohermaphroditism, Atr... OMIM:608978
Oculocerebrocutaneous Syndrome
Congenital hip dislocation, Cryptorchidism, Anophthalmia, Agenesis of corpus callosum, Hypoplasia... OMIM:164180
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Low-set ears, Delayed epiphyseal ossification, Enlarged metaphyses, Lateral ventricle dilatation,... OMIM:210710
Heterotaxy, Visceral, 7, Autosomal
Interrupted aortic arch, Total anomalous pulmonary venous return, Pulmonary artery hypoplasia, Pu... OMIM:616749
Ogden Syndrome
Flared nostrils, Low-set ears, Everted upper lip vermilion, Delayed cranial suture closure, Thick... OMIM:300855
Simpson-Golabi-Behmel Syndrome
Abnormal helix morphology, Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Broad... ORPHA:373
Fetal Trimethadione Syndrome
Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Tetralogy of Fallot, Micrognathi... ORPHA:1913
Chromosome 9P Deletion Syndrome
Low-set ears, Dermatoglyphic variants, Micrognathia, Narrow mouth, Ventricular septal defect, Sho... OMIM:158170
Trisomy 1Q
Multicystic kidney dysplasia, Toe syndactyly, Microretrognathia, Ventriculomegaly, Preaxial hand ... ORPHA:261344
Meckel Syndrome, Type 8
Occipital encephalocele, Cleft upper lip, Encephalocele, Anophthalmia, Polydactyly, Talipes equin... OMIM:613885
16P13.11 Microduplication Syndrome
Tetralogy of Fallot, Ventricular septal defect, Joint hypermobility, Arachnodactyly, Coarctation ... ORPHA:261243
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum
Hand clenching, Parietal cortical atrophy, Micrognathia, Narrow mouth, Cryptorchidism, Death in c... OMIM:618766
Gombo Syndrome
Radial deviation of finger, Clinodactyly, Abnormal heart morphology, Microcephaly, Delayed pubert... OMIM:233270
Desmosterolosis
Low-set ears, Abnormal earlobe morphology, Micrognathia, Narrow mouth, Agenesis of corpus callosu... ORPHA:35107
Short-Rib Thoracic Dysplasia 12
Low-set ears, Hypoplastic scapulae, Natal tooth, Ventricular septal defect, Neonatal death, Short... OMIM:269860
Ciliary Dyskinesia, Primary, 20
Aortic valve stenosis, Recurrent pneumonia, Atelectasis, Recurrent otitis media, Situs inversus t... OMIM:615067
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Aortic valve stenosis, Recurrent otitis media, Enlarged cerebellum, Ventricular septal defect, Ag... ORPHA:261552
Koolen-De Vries Syndrome
Cryptorchidism, Arachnodactyly, Bicuspid aortic valve, Everted lower lip vermilion, Hypospadias, ... ORPHA:96169
Ritscher-Schinzel Syndrome 1
Aortic valve stenosis, Low-set ears, Micrognathia, Ventricular septal defect, Low posterior hairl... OMIM:220210
Microphthalmia, Syndromic 9
Low-set ears, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal d... OMIM:601186
Verheij Syndrome
Branchial cyst, Clinodactyly, Ventricular septal defect, Short neck, Hip dislocation, Short nose,... OMIM:615583
Bowen-Conradi Syndrome
Ventriculomegaly, Camptodactyly of finger, Abnormal lung lobation, Micrognathia, Cryptorchidism, ... ORPHA:1270
Scimitar Syndrome
Abnormal hemidiaphragm morphology, Anomalous origin of left coronary artery from the pulmonary ar... ORPHA:185
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Lateral ventricle dilatat... ORPHA:261537
Meckel Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Micrognathia, Encephalocele, Congenital... ORPHA:564
Chudley-Mccullough Syndrome
Ventriculomegaly, Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dyspla... OMIM:604213
Marden-Walker Syndrome
Joint contracture of the hand, Inferior cerebellar vermis hypoplasia, Micrognathia, Narrow mouth,... OMIM:248700
Filippi Syndrome
Serrated incisors, Cryptorchidism, Ventricular septal defect, Sparse hair, 2-4 toe syndactyly, Hy... OMIM:272440
Pallister-Hall Syndrome
Small scrotum, Toe syndactyly, Natal tooth, Atresia of the external auditory canal, Auricular tag... ORPHA:672
Heterotaxy, Visceral, 2, Autosomal
Bilateral superior vena cava, Abdominal situs inversus, Left atrial isomerism, Atrioventricular c... OMIM:605376
Triploidy
Finger syndactyly, Micrognathia, Narrow mouth, Cryptorchidism, Decreased skull ossification, Shor... ORPHA:3376
Noonan Syndrome 4
Low-set ears, Cryptorchidism, Ventricular septal defect, Short neck, Atrial septal defect, Curly ... OMIM:610733
Thauvin-Robinet-Faivre Syndrome
Long hallux, Mitral valve prolapse, Ventricular septal defect, Sensorineural hearing impairment, ... OMIM:617107
Cat Eye Syndrome
Low-set ears, Hearing impairment, Chorioretinal coloboma, Micrognathia, Ventricular septal defect... OMIM:115470
Helsmoortel-Van Der Aa Syndrome
Low-set ears, Small hand, Carious teeth, Lateral ventricle dilatation, Ankyloglossia, Genu valgum... OMIM:615873
Renal-Hepatic-Pancreatic Dysplasia 1
Aortic valve stenosis, Cholestasis, Neonatal death, Cirrhosis, Atrial septal defect, Hepatomegaly... OMIM:208540
Lowry-Maclean Syndrome
Low-set ears, Micrognathia, Congenital diaphragmatic hernia, Delayed eruption of primary teeth, M... ORPHA:2409
Down Syndrome
Shallow acetabular fossae, Clinodactyly, Hypoplastic iliac wing, Protruding tongue, Acute megakar... OMIM:190685
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Delayed eruption of teeth, Tooth agenesis, Camptodactyly of finger, Anterio... ORPHA:2863
Mowat-Wilson Syndrome
Aortic valve stenosis, Tooth malposition, Multicystic kidney dysplasia, Recurrent otitis media, E... ORPHA:2152
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects
Low-set ears, Depressed nasal bridge, Clinodactyly, Bulbous nose, Open mouth, Cryptorchidism, Pat... OMIM:616789
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Toe syndactyly, Hearing impairment, Broad thumb, Hypoplastic iliac win... OMIM:609945
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Peripheral retinal avascularization, Hypoplastic scapulae, Abnormality of the costochondral junct... ORPHA:96334
Tricuspid Atresia
Hypoplasia of right ventricle, Patent foramen ovale, Ventricular septal defect, Persistent left s... ORPHA:1209
Thanatophoric Dysplasia Type 2
Platyspondyly, Depressed nasal bridge, Narrow chest, Kyphosis, Hearing impairment, Limitation of ... ORPHA:93274
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Low-set ears, Hearing impairment, Cryptorchidism, Congenital diaphragmatic hernia, Decreased numb... OMIM:617641
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Ventricular septal defect, Bicuspid aortic valve, Overriding aorta, Talipes equinovarus, Atrial s... ORPHA:477817
Feingold Syndrome 1
Low-set ears, Hearing impairment, Micrognathia, Ventricular septal defect, Everted lower lip verm... OMIM:164280
Double Outlet Left Ventricle
Cryptorchidism, Abnormal coronary artery course, Ventricular septal defect, Cardiomegaly, Bicuspi... ORPHA:3427
Restrictive Dermopathy
Low-set ears, Thin ribs, Natal tooth, Increased anterioposterior diameter of thorax, Large placen... ORPHA:1662
Peters-Plus Syndrome
Low-set ears, Facial hypertrichosis, Square pelvis bone, Hearing impairment, Micrognathia, Short ... OMIM:261540
Fg Syndrome Type 1
Finger syndactyly, Clinodactyly of the 2nd finger, Micrognathia, Open mouth, Cryptorchidism, Mitr... ORPHA:93932
Variant Abeta2M Amyloidosis
Chronic kidney disease, Renal amyloidosis, Arthralgia of the hip, Abnormal vascular morphology, A... ORPHA:314652
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Low-set ears, Abnormal ilium morphology, Large fleshy ears, Micrognathia, Open mouth, Congenital ... OMIM:614080
Chromosome 1P36 Deletion Syndrome, Proximal
Low-set ears, Clinodactyly, Biventricular hypertrophy, Micrognathia, Ventricular septal defect, B... OMIM:619343
Congenital Disorder Of Glycosylation, Type Ih
Low-set ears, Cholestasis, Decreased circulating T4 concentration, Cryptorchidism, Neonatal death... OMIM:608104
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Abnormal hand morphology, Mitral valve prolapse, Polycystic ovaries, Ventricular septal defect, B... ORPHA:371428
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Recurrent otitis media, Micrognathia, Cryptorchidism, Overriding aorta, Atrial septal defect, Hig... ORPHA:3304
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly
Chronic kidney disease, Hepatic fibrosis, Hepatic failure, Nephronophthisis, Ventriculomegaly, Ce... OMIM:615630
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Low-set ears, Lipid accumulation in hepatocytes, Agenesis of corpus callosum, Arrhythmia, Elevate... OMIM:608836
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Low-set ears, Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Cholestasis, H... OMIM:266920
Ciliary Dyskinesia, Primary, 40
Unbalanced atrioventricular canal defect, Atrioventricular canal defect, Azoospermia, Congenitall... OMIM:618300
Heterotaxy, Visceral, 5, Autosomal
Ventricular septal defect, Bilateral trilobed lung, Atrial septal defect, Dextrocardia, Single ve... OMIM:270100
Greig Cephalopolysyndactyly Syndrome
Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Cryptorchidism, Hypoplasi... OMIM:175700
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Lissencephaly, Ventriculomegaly, Hypoplasia of the pons, Hypoplasia of the brainstem, Type II lis... OMIM:613153
Warburg Micro Syndrome 1
Enlarged sylvian cistern, Cerebellar vermis hypoplasia, Cerebral atrophy, Overlapping toe, Microg... OMIM:600118
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Low-set ears, Hearing impairment, Recurrent otitis media, Overlapping toe, Overlapping fingers, O... OMIM:618494
Endocrine-Cerebroosteodysplasia
Natal tooth, Focal polymicrogyria, Thick upper lip vermilion, Fibular bowing, Micrognathia, Crypt... OMIM:612651
Hoxha-Aliu Syndrome
Abnormal vertebral morphology, Low-set ears, Overlapping toe, Absent fifth metatarsal, Atrial sep... OMIM:620662
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Low-set ears, Joint contracture of the hand, Small hand, Hypoplastic iliac wing, Cutaneous finger... OMIM:235510
Renal-Hepatic-Pancreatic Dysplasia 2
Malformation of the hepatic ductal plate, Hepatic fibrosis, Aortic valve stenosis, Abnormal lung ... OMIM:615415
Congenital Alveolar Capillary Dysplasia
Aortic valve stenosis, Abnormal vertebral morphology, Absent gallbladder, Ventricular septal defe... ORPHA:210122
Emanuel Syndrome
Aortic valve stenosis, Tooth malposition, Low-set ears, Chiari malformation, Hearing impairment, ... ORPHA:96170
Khan-Khan-Katsanis Syndrome
Clinodactyly, Lymphopenia, Micrognathia, Sensorineural hearing impairment, Neutropenia, Dysphagia... OMIM:618460
Mosaic Variegated Aneuploidy Syndrome
Multicystic kidney dysplasia, Hearing impairment, Micrognathia, Stomach cancer, Atrial septal def... ORPHA:1052
Heterotaxy, Visceral, 6, Autosomal
Hypoplastic left heart, Total anomalous pulmonary venous return, Unbalanced atrioventricular cana... OMIM:614779
Lateral Meningocele Syndrome
Low-set ears, Decreased muscle mass, Micrognathia, Cryptorchidism, Ventricular septal defect, Bic... OMIM:130720
Meacham Syndrome
Aortic valve stenosis, Abnormal vagina morphology, Hydrometrocolpos, Abnormality of the spleen, C... ORPHA:3097
Microphthalmia, Syndromic 2
Aortic valve stenosis, Hand clenching, Cryptorchidism, Mitral valve prolapse, Ventricular septal ... OMIM:300166
Microcephaly 16, Primary, Autosomal Recessive
Micrognathia, Open mouth, Cryptorchidism, Agenesis of corpus callosum, Adducted thumb, Primary mi... OMIM:616681
22Q11.2 Deletion Syndrome
Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Narrow mouth, Cryptorchidism, Vent... ORPHA:567
Recombinant 8 Syndrome
Low-set ears, Small scrotum, Abnormality of the outer ear, Hearing impairment, Abnormal hair morp... ORPHA:96167
Mullegama-Klein-Martinez Syndrome
Low-set ears, Atresia of the external auditory canal, Micrognathia, Congenital diaphragmatic hern... OMIM:301022
Monosomy 18Q
Aortic valve stenosis, Bilateral conductive hearing impairment, Open mouth, Mitral regurgitation,... ORPHA:1600
Distal Monosomy 7Q36
Optic atrophy, Macrotia, Bulbous nose, Micrognathia, Cryptorchidism, Bilateral single transverse ... ORPHA:1636
Cranioectodermal Dysplasia 1
Low-set ears, Chronic kidney disease, Clinodactyly, Anodontia, Bicuspid aortic valve, Broad dista... OMIM:218330
Chromosome 1Q41-Q42 Deletion Syndrome
Low-set ears, Supernumerary nipple, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular ... OMIM:612530
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Low-set ears, Broad thumb, Frontal balding, Overlapping toe, Micrognathia, Sensorineural hearing ... OMIM:612474
Knobloch Syndrome
Depressed nasal bridge, Macular degeneration, Occipital encephalocele, Vitreoretinopathy, Abnorma... ORPHA:1571
Neu-Laxova Syndrome 1
Low-set ears, Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Mic... OMIM:256520
Czeizel-Losonci Syndrome
1-2 finger syndactyly, Clubbing of toes, Ectrodactyly, Myelomeningocele, Ureteral agenesis, Micro... ORPHA:2437
Congenital Disorder Of Glycosylation, Type Iie
Overlapping fingers, Micrognathia, Narrow mouth, Protruding tongue, Hypoplasia of the corpus call... OMIM:608779
Cerebrooculofacioskeletal Syndrome 1
Joint contracture of the hand, Carious teeth, Basal ganglia calcification, Micrognathia, Cryptorc... OMIM:214150
Immunodeficiency 90 With Encephalopathy, Functional Hyposplenia, And Hepatic Dysfunction
Hepatic bridging fibrosis, Portal inflammation, Cerebral atrophy, Death in childhood, Ventricular... OMIM:613759
Snijders Blok-Campeau Syndrome
Ventriculomegaly, Umbilical hernia, Widely spaced teeth, Taurodontia, Perimembranous ventricular ... OMIM:618205
Knobloch Syndrome 1
Occipital encephalocele, Retinal detachment, Duplicated collecting system, Optic disc pallor, Pat... OMIM:267750
Septopreoptic Holoprosencephaly
Precocious puberty, Abnormal vertebral morphology, Abnormal midbrain morphology, Hypoplasia of th... ORPHA:280195
Familial Median Cleft Of The Upper And Lower Lips
Diastema, Cleft upper lip, Abnormal mandible morphology, Irregular dentition, Cleft lower lip, Me... ORPHA:401942
Halperin-Birk Syndrome
Ventriculomegaly, Semilobar holoprosencephaly, Umbilical hernia, Micrognathia, Death in childhood... OMIM:618651
15Q11.2 Microdeletion Syndrome
Total anomalous pulmonary venous return, Abnormal heart morphology, Tetralogy of Fallot, Dilated ... ORPHA:261183
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Natal tooth, Short tibia, Cryptorchidism, Encephalocele, Microphthalmia, Flat acetabular roof, Cl... OMIM:616300
Bohring-Opitz Syndrome
Low-set ears, Supernumerary nipple, Overlapping toe, Micrognathia, Narrow mouth, Delayed peripher... OMIM:605039
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Muscular ventricular septal defect, Single transverse palmar crease, Microcephaly, Adducted thumb... OMIM:620062
Baraitser-Winter Syndrome 1
Aortic valve stenosis, Ventriculomegaly, Retrognathia, Long philtrum, Cleft upper lip, Pachygyria... OMIM:243310
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Lateral ventricle dilatation, Broad 2nd toe, Agenesis of corpus c... ORPHA:1692
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Aortic valve stenosis, Low-set ears, Hearing impairment, Clinodactyly, Long hallux, Overlapping t... OMIM:618164
Chromosome 6Pter-P24 Deletion Syndrome
Low-set ears, Narrow mouth, Frontal upsweep of hair, Ventricular septal defect, Telangiectasia, S... OMIM:612582
3C Syndrome
Aortic valve stenosis, Low-set ears, Finger syndactyly, Chorioretinal coloboma, Micrognathia, Abn... ORPHA:7
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Abnormal vertebral morphology, Neonatal death, Dextrocardia, Absent radius, Anal atresia, Urethra... OMIM:314390
8Q24.3 Microdeletion Syndrome
Ectopic posterior pituitary, Branchial cyst, Ventricular septal defect, Short neck, Short hallux,... ORPHA:508488
Cohen Syndrome
Micrognathia, Open mouth, Genu valgum, Mitral valve prolapse, Narrow palm, Neutropenia, Short met... OMIM:216550
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Encephalocele, Agenesis of corpus callosum, Retinal detachment, Atrial septal defect, Microphthal... OMIM:253800
Ververi-Brady Syndrome
Low-set ears, Metaphyseal irregularity, Broad nasal tip, Cupped ear, Delayed skeletal maturation,... OMIM:617982
Kallmann Syndrome-Heart Disease Syndrome
Anomalous origin of left coronary artery from the pulmonary artery, Short lingual frenulum, Mitra... ORPHA:2326
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Microphthalmia, Hi... OMIM:206920
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Cerebellar atrophy, Hypoplasia of the pons, Cerebral atrophy, Micrognathia, Cerebellar hypoplasia... OMIM:616171
Cystic Echinococcosis
Peritoneal abscess, Pulmonary cyst, Elevated gamma-glutamyltransferase level, Ovarian cyst, Eleva... ORPHA:400
Sotos Syndrome
Abnormal vertebral morphology, Small cell lung carcinoma, Hearing impairment, Cryptorchidism, Hip... ORPHA:821
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Rhizomelia, Abnormal epiphysis morphology, Downturned corners of mouth, Micrognathia, Abnormal me... ORPHA:93267
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Fibular aplasia, Micrognathia, ... ORPHA:90652
Koolen-De Vries Syndrome
Aortic root aneurysm, Pear-shaped nose, Cryptorchidism, Open mouth, Ventricular septal defect, Na... OMIM:610443
Meckel Syndrome, Type 3
Malformation of the hepatic ductal plate, Hepatic fibrosis, Multicystic kidney dysplasia, Postaxi... OMIM:607361
Velocardiofacial Syndrome
Velopharyngeal insufficiency, Retinal vascular tortuosity, Open mouth, Cryptorchidism, Ventricula... OMIM:192430
Orofaciodigital Syndrome Vi
Low-set ears, Toe syndactyly, Clinodactyly, Fibular aplasia, Micrognathia, Agenesis of corpus cal... OMIM:277170
Autosomal Dominant Polycystic Kidney Disease
Chronic kidney disease, Aortic root aneurysm, Abnormal urinary electrolyte concentration, Mitral ... ORPHA:730
Cardiac-Urogenital Syndrome
Biventricular hypertrophy, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal de... OMIM:618280
Basel-Vanagaite-Smirin-Yosef Syndrome
Dilated third ventricle, Finger syndactyly, Clinodactyly, Lateral ventricle dilatation, Male uret... ORPHA:464738
Jacobsen Syndrome
Low-set ears, Chorioretinal coloboma, Micrognathia, Cryptorchidism, Ventricular septal defect, Sh... OMIM:147791
Dpm1-Cdg
Secondary microcephaly, Long hallux, Hepatosplenomegaly, Micrognathia, Hepatic steatosis, Hepatom... ORPHA:79322
Pseudoaminopterin Syndrome
Hypoplasia of the antihelix, Synostosis of carpal bones, Overlapping toe, Micrognathia, Frontal u... ORPHA:221120
Developmental And Epileptic Encephalopathy 66
Macrodontia of permanent maxillary central incisor, Cerebellar vermis hypoplasia, Downturned corn... OMIM:618067
8P Inverted Duplication/Deletion Syndrome
Micrognathia, Cryptorchidism, Agenesis of corpus callosum, Everted lower lip vermilion, Dextrocar... ORPHA:96092
Hydrolethalus Syndrome 2
Ventriculomegaly, Postaxial foot polydactyly, Preaxial foot polydactyly, Micrognathia, Agenesis o... OMIM:614120
Mitochondrial Complex I Deficiency, Nuclear Type 39
Hypertrophic cardiomyopathy, Cryptorchidism, Dysplastic corpus callosum, Cardiomegaly, Perimembra... OMIM:620135
Double Outlet Right Ventricle
Hypoplastic left heart, Depressed nasal bridge, Pulmonary artery atresia, Aplasia/Hypoplasia of t... ORPHA:3426
Distal Deletion 13Q
Optic atrophy, Iris coloboma, Abnormal form of the vertebral bodies, Primary adrenal insufficienc... ORPHA:1590
Cardiospondylocarpofacial Syndrome
Low-set ears, Carpal synostosis, Recurrent otitis media, Mitral regurgitation, Congenital diaphra... OMIM:157800
Cardiac Diverticulum
Aortic valve stenosis, Aplasia/Hypoplasia of the sternum, Mitral valve prolapse, Ventricular sept... ORPHA:1686
Mosaic Trisomy 16
Short forearm, Hearing impairment, Clinodactyly, Large placenta, Ventricular septal defect, Singl... ORPHA:1708
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Hearing impairment, Micrognathia, Cryptorchidism, Congenital diaph... ORPHA:280
Renpenning Syndrome
Narrow mouth, Sensorineural hearing impairment, Sprengel anomaly, Round ear, Anal atresia, Iris c... ORPHA:3242
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Low-set ears, Clinodactyly, Cryptorchidism, Protruding tongue, Ventricular septal defect, Absent ... OMIM:301040
Acrocallosal Syndrome
Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Hearing im... OMIM:200990
Cortical Dysplasia, Complex, With Other Brain Malformations 7
Cerebellar vermis hypoplasia, Polymicrogyria, Hypoplasia of the brainstem, Hypoplasia of the corp... OMIM:610031
Carpenter Syndrome 2
Low-set ears, Carious teeth, Broad thumb, Narrow naris, Supernumerary nipple, Cutaneous finger sy... OMIM:614976
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Arteriovenous malformation, Hearing impairment, Fi... ORPHA:84
Tuberous Sclerosis Complex
Chorioretinal hypopigmentation, Chronic kidney disease, Cardiac rhabdomyoma, Renal angiomyolipoma... ORPHA:805
Meckel Syndrome, Type 2
Encephalocele, Polydactyly, Bowing of the long bones, Renal cyst, Dandy-Walker malformation, Post... OMIM:603194
Cerebellar-Facial-Dental Syndrome
Low-set ears, Inferior cerebellar vermis hypoplasia, Hypoplasia of the pons, Micrognathia, Crypto... ORPHA:444072
Restrictive Dermopathy 1
Low-set ears, Natal tooth, Increased anterioposterior diameter of thorax, Micrognathia, Narrow mo... OMIM:275210
Structural Heart Defects And Renal Anomalies Syndrome
Low-set ears, Generalized edema, Interrupted aortic arch, Webbed neck, Tetralogy of Fallot, Overl... OMIM:617478
Trisomy 18
Chiari malformation, Narrow mouth, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular s... ORPHA:3380
Alveolar Echinococcosis
Abnormal vertebral morphology, Pulmonary cyst, Abnormal mesentery morphology, Abnormal spleen mor... ORPHA:284
Microform Holoprosencephaly
Agenesis of corpus callosum, Cyclopia, Holoprosencephaly, Iris coloboma, Duodenal atresia, Short ... ORPHA:280200
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Microglossia, Aplasia/Hypoplasia involving the nose, Cyclopia, Low-set, posteriorly rotated ears,... ORPHA:990
Isolated Klippel-Feil Syndrome
Webbed neck, Abnormality of the vertebral column, Hearing impairment, Abnormal rib morphology, Ab... ORPHA:2345
Houge-Janssens Syndrome 3
Ventriculomegaly, Umbilical hernia, Muscular ventricular septal defect, Hypoplasia of the brainst... OMIM:618354
Cardiofacioneurodevelopmental Syndrome
Cerebellar vermis hypoplasia, Cleft lip, Abdominal situs inversus, Atrioventricular canal defect,... OMIM:619123
Robinow Syndrome
Flared nostrils, Small scrotum, Tooth malposition, Low-set ears, Multicystic kidney dysplasia, An... ORPHA:97360
Biemond Syndrome Type 2
Preaxial polydactyly, Hypogonadism, Hypogonadotropic hypogonadism, Delayed puberty, Hydrocephalus... ORPHA:141333
Polydactyly, Postaxial, Type A1
Broad thumb, Postaxial foot polydactyly, Cutaneous syndactyly of toes, Broad hallux, Preaxial han... OMIM:174200
Stromme Syndrome
Accessory spleen, Cerebellar vermis hypoplasia, Stillbirth, Bilateral renal hypoplasia, Preaxial ... OMIM:243605
Intellectual Developmental Disorder, Autosomal Dominant 66
Low-set ears, Toe clinodactyly, Pectus carinatum, Secundum atrial septal defect, Aortic root aneu... OMIM:619910
Rabson-Mendenhall Syndrome
Clitoral hypertrophy, Insulin-resistant diabetes mellitus, Premature graying of hair, Ventricular... ORPHA:769
Osteopathia Striata With Cranial Sclerosis
Low-set ears, Multicystic kidney dysplasia, Joint contracture of the hand, Natal tooth, Fibular a... OMIM:300373
White Matter Hypoplasia-Corpus Callosum Agenesis-Intellectual Disability Syndrome
Cerebral cortical atrophy, Ventriculomegaly, Aplasia/Hypoplasia of the corpus callosum, Micrognat... ORPHA:3207
Monosomy 13Q34
Epistaxis, Hematochezia, Broad nasal tip, Horizontal eyebrow, Postaxial foot polydactyly, Abnorma... ORPHA:96168
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction, Open mouth, Cryptorchidism, Narrow mouth, Ventricular septal defe... OMIM:300967
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Cleft upper lip, Bowing of the long bones, R... OMIM:611561
Joubert Syndrome 14
Low-set ears, Open mouth, Encephalocele, Ventricular septal defect, Dandy-Walker malformation, Mo... OMIM:614424
Glycogen Storage Disease Iii
Hepatic fibrosis, Ventricular hypertrophy, Elevated circulating hepatic transaminase concentratio... OMIM:232400
Birk-Aharoni Syndrome
Muscular ventricular septal defect, Micrognathia, Cryptorchidism, Microcephaly, Micropenis OMIM:620071
Lissencephaly Syndrome, Norman-Roberts Type
Wide nasal bridge, Low-set ears, Microretrognathia, Cerebellar atrophy, Patent foramen ovale, Age... ORPHA:89844
X-Linked Intellectual Disability, Nascimento Type
Lumbar hypertrichosis, Hearing impairment, Hypoplasia of the pons, Overlapping toe, Cryptorchidis... ORPHA:163956
Synpolydactyly 1
Postaxial foot polydactyly, Broad hallux, Finger syndactyly, Preaxial foot polydactyly, Mesoaxial... OMIM:186000
Trichorhinophalangeal Syndrome, Type Ii
Low-set ears, Rib exostoses, Carious teeth, Hearing impairment, Hyperplasia of the maxilla, Hydro... OMIM:150230
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies
Ventriculomegaly, Clinodactyly, Long philtrum, Micrognathia, Cryptorchidism, Hypoplasia of the co... OMIM:618577
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Increased axial length of the globe, Everted upper lip vermilion, Hyperplasia of the maxilla, Rec... ORPHA:513456
Pierpont Syndrome
Ventriculomegaly, Abnormal cortical gyration, Chiari malformation, Prominent fingertip pads, Shor... ORPHA:487825
Holoprosencephaly 9
Hypoplasia of the premaxilla, Alobar holoprosencephaly, Cryptorchidism, Anophthalmia, Bilateral c... OMIM:610829
Masa Syndrome
Hand clenching, Ventriculomegaly, Camptodactyly of finger, Agenesis of corpus callosum, Clinodact... ORPHA:2466
Weiss-Kruszka Syndrome
Decreased response to growth hormone stimulation test, Abnormal heart morphology, Cryptorchidism,... ORPHA:502430
Chromosome 1P36 Deletion Syndrome, Distal
Low-set ears, Aortic root aneurysm, Hearing impairment, Lateral ventricle dilatation, Abnormality... OMIM:607872
Macrocephaly, Acquired, With Impaired Intellectual Development
Ventriculomegaly, Long philtrum, Probst bundles, Agenesis of corpus callosum, Unilateral cryptorc... OMIM:618286
Syndactyly Type 2
Postaxial foot polydactyly, Sandal gap, Camptodactyly of finger, Preaxial foot polydactyly, 2-3 t... ORPHA:93403
Giant Cell Arteritis
Hearing impairment, Abnormal pleura morphology, Abdominal aortic aneurysm, Hematuria, Arrhythmia,... ORPHA:397
Orofaciodigital Syndrome Xviii
Short distal phalanx of finger, Cleft lip, Sandal gap, Diastema, Preaxial polydactyly, Genu valgu... OMIM:617927
Chromosome 13Q33-Q34 Deletion Syndrome
Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Cryptorchidism, Encephalocele, Ag... OMIM:619148
Benign Schwannoma
Nasal polyposis, Peripheral schwannoma, Vertigo, Schwannoma, Abnormality of the liver, Vestibular... ORPHA:252164
Marshall-Smith Syndrome
Low-set ears, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Bilateral conductive ... OMIM:602535
Autosomal Recessive Robinow Syndrome
Multicystic kidney dysplasia, Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Elb... ORPHA:1507
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Small hand, Clinodactyly, Congenital diaphragmatic hernia, Ventricular septal defect, Atrial sept... OMIM:301044
Aarskog-Scott Syndrome
Small hand, Finger syndactyly, Cryptorchidism, Short neck, Everted lower lip vermilion, Short foo... ORPHA:915
Congenital Muscular Dystrophy With Cerebellar Involvement
Occipital encephalocele, Hypoplasia of the pons, Type II lissencephaly, Agenesis of corpus callos... ORPHA:370959
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Choanal atresia, Cleft lip, Abnormal heart morphology, M... ORPHA:91412
Arnold-Chiari Malformation Type I
Myelopathy, Abnormality of the twelfth cranial nerve, Areflexia of upper limbs, Urinary incontine... ORPHA:268882
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Low-set ears, Aortic root aneurysm, Cryptorchidism, Mitral regurgitation, Ventricular septal defe... OMIM:617506
Ellis-Van Creveld Syndrome
Postaxial foot polydactyly, Natal tooth, Hypoplastic iliac wing, Genu valgum, Cryptorchidism, Tal... OMIM:225500
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Elbow dislocation, Radial bowing, Micrognathia, Cleft soft p... OMIM:142900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Low-set ears, Carious teeth, Natal tooth, Chiari malformation, Broad thumb... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Low-set ears, Carious teeth, Natal tooth, Chiari malformation, Broad thumb... ORPHA:353277
Ciliary Dyskinesia, Primary, 37
Hearing impairment, Goiter, Situs inversus totalis, Right aortic arch, Chronic rhinitis, Hypothyr... OMIM:617577
Yuan-Harel-Lupski Syndrome
Aortic root aneurysm, Hearing impairment, Long philtrum, Talipes valgus, Sandal gap, Decreased ne... OMIM:616652
Meckel Syndrome, Type 6
Hepatic fibrosis, Pulmonary hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Clef... OMIM:612284
Catel-Manzke Syndrome
Low-set ears, Narrow naris, Ulnar deviation of the 2nd finger, Micrognathia, Narrow mouth, Crypto... OMIM:616145
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Aortic valve stenosis, Carious teeth, Natal tooth, Chiari malformation, Broad thumb, Cryptorchidi... ORPHA:353281
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects
Low-set ears, Velopharyngeal insufficiency, Radioulnar synostosis, Vertebral clefting, Lobar holo... OMIM:614701
Atrioventricular Septal Defect, Susceptibility To, 2
Atrioventricular canal defect, Pulmonary artery atresia, Right aortic arch with mirror image bran... OMIM:606217
Oculoectodermal Syndrome
Wide nasal bridge, Depressed nasal bridge, Bladder exstrophy, Supernumerary nipple, Hypertrophic ... OMIM:600268
Gm1 Gangliosidosis
Low-set ears, Aspiration pneumonia, Cherry red spot of the macula, Hepatosplenomegaly, Abnormal s... ORPHA:354
Hypoglossia With Situs Inversus
Low-set ears, Microglossia, Polysplenia, Micrognathia, Situs inversus totalis, Narrow mouth, Hypo... OMIM:612776
Walker-Warburg Syndrome
Lissencephaly, Bifid uvula, Ventriculomegaly, Abnormal cortical gyration, Polymicrogyria, Cryptor... ORPHA:899
Microphthalmia With Limb Anomalies
Hypoplasia of the premaxilla, Toe syndactyly, Postaxial foot polydactyly, Elbow dislocation, Syno... ORPHA:1106
Desmosterolosis
Low-set ears, Hypoplastic nasal bridge, Joint contracture of the hand, Micrognathia, Bilateral ta... OMIM:602398
Viss Syndrome
Low-set ears, Iliac artery aneurysm, Aortic root aneurysm, Tortuous cerebral arteries, Exostosis ... OMIM:619472
Lissencephaly 3
Cerebellar vermis hypoplasia, Ventriculomegaly, Polymicrogyria, Hypoplasia of the brainstem, Hypo... OMIM:611603
Phenobarbital Embryopathy
Aplasia/Hypoplasia of fingers, Hypospadias, Unilateral cleft lip, Tetralogy of Fallot, Malar flat... ORPHA:1919
Pontocerebellar Hypoplasia, Type 15
Hypoplasia of the brainstem, Death in infancy, Agenesis of corpus callosum, Cerebellar hypoplasia... OMIM:619302
Kbg Syndrome
Bilateral conductive hearing impairment, Cryptorchidism, Short neck, Widely-spaced maxillary cent... ORPHA:2332
Microphthalmia, Syndromic 8
Mandibular prognathia, Cleft upper lip, Split foot, Cryptorchidism, Microcephaly, Orofacial cleft... OMIM:601349
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Toe syndactyly, Broad thumb, Micrognathia, Open mouth, Narrow mouth, Agenesis of corpus callosum,... OMIM:619720
Neurodevelopmental Disorder With Motor And Language Delay, Ocular Defects, And Brain Abnormalities
Leukoencephalopathy, Bifid uvula, Ventriculomegaly, Cerebellar atrophy, Retrognathia, Cerebral at... OMIM:620428
Cornelia De Lange Syndrome 1
Low-set ears, Micrognathia, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular septal d... OMIM:122470
Pontocerebellar Hypoplasia, Type 14
Hypoplasia of the pons, Hypoplasia of the brainstem, Death in infancy, Agenesis of corpus callosu... OMIM:619301
Weiss-Kruszka Syndrome
Low-set ears, Hearing impairment, Ventricular septal defect, Agenesis of corpus callosum, Bicuspi... OMIM:618619
Microcephaly 5, Primary, Autosomal Recessive
Small cerebral cortex, Ventriculomegaly, Hypoplasia of the corpus callosum, Agenesis of corpus ca... OMIM:608716
Congenital Heart Defects, Multiple Types, 6
Total anomalous pulmonary venous return, Secundum atrial septal defect, Hypoplastic pulmonary vei... OMIM:613854
Coach Syndrome 2
Hepatic fibrosis, Cerebellar vermis hypoplasia, Elevated circulating hepatic transaminase concent... OMIM:619111
Myhre Syndrome
Aortic valve stenosis, Low-set ears, Limitation of joint mobility, Hearing impairment, Clinodacty... OMIM:139210
Meckel Syndrome 14
Hepatic fibrosis, Pulmonary hypoplasia, Postaxial foot polydactyly, Occipital encephalocele, Micr... OMIM:619879
Robinow Syndrome, Autosomal Recessive 1
Low-set ears, Bifid distal phalanx of toe, Broad thumb, Micrognathia, Hip dislocation, Short nose... OMIM:268310
3P25.3 Microdeletion Syndrome
Abnormality of the outer ear, Broad thumb, Overlapping toe, Micrognathia, Ventricular septal defe... ORPHA:435638
49,Xxxxy Syndrome
Small scrotum, Carious teeth, Elbow dislocation, Open bite, Type II diabetes mellitus, Cryptorchi... ORPHA:96264
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
High, narrow palate, Underdeveloped superior crus of antihelix, Enuresis, Delayed eruption of tee... ORPHA:369950
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Abnormality of the costochondral junction, Ventricular septal def... ORPHA:79345
Orofaciodigital Syndrome Xiv
Low-set ears, Occipital encephalocele, Natal tooth, Micrognathia, Cryptorchidism, Ventricular sep... OMIM:615948
Distal Deletion 10Q
Low-set ears, Abnormality of the outer ear, Inferior cerebellar vermis hypoplasia, Lateral ventri... ORPHA:96148
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 3
Ventriculomegaly, Polymicrogyria, Hydrocephalus, Postaxial hand polydactyly, Thick corpus callosu... OMIM:615938
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies
Wide nasal bridge, Depressed nasal bridge, Broad nasal tip, Lateral ventricle dilatation, Lower l... OMIM:619995
Fadd-Related Immunodeficiency
Hepatic fibrosis, Cerebral atrophy, Decreased liver function, Ventricular septal defect, Pulmonar... ORPHA:306550
Intellectual Developmental Disorder, X-Linked 112
Dilatation of the renal pelvis, Cryptorchidism, Bicuspid aortic valve, Ectopic kidney, Hypospadia... OMIM:301111
Catel-Manzke Syndrome
Ventriculomegaly, Abnormal epiphysis morphology, Oral synechia, Camptodactyly of finger, Radial d... ORPHA:1388
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Tooth agenesis, Tetralogy of Fallot, Joint stiffness, Micrognathia, Abnormal lower lip morphology... ORPHA:1166
Polydactyly, Preaxial Ii
Opposable triphalangeal thumb, Postaxial foot polydactyly, Preaxial hand polydactyly, Preaxial fo... OMIM:174500
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Hydrocephalus, Frontal encephal... ORPHA:1528
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Low-set ears, Supernumerary nipple, Recurrent otitis media, Overlapping toe, Micrognathia, Low po... OMIM:213980
Orofaciodigital Syndrome Xvii
High, narrow palate, Renal hypoplasia, Ventriculomegaly, Clinodactyly, Retrognathia, Tetralogy of... OMIM:617926
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Hypoplasia of the brainstem, Focal... OMIM:615771
Acrocardiofacial Syndrome
Low-set ears, Toe syndactyly, Finger syndactyly, Cryptorchidism, Ventricular septal defect, Abnor... ORPHA:2008
Kapur-Toriello Syndrome
Low-set ears, Joint contracture of the hand, Overlapping fingers, Cryptorchidism, Bilateral singl... OMIM:244300
Heterotaxy, Visceral, 12, Autosomal
Ventricular septal defect, Discordant atrioventricular connection, Single coronary artery origin,... OMIM:619702
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Ventriculomegaly, Polymicrogyria, Agenesis of corpus callosum, Cerebellar hypoplasia, Primary mic... ORPHA:171703
Prune Belly Syndrome
Multicystic kidney dysplasia, Abnormality of the ureter, Cryptorchidism, Ventricular septal defec... ORPHA:2970
Lissencephaly 7 With Cerebellar Hypoplasia
Hand clenching, Downturned corners of mouth, Micrognathia, Death in infancy, Neonatal death, Agen... OMIM:616342
Greig Cephalopolysyndactyly Syndrome
Broad thumb, Toe syndactyly, Postaxial foot polydactyly, Finger syndactyly, Preaxial hand polydac... ORPHA:380
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension
Rhizomelia, Hydrocephalus, Agenesis of corpus callosum OMIM:166990
Extracranial Carotid Artery Aneurysm
Vasculitis, Total anomalous pulmonary venous return, Arteritis, Upper limb muscle weakness, Ather... ORPHA:494424
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Delayed epiphyseal ossification, Clinodactyly, Cerebral atrophy, Genu valgum, Hypoplasia of the c... ORPHA:166024
Ctcf-Related Neurodevelopmental Disorder
Pulmonary hemorrhage, Narrow mouth, Cryptorchidism, Mitral regurgitation, Joint contracture of th... ORPHA:363611
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Ventriculomegaly, Secondary microcephaly, Cryptorchidism, Death in infancy, Ventricular septal de... OMIM:613730
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micr... OMIM:614039
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Absent ... ORPHA:3186
Developmental Delay With Or Without Dysmorphic Facies And Autism
Low-set ears, Small scrotum, Hearing impairment, Supernumerary nipple, Micrognathia, Cryptorchidi... OMIM:618454
Microcephaly 17, Primary, Autosomal Recessive
Ventriculomegaly, Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Agenesis of cor... OMIM:617090
Alg3-Cdg
Osteopenia, Abnormality of the nose, Cardiomyopathy, Hearing impairment, Decreased liver function... ORPHA:79321
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome
Low-set ears, Broad thumb, Cryptorchidism, Ventricular septal defect, Bicuspid aortic valve, Atri... ORPHA:329224
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal helix morphology, Hearing impairment, Open mouth, Cryptorchidism, Ventricular septal def... ORPHA:453499
Masa Syndrome
Ventriculomegaly, Agenesis of corpus callosum, Talipes equinovarus, Microcephaly, Hydrocephalus, ... OMIM:303350
Monosomy 18P
Tooth malposition, Carious teeth, Micrognathia, Abnormal antihelix morphology, Low posterior hair... ORPHA:1598
Polysyndactyly With Cardiac Malformation
Preaxial hand polydactyly, Anteverted nares, Hepatic cysts, Ventricular septal defect, Renal cyst... OMIM:263630
Lymphedema, Cardiac Septal Defects, And Characteristic Facies
Depressed nasal bridge, Broad nasal tip, Atrial flutter, Lymphedema, Oligohydramnios, Ventricular... OMIM:601927
Cerebellar Vermis Aplasia With Associated Features Suggesting Smith-Lemli-Opitz Syndrome And Meckel Syndrome
Postaxial polydactyly, Periportal fibrosis, Agenesis of cerebellar vermis, Occipital encephalocele OMIM:213010
Cortical Dysplasia, Complex, With Other Brain Malformations 11
High, narrow palate, Ventriculomegaly, Reduced cerebral white matter volume, Retrognathia, Long p... OMIM:620156
Slc35A2-Cdg
Lateral ventricle dilatation, Short tibia, Sensorineural hearing impairment, Talipes equinovarus,... ORPHA:356961
Orofaciodigital Syndrome Type 6
Aplasia/Hypoplasia of the corpus callosum, Micrognathia, Foot polydactyly, High palate, Syndactyl... ORPHA:2754
Hadziselimovic Syndrome
Low-set ears, Ventricular hypertrophy, Renal hypoplasia, Delayed skeletal maturation, Thick lower... OMIM:612946
Lissencephaly 4
Agenesis of corpus callosum, Cerebellar hypoplasia, Colpocephaly, Primary microcephaly, Lissencep... OMIM:614019
Basel-Vanagaite-Smirin-Yosef Syndrome
Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Ventricular septal defect, Everte... OMIM:616449
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormality of the dentition, Ventriculomegaly, Clinodactyly, Dysplastic corpus callosum, Abnorma... ORPHA:500166
Neurooculorenal Syndrome
Ectopic posterior pituitary, Hypoplasia of the pons, Micrognathia, Cryptorchidism, Mitral valve p... OMIM:620305
17Q24.2 Microdeletion Syndrome
Tooth malposition, Broad thumb, Recurrent otitis media, Micrognathia, Short neck, Hemihypotrophy ... ORPHA:529962
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Decreased muscle mass, Muscle fiber atrophy, Limb muscle weakness, Mitral valve prolapse, Abnorma... ORPHA:1900
Orofaciodigital Syndrome V
Low-set ears, Postaxial foot polydactyly, Hearing impairment, Ankyloglossia, Ventricular septal d... OMIM:174300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Recurrent aspiration pneumonia, Ventriculomegaly, Basal ganglia necrosis, Lateral ventricle dilat... ORPHA:79243
Baraitser-Winter Syndrome 2
Ventriculomegaly, Retrognathia, Long philtrum, Secondary microcephaly, Agenesis of corpus callosu... OMIM:614583
Distal Deletion 15Q
Low-set ears, Multicystic kidney dysplasia, Small hand, Hearing impairment, Micrognathia, Genu va... ORPHA:1596
Imagawa-Matsumoto Syndrome
Clinodactyly, Umbilical hernia, Polymicrogyria, Cryptorchidism, Agenesis of corpus callosum, Larg... OMIM:618786
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Ventriculomegaly, Hypoplasia of the olfactory bulb, Retrocerebel... ORPHA:1827
Suleiman-El-Hattab Syndrome
Low-set ears, Hearing impairment, Clinodactyly, Cryptorchidism, Ventricular septal defect, Atrial... OMIM:618950
Oculodentodigital Dysplasia
Carious teeth, Toe syndactyly, Hearing impairment, Finger syndactyly, Clinodactyly, Micrognathia,... ORPHA:2710
Cofs Syndrome
Cerebral cortical atrophy, Camptodactyly of finger, Hypogonadism, Cerebral calcification, Microgn... ORPHA:1466
Agnathia-Otocephaly Complex
Low-set ears, Pulmonary hypoplasia, Microglossia, Secundum atrial septal defect, Conductive heari... OMIM:202650
Marden-Walker Syndrome
Multicystic kidney dysplasia, Micrognathia, Narrow mouth, Agenesis of corpus callosum, Arachnodac... ORPHA:2461
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Low-set ears, Atlantoaxial dislocation, Carious teeth, Aortic root aneurysm, Dysplasia of the fem... ORPHA:536467
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Hypoplastic left heart, Unilateral renal agenesis, Bilateral renal agenesis, Anomalous origin of ... OMIM:618845
Beckwith-Wiedemann Syndrome
Subchorionic septal cyst, Nephropathy, Chiari malformation, Hearing impairment, Abnormal earlobe ... ORPHA:116
Emanuel Syndrome
Aortic valve stenosis, Low-set ears, Hearing impairment, Recurrent otitis media, Micrognathia, Cr... OMIM:609029
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Iris coloboma, Hearing impairment, 11 pairs of ribs, Cryptorchidis... ORPHA:77298
Congenital Syphilis
Hearing impairment, Extramedullary hematopoiesis, Hyperplasia of the maxilla, Hepatosplenomegaly,... ORPHA:499009
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Imaging Abnormalities
Ventriculomegaly, Hypoplasia of the brainstem, Death in childhood, Hypoplasia of the corpus callo... OMIM:616486
Amish Lethal Microcephaly
Cerebellar vermis hypoplasia, Ventriculomegaly, Organic aciduria, Cleft soft palate, Micrognathia... ORPHA:99742
Lissencephaly Due To Tuba1A Mutation
Cerebellar vermis hypoplasia, Ventriculomegaly, Microretrognathia, Dysgenesis of the basal gangli... ORPHA:171680
Anencephaly 2
Median cleft palate, Anophthalmia, Median cleft upper lip, Cleft maxillary alveolar ridge, Anence... OMIM:619452
Congenital Tracheomalacia
Ventricular septal defect, Atrial septal defect, Single ventricle, Double aortic arch, Patent duc... ORPHA:95430
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Short 3rd metacarpal, Short thumb, Short 4th toe, 2-4 toe cutaneous syndactyly, Muscular ventricu... OMIM:618569
Larsen Syndrome
Hypoplastic cervical vertebrae, Hearing impairment, Elbow dislocation, Cryptorchidism, Ventricula... OMIM:150250
Acrofacial Dysostosis 1, Nager Type
Low-set ears, Toe syndactyly, Velopharyngeal insufficiency, Atresia of the external auditory cana... OMIM:154400
Greenberg Dysplasia
Low-set ears, Fractured rib, Postaxial foot polydactyly, Supernumerary vertebral ossification cen... OMIM:215140
Distal Triplication 15Q
Low-set ears, Abnormal helix morphology, Dilatation of the renal pelvis, Micrognathia, Sensorineu... ORPHA:314588
Distal Duplication 5Q
Carious teeth, Absent thumb, Long philtrum, Micrognathia, Narrow mouth, Cryptorchidism, Ventricul... ORPHA:96097
Holoprosencephaly 13, X-Linked
Low-set ears, Alobar holoprosencephaly, Hearing impairment, Thoracic hemivertebrae, Micrognathia,... OMIM:301043
Ehlers-Danlos Syndrome, Classic-Like, 2
Aortic root aneurysm, Micrognathia, Cryptorchidism, Mitral valve prolapse, Low posterior hairline... OMIM:618000
Cortical Dysplasia, Complex, With Other Brain Malformations 5
Cerebellar vermis hypoplasia, Ventriculomegaly, Reduced cerebral white matter volume, Hypoplasia ... OMIM:615763
Craniofacial Dyssynostosis With Short Stature
Ventriculomegaly, Horseshoe kidney, Malar flattening, Cryptorchidism, Agenesis of corpus callosum... OMIM:218350
14Q24.1Q24.3 Microdeletion Syndrome
Wide nasal bridge, Short thumb, Long philtrum, Abnormal heart morphology, Intestinal malrotation,... ORPHA:401935
Pierpont Syndrome
Chiari malformation, Prominent fingertip pads, Short toe, Widely spaced teeth, Short finger, Micr... OMIM:602342
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Lambdoidal craniosynostosis, Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Sup... ORPHA:352665
Gaba-Transaminase Deficiency
Cerebellar hypoplasia, Retrognathia, Death in childhood, Agenesis of corpus callosum OMIM:613163
De Barsy Syndrome
Low-set ears, Decreased muscle mass, Prominent veins on trunk, Narrow mouth, Cryptorchidism, Vent... ORPHA:2962
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Epiphyseal dysplasia, Lymphopenia, Metaphyseal dysplasia, Anal atresia, Dislocated radial head, B... OMIM:617425
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Ventriculomegaly, Polymicrogyria, Cavum septum pellucidum, Polydactyly, Ventricular septal defect... OMIM:602501
X-Linked Intellectual Disability, Siderius Type
Cleft upper lip, Preaxial hand polydactyly, Decreased testicular size, Cryptorchidism, Orofacial ... ORPHA:85287
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Micrognathia, High palate, Accessory oral frenulum, Syndactyly, Hypop... OMIM:252100
Doors Syndrome
Wide nasal base, Low-set ears, Atresia of the external auditory canal, Aspiration pneumonia, Shor... ORPHA:79500
Opitz Gbbb Syndrome
Low-set ears, Natal tooth, Hearing impairment, Aortic root aneurysm, Ankyloglossia, Micrognathia,... ORPHA:2745
Hydrolethalus Syndrome 1
Micrognathia, Agenesis of corpus callosum, Ventricular septal defect, Talipes equinovarus, Microp... OMIM:236680
Microphthalmia With Brain And Digit Anomalies
Inferior cerebellar vermis hypoplasia, Postaxial foot polydactyly, Finger syndactyly, Cryptorchid... ORPHA:139471
Epilepsy, Progressive Myoclonic, 9
Ventriculomegaly, Microglossia, Short thumb, Agenesis of corpus callosum, Simplified gyral pattern OMIM:616540
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Skeletal muscle atrophy, Mitral regurgitation, Knee flexion contracture, ... OMIM:603387
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Micrognathia, Narrow mouth, Encephalocele, Cryptorchidism, Renal hy... ORPHA:2166
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Polymicrogyria, Encephalocele, Agenesis of corpus callosum, Orofaci... ORPHA:220493
Braddock-Carey Syndrome 1
Small hand, Multicystic kidney dysplasia, Clinodactyly, Agenesis of corpus callosum, Ventricular ... OMIM:619980
Craniofaciofrontodigital Syndrome
Aortic valve stenosis, Mitral regurgitation, Ventricular septal defect, Bicuspid aortic valve, Ar... ORPHA:363705
Digeorge Syndrome
Low-set ears, Recurrent otitis media, Micrognathia, Hepatic steatosis, Ovarian cyst, Ventricular ... OMIM:188400
Ellis Van Creveld Syndrome
Synostosis of carpal bones, Abnormality of the ureter, Genu valgum, Cryptorchidism, Ventricular s... ORPHA:289
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 2
Ventriculomegaly, Polymicrogyria, Hemimegalencephaly, Hypoplasia of the corpus callosum, Hydrocep... OMIM:615937
Atrial Septal Defect, Sinus Venosus Type
Junctional ectopic tachycardia, Automatic atrial tachycardia, Systolic heart murmur, Tricuspid re... ORPHA:99105
Orofaciodigital Syndrome Type 5
Postaxial foot polydactyly, Postaxial polysyndactyly of foot, Cleft soft palate, Agenesis of corp... ORPHA:2919
1Q44 Microdeletion Syndrome
Ventriculomegaly, Optic disc hypoplasia, Horseshoe kidney, Micrognathia, Vesicoureteral reflux, E... ORPHA:238769
Gillessen-Kaesbach-Nishimura Syndrome
Periportal fibrosis, Retrognathia, Abnormal lung lobation, Abnormal heart morphology, Micrognathi... OMIM:263210
Brachial Amelia, Cleft Lip, And Holoprosencephaly
Low-set ears, Tessier cleft, Cleft upper lip, Foot oligodactyly, Anterior encephalocele, Bilatera... OMIM:601357
3Q13 Microdeletion Syndrome
Long philtrum, Cryptorchidism, Agenesis of corpus callosum, Abnormality of the hand, Hypoplasia o... ORPHA:1621
Isotretinoin-Like Syndrome
Aortic valve stenosis, Abnormal cardiac ventricle morphology, Abnormal aortic arch morphology, Ab... ORPHA:2306
6Q25 Microdeletion Syndrome
Ventriculomegaly, Long philtrum, Camptodactyly of finger, Micrognathia, Malar flattening, Agenesi... ORPHA:251056
Corpus Callosum, Agenesis Of
Camptodactyly, Microcephaly, Joint contracture of the hand, Agenesis of corpus callosum OMIM:217990
Lissencephaly, X-Linked, 1
Pachygyria, Death in infancy, Agenesis of corpus callosum, Micropenis, Agyria, Lissencephaly OMIM:300067
Linear Skin Defects With Multiple Congenital Anomalies 2
Ventricular hypertrophy, Sandal gap, Long philtrum, Tetralogy of Fallot, Hypoplasia of the corpus... OMIM:300887
Intellectual Disability, Wolff Type
Broad thumb, Limitation of joint mobility, Cryptorchidism, Low posterior hairline, Abnormal intes... ORPHA:3080
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral ventricle dilatation, Postaxial polysyndactyly of foot, Ventricular septal defect, Atrial... OMIM:263520
16P13.11 Microdeletion Syndrome
Low-set ears, Atresia of the external auditory canal, Cryptorchidism, Ventricular septal defect, ... ORPHA:261236
Shprintzen-Goldberg Craniosynostosis Syndrome
Low-set ears, Thin ribs, Joint contracture of the hand, Micrognathia, Genu valgum, Cryptorchidism... OMIM:182212
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Low-set ears, Supernumerary nipple, Cryptorchidism, Agenesis of corpus callosum, Low posterior ha... OMIM:618929
Coach Syndrome 1
Occipital encephalocele, Encephalocele, Cirrhosis, Molar tooth sign on MRI, Hepatomegaly, Optic d... OMIM:216360
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Clinodactyly, Micrognathia, Frontal upsweep of hair, ... OMIM:305450
Temtamy Preaxial Brachydactyly Syndrome
Low-set ears, Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Mic... ORPHA:363417
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Low-set ears, Dilated third ventricle, Occipital encephalocele, Lateral ventricle dilatation, Sup... ORPHA:397715
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Ventriculomegaly, Midline notch of upper alveolar ridge, Broad hall... OMIM:617127
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Ventriculomegaly, Cleft upper lip, Hypoplasia of the brainstem, Type II lissencephaly, Cerebellar... OMIM:613150
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities
Clinodactyly of the 2nd toe, Broad thumb, Clinodactyly of the 2nd finger, Secondary microcephaly,... OMIM:620073
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Occipital encephalocele, Atresia of the external auditory canal, Ch... OMIM:164210
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Low-set ears, Broad thumb, Micrognathia, Open mouth, Ventricular septal defect, Agenesis of corpu... OMIM:309520
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Low-set ears, Enlarged metaphyses, Aortic root aneurysm, Micrognathia, Narrow mouth, Congenital d... OMIM:245600
Peroxisome Biogenesis Disorder 12A (Zellweger)
Wide nasal bridge, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase con... OMIM:614886
Mitochondrial Complex I Deficiency, Nuclear Type 36
Periventricular leukomalacia, Cardiomegaly, Microcephaly, Perimembranous ventricular septal defec... OMIM:619170
Microcephalic Primordial Dwarfism Due To Znf335 Deficiency
Small cerebral cortex, Ventriculomegaly, Abnormal cerebral cortex morphology, Abnormal cerebellum... ORPHA:329228
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome
Proximal muscle weakness in lower limbs, Small hand, Aortic root aneurysm, Large fleshy ears, Nar... ORPHA:280633
Frank-Ter Haar Syndrome
Low-set ears, Delayed cranial suture closure, Micrognathia, Mitral valve prolapse, Ventricular se... OMIM:249420
Arboleda-Tham Syndrome
Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr... OMIM:616268
Neurodevelopmental Disorder With Seizures And Gingival Overgrowth
Ventriculomegaly, Cerebellar atrophy, Camptodactyly of finger, Gingival overgrowth, Jaw swelling,... OMIM:619323
X-Linked Neurodegenerative Syndrome, Bertini Type
Recurrent bronchopulmonary infections, Death in infancy, Agenesis of corpus callosum ORPHA:85334
Retinitis Pigmentosa 89
Hepatic fibrosis, Micronodular cirrhosis, Hepatosplenomegaly, Intrahepatic bile duct dilatation, ... OMIM:618955
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects
Low-set ears, Choanal atresia, Unilateral renal agenesis, Webbed neck, Retrognathia, Renal agenes... OMIM:619227
Tatton-Brown-Rahman Syndrome
Mandibular prognathia, Neuroendocrine neoplasm, Aortic root aneurysm, Chiari malformation, Umbili... ORPHA:404443
Phaver Syndrome
Low-set ears, Aplasia/Hypoplasia of the earlobes, Broad thumb, Ventricular septal defect, Radioul... ORPHA:2876
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Wide nasal bridge, Depressed nasal bridge, Low-set ears, Absent nipple, Congenital hip dislocatio... OMIM:104350
14Q22Q23 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Micrognathia, Bilateral single transverse palmar creases, Cryp... ORPHA:264200
Ring Chromosome 21 Syndrome
Small hand, Clinodactyly, Thoracic hemivertebrae, Abnormal heart morphology, Azoospermia, Abnorma... ORPHA:1445
Hydrocephaly-Low Insertion Umbilicus Syndrome
Abnormality of the urinary system, Tetralogy of Fallot, Abnormal thorax morphology, Long nose, Co... ORPHA:2184
Intellectual Disability, Birk-Barel Type
Tongue fasciculations, Micrognathia, Open mouth, Motor axonal neuropathy, Spinal muscular atrophy... ORPHA:166108
Thakker-Donnai Syndrome
Webbed neck, Downturned corners of mouth, Tetralogy of Fallot, Bulbous nose, Anteverted nares, Na... ORPHA:1780
Chime Syndrome
Abnormality of the outer ear, Acute leukemia, Hearing impairment, Ventricular septal defect, Abno... ORPHA:3474
Intellectual Developmental Disorder, X-Linked, Syndromic 35
Hearing impairment, Contracture of the proximal interphalangeal joint of the 2nd finger, Narrow m... OMIM:300998
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Renal hypoplasia, Sandal gap, Lateral ventricle dilatation, Umbilical hernia, Retrognathia, Micro... OMIM:618914
Caudal Regression Syndrome
Chiari malformation, Decreased muscle mass, Abnormality of the ureter, Cryptorchidism, Talipes eq... ORPHA:3027
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Occipital cortical atrophy, Hypoplasia of the pons, Anophthalmia, Hypoplasia of the corpus callos... ORPHA:411986
Congenital Heart Defects And Skeletal Malformations Syndrome
Carious teeth, Aortic root aneurysm, Cryptorchidism, Congenital diaphragmatic hernia, Ventricular... OMIM:617602
Short-Rib Thoracic Dysplasia 18 With Polydactyly
Ventriculomegaly, Radial bowing, Micromelia, Preaxial polydactyly, Micrognathia, Ulnar bowing, Si... OMIM:617866
Burn-Mckeown Syndrome
Bifid uvula, Unilateral renal agenesis, Renal hypoplasia, Cleft upper lip, Micrognathia, Narrow m... OMIM:608572
Fliedner-Zweier Syndrome
Unilateral renal agenesis, Multicystic kidney dysplasia, Cerebellar atrophy, Long philtrum, Bulbo... OMIM:620511
Adams-Oliver Syndrome